Activity
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14 actions
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| Repeat Disorders v0.146 | CCD | Zornitza Stark Marked STR: CCD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.146 | CCD | Zornitza Stark Str: ccd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.146 | CCD | Zornitza Stark Tag paediatric-onset tag was added to STR: CCD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.47 | CCD | Bryony Thompson Classified STR: CCD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.47 | CCD | Bryony Thompson Str: ccd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.46 | CCD |
Bryony Thompson STR: CCD was added STR: CCD was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: CCD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: CCD were set to 9182765; 33811808; 20560987; 26220009; 25852448 Phenotypes for STR: CCD were set to Cleidocranial dysplasia MIM#119600 Review for STR: CCD was set to AMBER Added comment: NM_001024630.4(RUNX2):c.231_233[x] Expected mechanism of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein. Only identified 2 reported polyAla repeat expansions in the literature. One family reported with 27 Ala repeats and one case reported with 20 Ala repeats (with supporting in vitro functional assay evidence). Also at least one case reported with expansion of the upstream glutamine repeat. Sources: Expert list |
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| Repeat Disorders v0.45 | Bryony Thompson removed STR:BCCD from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.40 | BCCD | Bryony Thompson edited their review of STR: BCCD: Changed publications: 9182765, 33811808, 20560987, 26220009 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.40 | BCCD | Bryony Thompson edited their review of STR: BCCD: Changed publications: 9182765, 33811808, 20560987 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.20 | BCCD | Bryony Thompson Marked STR: BCCD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.20 | BCCD | Bryony Thompson Str: bccd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.20 | BCCD | Bryony Thompson Classified STR: BCCD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.20 | BCCD | Bryony Thompson Str: bccd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.19 | BCCD |
Bryony Thompson STR: BCCD was added STR: BCCD was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: BCCD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: BCCD were set to 9182765; 33811808 Phenotypes for STR: BCCD were set to Cleidocranial dysplasia MIM#119600 Review for STR: BCCD was set to GREEN STR: BCCD was marked as clinically relevant Added comment: NM_001024630.4(RUNX2):c.231_233[x] Expected mechansim of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein Normal repeat number: 17 Pathogenic repeat number: 27 Sources: Expert list |
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