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| Repeat Disorders v0.123 | BPES | Zornitza Stark Tag paediatric-onset tag was added to STR: BPES. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.34 | BPES | Bryony Thompson Marked STR: BPES as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.34 | BPES | Bryony Thompson Str: bpes has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.34 | BPES | Bryony Thompson Classified STR: BPES as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.34 | BPES | Bryony Thompson Str: bpes has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.33 | BPES |
Bryony Thompson STR: BPES was added STR: BPES was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: BPES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for STR: BPES were set to 11468277; 33811808 Phenotypes for STR: BPES were set to Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2 MIM#110100; Premature ovarian failure 3 MIM#608996 Review for STR: BPES was set to GREEN STR: BPES was marked as clinically relevant Added comment: NM_023067.2:c.661_702[X] Mechanism of disease is polyAlanine tract leading to a loss of function of the protein Normal repeat number: 14 Pathogenic repeat number: 19-24 Sources: Expert list |
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