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Prepair 1000+

Gene: GPHN

Green List (high evidence)
GPHN (gephyrin)
EnsemblGeneIds (GRCh38): ENSG00000171723
EnsemblGeneIds (GRCh37): ENSG00000171723
OMIM: 603930, Gene2Phenotype
GPHN is in 10 panels

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Molybdenum cofactor deficiency (MOCOD) is a 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 and sulfite oxidase.

At least two families reported with molybdenum cofactor deficiency caused by bi-allelic variants and bi-allelic variants reported in a family with epilepsy.

Onset at birth or early infancy, often results in death in childhood (OMIM).
Created: 15 Oct 2024, 10:53 p.m. | Last Modified: 15 Oct 2024, 10:53 p.m.
Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Molybdenum cofactor deficiency C, MIM#615501

Publications

Created: 15 Oct 2024, 10:53 p.m.
Last Modified: 15 Oct 2024, 10:53 p.m.
Panel version: 1.420

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Molybdenum cofactor deficiency C, 615501 (3)
OMIM
603930
Clinvar variants
Variants in GPHN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: GPHN were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GPHN was added gene: GPHN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPHN were set to Molybdenum cofactor deficiency C, 615501 (3)