IUGR and IGF abnormalities
Gene: GH1EnsemblGeneIds (GRCh38): ENSG00000259384
EnsemblGeneIds (GRCh37): ENSG00000259384
OMIM: 139250, Gene2Phenotype
GH1 is in 4 panels
2 reviews
Philip Murray (University of Manchester)
Peter Clayton (University of Manchester)
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Growth hormone deficiency
- OMIM
- 139250
- Clinvar variants
- Variants in GH1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for GH1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for GH1 were set to Growth hormone deficiency
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for GH1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()GH1 was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory