Miscellaneous Metabolic Disorders
Gene: MOCS2EnsemblGeneIds (GRCh38): ENSG00000164172
EnsemblGeneIds (GRCh37): ENSG00000164172
OMIM: 603708, Gene2Phenotype
MOCS2 is in 12 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, 1:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Molybdenum cofactor deficiency B MIM#252160; 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 B MIM#252160
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mocs2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mocs2 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: MOCS2 was added gene: MOCS2 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS 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 Molybdenum cofactor deficiency B MIM#252160; Disorders of molybdenum cofactor metabolism Review for gene: MOCS2 was set to GREEN gene: MOCS2 was marked as current diagnostic