Ataxia and cerebellar anomalies - narrow panel
Gene: TERT
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
Tag watchlist tag was added to gene: TERT.
Gene: tert has been classified as Amber List (Moderate Evidence).
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
Mode of inheritance for gene: TERT was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Gene: tert has been classified as Red List (Low Evidence).
Mode of inheritance for gene: TERT was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Rebecca Foulger: Comment on list classification
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