Clefting
Gene: SMARCB1
Comment on list classification: Although there are 3 unrelated cases in total, these represent only a minor fraction of patients (from total of 23) reported with SMARCB1 variants. Hence, this gene should be rated amber.Created: 25 Jun 2023, 6:41 a.m. | Last Modified: 25 Jun 2023, 6:41 a.m.
Panel Version: 4.74
PMID:25168959 - Two of ten patients reported with Coffin-Siris syndrome and heterozygous variants in SMARCB1 had cleft palate.
DECIPHER database - One of 13 patients identified with heterozygous sequence variants in SMARCB1 had cleft palate.
Sources: LiteratureCreated: 25 Jun 2023, 6:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 3, OMIM:614608
Publications
Gene: smarcb1 has been classified as Amber List (Moderate Evidence).
Gene: smarcb1 has been classified as Amber List (Moderate Evidence).
Gene: smarcb1 has been classified as Amber List (Moderate Evidence).
Gene: smarcb1 has been classified as Amber List (Moderate Evidence).
Gene: smarcb1 has been classified as Red List (Low Evidence).
gene: SMARCB1 was added gene: SMARCB1 was added to Clefting. Sources: Literature Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCB1 were set to 25168959; 37010288 Phenotypes for gene: SMARCB1 were set to Coffin-Siris syndrome 3, OMIM:614608 Review for gene: SMARCB1 was set to AMBER