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

Renal Tubulopathies and related disorders

Gene: EGFR

Red List (low evidence)
EGFR (epidermal growth factor receptor)
EnsemblGeneIds (GRCh38): ENSG00000146648
EnsemblGeneIds (GRCh37): ENSG00000146648
OMIM: 131550, Gene2Phenotype
EGFR is in 3 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Only 1 patient with inflammatory skin and bowel disease, loss of scalp hair, coarctation of aorta, and bilateral renal enlargement but no obstruction. No functional data, and no Magnesium irregularities.
Created: 30 Jan 2020, 4:20 a.m. | Last Modified: 30 Jan 2020, 4:20 a.m.
Panel Version: 0.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Inflammatory skin and bowel disease, neonatal, 2; OMIM # 616069

Publications

Created: 30 Jan 2020, 4:20 a.m.
Last Modified: 30 Jan 2020, 4:20 a.m.
Panel version: Imported from Renal Abnormalities of Magnesium Metabolism panel version 0.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_Magnesium v38.1.0
Phenotypes
  • Inflammatory skin and bowel disease, neonatal, 2
  • OMIM # 616069
OMIM
131550
Clinvar variants
Variants in EGFR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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: EGFR was added gene: EGFR was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Red Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EGFR were set to 24691054 Phenotypes for gene: EGFR were set to Inflammatory skin and bowel disease, neonatal, 2; OMIM # 616069