| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Repeat Disorders v1.15 | EP400_SCA_CAG | Zornitza Stark Tag preprint tag was added to STR: EP400_SCA_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v1.8 | EP400_SCA_CAG | Bryony Thompson Marked STR: EP400_SCA_CAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v1.8 | EP400_SCA_CAG | Bryony Thompson Str: ep400_sca_cag has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v1.8 | EP400_SCA_CAG | Bryony Thompson Classified STR: EP400_SCA_CAG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v1.8 | EP400_SCA_CAG | Bryony Thompson Str: ep400_sca_cag has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v1.7 | EP400_SCA_CAG |
Bryony Thompson STR: EP400_SCA_CAG was added STR: EP400_SCA_CAG was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: EP400_SCA_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: EP400_SCA_CAG were set to 10.1101/2025.01.06.631535 Phenotypes for STR: EP400_SCA_CAG were set to Spinocerebellar ataxia, EP400-related MONDO:0000437 Review for STR: EP400_SCA_CAG was set to AMBER Added comment: Preprint doi 10.1101/2025.01.06.631535 reports 2 unrelated families with an exonic CAG (polyglutamine) expansion in exon 47 of EP400 and spinocerebellar ataxia. A father and daughter had 56 and 58 pure CAG repeats. An affected child in the second family had 75. The longest pure CAG tract in 543 control genomes was 24. Normal 39 and pathogenic 71 are total allele length including CAA interruptions. The paper counts the longest pure CAG tract, 15 repeats lower. No pathogenic threshold is defined. 56 repeats was the lowest in an affected individual. Ages of onset were 15, ~35, 42 and 43 years. No functional analysis. Further probands/families are required to confirm the gene-disease association. Comment on list classification: Two families only and no functional evidence. Sources: Literature |
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