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Haemophagocytic syndrome with absent XIAP expression

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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with MIM #300635 in OMIM and the OMIM record was last accessed on 20 December 2025.
Created: 20 Dec 2025, 6:05 p.m. | Last Modified: 20 Dec 2025, 6:05 p.m.
Panel Version: 1.3
XIAP has been added to the panel for R18 Haemophagocytic syndrome with absent XIAP expression with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 1:32 p.m. | Last Modified: 30 Jun 2023, 1:32 p.m.
Panel Version: 0.1

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

Created: 30 Jun 2023, 1:32 p.m.
Last Modified: 30 Jun 2023, 1:32 p.m.
Panel version: 0.1

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 2, OMIM:300635
  • X-linked lymphoproliferative disease due to XIAP deficiency, MONDO:0010385
OMIM
300079
Clinvar variants
Variants in XIAP
Penetrance
None
Panels with this gene

History Filter Activity

20 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: XIAP were changed from Lymphoproliferative syndrome, X-linked, 2, OMIM:300635; X-linked lymphoproliferative disease due to XIAP deficiency, MONDO:0010385 to Lymphoproliferative syndrome, X-linked, 2, OMIM:300635; X-linked lymphoproliferative disease due to XIAP deficiency, MONDO:0010385

20 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: XIAP were changed from to Lymphoproliferative syndrome, X-linked, 2, OMIM:300635; X-linked lymphoproliferative disease due to XIAP deficiency, MONDO:0010385

29 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: XIAP was added gene: XIAP was added to Haemophagocytic syndrome with absent XIAP expression. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)