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Mendeliome

Gene: SMARCC2

Green List (high evidence)

SMARCC2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2)
EnsemblGeneIds (GRCh38): ENSG00000139613
EnsemblGeneIds (GRCh37): ENSG00000139613
OMIM: 601734, Gene2Phenotype
SMARCC2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

15 individuals with variable degrees of neurodevelopmental delay, growth retardation, prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features.
Sources: Literature
Created: 11 Dec 2019, 4:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 8; OMIM #618362

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Coffin-Siris syndrome 8
  • OMIM #618362
OMIM
601734
Clinvar variants
Variants in SMARCC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smarcc2 has been classified as Green List (High Evidence).

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smarcc2 has been classified as Green List (High Evidence).

11 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMARCC2 was added gene: SMARCC2 was added to Mendeliome_VCGS. Sources: Literature Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCC2 were set to 30580808 Phenotypes for gene: SMARCC2 were set to Coffin-Siris syndrome 8; OMIM #618362 Review for gene: SMARCC2 was set to GREEN