WRAP53

WD repeat containing antisense to TP53
OMIM: 612661
PanelMode of inheritanceDetails
7 panels
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 3, 613988
R-numbers: R91
Signed-off version 1.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 3, 613988, 613988 Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis Congenita, Recessive, 300299 Neutropenia, severe congenital, X-linked, Dyskeratosis congenita, Dyskeratosis Congenita, Autosomal Recessive, 3, Inherited Bone Marrow Failure Syndromes
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 613988
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: BM failure syndrome (typ AR), Dyskeratosis congenita, MDS, AML, Bone marrow failure, macrocytosis, Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma
R-numbers: R236
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, DKCB3
R-numbers: R359
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 3, 613988