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| Hereditary Neuropathy_CMT - isolated v1.48 | RTN2 | Zornitza Stark Phenotypes for gene: RTN2 were changed from distal hereditary motor neuropathy, MONDO:0018894, RTN2-related to Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.47 | RTN2 | Zornitza Stark edited their review of gene: RTN2: Changed phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.43 | RTN2 | Zornitza Stark Marked gene: RTN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.43 | RTN2 | Zornitza Stark Gene: rtn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.43 | RTN2 | Zornitza Stark Classified gene: RTN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.43 | RTN2 | Zornitza Stark Gene: rtn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.42 | RTN2 |
Zornitza Stark gene: RTN2 was added gene: RTN2 was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature Mode of inheritance for gene: RTN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RTN2 were set to 38527963 Phenotypes for gene: RTN2 were set to distal hereditary motor neuropathy, MONDO:0018894, RTN2-related Review for gene: RTN2 was set to GREEN Added comment: PMID:38527963 reported the identification of seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven unrelated families with distal hereditary motor neuropathy. All affected individuals exhibited weakness in the distal upper and lower limbs, lower limb spasticity, hyperreflexia, with an onset in the first decade of life. Nerve conduction studies revealed axonal motor neuropathy with neurogenic changes in the electromyography. Characterisation of C. elegans RTN2 homolog loss-of-function variants demonstrated morphological and behavioural differences compared to the parental strain, and treatment with an endoplasmic/sarcoplasmic reticulum Ca(2+) re-uptake inhibitor (2,5-di-tert-butylhydroquinone) rescued key phenotypic differences. Sources: Literature |
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