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| Hereditary Neuropathy_CMT - isolated v1.69 | Bryony Thompson Copied STR PRDM12_HSAN8_GCC from panel Repeat Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.69 | PRDM12_HSAN8_GCC |
Bryony Thompson STR: PRDM12_HSAN8_GCC was added STR: PRDM12_HSAN8_GCC was added to Hereditary Neuropathy_CMT - isolated. 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 |
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| Hereditary Neuropathy_CMT - isolated v0.139 | PRDM12 | Zornitza Stark Marked gene: PRDM12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.139 | PRDM12 | Zornitza Stark Gene: prdm12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.139 | PRDM12 | Zornitza Stark Phenotypes for gene: PRDM12 were changed from hereditary sensory & autonomic neuropathy type VIII; HSAN/SFN to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662; HSAN/SFN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.138 | PRDM12 | Zornitza Stark Publications for gene: PRDM12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.137 | PRDM12 | Zornitza Stark edited their review of gene: PRDM12: Changed phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488, MONDO:0014662 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.137 | PRDM12 | Zornitza Stark reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.0 | PRDM12 |
Bryony Thompson gene: PRDM12 was added gene: PRDM12 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRDM12 were set to hereditary sensory & autonomic neuropathy type VIII; HSAN/SFN |
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