Sulfite Oxidase Deficiency(Sulfocysteinuria) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | SUOX/6821 | sulfite oxidase | 12q13.2 | Chr12, NC_000012.12 (55997276..56005525) |
8250 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | GPHN/10243 | gephyrin | 14q23.3 | Chr14, NC_000014.9 (66508147..67735355) |
1227209 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | MOCS2/4338 | molybdenum cofactor synthesis 2 | 5q11.2 | Chr5, NC_000005.10 (53095679..53109757, complement) |
14079 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | MOCS1/4337 | molybdenum cofactor synthesis 1 | 6p21.2 | Chr6, NC_000006.12 (39904170..39934462, complement) |
30293 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |