Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Epidermal growth factor receptor

The gene encodes the receptor of the epidermal growth factor. Mutations can be found in nonsmall cell lung cancer and appear to influence responsiveness to tyrosine kinase inhibitors. A role in regulation of the magnesium channel TRPM6 has also been demonstrated, so it influences magnesium homeostasis.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hypomagnesemia
EGFR
Gitelman syndrome
SLC12A3
Hereditary myokymia type 1
KCNA1
Hypomagnesemia with hypercalciuria and nephrocalcinosis
CLDN16
Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
CLDN19
Hypomagnesemia with normocalciuria
EGF
Intestinal hypomagnesemia with secondary hypocalcemia
TRPM6
Isolated dominant hypomagnesemia
FXYD2
Renal cysts and diabetes (RCAD)
HNF1B
Renal hypomagnesemia 6
CNNM2
TRPM7

References:

1.

Groenestege WM et al. (2007) Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia.

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2.

Tejpar S et al. (2007) Magnesium wasting associated with epidermal-growth-factor receptor-targeting antibodies in colorectal cancer: a prospective study.

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3.

Orphanet article

Orphanet ID 121311 [^]
4.

NCBI article

NCBI 1956 [^]
5.

OMIM.ORG article

Omim 131550 [^]
6.

Wikipedia article

Wikipedia EN (Epidermal_growth_factor_receptor) [^]
Update: April 29, 2019