| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Deafness_IsolatedAndComplex v1.231 | DIAPH1 | Chirag Patel Publications for gene DIAPH1 were changed from 27707755; 27808407; 28003573; 28815995; 26912466 to 27707755; 27808407; 28003573; 28815995; 26912466 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.230 | DIAPH1 | Chirag Patel commented on gene: DIAPH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.230 | DIAPH1 | Chirag Patel Publications for gene DIAPH1 were changed from 27707755; 27808407; 28003573; 28815995 to 27707755; 27808407; 28003573; 28815995 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.229 | DIAPH1 |
Chirag Patel Source Melbourne Genomics Health Alliance Deafness Flagship was removed from DIAPH1. Source Victorian Clinical Genetics Services was removed from DIAPH1. Source Literature was added to DIAPH1. Phenotypes for gene: DIAPH1 were changed from Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900 to DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome, MONDO:0044635 |
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| Deafness_IsolatedAndComplex v0.456 | DIAPH1 | Zornitza Stark Marked gene: DIAPH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.456 | DIAPH1 | Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.456 | DIAPH1 | Zornitza Stark Phenotypes for gene: DIAPH1 were changed from to Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.455 | DIAPH1 | Zornitza Stark Publications for gene: DIAPH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.454 | DIAPH1 | Zornitza Stark Mode of pathogenicity for gene: DIAPH1 was changed from to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.453 | DIAPH1 | Zornitza Stark Mode of inheritance for gene: DIAPH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.383 | DIAPH1 | Dean Phelan reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 24781755, 27707755, 27808407, 28003573, 28815995; Phenotypes: Deafness, autosomal dominant 1, with or without thrombocytopenia 124900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.0 | DIAPH1 |
Zornitza Stark gene: DIAPH1 was added gene: DIAPH1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: DIAPH1 was set to Unknown |
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