Miscellaneous Metabolic Disorders
Gene: SUOXEnsemblGeneIds (GRCh38): ENSG00000139531
EnsemblGeneIds (GRCh37): ENSG00000139531
OMIM: 606887, Gene2Phenotype
SUOX is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 5 unrelated families reported.
Sources: Expert listCreated: 31 Jan 2021, 9:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sulfite oxidase deficiency, MIM# 272300
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Sulfite oxidase deficiency, MIM# 272300
- OMIM
- 606887
- Clinvar variants
- Variants in SUOX
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Additional findings_Paediatric
- Prepair 1000+
- Dystonia - complex
- Mendeliome
- Brain Calcification
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: suox has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: suox has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SUOX was added gene: SUOX was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUOX were set to 9428520; 15952210; 31127934] Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency, MIM# 272300 Review for gene: SUOX was set to GREEN