| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ataxia - adult onset v1.56 | DNMT1 |
Chirag Patel Source Royal Melbourne Hospital was removed from DNMT1. Source ClinGen was added to DNMT1. Source Literature was added to DNMT1. Phenotypes for gene: DNMT1 were changed from Cerebellar ataxia, deafness and narcolepsy, 604121; Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,; Hereditary sensory neuropathy type IE, 614116 to Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584 Publications for gene DNMT1 were changed from 22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457, 31984424 to 22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457, 31984424 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.0 | DNMT1 |
Bryony Thompson gene: DNMT1 was added gene: DNMT1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DNMT1 were set to Cerebellar ataxia, deafness and narcolepsy, 604121; Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,; Hereditary sensory neuropathy type IE, 614116 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||