Albinism or congenital nystagmus

Gene: SETX

Green List (high evidence)

SETX (senataxin)
EnsemblGeneIds (GRCh38): ENSG00000107290
EnsemblGeneIds (GRCh37): ENSG00000107290
OMIM: 608465, Gene2Phenotype
SETX is in 14 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Jonathan Callaway (Wessex Regional Genetics Laboratory) February 2019. Suggested intial gene rating: Green; Comments provided: Comments from OMIM: Oculomotor apraxia is a common but inconsistent finding in spinocerebellar ataxia 1, found in about 50% of patients; hence this disorder is sometimes referred to as 'ataxia-oculomotor apraxia-2' (AOA2). Gaze-evoked nystagmus has been reported in AOA2 patients. Comments from HGMDpro: STRONG EVIDENCE: Total of 216 variants: split between ALS and AOA phenotypes. 128 variants with the reported phenotype of ataxia-ocular apraxia 2 (AOA2). Only one variant with a phenotype which specifically includes nystagmus as part of an ataxia phenotype. However, nystagmus has been reported in AOA2 patients.
Created: 13 Feb 2019, 11:41 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR

History Filter Activity

20 Mar 2019, Gel status: 3

Set Phenotypes, Status Update

Ivone Leong (Genomics England Curator)

Added phenotypes Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR for gene: SETX Rating Changed from Green List (high evidence) to Green List (high evidence)

13 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

13 Feb 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: SETX was added gene: SETX was added to Albinism or congenital nystagmus. Sources: Expert list 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