Genetic Epilepsy

Gene: MOCS1

Green List (high evidence)

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 GMS

Created: 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

• 27604308
• 9731530

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

Green List (high evidence)

Rare autosomal recessive 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. Well established gene-disease association, over 20 families reported.

Created: 1 Sep 2020, 4:43 a.m. | Last Modified: 1 Sep 2020, 4:43 a.m.

Panel Version: 0.825

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Molybdenum cofactor deficiency A, MIM# 252150

Publications

• 9921896
• 12754701
• 21031595

Green List (high evidence)

C-terminal is critical for enzyme activity (Reiss J 2003).

Created: 1 Sep 2020, 1:23 a.m. | Last Modified: 1 Sep 2020, 1:23 a.m.

Panel Version: 0.4059

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Molybdenum cofactor deficiency A 252150

Publications

• PMID: 21031595