Hereditary ataxia with onset in adulthood
Gene: TINF2EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 21 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Looks like the wrong phenotypeCreated: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
Downgraded Green to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Plenty of cases in literature - ataxia and/or cerebellar abnormalities listed against both OMIM phenotypesCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autosomal dominant dyskeratosis congenita 3, 613990, Revesz syndrome, 268130
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Phenotypes
-
- Autosomal dominant dyskeratosis congenita 3, 613990
- Revesz syndrome, 268130
- OMIM
- 604319
- Clinvar variants
- Variants in TINF2
- Penetrance
- None
- 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
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to TINF2. Rating Changed from Green List (high evidence) to Red List (low evidence)
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: TINF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: tinf2 has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to TINF2.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Autosomal dominant dyskeratosis congenita 3, 613990; Revesz syndrome, 268130 for gene: TINF2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TINF2.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: TINF2 was added gene: TINF2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TINF2 was set to