XIAP

X-linked inhibitor of apoptosis
OMIM: 300079, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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 6.13 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