1. Panels
  2. Renal Tubulopathies and related disorders
  3. EGF
STRs in panel
Prev Next
Regions in panel
Prev Next

Renal Tubulopathies and related disorders

Gene: EGF

Red List (low evidence)
EGF (epidermal growth factor)
EnsemblGeneIds (GRCh38): ENSG00000138798
EnsemblGeneIds (GRCh37): ENSG00000138798
OMIM: 131530, Gene2Phenotype
EGF is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Comment when marking as ready: LIMITED by ClinGen.
Created: 19 Oct 2023, 9:32 p.m. | Last Modified: 19 Oct 2023, 9:32 p.m.
Panel Version: 1.9
Single family reported.
Created: 30 Jan 2020, 3:48 a.m. | Last Modified: 30 Jan 2020, 3:48 a.m.
Panel Version: 0.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomagnesemia 4, renal, MIM#611718

Publications

Created: 30 Jan 2020, 3:48 a.m.
Last Modified: 30 Jan 2020, 3:48 a.m.
Panel version: Imported from Renal Abnormalities of Magnesium Metabolism panel version 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_Magnesium v38.1.0
  • KidGen_Magnesium v38.1.0
Phenotypes
  • Hypomagnesemia 4, renal, MIM#611718
OMIM
131530
Clinvar variants
Variants in EGF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Oct 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: egf has been classified as Red List (Low Evidence).

1 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EGF was added gene: EGF was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Red Mode of inheritance for gene: EGF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EGF were set to 17671655 Phenotypes for gene: EGF were set to Hypomagnesemia 4, renal, MIM#611718