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| Repeat Disorders v0.123 | DBQD2 | Zornitza Stark Tag paediatric-onset tag was added to STR: DBQD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.99 | DBQD2 | Bryony Thompson Marked STR: DBQD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.99 | DBQD2 | Bryony Thompson Str: dbqd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.99 | DBQD2 | Bryony Thompson Classified STR: DBQD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.99 | DBQD2 | Bryony Thompson Str: dbqd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.98 | DBQD2 |
Bryony Thompson STR: DBQD2 was added STR: DBQD2 was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: DBQD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: DBQD2 were set to 30554721 Phenotypes for STR: DBQD2 were set to Desbuquois dysplasia 2 MIM#615777 Review for STR: DBQD2 was set to GREEN STR: DBQD2 was marked as clinically relevant Added comment: 10 patients from 8 families with homozygosity or compound heterozygosity for a (GGC)n repeat expansion in the XYLT1 promoter region, resulting in hypermethylation of XYLT1 exon 1. The GGC repeat region contains (GGC)n-AGC-(GGC)n-(GGA)n. Other loss of function variants in this gene also cause disease. Normal: 9-20 GGC repeats Pathogenic: 120-800 repeats Sources: Expert list |
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