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Hydrocephalus
Gene: SMARCC1

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, 9:49 p.m. | Last Modified: 14 Mar 2023, 9:49 p.m.

Panel Version: 3.6

Created: 14 Mar 2023, 9:49 p.m.
Last Modified: 14 Mar 2023, 9:49 p.m.
Panel version: 3.6

Sarah Leigh (Genomics England Curator)

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

Created: 14 Mar 2022, 1:52 p.m.
Last Modified: 14 Mar 2022, 1:52 p.m.
Panel version: 2.127

Arina Puzriakova (Genomics England Curator)

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: 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

Created: 2 Jun 2021, 12:30 p.m.
Last Modified: 2 Jun 2021, 12:30 p.m.
Panel version: 2.105

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.

Panel version: 2.5

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

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.

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating was removed from gene: SMARCC1.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (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