Entry Search - 181590 210600 251200 601215 603368 604124 604317 604321 604804 605481 606605 606744 607117 608201 608393 608684 608716 609173 609279 611423 612703 613529 613583 613676 613823 614673 614724 614728 614851 614852

Search: '181590 210600 251200 601215 603368 604124 604317 604321 604804 605481 606605 606744 607117 608201 608393 608684 608716 609173 609279 611423 612703 613529 613583 613676 613823 614673 614724 614728 614851 614852 (Search in: MIM number)'

Results: 30 entries.

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* 606605. ATR-INTERACTING PROTEIN; ATRIP
Cytogenetic location: 3p21.31, Genomic coordinates (GRCh38): 3:48,446,737-48,467,645
Matching terms: 606605
► Links

Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

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# 606744. SECKEL SYNDROME 2; SCKL2
Cytogenetic location: 18q11.2
Matching terms: 606744
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
18q11.2	Seckel syndrome 2	606744	AR	3	RBBP8	604124

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Seckel syndrome - PS210600 - 9 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3p21.31	Seckel syndrome 9	AR	3	616777	TRAIP	605958
3q22.2	?Seckel syndrome 6	AR	3	614728	CEP63	614724
3q23	Seckel syndrome 1	AR	3	210600	ATR	601215
8q24.13	Seckel syndrome 10	AR	3	617253	NSMCE2	617246
10q21.3	Seckel syndrome 8	AR	3	615807	DNA2	601810
13q12.12-q12.13	?Seckel syndrome 4	AR	3	613676	CENPJ	609279
14q22.1	?Seckel syndrome 7	AR	3	614851	NIN	608684
15q21.1	Seckel syndrome 5	AR	3	613823	CEP152	613529
18q11.2	Seckel syndrome 2	AR	3	606744	RBBP8	604124

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Genetic Alliance GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 808 DO: 0070013

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* 607117. MICROCEPHALIN 1; MCPH1
Cytogenetic location: 8p23.1, Genomic coordinates (GRCh38): 8:6,406,627-6,648,508
Matching terms: 607117
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
8p23.1	Microcephaly 1, primary, autosomal recessive	251200	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

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* 608201. CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 2; CDK5RAP2
Cytogenetic location: 9q33.2, Genomic coordinates (GRCh38): 9:120,388,875-120,580,167
Matching terms: 608201
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
9q33.2	Microcephaly 3, primary, autosomal recessive	604804	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

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# 608393. MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6
Cytogenetic location: 13q12.12-q12.13
Matching terms: 608393
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
13q12.12-q12.13	Microcephaly 6, primary, autosomal recessive	608393	AR	3	CENPJ	609279

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Microcephaly, primary - PS251200 - 30 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p34.2	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities	AR	3	616486	MFSD2A	614397
1p33	Microcephaly 7, primary, autosomal recessive	AR	3	612703	STIL	181590
1p21.2	Microcephaly 14, primary, autosomal recessive	AR	3	616402	SASS6	609321
1q31.3	Microcephaly 5, primary, autosomal recessive	AR	3	608716	ASPM	605481
1q32.1	Microcephaly 20, primary, autosomal recessive	AR	3	617914	KIF14	611279
2q11.2	?Microcephaly 23, primary, autosomal recessive	AR	3	617985	NCAPH	602332
2q13	Microcephaly 30, primary, autosomal recessive	AR	3	620183	BUB1	602452
3p22.3	?Microcephaly 29, primary, autosomal recessive	AR	3	620047	PDCD6IP	608074
3q23	?Microcephaly 19, primary, autosomal recessive	AR	3	617800	COPB2	606990
4q12	Microcephaly 8, primary, autosomal recessive	AR	3	614673	CEP135	611423
4q21.23	?Microcephaly 18, primary, autosomal dominant	AD	3	617520	WDFY3	617485
4q24	?Microcephaly 13, primary, autosomal recessive	AR	3	616051	CENPE	117143
5q23.2	Microcephaly 26, primary, autosomal dominant	AD	3	619179	LMNB1	150340
7q21.2	?Microcephaly 12, primary, autosomal recessive	AR	3	616080	CDK6	603368
7q22.1	?Microcephaly 25, primary, autosomal recessive	AR	3	618351	MAP11	618350
8p23.1	Microcephaly 1, primary, autosomal recessive	AR	3	251200	MCPH1	607117
9q33.2	Microcephaly 3, primary, autosomal recessive	AR	3	604804	CDK5RAP2	608201
11q25	Microcephaly 22, primary, autosomal recessive	AR	3	617984	NCAPD3	609276
12p13.31	Microcephaly 21, primary, autosomal recessive	AR	3	617983	NCAPD2	615638
12p13.31	?Microcephaly 11, primary, autosomal recessive	AR	3	615414	PHC1	602978
12q23.2	?Microcephaly 24, primary, autosomal recessive	AR	3	618179	NUP37	609264
12q24.23	Microcephaly 17, primary, autosomal recessive	AR	3	617090	CIT	605629
12q24.33	Microcephaly 16, primary, autosomal recessive	AR	3	616681	ANKLE2	616062
13q12.12-q12.13	Microcephaly 6, primary, autosomal recessive	AR	3	608393	CENPJ	609279
15q15.1	Microcephaly 4, primary, autosomal recessive	AR	3	604321	KNL1	609173
15q21.1	Microcephaly 9, primary, autosomal recessive	AR	3	614852	CEP152	613529
19p13.3	Microcephaly 27, primary, autosomal dominant	AD	3	619180	LMNB2	150341
19q13.12	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	AR	3	604317	WDR62	613583
20q13.12	Microcephaly 10, primary, autosomal recessive	AR	3	615095	ZNF335	610827
22q13.2	?Microcephaly 28, primary, autosomal recessive	AR	3	619453	RRP7A	619449

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Genetic Alliance GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
ORPHA: 2512 DO: 0070290

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* 608684. NINEIN; NIN
Cytogenetic location: 14q22.1, Genomic coordinates (GRCh38): 14:50,719,763-50,831,503
Matching terms: 608684
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
14q22.1	?Seckel syndrome 7	614851	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

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# 608716. MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5
Cytogenetic location: 1q31.3
Matching terms: 608716
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1q31.3	Microcephaly 5, primary, autosomal recessive	608716	AR	3	ASPM	605481

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Microcephaly, primary - PS251200 - 30 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p34.2	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities	AR	3	616486	MFSD2A	614397
1p33	Microcephaly 7, primary, autosomal recessive	AR	3	612703	STIL	181590
1p21.2	Microcephaly 14, primary, autosomal recessive	AR	3	616402	SASS6	609321
1q31.3	Microcephaly 5, primary, autosomal recessive	AR	3	608716	ASPM	605481
1q32.1	Microcephaly 20, primary, autosomal recessive	AR	3	617914	KIF14	611279
2q11.2	?Microcephaly 23, primary, autosomal recessive	AR	3	617985	NCAPH	602332
2q13	Microcephaly 30, primary, autosomal recessive	AR	3	620183	BUB1	602452
3p22.3	?Microcephaly 29, primary, autosomal recessive	AR	3	620047	PDCD6IP	608074
3q23	?Microcephaly 19, primary, autosomal recessive	AR	3	617800	COPB2	606990
4q12	Microcephaly 8, primary, autosomal recessive	AR	3	614673	CEP135	611423
4q21.23	?Microcephaly 18, primary, autosomal dominant	AD	3	617520	WDFY3	617485
4q24	?Microcephaly 13, primary, autosomal recessive	AR	3	616051	CENPE	117143
5q23.2	Microcephaly 26, primary, autosomal dominant	AD	3	619179	LMNB1	150340
7q21.2	?Microcephaly 12, primary, autosomal recessive	AR	3	616080	CDK6	603368
7q22.1	?Microcephaly 25, primary, autosomal recessive	AR	3	618351	MAP11	618350
8p23.1	Microcephaly 1, primary, autosomal recessive	AR	3	251200	MCPH1	607117
9q33.2	Microcephaly 3, primary, autosomal recessive	AR	3	604804	CDK5RAP2	608201
11q25	Microcephaly 22, primary, autosomal recessive	AR	3	617984	NCAPD3	609276
12p13.31	Microcephaly 21, primary, autosomal recessive	AR	3	617983	NCAPD2	615638
12p13.31	?Microcephaly 11, primary, autosomal recessive	AR	3	615414	PHC1	602978
12q23.2	?Microcephaly 24, primary, autosomal recessive	AR	3	618179	NUP37	609264
12q24.23	Microcephaly 17, primary, autosomal recessive	AR	3	617090	CIT	605629
12q24.33	Microcephaly 16, primary, autosomal recessive	AR	3	616681	ANKLE2	616062
13q12.12-q12.13	Microcephaly 6, primary, autosomal recessive	AR	3	608393	CENPJ	609279
15q15.1	Microcephaly 4, primary, autosomal recessive	AR	3	604321	KNL1	609173
15q21.1	Microcephaly 9, primary, autosomal recessive	AR	3	614852	CEP152	613529
19p13.3	Microcephaly 27, primary, autosomal dominant	AD	3	619180	LMNB2	150341
19q13.12	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	AR	3	604317	WDR62	613583
20q13.12	Microcephaly 10, primary, autosomal recessive	AR	3	615095	ZNF335	610827
22q13.2	?Microcephaly 28, primary, autosomal recessive	AR	3	619453	RRP7A	619449

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

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ICD+
ORPHA: 2512 DO: 0070280

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* 609173. KINETOCHORE SCAFFOLD 1; KNL1
AF15Q14/ALL1 FUSION GENE, INCLUDED
Cytogenetic location: 15q15.1, Genomic coordinates (GRCh38): 15:40,594,249-40,664,342
Matching terms: 609173
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
15q15.1	Microcephaly 4, primary, autosomal recessive	604321	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

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* 609279. CENTROMERIC PROTEIN J; CENPJ
Cytogenetic location: 13q12.12-q12.13, Genomic coordinates (GRCh38): 13:24,882,279-24,934,000
Matching terms: 609279
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
13q12.12-q12.13	?Seckel syndrome 4	613676	AR	3
13q12.12-q12.13	Microcephaly 6, primary, autosomal recessive	608393	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity GTR	Variation ClinVar gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

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10:

* 611423. CENTROSOMAL PROTEIN, 135-KD; CEP135
Cytogenetic location: 4q12, Genomic coordinates (GRCh38): 4:55,948,945-56,033,361
Matching terms: 611423
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
4q12	Microcephaly 8, primary, autosomal recessive	614673	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources GTR	Variation ClinVar DECIPHER gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

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Search: 181590 210600 251200 601215 603368 604124 604317 604321 604804 605481 606605 606744 607117 608201 608393 608684 608716 609173 609279 611423 612703 613529 613583 613676 613823 614673 614724 614728 614851 614852 (Search in: MIM number)

Results: 30 entries.

* 606605. ATR-INTERACTING PROTEIN; ATRIP
Cytogenetic location: 3p21.31, Genomic coordinates (GRCh38): 3:48,446,737-48,467,645
Matching terms: 606605

# 606744. SECKEL SYNDROME 2; SCKL2
Cytogenetic location: 18q11.2
Matching terms: 606744

* 607117. MICROCEPHALIN 1; MCPH1
Cytogenetic location: 8p23.1, Genomic coordinates (GRCh38): 8:6,406,627-6,648,508
Matching terms: 607117

* 608201. CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 2; CDK5RAP2
Cytogenetic location: 9q33.2, Genomic coordinates (GRCh38): 9:120,388,875-120,580,167
Matching terms: 608201

# 608393. MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6
Cytogenetic location: 13q12.12-q12.13
Matching terms: 608393

* 608684. NINEIN; NIN
Cytogenetic location: 14q22.1, Genomic coordinates (GRCh38): 14:50,719,763-50,831,503
Matching terms: 608684

# 608716. MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5
Cytogenetic location: 1q31.3
Matching terms: 608716

* 609173. KINETOCHORE SCAFFOLD 1; KNL1
AF15Q14/ALL1 FUSION GENE, INCLUDED
Cytogenetic location: 15q15.1, Genomic coordinates (GRCh38): 15:40,594,249-40,664,342
Matching terms: 609173

* 609279. CENTROMERIC PROTEIN J; CENPJ
Cytogenetic location: 13q12.12-q12.13, Genomic coordinates (GRCh38): 13:24,882,279-24,934,000
Matching terms: 609279

10:

* 611423. CENTROSOMAL PROTEIN, 135-KD; CEP135
Cytogenetic location: 4q12, Genomic coordinates (GRCh38): 4:55,948,945-56,033,361
Matching terms: 611423

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