Coarse facial features including Coffin-Siris-like disorders

Gene: SMARCA4

Green List (high evidence)

SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4)
EnsemblGeneIds (GRCh38): ENSG00000127616
EnsemblGeneIds (GRCh37): ENSG00000127616
OMIM: 603254, Gene2Phenotype
SMARCA4 is in 15 panels

2 reviews

Alice Gardham (Genomics England)

Comment on list classification: Causes around 7% of Coffin Siris
Created: 23 Nov 2016, 9:36 a.m.

alisdair mcneill (Sheffield childrens hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
intellectual disability; coffin-siris syndrome

Publications

  • http://www.ncbi.nlm.nih.gov/pubmed/25169878

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Coffin-Siris syndrome 4
  • Coffin-Siris Syndrome
OMIM
603254
Clinvar variants
Variants in SMARCA4
Penetrance
Complete
Panels with this gene

History Filter Activity

23 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

23 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

18 Nov 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Olivia Niblock (Genomics England Curator)

SMARCA4 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 Nov 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

SMARCA4 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Source: Radboud University Medical Center, Nijmegen

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

29 Jun 2016, Gel status: 0

Created

alisdair mcneill (Sheffield childrens hospital)

SMARCA4 was created by [email protected]

29 Jun 2016, Gel status: 0

Added New Source

alisdair mcneill (Sheffield childrens hospital)

SMARCA4 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Expert list