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  3. WRAP53
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Cytopenias and congenital anaemias

Gene: WRAP53

Amber List (moderate evidence)
WRAP53 (WD repeat containing antisense to TP53)
EnsemblGeneIds (GRCh38): ENSG00000141499
EnsemblGeneIds (GRCh37): ENSG00000141499
OMIM: 612661, Gene2Phenotype
WRAP53 is in 13 panels

2 reviews

Arianna Tucci (Genomics England Curator)

I don't know

The two individuals reported with WRAP53 compound heterozygous pathogenic variants have classic DC with the mucocutaneous phenotype and bone marrow failure (20301779). Hence AA/cytopennia could be a presenting feature
Created: 9 Mar 2017, 4:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal recessive 3, 613988

Publications

Created: 9 Mar 2017, 4:32 p.m.

Panel version: 0.522

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:47 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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

History Filter Activity

11 Mar 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

WRAP53 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Amber

17 Feb 2017, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

WRAP53 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

WRAP53 was created by LouiseD