| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Albinism or congenital nystagmus v0.17 | MANBA | Jonathan Callaway reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mannosidosis, beta 248510 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.16 | MANBA |
Ivone Leong Source Expert Review Amber was added to MANBA. Added phenotypes Mannosidosis, beta 248510 AR for gene: MANBA Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.15 | MANBA |
Ivone Leong gene: MANBA was added gene: MANBA was added to Albinism or congenital nystagmus. Sources: NHS GMS Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MANBA were set to Mannosidosis, beta 248510 AR |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||