| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Deafness_Isolated v1.36 | TMEM43 | Zornitza Stark Marked gene: TMEM43 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.36 | TMEM43 | Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.36 | TMEM43 | Zornitza Stark Classified gene: TMEM43 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.36 | TMEM43 | Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.35 | TMEM43 |
Zornitza Stark gene: TMEM43 was added gene: TMEM43 was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM43 were set to 34050020 Phenotypes for gene: TMEM43 were set to Auditory neuropathy, autosomal dominant 3, MIM# 619832 Review for gene: TMEM43 was set to AMBER Added comment: 15 individuals reported from two families with missense variants and deafness. Sources: Literature |
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