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Fetal anomalies
Gene: MOCS1

MOCS1 (molybdenum cofactor synthesis 1)
EnsemblGeneIds (GRCh38): ENSG00000124615
EnsemblGeneIds (GRCh37): ENSG00000124615
OMIM: 603707, Gene2Phenotype
MOCS1 is in 13 panels

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Presentation in fetal period includes microcephaly, corpus callosal abnormalities, ventriculomegaly, growth restriction
Created: 30 Jan 2022, 10:39 p.m. | Last Modified: 30 Jan 2022, 10:39 p.m.

Panel Version: 0.2942

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Molybdenum cofactor deficiency A, MIM# 252150

Created: 30 Jan 2022, 10:39 p.m.
Last Modified: 30 Jan 2022, 10:39 p.m.
Panel version: 0.2942

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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, 4:45 a.m. | Last Modified: 1 Sep 2020, 4:45 a.m.

Panel Version: 0.2911

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Molybdenum cofactor deficiency A, MIM# 252150

Publications

Created: 1 Sep 2020, 4:45 a.m.
Last Modified: 1 Sep 2020, 4:45 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2911

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

Molybdenum cofactor deficiency A, MIM# 252150

OMIM

603707

Clinvar variants

Variants in MOCS1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MOCS1 were set to

30 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: mocs1 has been classified as Green List (High Evidence).

30 Jan 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: MOCS1 were changed from MOLYBDENUM COFACTOR DEFICIENCY to Molybdenum cofactor deficiency A, MIM# 252150

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MOCS1 was added gene: MOCS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOCS1 were set to MOLYBDENUM COFACTOR DEFICIENCY

Fetal anomalies Gene: MOCS1