Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
Gene: WRAP53EnsemblGeneIds (GRCh38): ENSG00000141499
EnsemblGeneIds (GRCh37): ENSG00000141499
OMIM: 612661, Gene2Phenotype
WRAP53 is in 13 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- UKGTN
- Phenotypes
-
- Inherited Bone Marrow Failure Syndromes
- Dyskeratosis congenita
- OMIM
- 612661
- Clinvar variants
- Variants in WRAP53
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Ductal plate malformation
- DDG2P
- Fetal anomalies
- Cytopenias and congenital anaemias
- COVID-19 research
- Childhood solid tumours
- Pigmentary skin disorders
- Intellectual disability
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)WRAP53 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Expert list
Created
Ellen McDonagh (Genomics England Curator)WRAP53 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)WRAP53 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: UKGTN