Newborns additional phenotypes panel 2
Gene: GH1EnsemblGeneIds (GRCh38): ENSG00000259384
EnsemblGeneIds (GRCh37): ENSG00000259384
OMIM: 139250, Gene2Phenotype
GH1 is in 4 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Special Consideration: Multiple phenotypes with different MOIs included.
Additional Information: AR isolated growth hormone deficiency 1A and 1B included. May be difficult to distinguish based on genotype alone. AD isolated growth hormone deficiency type II also included. This is usually caused by variants which affect splicing, particularly of exon 3 (PMID: 22139958).Created: 26 Sep 2024, 1:53 p.m. | Last Modified: 26 Sep 2024, 1:53 p.m.
Panel Version: 0.27
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is dominant-negative (DN).Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.8
Mutations in GH1 gene and isolated growth hormone deficiency (IGHD): A familial case of IGHD type I and systematic review - PubMed (nih.gov)Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.5
Usually caused by mutations which affect splicing. Particularly splicing of exon 3. High level of sequence homology between GH1 and other genes in the human growth hormone clusterCreated: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.4
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Isolated growth hormone deficiency type II, autosomal dominant
- Tags
- OMIM
- 139250
- Clinvar variants
- Variants in GH1
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag special_consideration tag was added to gene: GH1.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: GH1 were changed from Growth hormone deficiency, isolated, type II to Isolated growth hormone deficiency type II, autosomal dominant
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Growth hormone deficiency, isolated, type II for gene: GH1
Set mode of inheritance
Mafalda Gomes (Genomics England Curator)Mode of inheritance for gene: GH1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to GH1. Mode of inheritance for gene GH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Growth hormone deficiency, isolated, type II for gene: GH1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Mafalda Gomes (Genomics England Curator)gene: GH1 was added gene: GH1 was added to Newborns additional phenotypes panel 2. Sources: Expert Review Amber Mode of inheritance for gene: GH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GH1 were set to Growth hormone deficiency, isolated, type II Mode of pathogenicity for gene: GH1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments