Ataxia and cerebellar anomalies - narrow panel
Gene: TERTEnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 panels
1 review
Arina Puzriakova (Genomics England Curator)
Cerebellar hypoplasia (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).
There is no link with AD form and given the various other non-relevant phenotypes linked to heterozygous variants, AR inheritance is appropriate for this panel.Created: 18 Nov 2022, 10:50 a.m. | Last Modified: 18 Nov 2022, 10:53 a.m.
Panel Version: 2.316
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
- Tags
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- None
- Publications
- Panels with this gene
-
- Surfactant deficiency
- Haematological malignancies for rare disease
- Hereditary ataxia with onset in adulthood
- Sarcoma susceptibility
- Ataxia and cerebellar anomalies - narrow panel
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Familial melanoma
- Mosaic skin disorders - deep sequencing
- Skeletal dysplasia
- Fetal anomalies
- Polycystic liver disease
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Familial pulmonary fibrosis
- Cerebellar hypoplasia
- Haematological malignancies cancer susceptibility
- Intestinal failure or congenital diarrhoea
- Pigmentary skin disorders
- COVID-19 research
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag watchlist tag was added to gene: TERT.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: tert has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TERT were changed from Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 to Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: TERT was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: tert has been classified as Red List (Low Evidence).
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: TERT was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TERT were changed from dyskeratosis congenita-2 to Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TERT was added gene: TERT was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TERT were set to 17785587; 16247010 Phenotypes for gene: TERT were set to dyskeratosis congenita-2