Research panel - Severe Paediatric Disorders
Gene: GH1

GH1 (growth hormone 1)
EnsemblGeneIds (GRCh38): ENSG00000259384
EnsemblGeneIds (GRCh37): ENSG00000259384
OMIM: 139250, Gene2Phenotype
GH1 is in 4 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GH1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Growth hormone deficiency, isolated, type IA, 262400 (3) | Growth hormone deficiency, isolated, type IB, 612781 (3) | Growth hormone deficiency, isolated, type II, 173100 (3) | Kowarski syndrome, 262650 (3); Mode of inheritance: Autosomal recessive | ND | Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:19 p.m.
Last Modified: 20 Feb 2020, 5:19 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Growth hormone deficiency, isolated, type IA, 262400
Kowarski syndrome, 262650
Growth hormone deficiency, isolated, type IB, 612781
Growth hormone deficiency, isolated, type II, 173100

OMIM

139250

Clinvar variants

Variants in GH1

Penetrance

None

Publications

30847515

Panels with this gene