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Gene: MOCS1

Green List (high evidence)
MOCS1 (molybdenum cofactor synthesis 1)
EnsemblGeneIds (GRCh38): ENSG00000124615
EnsemblGeneIds (GRCh37): ENSG00000124615
OMIM: 603707, Gene2Phenotype
MOCS1 is in 13 panels

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- Well established gene-disease association, over 20 families reported.
- Rare metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation.
- Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH) and sulfite oxidase (SUOX), both of which use molybdenum as a cofactor.
- OMIM: affected individuals often die in early childhood.
Created: 6 Jan 2025, 2:33 a.m. | Last Modified: 6 Jan 2025, 2:33 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Molybdenum cofactor deficiency A (MIM#252150)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Jan 2025, 2:33 a.m.
Last Modified: 6 Jan 2025, 2:33 a.m.
Panel version: 1.992

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mocs1 has been classified as Green List (High Evidence).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MOCS1 were changed from Molybdenum cofactor deficiency A, 252150 (3) to Molybdenum cofactor deficiency A, MIM#252150

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MOCS1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Molybdenum cofactor deficiency A, 252150 (3) for gene: MOCS1

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MOCS1 was added gene: MOCS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A, 252150 (3)