Cerebral Palsy
Gene: SMARCB1EnsemblGeneIds (GRCh38): ENSG00000099956
EnsemblGeneIds (GRCh37): ENSG00000099956
OMIM: 601607, Gene2Phenotype
SMARCB1 is in 15 panels
2 reviews
Luisa Weiss (University of Adelaide)
Two individual cases in two large CP cohort studies with heterozygous SMARCB1 mutation. Note that SMARCB1 variants are usually associated with Coffin-Siris syndrome, which mainly presents itself with intellectual disability and characteristic dysmorphic features.Created: 31 Jul 2023, 5:38 a.m. | Last Modified: 31 Jul 2023, 5:38 a.m.
Panel Version: 1.144
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 3 MIM#614608; Rhabdoid tumors, somatic MIM#609322
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Intellectual disability and dysmorphic features, no strong phenotypic overlap with CP.
Sources: Expert listCreated: 25 Sep 2021, 2:53 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 3, MIM# 614608
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Coffin-Siris syndrome 3, MIM# 614608
- OMIM
- 601607
- Clinvar variants
- Variants in SMARCB1
- Penetrance
- None
- Panels with this gene
-
- Schwannoma
- Clefting disorders
- Sarcoma soft tissue
- Intellectual disability syndromic and non-syndromic
- Hypertrichosis syndromes
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Hand and foot malformations
- Meningioma
- Skeletal dysplasia
- Fetal anomalies
- Congenital Heart Defect
- Mendeliome
- Callosome
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smarcb1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smarcb1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SMARCB1 was added gene: SMARCB1 was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMARCB1 were set to Coffin-Siris syndrome 3, MIM# 614608 Review for gene: SMARCB1 was set to RED