Hypophosphataemia or rickets
Gene: SGK3
SGK3 (serum/glucocorticoid regulated kinase family member 3)
EnsemblGeneIds (GRCh38): ENSG00000104205
EnsemblGeneIds (GRCh37): ENSG00000104205
OMIM: 607591, Gene2Phenotype
SGK3 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000104205
EnsemblGeneIds (GRCh37): ENSG00000104205
OMIM: 607591, Gene2Phenotype
SGK3 is in 1 panel
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark. As there is only 1 case there is not enough evidence to support a gene-disease assocation. This gene has been given a Red review.Created: 12 Oct 2020, 1:53 p.m. | Last Modified: 12 Oct 2020, 1:53 p.m.
Panel Version: 2.6
Zornitza Stark (Australian Genomics)
5 individuals from one family where a splice site variant segregated with disease.
Sources: LiteratureCreated: 8 Aug 2020, 4:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypophosphatemic rickets
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Hypophosphatemic rickets
- OMIM
- 607591
- Clinvar variants
- Variants in SGK3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
12 Oct 2020, Gel status: 1
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: sgk3 has been classified as Red List (Low Evidence).
8 Aug 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: SGK3 was added gene: SGK3 was added to Hypophosphataemia or rickets. Sources: Literature Mode of inheritance for gene: SGK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SGK3 were set to 31821448 Phenotypes for gene: SGK3 were set to Hypophosphatemic rickets Review for gene: SGK3 was set to RED