Genomics England
GMS Panels
Panels
Genes and Entities

SNX14

sorting nexin 14
OMIM: 616105
PanelMode of inheritanceDetails
5 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 3.1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia (#616354), Spinocerebellar ataxia, autosomal recessive 20, 616354
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA
Green
in Hereditary ataxia - adult onset
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia (#616354), Autosomal recessive spinocerebellar ataxia 20, 616354
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA