Growth failure in early childhood
Gene: GH1EnsemblGeneIds (GRCh38): ENSG00000259384
EnsemblGeneIds (GRCh37): ENSG00000259384
OMIM: 139250, Gene2Phenotype
GH1 is in 4 panels
1 review
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.Created: 30 May 2019, 9:49 a.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Growth hormone deficiency
- OMIM
- 139250
- Clinvar variants
- Variants in GH1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added New Source, Status Update
Rebecca Foulger (Genomics England curator)Source Expert Review Red was added to GH1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: GH1 was added gene: GH1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GH1 were set to Growth hormone deficiency