Cerebellar and Pontocerebellar Hypoplasia

Gene: TERT

Amber List (moderate evidence)

TERT (telomerase reverse transcriptase)
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 12 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

1 patient reported with cerebellar hypoplasia.

Marrone (2007): Reported hom missense (not in gnomAD) in 1 patient from consang fam with Hoyeraal-Hreidarsson syndrome, which is a severe variant of DKC
Sources: Expert Review
Created: 27 Apr 2020, 12:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autosomal Recessive Dyskeratosis Congenita 4 (MIM#613989)

Publications

History Filter Activity

27 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tert has been classified as Amber List (Moderate Evidence).

27 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tert has been classified as Amber List (Moderate Evidence).

27 Apr 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

gene: TERT was added gene: TERT was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TERT were set to 17785587 Phenotypes for gene: TERT were set to Autosomal Recessive Dyskeratosis Congenita 4 (MIM#613989) Review for gene: TERT was set to AMBER