Hereditary ataxia - adult onsetGene: TINF2
Looks like the wrong phenotype
Created: 27 Apr 2019, 7:39 p.m.
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 Red
Created: 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.
Plenty of cases in literature - ataxia and/or cerebellar abnormalities listed against both OMIM phenotypes
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autosomal dominant dyskeratosis congenita 3, 613990, Revesz syndrome, 268130
Source Expert Review Red was added to TINF2. Rating Changed from Green List (high evidence) to Red List (low evidence)
Mode of inheritance for gene: TINF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: tinf2 has been classified as Green List (High Evidence).
Source London North GMS was added to TINF2.
Added phenotypes Autosomal dominant dyskeratosis congenita 3, 613990; Revesz syndrome, 268130 for gene: TINF2
Source NHS GMS was added to TINF2.
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