| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Glaucoma (developmental) v1.30 | SH3PXD2B | Ivone Leong Classified gene: SH3PXD2B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.30 | SH3PXD2B | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is also Green on Structural eye disease (Version 1.63). Macrocornea could present with or without glaucoma. There is enough evidence to support a gene-disease association. This gene has been given a Green rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.30 | SH3PXD2B | Ivone Leong Gene: sh3pxd2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.29 | SH3PXD2B | Ivone Leong Publications for gene: SH3PXD2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.28 | SH3PXD2B | Ivone Leong Phenotypes for gene: SH3PXD2B were changed from Frank-ter Haar syndrome, MIM# 249420 to Frank-ter Haar syndrome, OMIM:249420 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.8 | SH3PXD2B | Zornitza Stark edited their review of gene: SH3PXD2B: Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.8 | SH3PXD2B |
Zornitza Stark gene: SH3PXD2B was added gene: SH3PXD2B was added to Glaucoma (developmental). Sources: Expert list Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SH3PXD2B were set to Frank-ter Haar syndrome, MIM# 249420 Review for gene: SH3PXD2B was set to GREEN Added comment: Glaucoma is part of the phenotype. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||