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  2. Coarse facial features including Coffin-Siris-like disorders
  3. SMARCE1
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Coarse facial features including Coffin-Siris-like disorders

Gene: SMARCE1

Green List (high evidence)
SMARCE1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1)
EnsemblGeneIds (GRCh38): ENSG00000073584
EnsemblGeneIds (GRCh37): ENSG00000073584
OMIM: 603111, Gene2Phenotype
SMARCE1 is in 6 panels

2 reviews

Alice Gardham (Genomics England)

Comment on list classification: Causes a small percent of Coffin Siris. Recognised on G2P
Created: 23 Nov 2016, 9:37 a.m.
Created: 23 Nov 2016, 9:37 a.m.

Panel version: 0.45

alisdair mcneill (Sheffield childrens hospital)

Green List (high evidence)

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

Created: 29 Jun 2016, 7:04 p.m.

Panel version: 0.38

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Coffin-Siris syndrome 5
OMIM
603111
Clinvar variants
Variants in SMARCE1
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: 1

Added New Source

Olivia Niblock (Genomics England Curator)

SMARCE1 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)

SMARCE1 was created by [email protected]

29 Jun 2016, Gel status: 0

Added New Source

alisdair mcneill (Sheffield childrens hospital)

SMARCE1 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Expert list