Pigmentary skin disorders
Gene: WRAP53
WRAP53 (WD repeat containing antisense to TP53)
EnsemblGeneIds (GRCh38): ENSG00000141499
EnsemblGeneIds (GRCh37): ENSG00000141499
OMIM: 612661, Gene2Phenotype
WRAP53 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000141499
EnsemblGeneIds (GRCh37): ENSG00000141499
OMIM: 612661, Gene2Phenotype
WRAP53 is in 13 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3
Publications
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: WRAP53; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Dyskeratosis congenita
- DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3
- DKCB3
- OMIM
- 612661
- Clinvar variants
- Variants in WRAP53
- Penetrance
- None
- Publications
- Panels with this gene
-
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Ductal plate malformation
- Childhood solid tumours
- DDG2P
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Fetal anomalies
- Pigmentary skin disorders
- COVID-19 research
History Filter Activity
12 Dec 2019, Gel status: 3
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3 for gene: WRAP53 Publications for gene WRAP53 were changed from to 21205863
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to WRAP53.
31 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: WRAP53 was added gene: WRAP53 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita