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IBMDx study

Gene: WRAP53

Green List (high evidence)
WRAP53 (WD repeat containing antisense to TP53)
EnsemblGeneIds (GRCh38): ENSG00000141499
EnsemblGeneIds (GRCh37): ENSG00000141499
OMIM: 612661, Gene2Phenotype
WRAP53 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported.
Created: 18 Jun 2021, 9:51 a.m. | Last Modified: 18 Jun 2021, 9:51 a.m.
Panel Version: 0.301

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal recessive 3, MIM# 613988

Publications

Created: 18 Jun 2021, 9:51 a.m.
Last Modified: 18 Jun 2021, 9:51 a.m.
Panel version: Imported from Bone Marrow Failure panel version 0.301

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 3, MIM# 613988
OMIM
612661
Clinvar variants
Variants in WRAP53
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WRAP53 was added gene: WRAP53 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: WRAP53 was set to Unknown Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, MIM# 613988