TINF2

TERF1 interacting nuclear factor 2
OMIM: 604319
PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dyskeratosis congenita, autosomal dominant 3 613990
R-numbers: R91
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dyskeratosis congenita, autosomal dominant 3, 613990, Revesz syndrome, 268130, Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, Revesz syndrome, Dyskeratosis congenita, DKCA3, REVESZ SYNDROME
R-numbers: R421
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dyskeratosis congenita, autosomal dominant 3, OMIM:613990
R-numbers: R32
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Revesz syndrome, 268130