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  2. Renal Tubulopathies and related disorders
  3. MOCOS
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Renal Tubulopathies and related disorders

Gene: MOCOS

Green List (high evidence)
MOCOS (molybdenum cofactor sulfurase)
EnsemblGeneIds (GRCh38): ENSG00000075643
EnsemblGeneIds (GRCh37): ENSG00000075643
OMIM: 613274, Gene2Phenotype
MOCOS is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Most individuals with type II xanthinuria are asymptomatic, but some develop urinary tract calculi, acute renal failure, or myositis due to tissue deposition of xanthine.

At least 5 unrelated families and two animal models.
Sources: Expert Review
Created: 14 Aug 2021, 2:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xanthinuria type II, MIM#603592

Publications

Created: 14 Aug 2021, 2:57 a.m.

Panel version: Imported from Nephrolithiasis and Nephrocalcinosis panel version 0.53

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Expert Review
Phenotypes
  • Xanthinuria type II, MIM#603592
OMIM
613274
Clinvar variants
Variants in MOCOS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MOCOS was added gene: MOCOS was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: MOCOS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOCOS were set to 17368066; 34356852; 11302742; 32073534; 14624414; 27919260; 25967871; 30758870 Phenotypes for gene: MOCOS were set to Xanthinuria type II, MIM#603592