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BabyScreen+ newborn screening

Gene: XIAP

Green List (high evidence)

XIAP (X-linked inhibitor of apoptosis)
EnsemblGeneIds (GRCh38): ENSG00000101966
EnsemblGeneIds (GRCh37): ENSG00000101966
OMIM: 300079, Gene2Phenotype
XIAP is in 10 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Strong gene disease association but reduced penetrance reported.
Most males present in early childhood (first 5 years of life) with HLH and/or inflammatory bowel disease. Female carriers usually unaffected but reports of skewed x inactivation.
Treatment: Emapalumab, Hematopoietic stem cell transplantation (HSCT) - bone marrow transplant
Created: 7 Oct 2022, 12:26 p.m. | Last Modified: 7 Oct 2022, 12:26 p.m.
Panel Version: 0.503

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Lymphoproliferative syndrome, X-linked, 2 MIM#300635

Publications

Details

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

History Filter Activity

23 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag immunological tag was added to gene: XIAP.

9 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: XIAP.

9 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: xiap has been classified as Green List (High Evidence).

9 Oct 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: XIAP were set to

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: XIAP was added gene: XIAP was added to gNBS. Sources: BeginNGS,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, MIM# 300635