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| Repeat Disorders v0.163 | HFGS_tract2 | Bryony Thompson Marked STR: HFGS_tract2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.163 | HFGS_tract2 | Bryony Thompson Str: hfgs_tract2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.123 | HFGS_tract2 | Zornitza Stark Tag paediatric-onset tag was added to STR: HFGS_tract2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.28 | HFGS_tract2 | Bryony Thompson Classified STR: HFGS_tract2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.28 | HFGS_tract2 | Bryony Thompson Str: hfgs_tract2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.27 | HFGS_tract2 |
Bryony Thompson STR: HFGS_tract2 was added STR: HFGS_tract2 was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: HFGS_tract2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: HFGS_tract2 were set to 10839976; 12073020; 33811808 Phenotypes for STR: HFGS_tract2 were set to Hand-foot-uterus syndrome MIM#140000 Review for STR: HFGS_tract2 was set to GREEN STR: HFGS_tract2 was marked as clinically relevant Added comment: NM_000522.5(HOXA13):c.217_219[X] Expected mechanism of disease is a polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein PolyAla tract 2 of the 3 N-terminal polyAla tracts Normal repeat number: 12 Pathogenic repeat number: 18 Sources: Expert list |
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