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  2. Familial non syndromic congenital heart disease
  3. CRKL
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Familial non syndromic congenital heart disease

Gene: CRKL

Red List (low evidence)
CRKL (CRK like proto-oncogene, adaptor protein)
EnsemblGeneIds (GRCh38): ENSG00000099942
EnsemblGeneIds (GRCh37): ENSG00000099942
OMIM: 602007, Gene2Phenotype
CRKL is in 2 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: CLK1 deletions thought to be partially responsible for cardiac phenotype in 22q11 del but no evidence that mutations cause cardiac disease. Not recognised on G2P
Created: 28 Nov 2016, 12:23 p.m.
Created: 28 Nov 2016, 12:23 p.m.

Panel version: 0.2

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Tetralogy of Fallot (Tomita-Mitchell (2012) Physiol Genomics 44,518)
OMIM
602007
Clinvar variants
Variants in CRKL
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

28 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

28 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CRKL was created by ellenmcdonagh

28 Nov 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CRKL was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen