This Panel is marked as Internal
ClinGen Gene Validity Curations
Gene: CHD1L
CHD1L (chromodomain helicase DNA binding protein 1 like)
EnsemblGeneIds (GRCh38): ENSG00000131778
EnsemblGeneIds (GRCh37): ENSG00000131778
OMIM: 613039, Gene2Phenotype
CHD1L is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000131778
EnsemblGeneIds (GRCh37): ENSG00000131778
OMIM: 613039, Gene2Phenotype
CHD1L is in 2 panels
1 review
Ellen McDonagh (Genomics England Curator)
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/3220Created: 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