Genomics England

vaccinia related kinase 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia type 1A, OMIM:607596
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 1
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 3.24	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Distal hereditary motor neuropathy
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia type 1A, 607596, PONTOCEREBELLAR HYPOPLASIA TYPE 1
Green in Paediatric motor neuronopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia type 1A, OMIM:607596
Green in Severe microcephaly R-numbers: R88 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia type 1A, OMIM:607596