Metal Metabolism Disorders
Gene: MOCS2
MOCS2 (molybdenum cofactor synthesis 2)
EnsemblGeneIds (GRCh38): ENSG00000164172
EnsemblGeneIds (GRCh37): ENSG00000164172
OMIM: 603708, Gene2Phenotype
MOCS2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000164172
EnsemblGeneIds (GRCh37): ENSG00000164172
OMIM: 603708, Gene2Phenotype
MOCS2 is in 12 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0009644
- Disorders of molybdenum cofactor metabolism
- OMIM
- 603708
- Clinvar variants
- Variants in MOCS2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Metal Metabolism Disorders
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cerebral Palsy
History Filter Activity
20 May 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MOCS2 was added gene: MOCS2 was added to Metal Metabolism Disorders. Sources: Expert Review Green Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOCS2 were set to 27604308, 10053004 Phenotypes for gene: MOCS2 were set to sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0009644; Disorders of molybdenum cofactor metabolism