Ataxia and cerebellar anomalies - narrow panel
Gene: SETXEnsemblGeneIds (GRCh38): ENSG00000107290
EnsemblGeneIds (GRCh37): ENSG00000107290
OMIM: 608465, Gene2Phenotype
SETX is in 13 panels
1 review
Sarah Leigh (Genomics England Curator)
Biallelic mode of inheritance is correct for this gene on this panel, where Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002 is the relevant phenotype.Created: 19 Apr 2022, 12:33 p.m. | Last Modified: 19 Apr 2022, 12:33 p.m.
Panel Version: 2.294
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002
- OMIM
- 608465
- Clinvar variants
- Variants in SETX
- Penetrance
- None
- Panels with this gene
-
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Albinism or congenital nystagmus
- Paediatric motor neuronopathies
- Hereditary ataxia
- Adult onset neurodegenerative disorder
- Amyotrophic lateral sclerosis/motor neuron disease
- Intellectual disability
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SETX were changed from Ataxia-ocular apraxia-2; ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SETX was added gene: SETX was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SETX were set to Ataxia-ocular apraxia-2; ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia