Renal tubulopathies
Gene: EGF
EGF (epidermal growth factor)
EnsemblGeneIds (GRCh38): ENSG00000138798
EnsemblGeneIds (GRCh37): ENSG00000138798
OMIM: 131530, Gene2Phenotype
EGF is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000138798
EnsemblGeneIds (GRCh37): ENSG00000138798
OMIM: 131530, Gene2Phenotype
EGF is in 3 panels
1 review
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: EGF; Suggested initial gene rating: red; Evidence for inclusion: Groenestege et al J. Clin. Invest. 117: 2260-2267, 2007. PubMed: 17671655, 1 family; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none providedCreated: 3 Feb 2019, 11:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomagnesemia 4, renal, MIM 611718.
Publications
- Groenestege et al J. Clin. Invest. 117: 2260-2267, 2007. PubMed: 17671655
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Phenotypes
-
- Hypomagnesemia 4, renal, 611718
- OMIM
- 131530
- Clinvar variants
- Variants in EGF
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
17 Jun 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: EGF were changed from to Hypomagnesemia 4, renal, 611718
17 Jun 2019, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: EGF were set to
3 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: EGF was added gene: EGF was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: EGF was set to