Ataxia and cerebellar anomalies - narrow panelGene: DHDDS
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 28 Oct 2021, 2:43 p.m. | Last Modified: 28 Oct 2021, 2:43 p.m.
Panel Version: 2.243
Monoallelic variants are associated with a neurodevelopmental disorder comprising infantile or childhood-onset DD/ID, epilepsy and a variable movement phenotype which typically initially manifests as action myoclonus/cortical tremor and in some cases ataxia - at least 11 unrelated cases of ataxia reported in literature.
Created: 28 Oct 2021, 2:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Developmental delay and seizures with or without movement abnormalities, OMIM:617836
Gene: dhdds has been classified as Amber List (Moderate Evidence).
gene: DHDDS was added gene: DHDDS was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Q4_21_rating tags were added to gene: DHDDS. Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DHDDS were set to 29100083; 33798445; 34182312; 34382076 Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, OMIM:617836 Review for gene: DHDDS was set to GREEN