Ataxia - paediatric
Gene: SPTBN2EnsemblGeneIds (GRCh38): ENSG00000173898
EnsemblGeneIds (GRCh37): ENSG00000173898
OMIM: 604985, Gene2Phenotype
SPTBN2 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Both mono-allelic and bi-allelic variants in this gene are associated with childhood-onset ataxia.
Sources: Expert listCreated: 17 Apr 2020, 12:18 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386; Spinocerebellar ataxia 5, MIM# 600224
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386
- Spinocerebellar ataxia 5, MIM# 600224
- OMIM
- 604985
- Clinvar variants
- Variants in SPTBN2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sptbn2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sptbn2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SPTBN2 was added gene: SPTBN2 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPTBN2 were set to 23236289; 23838597; 22781464; 31617442; 31066025 Phenotypes for gene: SPTBN2 were set to Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386; Spinocerebellar ataxia 5, MIM# 600224 Review for gene: SPTBN2 was set to GREEN