This Panel is marked as Internal
Non-Fanconi anaemia
Gene: TINF2
TINF2 (TERF1 interacting nuclear factor 2)
EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 21 panels
1 review
Mark Greenslade (Bristol Genetics Laboratory)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Sources
-
- UKGTN
- OMIM
- 604319
- Clinvar variants
- Variants in TINF2
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Familial pulmonary fibrosis
- Cerebellar hypoplasia
- Haematological malignancies cancer susceptibility
- Intracerebral calcification disorders
- Intellectual disability
- Pigmentary skin disorders
- COVID-19 research
- Haematological malignancies for rare disease
- Retinal disorders
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Fetal anomalies
History Filter Activity
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TINF2 was added to Non-Fanconi anaemiapanel. Source: UKGTN
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TINF2 was added to Non-Fanconi anaemiapanel. Source: UKGTN
15 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TINF2 was added to Non-Fanconi anaemiapanel. Sources: UKGTN