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Inborn errors of metabolism

Gene: EGF

Red List (low evidence)

EGF (epidermal growth factor)
EnsemblGeneIds (GRCh38): ENSG00000138798
EnsemblGeneIds (GRCh37): ENSG00000138798
OMIM: 131530, Gene2Phenotype
EGF is in 3 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

1 variant reported in 2 members of same family, unaffected members htz
Created: 23 Feb 2017, 5:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism)
OMIM
131530
Clinvar variants
Variants in EGF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to EGF. Source London North GLH was added to EGF.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: EGF was added gene: EGF was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: EGF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EGF were set to 27604308 Phenotypes for gene: EGF were set to Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism)