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| Repeat Disorders v0.123 | HMNMYO | Zornitza Stark Tag paediatric-onset tag was added to STR: HMNMYO. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.63 | HMNMYO | Bryony Thompson Marked STR: HMNMYO as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.63 | HMNMYO | Bryony Thompson Str: hmnmyo has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.63 | HMNMYO | Bryony Thompson Classified STR: HMNMYO as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.63 | HMNMYO | Bryony Thompson Str: hmnmyo has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.62 | HMNMYO |
Bryony Thompson STR: HMNMYO was added STR: HMNMYO was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: HMNMYO was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: HMNMYO were set to 33559681; 33459760 Phenotypes for STR: HMNMYO were set to Neuropathy, hereditary motor, with myopathic features MIM#619216 Review for STR: HMNMYO was set to GREEN STR: HMNMYO was marked as clinically relevant Added comment: NM_022834.5(VWA1):c.62_71GCGCGGAGCG[X] 10-bp repeat expansion leading to a loss of function allele, was observed in 14/15 families and was homozygous in 10/15 with a recessive hereditary motor neuropathy. Normal: 2 repeats Pathogenic: >=3 repeats (currently only 3 repeats reported) Sources: Literature |
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