Genomics England

TINF2

TERF1 interacting nuclear factor 2

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Dyskeratosis congenita, autosomal dominant 3 613990
Green in Cytopenia - NOT Fanconi anaemia R-numbers: R91 Signed-off version 3.0	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 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	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
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, Revesz syndrome, Dyskeratosis congenita, DKCA3, REVESZ SYNDROME
Green in Pulmonary fibrosis familial R-numbers: R421 Signed-off version 1.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dyskeratosis congenita, autosomal dominant 3, OMIM:613990
Green in Retinal disorders R-numbers: R32 Signed-off version 6.16	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Revesz syndrome, 268130