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| Deafness_IsolatedAndComplex v1.289 | COL4A4 | Chirag Patel Phenotypes for gene: COL4A4 were changed from Alport syndrome 2, autosomal recessive MIM#203780; Hematuria, familial benign MIM#141200 to Alport syndrome 2, autosomal recessive, MIM# 203780; Alport syndrome 3, autosomal dominant, MIM# 104200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.288 | COL4A4 | Chirag Patel Marked gene: COL4A4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.288 | COL4A4 | Chirag Patel Gene: col4a4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.288 | COL4A4 |
Chirag Patel edited their review of gene: COL4A4: Added comment: ARAS - 50%-60% typically exhibit hearing loss ADAS - hearing loss is usually a very late development; Changed rating: GREEN; Changed phenotypes: Alport syndrome 2, autosomal recessive, MIM# 203780, Alport syndrome 3, autosomal dominant, MIM# 104200; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
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| Deafness_IsolatedAndComplex v1.288 | COL4A4 | Chirag Patel Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.288 | COL4A4 | Chirag Patel commented on gene: COL4A4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.288 | Chirag Patel Copied gene COL4A4 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.288 | COL4A4 |
Chirag Patel gene: COL4A4 was added gene: COL4A4 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL4A4 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: COL4A4 were set to 20301386 Phenotypes for gene: COL4A4 were set to Alport syndrome 2, autosomal recessive MIM#203780; Hematuria, familial benign MIM#141200 |
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