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  3. GH1
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Pituitary hormone deficiency

Gene: GH1

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

1 review

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Jan 2019, 12:02 p.m.
GH1 is confirmed to be associated with isolated growth hormone deficiency in OMIM but not in Gene2Phenotype. There are >3 unrelated cases of patients with growth hormone deficiency who have variants in GH1.
Created: 10 Dec 2018, 1:21 p.m.
Created: 10 Dec 2018, 1:21 p.m.

Panel version: 0.71

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Growth hormone deficiency, isolated, type IA, OMIM:262400
  • Growth hormone deficiency, isolated, type IB, OMIM:612781
  • Growth hormone deficiency, isolated, type II, OMIM:173100
OMIM
139250
Clinvar variants
Variants in GH1
Penetrance
None
Panels with this gene

History Filter Activity

1 Apr 2025, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GH1 were changed from Growth hormone deficiency, isolated, type II (173100); Growth hormone deficiency, isolated, type IA (262400); Growth hormone deficiency, isolated, type IB (612781) to Growth hormone deficiency, isolated, type IA, OMIM:262400; Growth hormone deficiency, isolated, type IB, OMIM:612781; Growth hormone deficiency, isolated, type II, OMIM:173100

30 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: GH1 is confirmed to be associa

8 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: gh1 has been classified as Green List (High Evidence).

10 Dec 2018, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: GH1 was added gene: GH1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature 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, isolated, type II (173100); Growth hormone deficiency, isolated, type IA (262400); Growth hormone deficiency, isolated, type IB (612781)