Hereditary ataxia with onset in adulthood
Gene: TERTEnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 29 panels
4 reviews
Sarah Leigh (Genomics England Curator)
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
Arina Puzriakova (Genomics England Curator)
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
Louise Daugherty (Genomics England Curator)
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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Wessex and West Midlands GLH
- Phenotypes
-
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Intellectual disability
- DDG2P
- Familial pulmonary fibrosis
- Skeletal dysplasia
- Intestinal failure or congenital diarrhoea
- Pigmentary skin disorders
- Ataxia and cerebellar anomalies - narrow panel
- Haematological malignancies for rare disease
- Inherited predisposition to acute myeloid leukaemia (AML)
- Hereditary ataxia with onset in adulthood
- Pulmonary fibrosis familial
- Familial melanoma
- Mosaic skin disorders - deep sequencing
- Polycystic liver disease
- Childhood solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- COVID-19 research
- Surfactant deficiency
- Sarcoma susceptibility
- Childhood interstitial lung disease
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Fetal anomalies
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q4_22_demote_red was removed from gene: TERT.
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Red was added to TERT. Rating Changed from Green List (high evidence) to Red List (low evidence)
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: TERT were set to
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: tert has been classified as Green List (High Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_22_demote_red tag was added to gene: TERT.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TERT were changed from Dyskeratosis congenita, 613989 to Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: tert has been classified as Green List (High Evidence).
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: TERT was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Dyskeratosis congenita, 613989 for gene: TERT
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TERT.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)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