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Intellectual disability syndromic and non-syndromic

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, 5:15 a.m. | Last Modified: 27 Mar 2022, 5:15 a.m.
Panel Version: 0.4615

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
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

27 Mar 2022, 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).

27 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SNX14 were set to

27 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SNX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SNX14 was added gene: SNX14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SNX14 was set to Unknown