| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Bilateral congenital or childhood onset cataracts v1.32 | AP4B1 | Ivone Leong edited their review of gene: AP4B1: Added comment: AP4B1 is associated with an unrelated phenotype on OMIM and Gene2Phenotype. There is only 1 case (PMID: 29430868) so currently there is not enough evidence to promote this gene to green status.; Changed rating: RED; Changed publications: 29430868 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.31 | AP4B1 | Ivone Leong reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.30 | AP4B1 |
Ivone Leong gene: AP4B1 was added gene: AP4B1 was added to Cataracts. Sources: Expert list,Expert Review Red Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to 29430868 Phenotypes for gene: AP4B1 were set to AP-4 deficiency syndrome and ocular anomalies |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||