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Intellectual disability syndromic and non-syndromic

Gene: SMARCA1

Green List (high evidence)

SMARCA1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1)
EnsemblGeneIds (GRCh38): ENSG00000102038
EnsemblGeneIds (GRCh37): ENSG00000102038
OMIM: 300012, Gene2Phenotype
SMARCA1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

40 individuals from 30 families with NDD and variants in this gene reported in this preprint, publication imminent
Sources: Literature
Created: 3 Mar 2025, 9:04 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, SMARCA1-related

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, SMARCA1-related
OMIM
300012
Clinvar variants
Variants in SMARCA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smarca1 has been classified as Green List (High Evidence).

3 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smarca1 has been classified as Green List (High Evidence).

3 Mar 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMARCA1 was added gene: SMARCA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: SMARCA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SMARCA1 were set to 37841849 Phenotypes for gene: SMARCA1 were set to Neurodevelopmental disorder, MONDO:0700092, SMARCA1-related Review for gene: SMARCA1 was set to GREEN