| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Repeat Disorders v0.146 | SPD1 | Zornitza Stark Tag paediatric-onset tag was added to STR: SPD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.93 | SPD1 | Bryony Thompson Marked STR: SPD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.93 | SPD1 | Bryony Thompson Str: spd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.93 | SPD1 | Bryony Thompson Classified STR: SPD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.93 | SPD1 | Bryony Thompson Str: spd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.92 | SPD1 |
Bryony Thompson STR: SPD1 was added STR: SPD1 was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: SPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: SPD1 were set to 8817328; 33811808; 33533119 Phenotypes for STR: SPD1 were set to Synpolydactyly 1 MIM#186000 Review for STR: SPD1 was set to GREEN STR: SPD1 was marked as clinically relevant Added comment: NM_000523.4(HOXD13):c.212_213GCG[X] Mechanism of disease is polyAlanine tract associated with dominant-negative effect Normal repeat number: 15 Pathogenic repeat number: 24 Truncation of repeat also reported Sources: Expert list |
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| Repeat Disorders v0.91 | Bryony Thompson removed STR:SPD1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.40 | SPD1 |
Bryony Thompson changed review comment from: NM_000523.4(HOXD13):c.212_213GCG[X] Mechanism of disease is polyAlanine tract associated with dominant-negative effect Normal repeat number: 15 Pathogenic repeat number: 24 Sources: Expert list; to: NM_000523.4(HOXD13):c.212_213GCG[X] Mechanism of disease is polyAlanine tract associated with dominant-negative effect Normal repeat number: 15 Pathogenic repeat number: 24 Truncation of repeat also reported Sources: Expert list |
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| Repeat Disorders v0.40 | SPD1 | Bryony Thompson edited their review of STR: SPD1: Changed publications: 8817328, 33811808, 33533119 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.16 | SPD1 | Bryony Thompson Marked STR: SPD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.16 | SPD1 | Bryony Thompson Str: spd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.16 | SPD1 | Bryony Thompson Classified STR: SPD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.16 | SPD1 | Bryony Thompson Str: spd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.15 | SPD1 |
Bryony Thompson STR: SPD1 was added STR: SPD1 was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: SPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: SPD1 were set to 8817328; 33811808 Phenotypes for STR: SPD1 were set to Synpolydactyly 1 MIM#186000 Review for STR: SPD1 was set to GREEN STR: SPD1 was marked as clinically relevant Added comment: NM_000523.4(HOXD13):c.212_213GCG[X] Mechanism of disease is polyAlanine tract associated with dominant-negative effect Normal repeat number: 15 Pathogenic repeat number: 24 Sources: Expert list |
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