Cerebellar hypoplasia
Gene: TERTEnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 29 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Cerebellar hypoplasia (without ataxia) has been identified in 2/5 unrelated AR cases 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, 10:51 a.m. | Last Modified: 18 Nov 2022, 10:51 a.m.
Panel Version: 1.69
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Publications
Alice Gardham (Genomics England)
Listed in G2P. Known to cause dyskeratosis congenital. One report of more severe phenotype of Hoyeraal-Hreidarsson syndromeCreated: 14 Nov 2016, 2:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
dyskeratosis congenita-2
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- Complete
- 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
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: TERT were set to 17785587; 16247010
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 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
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TERT were set to 17785587;16247010
Added New Source
Alice Gardham (Genomics England)TERT was added to Cerebellar hypoplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Literature,UKGTN
Created
Alice Gardham (Genomics England)TERT was created by agardham