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  3. CHD1L
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Unexplained young onset end-stage renal disease - additional genes

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 2 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

This gene has been added to this panel with red rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.
Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65

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

Created: 25 Sep 2024, 9:36 p.m.
Last Modified: 25 Sep 2024, 9:36 p.m.
Panel version: 0.65

Eleanor Williams (Genomics England Curator)

I don't know

Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Red
Created: 9 Apr 2019, 11:17 a.m.
Created: 9 Apr 2019, 11:17 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

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.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • congenital anomaly of kidney and urinary tract, MONDO:0019719
OMIM
613039
Clinvar variants
Variants in CHD1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CHD1L were changed from Renal or urinary tract malformation (CAKUT); ORPHA93545 to congenital anomaly of kidney and urinary tract, MONDO:0019719

28 Sep 2024, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: CHD1L were set to 24429398; 22146311

27 Sep 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Added phenotypes Renal or urinary tract malformation (CAKUT); ORPHA93545 for gene: CHD1L

25 Sep 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CHD1L was added gene: CHD1L was added to Unexplained young onset end-stage renal disease - additional genes. 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 24429398; 22146311 Phenotypes for gene: CHD1L were set to ORPHA93545; Renal or urinary tract malformation (CAKUT)