Metal Metabolism Disorders
Gene: MOCS1
MOCS1 (molybdenum cofactor synthesis 1)
EnsemblGeneIds (GRCh38): ENSG00000124615
EnsemblGeneIds (GRCh37): ENSG00000124615
OMIM: 603707, Gene2Phenotype
MOCS1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000124615
EnsemblGeneIds (GRCh37): ENSG00000124615
OMIM: 603707, Gene2Phenotype
MOCS1 is in 13 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Disorders of molybdenum cofactor metabolism
- sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:0009643
- OMIM
- 603707
- Clinvar variants
- Variants in MOCS1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- Brain Calcification
- 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: MOCS1 was added gene: MOCS1 was added to Metal Metabolism Disorders. Sources: Expert Review Green Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOCS1 were set to 27604308, 9731530 Phenotypes for gene: MOCS1 were set to Disorders of molybdenum cofactor metabolism; sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:0009643