Aminoacidopathy
Gene: SUOX
SUOX (sulfite oxidase)
EnsemblGeneIds (GRCh38): ENSG00000139531
EnsemblGeneIds (GRCh37): ENSG00000139531
OMIM: 606887, Gene2Phenotype
SUOX is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000139531
EnsemblGeneIds (GRCh37): ENSG00000139531
OMIM: 606887, Gene2Phenotype
SUOX is in 14 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Well established gene-disease association (reported in >40 patients).
Classified Definitive by Aminoacidopathy GCEP on 22/03/2019 - https://search.clinicalgenome.org/CCID:006301
Sources: ClinGenCreated: 18 Jul 2024, 1:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
isolated sulfite oxidase deficiency MONDO:0010089
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- isolated sulfite oxidase deficiency MONDO:0010089
- 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
18 Jul 2024, 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).
18 Jul 2024, 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).
18 Jul 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: SUOX was added gene: SUOX was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUOX were set to 28980090 Phenotypes for gene: SUOX were set to isolated sulfite oxidase deficiency MONDO:0010089 Review for gene: SUOX was set to GREEN