Ataxia and cerebellar anomalies - narrow panel
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Dyskeratosis congenita, autosomal dominant 3 613990
- OMIM
- 604319
- Clinvar variants
- Variants in TINF2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Pulmonary fibrosis familial
- Cerebellar hypoplasia
- Cytopenia - NOT Fanconi anaemia
- Intracerebral calcification disorders
- Haematological malignancies cancer susceptibility
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Familial pulmonary fibrosis
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Childhood interstitial lung disease
- Fetal anomalies
- Pigmentary skin disorders
- Haematological malignancies for rare disease
- Retinal disorders
- Ductal plate malformation
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TINF2 was added gene: TINF2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TINF2 were set to 18979121; 18252230 Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3 613990