Repeat Disorders
STR: HMNMYO
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: LiteratureCreated: 17 Aug 2021, 12:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary motor, with myopathic features MIM#619216
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Tag paediatric-onset tag was added to STR: HMNMYO.
Str: hmnmyo has been classified as Green List (High Evidence).
Str: hmnmyo has been classified as Green List (High Evidence).
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