Haematological malignancies for rare disease
Gene: WRAP53EnsemblGeneIds (GRCh38): ENSG00000141499
EnsemblGeneIds (GRCh37): ENSG00000141499
OMIM: 612661, Gene2Phenotype
WRAP53 is in 13 panels
1 review
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Curated sources
- Phenotypes
-
- Class: BM failure syndrome (typ AR)
- Dyskeratosis congenita
- MDS, AML
- Bone marrow failure, macrocytosis
- Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma
- OMIM
- 612661
- Clinvar variants
- Variants in WRAP53
- Penetrance
- None
- Publications
- Panels with this gene
-
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Haematological malignancies cancer susceptibility
- Ductal plate malformation
- Adult solid tumours cancer susceptibility
- Intellectual disability
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Childhood solid tumours
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Pigmentary skin disorders
- Fetal anomalies
History Filter Activity
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
Added New Source
Ellen McDonagh (Genomics England Curator)WRAP53 was added to Haematological malignancies for rare disease panel. Sources: Curated sources,Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)WRAP53 was created by Ellen McDonagh