Ataxia and cerebellar anomalies - narrow panelGene: DKC1
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
Dyskeratosis congenita, X-linked, MIM# 305000
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