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| Repeat Disorders v0.145 | HSAN8 | Zornitza Stark Tag paediatric-onset tag was added to STR: HSAN8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.130 | HSAN8 | Bryony Thompson Marked STR: HSAN8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.130 | HSAN8 | Bryony Thompson Str: hsan8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.130 | HSAN8 | Bryony Thompson Classified STR: HSAN8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.130 | HSAN8 | Bryony Thompson Str: hsan8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.129 | HSAN8 |
Bryony Thompson STR: HSAN8 was added STR: HSAN8 was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: HSAN8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: HSAN8 were set to 26005867 Phenotypes for STR: HSAN8 were set to Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488 Review for STR: HSAN8 was set to GREEN STR: HSAN8 was marked as clinically relevant Added comment: NM_021619.3(PRDM12):c.1041CGC[X] Poly-Ala repeat, with 7-14 repeats identified in controls. A large consanguineous Pakastani family with HSAN segregating a homozygous expansion from 12 to 19 residues, and an Irish family with HSAN segregating a expansion from 12 to 18 residues. In vitro functional expression studies in COS-7 cells showed that the polyalanine expansions resulted in reduced protein expression and caused discrete, concentrated foci to form in the nucleus and cytoplasm. SNVs also cause disease. Sources: Literature |
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