Intestinal failure or congenital diarrhoea

Gene: XIAP

Green List (high evidence)

XIAP (X-linked inhibitor of apoptosis)
EnsemblGeneIds (GRCh38): ENSG00000101966
EnsemblGeneIds (GRCh37): ENSG00000101966
OMIM: 300079, Gene2Phenotype
XIAP is in 7 panels

1 review

Eleanor Williams (Genomics England Curator)

This gene has previously been called BIRC4
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 2, OMIM:300635
OMIM
300079
Clinvar variants
Variants in XIAP
Penetrance
None
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: XIAP was added gene: XIAP was added to Intestinal failure. Sources: Expert Review Green Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, OMIM:300635