Entry Search - 601607 603254 609322 613325

Search: '601607 603254 609322 613325 (Search in: MIM number)'

Results: 4 entries.

* 603254. SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 4; SMARCA4
Cytogenetic location: 19p13.2, Genomic coordinates (GRCh38): 19:10,961,030-11,062,273
Matching terms: 603254
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
19p13.2	?Otosclerosis 12	620792	AD	3
	{Rhabdoid tumor predisposition syndrome 2}	613325	AD	3
	Coffin-Siris syndrome 4	614609	AD	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 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 WBGene00004106 WBGene00004204 ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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# 613325. RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2
Cytogenetic location: 19p13.2
Matching terms: 613325
► 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
19p13.2	{Rhabdoid tumor predisposition syndrome 2}	613325	AD	3	SMARCA4	603254

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Rhabdoid tumor predisposition syndrome - PS609322 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
19p13.2	{Rhabdoid tumor predisposition syndrome 2}	AD	3	613325	SMARCA4	603254
22q11.23	Rhabdoid tumors, somatic		3	609322	SMARCB1	601607
22q11.23	{Rhabdoid tumor predisposition syndrome 1}	AD	3	609322	SMARCB1	601607

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Links
Testing GTR EuroGentest Rhabdoid tumor predisposit… Rhabdoid tumor	Clinical Resources Clinical Trials EuroGentest Rhabdoid tumor predisposit… Rhabdoid tumor Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet Rhabdoid tumor predisposit… Rhabdoid tumor	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
ORPHA: 231108, 69077 DO: 0060997

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# 609322. RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1
MALIGNANT RHABDOID TUMOR, SOMATIC, INCLUDED
Cytogenetic locations: 22q11.23,
Matching terms: 609322
► 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
22q11.23	{Rhabdoid tumor predisposition syndrome 1}	609322	AD	3	SMARCB1	601607
22q11.23	Rhabdoid tumors, somatic	609322		3	SMARCB1	601607

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Rhabdoid tumor predisposition syndrome - PS609322 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
19p13.2	{Rhabdoid tumor predisposition syndrome 2}	AD	3	613325	SMARCA4	603254
22q11.23	Rhabdoid tumors, somatic		3	609322	SMARCB1	601607
22q11.23	{Rhabdoid tumor predisposition syndrome 1}	AD	3	609322	SMARCB1	601607

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Links
Testing GTR EuroGentest Rhabdoid tumor predisposit… Rhabdoid tumor Atypical teratoid rhabdoid…	Clinical Resources Clinical Trials EuroGentest Rhabdoid tumor predisposit… Rhabdoid tumor Atypical teratoid rhabdoid… Gene Reviews Genetic Alliance GTR OrphaNet Rhabdoid tumor predisposit… Rhabdoid tumor Atypical teratoid rhabdoid…	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
SNOMEDCT: 1156418001, 83118000 ORPHA: 231108, 69077, 99966 DO: 0070618

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* 601607. SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY B, MEMBER 1; SMARCB1
Cytogenetic location: 22q11.23, Genomic coordinates (GRCh38): 22:23,786,966-23,838,009
Matching terms: 601607
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
22q11.23	{Rhabdoid tumor predisposition syndrome 1}	609322	AD	3
	{Schwannomatosis-1, susceptibility to}	162091	AD	3
	Coffin-Siris syndrome 3	614608	AD	3
	Rhabdoid tumors, somatic	609322		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 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 KEGG Reactome

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Search: 601607 603254 609322 613325 (Search in: MIM number)

Results: 4 entries.

# 613325. RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2
Cytogenetic location: 19p13.2
Matching terms: 613325

# 609322. RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1
MALIGNANT RHABDOID TUMOR, SOMATIC, INCLUDED
Cytogenetic locations: 22q11.23,
Matching terms: 609322

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Printed: March 5, 2025