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Undiagnosed metabolic disorders

Gene: GPHN

Green List (high evidence)

GPHN (gephyrin)
EnsemblGeneIds (GRCh38): ENSG00000171723
EnsemblGeneIds (GRCh37): ENSG00000171723
OMIM: 603930, Gene2Phenotype
GPHN is in 6 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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

Phenotypes
epileptic encephalopathy; Molybdenum cofactor deficiency C 615501

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism)
  • epileptic encephalopathy
  • Molybdenum cofactor deficiency C 615501
Tags
treatable deletions
OMIM
603930
Clinvar variants
Variants in GPHN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Feb 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

24 Feb 2017, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

GPHN was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Green Model of inheritance for gene GPHN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GPHN was created by sleigh

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

GPHN was added to Undiagnosed metabolic disorderspanel. Sources: Literature