SNX14

sorting nexin 14
OMIM: 616105
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia (#616354), Autosomal recessive spinocerebellar ataxia 20, 616354
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
ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA