| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Congenital Disorders of Glycosylation v0.227 | VMA21 | Zornitza Stark Marked gene: VMA21 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.227 | VMA21 | Zornitza Stark Gene: vma21 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.227 | VMA21 | Zornitza Stark Classified gene: VMA21 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.227 | VMA21 | Zornitza Stark Gene: vma21 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.226 | VMA21 |
Zornitza Stark gene: VMA21 was added gene: VMA21 was added to Congenital Disorders of Glycosylation. Sources: Expert list Mode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: VMA21 were set to 27916343; 25809233; 23315026 Phenotypes for gene: VMA21 were set to Myopathy, X-linked, with excessive autophagy (MIM#310440) Review for gene: VMA21 was set to GREEN Added comment: More than 15 families reported. Note many of the variants are intronic. Gene product participates in the assembly of the V-ATPase. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||