Miscellaneous Metabolic Disorders
Gene: GPHNEnsemblGeneIds (GRCh38): ENSG00000171723
EnsemblGeneIds (GRCh37): ENSG00000171723
OMIM: 603930, Gene2Phenotype
GPHN is in 10 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
4 cases in 2 unrelated families and a supporting null mouse model.
Sources: NHS GMSCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gphn has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gphn has been classified as Green List (High Evidence).
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