Cerebellar hypoplasia

Gene: TERT

Amber List (moderate evidence)

TERT (telomerase reverse transcriptase)
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 26 panels

1 review

Alice Gardham (Genomics England)

I don't know

Listed in G2P. Known to cause dyskeratosis congenital. One report of more severe phenotype of Hoyeraal-Hreidarsson syndrome
Created: 14 Nov 2016, 2:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
dyskeratosis congenita-2

Publications

History Filter Activity

22 Feb 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

2 Feb 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TERT were set to 17785587;16247010

14 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

TERT was created by agardham

14 Nov 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

TERT was added to Cerebellar hypoplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Literature,UKGTN