ClinGen Gene Validity Curations
Gene: WRAP53EnsemblGeneIds (GRCh38): ENSG00000141499
EnsemblGeneIds (GRCh37): ENSG00000141499
OMIM: 612661, Gene2Phenotype
WRAP53 is in 13 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 23 Jun 2017, 11:51 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- ClinGen
- Phenotypes
-
- Dyskeratosis Congenita
- OrphaNet ORPHA1775
- OMIM613988
- OMIM
- 612661
- Clinvar variants
- Variants in WRAP53
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Haematological malignancies for rare disease
- Intellectual disability
- Haematological malignancies cancer susceptibility
- Ductal plate malformation
- Adult solid tumours cancer susceptibility
- Pigmentary skin disorders
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Childhood solid tumours
- Fetal anomalies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)WRAP53 was added to ClinGen Gene Validity Curationspanel. Source: Expert Review Amber
Added New Source
Ellen McDonagh (Genomics England Curator)WRAP53 was added to ClinGen Gene Validity Curationspanel. Sources: ClinGen
Created
Ellen McDonagh (Genomics England Curator)WRAP53 was created by ellenmcdonagh