Miscellaneous Metabolic Disorders
Gene: MOCS1EnsemblGeneIds (GRCh38): ENSG00000124615
EnsemblGeneIds (GRCh37): ENSG00000124615
OMIM: 603707, Gene2Phenotype
MOCS1 is in 13 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association(see OMIM entry). Molybdenum cofactor deficiency is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of non-protein vitamin cofactor metabolism.
Sources: NHS GMSCreated: 7 Feb 2021, 1:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Molybdenum cofactor deficiency A MIM#252150; Disorders of molybdenum cofactor metabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Molybdenum cofactor deficiency A MIM#252150
- Disorders of molybdenum cofactor metabolism
- Tags
- 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
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: MOCS1.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mocs1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mocs1 has been classified as Green List (High Evidence).
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 Miscellaneous Metabolic Disorders. Sources: NHS GMS 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 Molybdenum cofactor deficiency A MIM#252150; Disorders of molybdenum cofactor metabolism Review for gene: MOCS1 was set to GREEN gene: MOCS1 was marked as current diagnostic