Albinism or congenital nystagmus
Gene: SETXThe mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 3:26 p.m. | Last Modified: 30 Jan 2023, 3:26 p.m.
Panel Version: 2.3
The Q2_22_MOI tag has been added to this gene as the MOI should be changed to BIALLELIC, autosomal or pseudoautosomal, as Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 is the relevant phenotype for this panel.Created: 19 Apr 2022, 10:47 a.m. | Last Modified: 19 Apr 2022, 10:50 a.m.
Panel Version: 1.23
Comment on phenotypes: SETX are also associated with Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433, but this phenotype is not relevant to the Albinism or congenital nystagmus panelCreated: 19 Apr 2022, 10:39 a.m. | Last Modified: 19 Apr 2022, 10:39 a.m.
Panel Version: 1.23
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Tag Q2_22_MOI was removed from gene: SETX.
Source NHS GMS was added to SETX. Mode of inheritance for gene SETX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Tag Q2_22_MOI tag was added to gene: SETX.
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 1, OMIM:606002
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)
Gene: setx has been classified as Green List (High Evidence).
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