Anaemias and red cell disorders
Gene: WRAP53EnsemblGeneIds (GRCh38): ENSG00000141499
EnsemblGeneIds (GRCh37): ENSG00000141499
OMIM: 612661, Gene2Phenotype
WRAP53 is in 13 panels
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert list
- Phenotypes
-
- Inherited Bone Marrow Failure Syndromes
- Dyskeratosis congenita
- Dyskeratosis congenita, autosomal recessive 3, 613988
- Dyskeratosis Congenita, Recessive
- Dyskeratosis Congenita, Autosomal Recessive, 3
- OMIM
- 612661
- Clinvar variants
- Variants in WRAP53
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Haematological malignancies for rare disease
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Ductal plate malformation
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- COVID-19 research
- Childhood solid tumours
- DDG2P
- Fetal anomalies
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)WRAP53 was added to Anaemias and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen WRAP53 was added to Anaemias and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Created
Ellen McDonagh (Genomics England Curator)WRAP53 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)WRAP53 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Expert list