Renal and urinary tract disorders
Gene: CHD1L

CHD1L (chromodomain helicase DNA binding protein 1 like)
EnsemblGeneIds (GRCh38): ENSG00000131778
EnsemblGeneIds (GRCh37): ENSG00000131778
OMIM: 613039, Gene2Phenotype
CHD1L is in 2 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Rated red to reflect the limited evidence found by the ClinGen group.
Created: 25 Jul 2017, 8:41 a.m.

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: 25 Jul 2017, 8:41 a.m.

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

Phenotypes
Renal or urinary tract malformation (CAKUT); ORPHA93545

Publications

Created: 25 Jul 2017, 8:41 a.m.

Panel version: Imported from CAKUT panel version 1.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red

Phenotypes

ORPHA93545
Renal or urinary tract malformation (CAKUT)

OMIM

613039

Clinvar variants

Variants in CHD1L

Penetrance

None

Publications

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: ClinGen Gene Validity Classifi

20 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CHD1L was added gene: CHD1L was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: CHD1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD1L were set to 22146311; 24429398 Phenotypes for gene: CHD1L were set to ORPHA93545; Renal or urinary tract malformation (CAKUT)

Renal and urinary tract disorders Gene: CHD1L