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  2. Hydrocephalus_Ventriculomegaly
  3. SMARCC1
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Hydrocephalus_Ventriculomegaly

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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: 24 Oct 2020, 2:18 a.m. | Last Modified: 24 Oct 2020, 2:31 a.m.
Panel Version: 0.66

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital hydrocephalus

Publications

Created: 24 Oct 2020, 2:18 a.m.
Last Modified: 24 Oct 2020, 2:31 a.m.
Panel version: 0.66

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital hydrocephalus
OMIM
601732
Clinvar variants
Variants in SMARCC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SMARCC1 were set to 33077954

24 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smarcc1 has been classified as Green List (High Evidence).

24 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smarcc1 has been classified as Green List (High Evidence).

24 Oct 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMARCC1 was added gene: SMARCC1 was added to Hydrocephalus_Ventriculomegaly. 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 Phenotypes for gene: SMARCC1 were set to Congenital hydrocephalus Review for gene: SMARCC1 was set to GREEN