VRK1

vaccinia related kinase 1
OMIM: 602168
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar Hypoplasia type 1A, Pontocerebellar Hypoplasia with infantile SMA, Pontocerebellar Hypoplasia with anterior horn cell disease, Pontocerebellar Hypoplasia, Pontocerebellar hypoplasia 1A (#607596), Pontocerebellar hypoplasia type 1A,607596
R-numbers: R78
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Distal hereditary motor neuropathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 1A, 607596, PONTOCEREBELLAR HYPOPLASIA TYPE 1
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.30
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 1A 607596