Fetal anomalies
Gene: SMARCC1Comment on phenotypes: Adding the OMIM phenotype and removing the gene-checked tag.Created: 14 Mar 2023, 9:50 p.m. | Last Modified: 14 Mar 2023, 9:50 p.m.
Panel Version: 2.17
This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.
Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).
Outcome of review: Confirmed that the phenotype is fetally relevant, agree with other reviewers and support adding to the Fetal anomalies panel as a Green gene.
Details of review:
Lefebvre et al 2020 (PMID: 32732226) report a fetus with Hydrocephaly, Sylvius aqueduct stenosis, camptodactyly, unilateral simian crease. Gene already reviewed as Green on panelapp and flagged for upgrade to Green rating at next GMS panel update.Created: 29 Oct 2021, 2:33 p.m. | Last Modified: 29 Oct 2021, 2:33 p.m.
Panel Version: 1.749
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital hydrocephalus; Aqueduct stenosis
Publications
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
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: 1.674
Comment on list classification: There is sufficient evidence to rate this gene as Green at the next GMS panel update - sufficient cases (>3) of congenital hydrocephaly which may conceivably be detected prenatally.
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, 12:35 p.m.
Panel Version: 1.665
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
gene: SMARCC1 was added gene: SMARCC1 was added to Fetal anomalies. Sources: Expert Review Amber,Literature Q2_21_rating tags were added to gene: SMARCC1. Mode of inheritance for gene: SMARCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCC1 were set to 24170322; 29983323; 32732226; 33077954 Phenotypes for gene: SMARCC1 were set to Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities