Hereditary ataxia with onset in adulthood
Gene: TERT
The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 4:24 p.m. | Last Modified: 10 Oct 2023, 4:24 p.m.
Panel Version: 4.24
Comment on list classification: This gene should be demoted from Green to Red at the next GMS panel update as there is no link with adult-onset ataxia associated with this gene.
Cerebellar hypoplasia (but without ataxia) has been identified in 2/5 unrelated AR cases to date, who displayed a phenotype of Hoyeraal-Hreidarsson syndrome, a severe variant of DKC (PMIDs: 17785587; 34890115). Furthermore, literature search only revealed a single adult patient (31 years old) who did not present any signs of ataxia (PMID: 18042801).Created: 18 Nov 2022, 10:56 a.m. | Last Modified: 18 Nov 2022, 10:56 a.m.
Panel Version: 2.168
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.
AR form of DKC is associated with cerebellar hypoplasia according to OMIM (no link with AD form) - given various other non-relevant phenotypes linked to AD variants suggest limited to homozygous or compound heterozygous inheritanceCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, 613989
Tag Q4_22_demote_red was removed from gene: TERT.
Source Expert Review Red was added to TERT. Rating Changed from Green List (high evidence) to Red List (low evidence)
Publications for gene: TERT were set to
Gene: tert has been classified as Green List (High Evidence).
Tag Q4_22_demote_red tag was added to gene: TERT.
Phenotypes for gene: TERT were changed from Dyskeratosis congenita, 613989 to Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Gene: tert has been classified as Green List (High Evidence).
Mode of inheritance for gene: TERT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dyskeratosis congenita, 613989 for gene: TERT
Source NHS GMS was added to TERT.
gene: TERT was added gene: TERT was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TERT was set to