Haematological malignancies for rare disease
Gene: TINF2
TINF2 (TERF1 interacting nuclear factor 2)
EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 22 panels
1 review
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Curated sources
- 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
- OMIM
- 604319
- Clinvar variants
- Variants in TINF2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Retinal disorders
- Cytopenia - NOT Fanconi anaemia
- Cerebellar hypoplasia
- Adult solid tumours cancer susceptibility
- Ataxia and cerebellar anomalies - childhood onset
- Intracerebral calcification disorders
- Haematological malignancies cancer susceptibility
- Fetal anomalies
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary ataxia, adult onset
- DDG2P
- Childhood interstitial lung disease
- Haematological malignancies for rare disease
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Intellectual disability
- Childhood solid tumours
- Pulmonary Fibrosis, Familial
- Pigmentary skin disorders
History Filter Activity
22 Aug 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
10 Apr 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)TINF2 was added to Haematological malignancies for rare disease panel. Sources: Curated sources,Expert Review Green
10 Apr 2018, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)TINF2 was created by Ellen McDonagh