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Inflammatory bowel disease

Gene: XIAP

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

1 review

Lavvina Thiyagarajan (Sydney Children's Hospital Network)

Green List (high evidence)

Greater than 3 unrelated individuals in literature.
Associated with phenotype on OMIM.
Created: 22 Mar 2021, 11:02 a.m. | Last Modified: 22 Mar 2021, 11:02 a.m.
Panel Version: 0.51

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

Phenotypes
X-linked lymphoproliferative syndrome 2; inflammatory bowel disease; colitis

Publications

Created: 22 Mar 2021, 11:02 a.m.
Last Modified: 22 Mar 2021, 11:02 a.m.
Panel version: 0.51

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • X-linked lymphoproliferative syndrome 2
  • inflammatory bowel disease
  • colitis
OMIM
300079
Clinvar variants
Variants in XIAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: xiap has been classified as Green List (High Evidence).

23 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: XIAP were changed from to X-linked lymphoproliferative syndrome 2; inflammatory bowel disease; colitis

23 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: XIAP were set to

23 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

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 Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: XIAP was set to Unknown