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  3. SMARCC1
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Fetal anomalies

Gene: SMARCC1

Green List (high evidence)
SMARCC1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1)
EnsemblGeneIds (GRCh38): ENSG00000173473
EnsemblGeneIds (GRCh37): ENSG00000173473
OMIM: 601732, Gene2Phenotype
SMARCC1 is in 3 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Comment 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
Created: 14 Mar 2023, 9:50 p.m.
Last Modified: 14 Mar 2023, 9:50 p.m.
Panel version: 2.17

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

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

Created: 29 Oct 2021, 2:33 p.m.
Last Modified: 29 Oct 2021, 2:33 p.m.
Panel version: 1.749

Arina Puzriakova (Genomics England Curator)

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 Incomplete
Created: 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
Created: 2 Jun 2021, 12:30 p.m.
Last Modified: 2 Jun 2021, 12:35 p.m.
Copied from panel: Hydrocephalus v2.104

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three de novo variants, two LOF, one missense, reported in this hydrocephalus cohort. Supportive mouse model.
Sources: Literature
Created: 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

Created: 2 Nov 2020, 9:54 a.m.

Copied from panel: Hydrocephalus v2.104

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital hydrocephalus
  • Aqueductal stenosis
  • Septal agenesis
  • Corpus callosum abnormalities
  • {Hydrocephalus, congenital, 5, susceptibility to}, OMIM:620241
OMIM
601732
Clinvar variants
Variants in SMARCC1
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

14 Mar 2023, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

14 Mar 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked was removed from gene: SMARCC1.

8 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: SMARCC1.

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating was removed from gene: SMARCC1.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to SMARCC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

2 Jun 2021, Gel status: 2

Set penetrance

Arina Puzriakova (Genomics England Curator)

Penetrance for gene SMARCC1 was set from to None

2 Jun 2021, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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