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| Repeat Disorders v0.123 | EIEE1_tract1 | Zornitza Stark Tag paediatric-onset tag was added to STR: EIEE1_tract1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.38 | EIEE1_tract1 | Bryony Thompson Marked STR: EIEE1_tract1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.38 | EIEE1_tract1 | Bryony Thompson Str: eiee1_tract1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.38 | EIEE1_tract1 | Bryony Thompson Classified STR: EIEE1_tract1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.38 | EIEE1_tract1 | Bryony Thompson Str: eiee1_tract1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.37 | EIEE1_tract1 |
Bryony Thompson STR: EIEE1_tract1 was added STR: EIEE1_tract1 was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: EIEE1_tract1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: EIEE1_tract1 were set to 11889467; 33811808 Phenotypes for STR: EIEE1_tract1 were set to Developmental and epileptic encephalopathy 1 MIM#308350; Intellectual disability, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510 Review for STR: EIEE1_tract1 was set to GREEN STR: EIEE1_tract1 was marked as clinically relevant Added comment: NM_139058.3(ARX):c.306GGC[X] Mechanism of disease is polyAlanine tract associated with dominant-negative effect PolyAla tract 1 of 2 polyAla tracts associated with disease Normal repeat number: 16 Pathogenic repeat number: 23 Sources: Expert list |
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