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  3. SNX14
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Ataxia - paediatric

Gene: SNX14

Green List (high evidence)
SNX14 (sorting nexin 14)
EnsemblGeneIds (GRCh38): ENSG00000135317
EnsemblGeneIds (GRCh37): ENSG00000135317
OMIM: 616105, Gene2Phenotype
SNX14 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal recessive spinocerebellar ataxia-20 is a neurodevelopmental disorder characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy.

More than 5 unrelated families reported.
Created: 27 Mar 2022, 5:13 a.m. | Last Modified: 27 Mar 2022, 5:13 a.m.
Panel Version: 0.12022

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354)

Publications

Created: 27 Mar 2022, 5:13 a.m.
Last Modified: 27 Mar 2022, 5:13 a.m.
Panel version: Imported from Mendeliome panel version 0.12022

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 20, 616354
  • Autosomal recessive spinocerebellar ataxia (#616354)
OMIM
616105
Clinvar variants
Variants in SNX14
Penetrance
None
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SNX14 was added gene: SNX14 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNX14 were set to Autosomal recessive spinocerebellar ataxia 20, 616354; Autosomal recessive spinocerebellar ataxia (#616354)