Congenital nystagmus
Gene: SETXEnsemblGeneIds (GRCh38): ENSG00000107290
EnsemblGeneIds (GRCh37): ENSG00000107290
OMIM: 608465, Gene2Phenotype
SETX is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Nystagmus/oculomotor apraxia is a feature, onset is typically in young adulthood, though onset in early childhood reported.Created: 27 Oct 2021, 6:07 a.m. | Last Modified: 27 Oct 2021, 6:07 a.m.
Panel Version: 0.130
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- NHS Genomic Medicine Service
- Phenotypes
-
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002
- OMIM
- 608465
- Clinvar variants
- Variants in SETX
- Penetrance
- None
- Panels with this gene
-
- Motor Neurone Disease
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Incidentalome
- Early-onset Dementia
- Additional findings_Paediatric
- Prepair 1000+
- Hereditary Neuropathy - complex
- Dystonia - complex
- Ataxia - adult onset
- BabyScreen+ newborn screening
- Congenital nystagmus
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: setx has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SETX were changed from Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SETX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Added phenotypes Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR for gene: SETX
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SETX was added gene: SETX was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: SETX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SETX were set to Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR