Genomics England
GMS Panels
Panels
Genes and Entities

CWF19L1

CWF19 like 1, cell cycle control (S. pombe)
OMIM: 616120
PanelMode of inheritanceDetails
4 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 6.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 17, 616127
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CWF19L1-related developmental delay with epilepsy, progressive ataxia and cerebellar atrophy
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 6.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 17, 616127, Autosomal recessive spinocerebellar ataxia type 17, 616127
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 17, 616127, intellectual disability, developmental delay