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Newborns main panel

Gene: GH1

Green List (high evidence)
GH1 (growth hormone 1)
EnsemblGeneIds (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: 0.469
Created: 26 Sep 2024, 1:53 p.m.
Last Modified: 26 Sep 2024, 1:53 p.m.
Panel version: 0.469

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: 0.137
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: 0.134
High level of sequence homology between GH1 and other genes in the human growth hormone cluster
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Isolated growth hormone deficiency type 1A, autosomal recessive
Tags
special_consideration
OMIM
139250
Clinvar variants
Variants in GH1
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: GH1.

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GH1 were changed from Isolated growth hormone deficiency type 1A to Isolated growth hormone deficiency type 1A, autosomal recessive

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Isolated growth hormone deficiency type 1A for gene: GH1

5 Jul 2023, Gel status: 3

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 1A for gene: GH1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: GH1 were changed from Isolated growth hormone deficiency type 1B; Isolated growth hormone deficiency type 1A to Isolated growth hormone deficiency type 1A

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to GH1. Added phenotypes Isolated growth hormone deficiency type 1A for gene: GH1 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

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)

27 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Isolated growth hormone deficiency type 1B for gene: GH1

27 Mar 2023, Gel status: 2

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 main panel. Sources: Expert Review Amber Mode of inheritance for gene: GH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GH1 were set to Isolated growth hormone deficiency type 1A