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| Hereditary Neuropathy_CMT - isolated v0.48 | IGHMBP2 | Zornitza Stark Marked gene: IGHMBP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.48 | IGHMBP2 | Zornitza Stark Gene: ighmbp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.48 | IGHMBP2 | Zornitza Stark Publications for gene: IGHMBP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.47 | IGHMBP2 | Crystle Lee changed review comment from: >5 families reported with CMT2.; to: >5 families reported with CMT2. Complete loss of protein function appears to result in the move severe condition (spinal muscular atrophy with respiratory distress type 1 (SMARD1) [MIM#604320]) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.47 | IGHMBP2 | Crystle Lee reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439726; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2S (MIM#616155); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.0 | IGHMBP2 |
Bryony Thompson gene: IGHMBP2 was added gene: IGHMBP2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGHMBP2 were set to HMSN, dHMN/dSMA; Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320 |
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