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 - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.0
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 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SCA14, Infantile ataxia with oculomotor and pyramidal signs
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia 5, OMIM:600224, Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386