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| Hereditary Neuropathy v1.55 | DARS2 | Zornitza Stark Phenotypes for gene: DARS2 were changed from Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings to Charcot-Marie-Tooth disease, axonal, type 2LL, MIM# 621485 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.54 | DARS2 | Zornitza Stark Publications for gene: DARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.53 | DARS2 | Zornitza Stark reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40814755; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2LL, MIM# 621485; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.265 | DARS2 | Bryony Thompson Marked gene: DARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.265 | DARS2 | Bryony Thompson Gene: dars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.166 | DARS2 | Sangavi Sivagnanasundram reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 20506600, 19592391, 33574740; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) (MIM#611105); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.0 | DARS2 |
Bryony Thompson gene: DARS2 was added gene: DARS2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DARS2 were set to Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings |
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