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| Renal Tubulopathies and related disorders v2.5 | EGFR | chirag patel Marked gene: EGFR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulopathies and related disorders v2.5 | EGFR | chirag patel Gene: egfr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulopathies and related disorders v2.5 | EGFR | chirag patel Publications for gene: EGFR were set to 24691054 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulopathies and related disorders v2.4 | EGFR | chirag patel Phenotypes for gene: EGFR were changed from Inflammatory skin and bowel disease, neonatal, 2; OMIM # 616069 to Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulopathies and related disorders v2.3 | EGFR | chirag patel Classified gene: EGFR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulopathies and related disorders v2.3 | EGFR | chirag patel Gene: egfr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulopathies and related disorders v2.2 | EGFR |
chirag patel edited their review of gene: EGFR: Added comment: Total 27 individuals from 24 families reported with this condition. 23 families (20 Roma descent, 3 unknown ethnicity) had the same homozygous missense variant in EGFR (c.1283 G>A; p.Gly428Asp) strongly supporting a founder effect. 1 Japanese family had compound heterozygous variants (p.R98X and p.I365N). Segregation testing was only performed in a few families. Condition characterised by intrauterine growth retardation, premature birth, skin issues (thin, translucent, fragile, desquamation, ichthyosis, infective/inflammatory lesions), nephromegaly, renal tubular dysfunction with electrolyte imbalances, chronic diarrhoea, necrotising enterocolitis, recurrent infections with sepsis, cardiac anomalies, and dysmorphism. Most die within 2.5 years. PMID 24691054: Skin biopsy demonstrated an altered cellular distribution of EGFR in the epidermis with reduced cell membrane labeling, and in vitro analysis of the mutant receptor revealed abrogated EGFR phosphorylation and EGF-stimulated downstream signaling. PMID 26436111: EGF failed to induce mutated receptor phosphorylation in patient-derived fibroblasts and activation of downstream targets was suppressed. The heterologously expressed extracellular domain was impaired in stability and the binding of EGF. EGFR knockout mice show some clinical and pathological similarities with patients though features are not present at birth but develop afterwards in the skin, lungs, and digestive organs (PMID 9176390, 7618085, 7630400).; Changed rating: GREEN; Changed publications: 24691054,36017778,26436111,32250467,32602142,40040597,29899996,9176390,7618085,7630400; Changed phenotypes: Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481 |
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| Renal Tubulopathies and related disorders v2.2 | chirag patel Added reviews for gene EGFR from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulopathies and related disorders v2.1 | chirag patel Added reviews for gene EGFR from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulopathies and related disorders v2.0 | EGFR | Gene migrated from ENSG00000146648 to ENSG00000146648 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulopathies and related disorders v0.4 | EGFR |
Zornitza Stark 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 |
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