Calcium and Phosphate disorders
Gene: SGK3
SGK3 (serum/glucocorticoid regulated kinase family member 3)
EnsemblGeneIds (GRCh38): ENSG00000104205
EnsemblGeneIds (GRCh37): ENSG00000104205
OMIM: 607591, Gene2Phenotype
SGK3 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000104205
EnsemblGeneIds (GRCh37): ENSG00000104205
OMIM: 607591, Gene2Phenotype
SGK3 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
SGK3 c.979-96T>A reported to segregate in the single family is more common in gnomAD v4.1 than expected for a dominant disease: global allele frequency of 0.004729 (0.5%, 5,882/1,243,870 alleles, 27 homozygotes in gnomAD v4.1).
A knockout mouse model had decreased bone density and increased phosphaturia.
Sources: LiteratureCreated: 3 Jul 2024, 8:43 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
- Literature
- Phenotypes
-
- Hypophosphatemic rickets
- OMIM
- 607591
- Clinvar variants
- Variants in SGK3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
3 Jul 2024, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: sgk3 has been classified as Red List (Low Evidence).
3 Jul 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SGK3 was added gene: SGK3 was added to Calcium and Phosphate disorders. 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; 21451460 Phenotypes for gene: SGK3 were set to Hypophosphatemic rickets Review for gene: SGK3 was set to RED