SPTBN2

spectrin beta, non-erythrocytic 2
OMIM: 604985
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia 5 (AD), Spinocerebellar ataxia, autosomal recessive 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, Spinocerebellar Ataxia, Dominant, Spinocerebellar ataxia, autosomal recessive 14 (AR), Spinocerebellar ataxia 5, SPINOCEREBELLAR ATAXIA 5 (autosomal dominant)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SCA14, Infantile ataxia with oculomotor and pyramidal signs
R-numbers: R54
Signed-off version 2.13
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar Ataxia, Dominant, Autosomal recessive spinocerebellar ataxia 14, 615386, Spinocerebellar ataxia, autosomal recessive 14, Spinocerebellar ataxia 5, Spinocerebellar ataxia 5, 600224, SPINOCEREBELLAR ATAXIA 5 (autosomal dominant), SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
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
Spinocerebellar ataxia, autosomal recessive 14, MIM:615386, Developmental delay