| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.3954 | Bryony Thompson Copied STR PRDM12_HSAN8_GCC from panel Repeat Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3954 | PRDM12_HSAN8_GCC |
Bryony Thompson STR: PRDM12_HSAN8_GCC was added STR: PRDM12_HSAN8_GCC was added to Mendeliome. Sources: Expert Review Green,Literature paediatric-onset tags were added to STR: PRDM12_HSAN8_GCC. Mode of inheritance for STR: PRDM12_HSAN8_GCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: PRDM12_HSAN8_GCC were set to 26005867 Phenotypes for STR: PRDM12_HSAN8_GCC were set to Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||