Genomics England
GMS Panels
Panels
Genes and Entities

SPTBN2

spectrin beta, non-erythrocytic 2
OMIM: 604985
PanelMode of inheritanceDetails
4 panels
Green
in Ataxia and cerebellar anomalies - childhood onset
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies, childhood onset
Signed-off version 9.22
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia 5, OMIM:600224, Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
SCA14, Infantile ataxia with oculomotor and pyramidal signs
Green
in Hereditary ataxia, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia 5, OMIM:600224, Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386