Miscellaneous Metabolic Disorders

Gene: GPHN

Green List (high evidence)

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

4 cases in 2 unrelated families and a supporting null mouse model.
Sources: NHS GMS
Created: 7 Feb 2021, 2:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Molybdenum cofactor deficiency C MIM#615501; Disorders of molybdenum cofactor metabolism

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Molybdenum cofactor deficiency C MIM#615501
  • Disorders of molybdenum cofactor metabolism
OMIM
603930
Clinvar variants
Variants in GPHN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

7 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GPHN was added gene: GPHN was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPHN were set to 27604308; 11095995; 22040219; 9812897 Phenotypes for gene: GPHN were set to Molybdenum cofactor deficiency C MIM#615501; Disorders of molybdenum cofactor metabolism Review for gene: GPHN was set to GREEN