Inborn errors of metabolismGene: GPHN
This gene is linked to Hereditary hyperekplexia and Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C in Orphanet. PMID: 26613940 - homozygous patient with epileptic encephalopathy reported. PMID: 24561070 microdeletions paternally inherited reported in probands with epileptic encephalopathy from 2 families. Perhaps further evidence provided in PMID 25866352 for role of the gene in neurodevelopmental disorders with seizures. PMID 23393157 - 6 additional cases of microdeletions affecting different exons in the gene, in patients with Autism spectrum disorder, seizures or schizophrenia. PMID 23275889 de novo CNV identified in a patient with Autism spectrum disorder. For Molybdenum cofactor deficiency, PMID 22040219 reports a homozygous missense variant in a child with global hypotonia and generalised seizures. PMID 11095995 reports a homozygous deletion in a patient with Molybdenum Cofactor Deficiency. Tagged with the 'treatable' tag as molybdate supplementation according to PMID: 11095995.
Created: 23 Feb 2017, 5:14 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
epileptic encephalopathy; Molybdenum cofactor deficiency C 615501
Source NHS GMS was added to GPHN. Source London North GLH was added to GPHN.
Ellen McDonagh: Comment on mode of pathogenici
gene: GPHN was added gene: GPHN was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GPHN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GPHN were set to 27604308 Phenotypes for gene: GPHN were set to Molybdenum cofactor deficiency C 615501; Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism); epileptic encephalopathy