Entry Search - 254780 607566 608072 620681

Search: '254780 607566 608072 620681 (Search in: MIM number)'

Results: 4 entries.

# 254780. MYOCLONIC EPILEPSY OF LAFORA 1; MELF1
Cytogenetic location: 6q24.3
Matching terms: 254780
► 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
6q24.3	Myoclonic epilepsy of Lafora 1	254780	AR	3	EPM2A	607566

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Myoclonic epilepsy of Lafora - PS254780 - 2 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
6p22.3	Myoclonic epilepsy of Lafora 2	AR	3	620681	NHLRC1	608072
6q24.3	Myoclonic epilepsy of Lafora 1	AR	3	254780	EPM2A	607566

Epilepsy, progressive myoclonic - PS254800 - 13 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
4q21.1	Epilepsy, progressive myoclonic 4, with or without renal failure	AR	3	254900	SCARB2	602257
4q21.21	?Epilepsy, progressive myoclonic, 10	AR	3	616640	PRDM8	616639
6p22.3	Myoclonic epilepsy of Lafora 2	AR	3	620681	NHLRC1	608072
6q24.3	Myoclonic epilepsy of Lafora 1	AR	3	254780	EPM2A	607566
7q11.21	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	AR	3	611726	KCTD7	611725
11p15.1	Epilepsy, progressive myoclonic 7	AD	3	616187	KCNC1	176258
12q12	Epilepsy, progressive myoclonic 1B	AR	3	612437	PRICKLE1	608500
16q22.1	Epilepsy, progressive myoclonic, 12	AR	3	619191	SLC7A6OS	619192
17q21.32	Epilepsy, progressive myoclonic 6	AR	3	614018	GOSR2	604027
19p13.3	?Epilepsy, progressive myoclonic, 9	AR	3	616540	LMNB2	150341
19p13.3	Epilepsy, progressive myoclonic, 11	AD	3	618876	SEMA6B	608873
19p13.11	Epilepsy, progressive myoclonic, 8	AR	3	616230	CERS1	606919
21q22.3	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	AR	3	254800	CSTB	601145

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype OMIA	Cell Lines Coriell

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ICD+
ORPHA: 501 DO: 3534

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* 608072. NHL REPEAT-CONTAINING PROTEIN 1; NHLRC1
Cytogenetic location: 6p22.3, Genomic coordinates (GRCh38): 6:18,120,440-18,122,677
Matching terms: 608072
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
6p22.3	Myoclonic epilepsy of Lafora 2	620681	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 Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene	Cellular Pathways KEGG Reactome

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* 607566. EPM2A GLUCAN PHOSPHATASE, LAFORIN; EPM2A
EPM2A, ISOFORM A, INCLUDED
Cytogenetic location: 6q24.3, Genomic coordinates (GRCh38): 6:145,383,353-145,736,023
Matching terms: 607566
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
6q24.3	Myoclonic epilepsy of Lafora 1	254780	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 MedlinePlus Genetics 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 Reactome

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# 620681. MYOCLONIC EPILEPSY OF LAFORA 2; MELF2
Cytogenetic location: 6p22.3
Matching terms: 620681
► Phenotype-Gene Relationships ► Phenotypic Series ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
6p22.3	Myoclonic epilepsy of Lafora 2	620681	AR	3	NHLRC1	608072

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Myoclonic epilepsy of Lafora - PS254780 - 2 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
6p22.3	Myoclonic epilepsy of Lafora 2	AR	3	620681	NHLRC1	608072
6q24.3	Myoclonic epilepsy of Lafora 1	AR	3	254780	EPM2A	607566

Epilepsy, progressive myoclonic - PS254800 - 13 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
4q21.1	Epilepsy, progressive myoclonic 4, with or without renal failure	AR	3	254900	SCARB2	602257
4q21.21	?Epilepsy, progressive myoclonic, 10	AR	3	616640	PRDM8	616639
6p22.3	Myoclonic epilepsy of Lafora 2	AR	3	620681	NHLRC1	608072
6q24.3	Myoclonic epilepsy of Lafora 1	AR	3	254780	EPM2A	607566
7q11.21	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	AR	3	611726	KCTD7	611725
11p15.1	Epilepsy, progressive myoclonic 7	AD	3	616187	KCNC1	176258
12q12	Epilepsy, progressive myoclonic 1B	AR	3	612437	PRICKLE1	608500
16q22.1	Epilepsy, progressive myoclonic, 12	AR	3	619191	SLC7A6OS	619192
17q21.32	Epilepsy, progressive myoclonic 6	AR	3	614018	GOSR2	604027
19p13.3	?Epilepsy, progressive myoclonic, 9	AR	3	616540	LMNB2	150341
19p13.3	Epilepsy, progressive myoclonic, 11	AD	3	618876	SEMA6B	608873
19p13.11	Epilepsy, progressive myoclonic, 8	AR	3	616230	CERS1	606919
21q22.3	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	AR	3	254800	CSTB	601145

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Links
Testing GTR	Clinical Resources Clinical Trials Gene Reviews GTR	Animal Models OMIA

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Search: 254780 607566 608072 620681 (Search in: MIM number)

Results: 4 entries.

# 254780. MYOCLONIC EPILEPSY OF LAFORA 1; MELF1
Cytogenetic location: 6q24.3
Matching terms: 254780

* 608072. NHL REPEAT-CONTAINING PROTEIN 1; NHLRC1
Cytogenetic location: 6p22.3, Genomic coordinates (GRCh38): 6:18,120,440-18,122,677
Matching terms: 608072

* 607566. EPM2A GLUCAN PHOSPHATASE, LAFORIN; EPM2A
EPM2A, ISOFORM A, INCLUDED
Cytogenetic location: 6q24.3, Genomic coordinates (GRCh38): 6:145,383,353-145,736,023
Matching terms: 607566

# 620681. MYOCLONIC EPILEPSY OF LAFORA 2; MELF2
Cytogenetic location: 6p22.3
Matching terms: 620681

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