Newborns additional phenotypes panel 1
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: 0.100
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is loss-of-function (LOF).Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
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: 0.26
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Isolated growth hormone deficiency type 1B, autosomal recessive
- Tags
- OMIM
- 139250
- Clinvar variants
- Variants in GH1
- Penetrance
- None
- 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 Isolated growth hormone deficiency type 1B to Isolated growth hormone deficiency type 1B, autosomal recessive
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Isolated growth hormone deficiency type 1B for gene: GH1
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to GH1. Added phenotypes Isolated growth hormone deficiency type 1B for gene: GH1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Removed Tag
Mafalda Gomes (Genomics England Curator)Tag dominant-negative was removed from gene: GH1.
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Phenotypes for gene: GH1 were changed from Isolated growth hormone deficiency type 1B; Growth hormone deficiency, isolated, type II to Isolated growth hormone deficiency type 1B
Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Amber 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 Isolated growth hormone deficiency type 1B for gene: GH1 Rating Changed from No List (delete) to Amber List (moderate evidence)
Added New Source, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Removed was added to GH1. Rating Changed from Amber List (moderate evidence) to No List (delete)
Added Tag
Mafalda Gomes (Genomics England Curator)Tag dominant-negative tag was added to gene: GH1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Mafalda Gomes (Genomics England Curator)gene: GH1 was added gene: GH1 was added to Newborns additional phenotypes panel. 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