Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Cerebellar and Pontocerebellar Hypoplasia v0.88 TERT Zornitza Stark Marked gene: TERT as ready
Cerebellar and Pontocerebellar Hypoplasia v0.88 TERT Zornitza Stark Gene: tert has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.88 TERT Zornitza Stark Classified gene: TERT as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.88 TERT Zornitza Stark Gene: tert has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.53 TERT Crystle Lee 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
Added comment: 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