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| Repeat Disorders v0.146 | VACTERLX | Zornitza Stark Tag paediatric-onset tag was added to STR: VACTERLX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.142 | VACTERLX | Bryony Thompson Marked STR: VACTERLX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.142 | VACTERLX | Bryony Thompson Str: vacterlx has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.142 | VACTERLX |
Bryony Thompson STR: VACTERLX was added STR: VACTERLX was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: VACTERLX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: VACTERLX were set to 20452998; 32639022 Phenotypes for STR: VACTERLX were set to VACTERL association, X-linked MIM#314390 Review for STR: VACTERLX was set to RED Added comment: NM_003413.4(ZIC3):c.163GCC[X] PMID: 20452998 - reports a single case with VACTERL association and an expansion of the poly-Ala tract from 10 to 12 alanines. PMID: 32639022 - a family with Oculo-auriculo-vertebral spectrum (OAVS) segregates the 11 alanine expansion in affected males This polyalanine tract is highly polymorphic in gnomAD v2.1, there are 86 hemizygote 12 alanine expansions present and 65 hemizygotes with the 11 alanine expansion. The 13 polyalanine expansion is also present in 13 hemizygotes. Sources: Literature |
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