Clefting disorders
Gene: SMARCA4EnsemblGeneIds (GRCh38): ENSG00000127616
EnsemblGeneIds (GRCh37): ENSG00000127616
OMIM: 603254, Gene2Phenotype
SMARCA4 is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
There are five unrelated cases with cleft plate and one case each with submucous cleft palate and bifid uvula.
PMID:25168959 - 4 of 12 patients with variants in SMARCA4 had cleft palate and another patient had submucous cleft palate.
DECIPHER database - One of 22 patients with heterozygous sequence variants had cleft palate and another patient had bifid uvula (PMID:37010288)
Sources: Expert ReviewCreated: 20 Jul 2023, 5:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 4, MIM# 614609
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Coffin-Siris syndrome 4, MIM# 614609
- 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 Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smarca4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SMARCA4 was added gene: SMARCA4 was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCA4 were set to 25168959; 37010288 Phenotypes for gene: SMARCA4 were set to Coffin-Siris syndrome 4, MIM# 614609 Review for gene: SMARCA4 was set to GREEN