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Inborn errors of metabolism

Gene: MOCS2

Green List (high evidence)

MOCS2 (molybdenum cofactor synthesis 2)
EnsemblGeneIds (GRCh38): ENSG00000164172
EnsemblGeneIds (GRCh37): ENSG00000164172
OMIM: 603708, Gene2Phenotype
MOCS2 is in 7 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in at least 8 unrelated cases, together with supportive functional studies.
Created: 19 Aug 2019, 11:10 a.m. | Last Modified: 19 Aug 2019, 11:10 a.m.
Panel Version: 1.184
Comment on phenotypes: Intellectual disability;Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism)
Created: 19 Aug 2019, 11:03 a.m. | Last Modified: 19 Aug 2019, 11:03 a.m.
Panel Version: 1.182

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Molybdenum cofactor deficiency B 252160
OMIM
603708
Clinvar variants
Variants in MOCS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

19 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MOCS2 were set to 27604308

19 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MOCS2 were changed from Intellectual disability; Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism) to Molybdenum cofactor deficiency B 252160

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MOCS2. Source London North GLH was added to MOCS2.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: MOCS2 was added gene: MOCS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOCS2 were set to 27604308 Phenotypes for gene: MOCS2 were set to Intellectual disability; Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism)