Cerebellar hypoplasia
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Dyskeratosis congenita, autosomal dominant 3 613990
- OMIM
- 604319
- Clinvar variants
- Variants in TINF2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Dystonia, chorea or related movement disorder, childhood onset
- Childhood solid tumours
- Pulmonary Fibrosis, Familial
- DDG2P
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Retinal disorders
- Fetal anomalies
- Cytopenia - NOT Fanconi anaemia
- Hereditary ataxia, adult onset
- Cerebellar hypoplasia
- Adult solid tumours cancer susceptibility
- Intracerebral calcification disorders
- Haematological malignancies cancer susceptibility
- Childhood interstitial lung disease
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- Intellectual disability
- COVID-19 research
- Pigmentary skin disorders
- Ataxia and cerebellar anomalies - childhood onset
- Haematological malignancies for rare disease
- Ductal plate malformation
History Filter Activity
22 Feb 2017, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
2 Feb 2017, Gel status: 4
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TINF2 were set to 18252230;18979121
14 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
14 Nov 2016, Gel status: 3
Added New Source
Alice Gardham (Genomics England)TINF2 was added to Cerebellar hypoplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Literature,UKGTN
14 Nov 2016, Gel status: 0
Created
Alice Gardham (Genomics England)TINF2 was created by agardham