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Fetal anomalies

Gene: MOCS3

Amber List (moderate evidence)
MOCS3 (molybdenum cofactor synthesis 3)
EnsemblGeneIds (GRCh38): ENSG00000124217
EnsemblGeneIds (GRCh37): ENSG00000124217
OMIM: 609277, Gene2Phenotype
MOCS3 is in 1 panel

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sunayna Best (Leeds Teaching Hospitals NHS Trust)

I don't know

Huijmans et al 2017: 1 patient, Speech delay, hypertonia, thin corpus callosum (Unconvincing phenotype to be seen on antenatal scan) A/w paper to assess whether functional work done. Tian et al, 2021: 1 infant: early onset of neonatal seizures, hypertonia, feeding difficulty, and severe developmental delay. Scans in pregnancy NAD. Postnatal MRI: occipital lobes cystic encephalomalacia and bilateral basal ganglia atrophy. Metabolic tests supportive of Dx. Only 2 patients, doesn't appear to be convincing functional evidence OR clear prenatal phenotype.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Molybdenum cofactor deficiency, type B2, OMIM:621373

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Molybdenum cofactor deficiency, type B2, OMIM:621373
OMIM
609277
Clinvar variants
Variants in MOCS3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: MOCS3 was added gene: MOCS3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MOCS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOCS3 were set to 33897766; 39695700; 36296488; 28544736 Phenotypes for gene: MOCS3 were set to Molybdenum cofactor deficiency, type B2, OMIM:621373