ClinGen Gene Validity Curations

Gene: CHD1L

Red List (low evidence)

CHD1L (chromodomain helicase DNA binding protein 1 like)
EnsemblGeneIds (GRCh38): ENSG00000131778
EnsemblGeneIds (GRCh37): ENSG00000131778
OMIM: 613039, Gene2Phenotype
CHD1L is in 4 panels

1 review

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.
Source: ClinGen Gene Validity Classification Summary. Determined as LIMITED by calculated classification (dated: 05/25/2016) and LIMITED by Expert curation (dated 11/18/2016). Available here: https://search.clinicalgenome.org/kb/gene-validity/3220
Created: 19 Apr 2017, 2:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • ClinGen
  • Other
Phenotypes
  • Renal or urinary tract malformation (CAKUT)
  • ORPHA93545
OMIM
613039
Clinvar variants
Variants in CHD1L
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Jun 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CHD1L was added to ClinGen Gene Validity Curationspanel. Source: Expert Review Red

20 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CHD1L was added to ClinGen Gene Validity Curationspanel. Source: ClinGen

19 Apr 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CHD1L was created by ellenmcdonagh

19 Apr 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CHD1L was added to ClinGen Gene Validity Curationspanel. Sources: Other