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Growth failure
Gene: GHSR

GHSR (growth hormone secretagogue receptor)
EnsemblGeneIds (GRCh38): ENSG00000121853
EnsemblGeneIds (GRCh37): ENSG00000121853
OMIM: 601898, Gene2Phenotype
GHSR is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three families reported, two with mono-allelic variant (same variant ?founder) and one with bi-allelic.
Created: 24 Aug 2021, 4:33 a.m. | Last Modified: 24 Aug 2021, 4:33 a.m.

Panel Version: 0.317

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Growth hormone deficiency, isolated partial, MIM# 615925

Publications

Created: 24 Aug 2021, 4:33 a.m.
Last Modified: 24 Aug 2021, 4:33 a.m.
Panel version: 0.320

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Amber
Genomics England PanelApp

Phenotypes

Growth hormone deficiency, isolated partial, MIM# 615925

OMIM

Clinvar variants

Variants in GHSR

Penetrance

None

Publications

Panels with this gene

History Filter Activity

24 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ghsr has been classified as Amber List (Moderate Evidence).

24 Aug 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GHSR were changed from Idiopathic short stature, GH deficiency to Growth hormone deficiency, isolated partial, MIM# 615925

24 Aug 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GHSR were set to 16511605

24 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ghsr has been classified as Amber List (Moderate Evidence).

19 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GHSR was added gene: GHSR was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: GHSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GHSR were set to 16511605 Phenotypes for gene: GHSR were set to Idiopathic short stature, GH deficiency