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GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

Gene: SUOX

Green List (high evidence)
SUOX (sulfite oxidase)
EnsemblGeneIds (GRCh38): ENSG00000139531
EnsemblGeneIds (GRCh37): ENSG00000139531
OMIM: 606887, Gene2Phenotype
SUOX is in 10 panels

1 review

Emily Jones (North Bristol NHS Trust)

Green List (high evidence)

Dystonia and choreoathetosis, and ataxia are common in late onset (6-18months) isolated sulfite oxidase deficiency. Numerous variants reported.
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: 0.10

History Filter Activity

9 Jul 2019, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SUOX was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Sulfite oxidase deficiency, 272300 for gene: SUOX

2 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SUOX. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SUOX was added gene: SUOX was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: SUOX was set to