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Prepair 1000+

Gene: SUOX

Green List (high evidence)

SUOX (sulfite oxidase)
EnsemblGeneIds (GRCh38): ENSG00000139531
EnsemblGeneIds (GRCh37): ENSG00000139531
OMIM: 606887, Gene2Phenotype
SUOX is in 14 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Isolated sulfite oxidase deficiency (ISOD) is a rare type of life-threatening neurometabolic disorder (PMID: 35679912).

The clinical presentation varies from typical severe disease with prenatal-neonatal onset to rarer, atypical, mild to moderate disease with post-neonatal onset. Among atypical presentations, the onset of symptoms from 6 months onward is
defined as late-onset ISOD. Late-onset ISOD occurs in children who were mostly previously asymptomatic and is often precipitated by intercurrent illness or trivial head trauma. The most common clinical manifestation is acute encephalopathy characterized by developmental regression (transient or permanent), seizures, abnormal muscle tone and/or movement disorder (PMID: 39676698).

Genotype-phenotype analysis demonstrated patients with biallelic missense mutations had milder symptoms, later age of onset, and a higher incidence of regression than other genotypes (PMID: 36303223).
Created: 20 Jan 2025, 9:50 p.m. | Last Modified: 20 Jan 2025, 9:50 p.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
9428520; 15952210; 31127934; 39676698; 36303223

Publications

  • Sulfite oxidase deficiency MIM#272300

History Filter Activity

24 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SUOX were changed from Sulfite oxidase deficiency, 272300 (3) to Sulfite oxidase deficiency MIM#272300

24 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SUOX were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Sulfite oxidase deficiency, 272300 (3) for gene: SUOX

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SUOX was added gene: SUOX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency, 272300 (3)