Pituitary hormone deficiency
Gene: GHSR
GHSR (growth hormone secretagogue receptor)
EnsemblGeneIds (GRCh38): ENSG00000121853
EnsemblGeneIds (GRCh37): ENSG00000121853
OMIM: 601898, Gene2Phenotype
GHSR is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000121853
EnsemblGeneIds (GRCh37): ENSG00000121853
OMIM: 601898, Gene2Phenotype
GHSR 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.
Comment on list classification: Promoted from amber to green. GHSR is confirmed to be associated with isolated partial growth hormone deficiency in OMIM but no phenotypes are listed in Gene2Phenotype. There are 3 unrelated cases of patients with growth hormone deficiency who have variants in the GHSR gene.Created: 14 Dec 2018, 3:55 p.m.
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
- Phenotypes
-
- Growth hormone deficiency, isolated partial (615925)
- OMIM
- 601898
- Clinvar variants
- Variants in GHSR
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
30 Jan 2019, Gel status: 3
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Comment on list classification
8 Jan 2019, Gel status: 3
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: ghsr has been classified as Green List (High Evidence).
14 Dec 2018, Gel status: 3
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: ghsr has been classified as Green List (High Evidence).
14 Dec 2018, Gel status: 2
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: GHSR were set to
10 Dec 2018, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: GHSR was added gene: GHSR was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: GHSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GHSR were set to Growth hormone deficiency, isolated partial (615925)