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Cataract

Gene: IL2RG

Red List (low evidence)
IL2RG (interleukin 2 receptor subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000147168
EnsemblGeneIds (GRCh37): ENSG00000147168
OMIM: 308380, Gene2Phenotype
IL2RG is in 10 panels

1 review

Lauren Akesson (Royal Melbourne Hospital)

Red List (low evidence)

There does not appear to be a link between this gene and cataract.
Created: 6 Apr 2020, 6:32 a.m. | Last Modified: 6 Apr 2020, 6:32 a.m.
Panel Version: 0.60

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Severe combined immunodeficiency, X-linked (300400); Moderate combined immunodeficiency, X-linked (312863)

Created: 6 Apr 2020, 6:32 a.m.
Last Modified: 6 Apr 2020, 6:32 a.m.
Panel version: 0.60

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency, X-linked (300400)
  • Moderate combined immunodeficiency, X-linked (312863)
OMIM
308380
Clinvar variants
Variants in IL2RG
Penetrance
None
Panels with this gene

History Filter Activity

6 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: il2rg has been classified as Red List (Low Evidence).

6 Apr 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IL2RG were changed from to Severe combined immunodeficiency, X-linked (300400); Moderate combined immunodeficiency, X-linked (312863)

6 Apr 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IL2RG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

6 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: il2rg 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: IL2RG was added gene: IL2RG was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IL2RG was set to Unknown