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Intellectual disability syndromic and non-syndromic

Gene: MOCS2

Green List (high evidence)

MOCS2 (molybdenum cofactor synthesis 2)
EnsemblGeneIds (GRCh38): ENSG00000164172
EnsemblGeneIds (GRCh37): ENSG00000164172
OMIM: 603708, Gene2Phenotype
MOCS2 is in 12 panels

1 review

Chirag Patel (Genetic Health Queensland)

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. DD/ID can be seen in condition.
Created: 3 Oct 2024, 1:12 a.m. | Last Modified: 3 Oct 2024, 1:12 a.m.
Panel Version: 0.6303

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Molybdenum cofactor deficiency B MIM#252160; Disorders of molybdenum cofactor metabolism

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
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

History Filter Activity

5 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mocs2 has been classified as Green List (High Evidence).

5 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MOCS2 were changed from to Molybdenum cofactor deficiency B MIM#252160; Disorders of molybdenum cofactor metabolism

5 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MOCS2 were set to

5 Oct 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MOCS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MOCS2 was added gene: MOCS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MOCS2 was set to Unknown