XIAP

X-linked inhibitor of apoptosis
OMIM: 300079, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green XIAP in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.44

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 2 300635
Green XIAP in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75

review 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
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Lymphoproliferative syndrome, X-linked, 2 300635
Green XIAP in COVID-19 research


Level 2: Viral research
Version 1.142

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • IUIS Classification February 2018
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 2 (XLP2)
  • inflammatory bowel disease
  • 300635
  • splenomegaly
  • Diseases of Immune Dysregulation
  • X-linked lymphoproliferative syndrome (XLP)
  • haemophagocytic lymphohistiocytosis
  • Lymphoproliferative syndrome, X-linked, 2
  • EBV infection, Splenomegaly, lymphoproliferation, HLH, Colitis, IBD, hepatitis, Low iNKT cells, hypogammaglobulinemia
Green XIAP in Intestinal failure or congenital diarrhoea


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 2, OMIM:300635
Green XIAP in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

review 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
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 2
  • 300635
  • Lymphoproliferative syndrome, X-linked, 2 (XLP2)
  • X-linked lymphoproliferative syndrome (XLP)
  • haemophagocytic lymphohistiocytosis
  • inflammatory bowel disease
  • splenomegaly
  • EBV infection, Splenomegaly, lymphoproliferation, HLH, Colitis, IBD, hepatitis, Low iNKT cells, hypogammaglobulinemia
  • Diseases of Immune Dysregulation
Red XIAP in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.24
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    Green XIAP in Severe Paediatric Disorders


    Version 1.184

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lymphoproliferative syndrome, X-linked, 2, 300635
    Green XIAP in Haemophagocytic syndrome with absent XIAP expression


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    review 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