XIAP:Ensemblv115

X-linked inhibitor of apoptosis
OMIM: 300079, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red XIAP in Cataract


Level 2: Ophthalmological disorders
Version 1.0

1 review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red

Green XIAP in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 1.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • X-linked lymphoproliferative syndrome 2
  • inflammatory bowel disease
  • colitis

Green XIAP in Predominantly Antibody Deficiency


Level 2: Immunological disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Green
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 2, MIM# 300635

Green XIAP in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Green
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 2, MIM# 300635
Tags
  • treatable

Green XIAP in Susceptibility to Viral Infections


Level 2: Immunological disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 2 300635
  • Host response to EBV

Green XIAP in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 2, 300635 (3)

Green XIAP in Prepair 1000+


Level 2: Screening
Version 3.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Lymphoproliferative syndorme, X-linked, 2 MIM#300635

Green XIAP in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 2, MIM# 300635
Tags
  • treatable
  • immunological

Green XIAP in Prepair 500+


Level 2: Screening
Version 3.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Lymphoproliferative syndorme, X-linked, 2 MIM#300635