Ataxia and cerebellar anomalies - narrow panel
Gene: DKC1
Although ataxia is a rare feature of Dyskeratosis congenita, X-linked OMIM: 305000, cerebella hyplasia is seen; especially amongst cases classified as Hoyeraal-Hreidarsson syndrome (PMID:10700698;18627054;12437656).Created: 14 Apr 2021, 1:29 p.m. | Last Modified: 14 Apr 2021, 1:29 p.m.
Panel Version: 2.95
Ataxia is not a prominent feature of this condition, I can only find one case report, combination of features could be coincidental.Created: 12 Sep 2020, 3:10 a.m. | Last Modified: 12 Sep 2020, 3:10 a.m.
Panel Version: 2.12
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dyskeratosis congenita, X-linked, MIM# 305000
Publications
Publications for gene: DKC1 were set to 9590285; 9886310; 10921354; 33734615; 10583221
Publications for gene: DKC1 were set to 9590285; 9886310; 10921354
Phenotypes for gene: DKC1 were changed from X-linked dyskeratosis congenita to Dyskeratosis congenita, X-linked OMIM:305000; dyskeratosis congenita, X-linked MONDO:0010584
Publications for gene: DKC1 were set to 9590285; 9886310
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: DKC1 was added gene: DKC1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DKC1 were set to 9590285; 9886310 Phenotypes for gene: DKC1 were set to X-linked dyskeratosis congenita