Coarse facial features including Coffin-Siris-like disorders

Gene: SMARCB1

Green List (high evidence)

SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1)
EnsemblGeneIds (GRCh38): ENSG00000099956
EnsemblGeneIds (GRCh37): ENSG00000099956
OMIM: 601607, Gene2Phenotype
SMARCB1 is in 12 panels

1 review

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

Variants in this GENE are reported as part of current diagnostic practice

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 3
  • Coffin-Siris Syndrome
OMIM
601607
Clinvar variants
Variants in SMARCB1
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)

SMARCB1 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 Nov 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

SMARCB1 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)

SMARCB1 was created by [email protected]

29 Jun 2016, Gel status: 0

Added New Source

alisdair mcneill (Sheffield childrens hospital)

SMARCB1 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Expert list