Hydrocephalus
Gene: SMARCC1Comment on phenotypes: Adding the OMIM phenotype and removing the gene-checked tag.Created: 14 Mar 2023, 9:49 p.m. | Last Modified: 14 Mar 2023, 9:49 p.m.
Panel Version: 3.6
The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 14 Mar 2022, 1:52 p.m. | Last Modified: 14 Mar 2022, 1:52 p.m.
Panel Version: 2.127
Penetrance for gene SMARCC1 was set from None to IncompleteCreated: 7 Jun 2021, 8:49 a.m. | Last Modified: 7 Jun 2021, 8:49 a.m.
Panel Version: 2.105
Comment on list classification: There is sufficient evidence to rate this gene as Green at the next GMS panel update.
At least 9 unrelated families with different heterozygous variants in the SMARCC1 gene (PMID: 29983323; 32732226; 33077954). Note there is reduced penetrance as 4 variants were transmitted from an unaffected parent (3 variants occurred de novo; 1 was unphased). All affected individuals presented congenital hydrocephalus and aqueductal stenosis. Other variable features include corpus callosum abnormalities, septal agenesis, developmental delay, along with cardiac and skeletal abnormalities.Created: 2 Jun 2021, 12:30 p.m. | Last Modified: 2 Jun 2021, 12:30 p.m.
Panel Version: 2.102
Three de novo variants, two LOF, one missense, reported in this hydrocephalus cohort. Supportive mouse model.
Sources: LiteratureCreated: 2 Nov 2020, 9:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital hydrocephalus
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SMARCC1 were changed from Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities to Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities; {Hydrocephalus, congenital, 5, susceptibility to}, OMIM:620241
Tag gene-checked was removed from gene: SMARCC1.
Tag gene-checked tag was added to gene: SMARCC1.
Tag Q2_21_rating was removed from gene: SMARCC1.
Source Expert Review Green was added to SMARCC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Penetrance for gene SMARCC1 was set from to None
Phenotypes for gene: SMARCC1 were changed from Congenital hydrocephalus to Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities
Tag Q2_21_rating tag was added to gene: SMARCC1.
Publications for gene: SMARCC1 were set to 33077954; 24170322
Gene: smarcc1 has been classified as Amber List (Moderate Evidence).
gene: SMARCC1 was added gene: SMARCC1 was added to Hydrocephalus. Sources: Literature Mode of inheritance for gene: SMARCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCC1 were set to 33077954; 24170322 Phenotypes for gene: SMARCC1 were set to Congenital hydrocephalus Review for gene: SMARCC1 was set to GREEN gene: SMARCC1 was marked as current diagnostic