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Cataract

Gene: XIAP

Red List (low evidence)
XIAP (X-linked inhibitor of apoptosis)
EnsemblGeneIds (GRCh38): ENSG00000101966
EnsemblGeneIds (GRCh37): ENSG00000101966
OMIM: 300079, Gene2Phenotype
XIAP is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

No evidence of cataract as a feature of this immunological condition.
Created: 7 Apr 2020, 9:58 a.m. | Last Modified: 7 Apr 2020, 9:58 a.m.
Panel Version: 0.102

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Lymphoproliferative syndrome, X-linked, 2 MIM#300635

Created: 7 Apr 2020, 9:58 a.m.
Last Modified: 7 Apr 2020, 9:58 a.m.
Panel version: 0.102

History Filter Activity

7 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

7 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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