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Prepair 1000+

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

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

SNX14, HGNC:14977. From OMIM; Autosomal recessive spinocerebellar ataxia-20 is a neurodevelopmental disorder characterized by severely delayed psychomotor development with poor or absent speech, moderate-severe intellectual disability, wide-based or absent gait, coarse facies, and cerebellar atrophy.
More than 5 unrelated families reported.
Created: 3 Feb 2025, 6:40 a.m. | Last Modified: 3 Feb 2025, 6:40 a.m.
Panel Version: 1.1397

Phenotypes
Spinocerebellar ataxia, autosomal recessive 20 MIM#616354

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 20 MIM#616354
OMIM
616105
Clinvar variants
Variants in SNX14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: snx14 has been classified as Green List (High Evidence).

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SNX14 were changed from Spinocerebellar ataxia, autosomal recessive 20, 616354 (3) to Spinocerebellar ataxia, autosomal recessive 20 MIM#616354

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SNX14 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SNX14 was added gene: SNX14 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNX14 were set to Spinocerebellar ataxia, autosomal recessive 20, 616354 (3)