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Cataract

Gene: DCLRE1C

Red List (low evidence)
DCLRE1C (DNA cross-link repair 1C)
EnsemblGeneIds (GRCh38): ENSG00000152457
EnsemblGeneIds (GRCh37): ENSG00000152457
OMIM: 605988, Gene2Phenotype
DCLRE1C is in 11 panels

1 review

Lauren Akesson (Royal Melbourne Hospital)

Red List (low evidence)

Cataracts are not a typical feature of these conditions (OMIM)
Created: 22 Mar 2020, 11:07 p.m. | Last Modified: 22 Mar 2020, 11:07 p.m.
Panel Version: 0.33

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Omenn syndrome 603554; Severe combined immunodeficiency, Athabascan type 602450

Created: 22 Mar 2020, 11:07 p.m.
Last Modified: 22 Mar 2020, 11:07 p.m.
Panel version: 0.33

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Omenn syndrome 603554
  • Severe combined immunodeficiency, Athabascan type 602450
OMIM
605988
Clinvar variants
Variants in DCLRE1C
Penetrance
None
Panels with this gene

History Filter Activity

23 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dclre1c has been classified as Red List (Low Evidence).

23 Mar 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DCLRE1C were changed from to Omenn syndrome 603554; Severe combined immunodeficiency, Athabascan type 602450

23 Mar 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DCLRE1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

23 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dclre1c has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DCLRE1C was added gene: DCLRE1C was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DCLRE1C was set to Unknown