Deafness_Isolated
Gene: SMARCA4EnsemblGeneIds (GRCh38): ENSG00000127616
EnsemblGeneIds (GRCh37): ENSG00000127616
OMIM: 603254, Gene2Phenotype
SMARCA4 is in 16 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
A single missense variant E1610K (M_001128849.3) was reported in 7 affected members of a family with progressive hearing loss due to otosclerosis and no other clinical features. Variant is absent from gnomAD. Note that unaffected members of the family were not tested - some obligate carriers were apparently unaffected, reflecting incomplete penetrance.
A mouse CRISPR model with the orthologous variant had a similar phenotype.
Sources: LiteratureCreated: 3 Aug 2023, 2:40 a.m. | Last Modified: 3 Aug 2023, 3:09 a.m.
Panel Version: 1.46
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Otosclerosis MONDO:0005349, SMARCA4-related
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Otosclerosis MONDO:0005349, SMARCA4-related
- OMIM
- 603254
- Clinvar variants
- Variants in SMARCA4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Neuroblastoma
- Schwannoma
- Clefting disorders
- Sarcoma soft tissue
- Intellectual disability syndromic and non-syndromic
- Hypertrichosis syndromes
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Hand and foot malformations
- Deafness_Isolated
- Fetal anomalies
- Congenital Heart Defect
- Mendeliome
- Congenital diaphragmatic hernia
- Callosome
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smarca4 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smarca4 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: SMARCA4 was added gene: SMARCA4 was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCA4 were set to 37399313 Phenotypes for gene: SMARCA4 were set to Otosclerosis MONDO:0005349, SMARCA4-related Review for gene: SMARCA4 was set to AMBER gene: SMARCA4 was marked as current diagnostic