| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Childhood onset dystonia, chorea or related movement disorder v1.4 | NGLY1 | Eleanor Williams reviewed gene: NGLY1: Rating: ; Mode of pathogenicity: None; Publications: 32259258; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.238 | NGLY1 | Louise Daugherty Phenotypes for gene: NGLY1 were changed from Congenital disorder of deglycosylation to Congenital disorder of deglycosylation, 615273 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.83 | NGLY1 | Ellen McDonagh Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.82 | NGLY1 | Ellen McDonagh Mode of inheritance for gene: NGLY1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.0 | NGLY1 |
Ellen McDonagh gene: NGLY1 was added gene: NGLY1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NGLY1 was set to |
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