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| Optic Atrophy v0.83 | PBX1 | Zornitza Stark Marked gene: PBX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.83 | PBX1 | Zornitza Stark Added comment: Comment when marking as ready: Agree, cannot find evidence of association with OA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.83 | PBX1 | Zornitza Stark Gene: pbx1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.81 | PBX1 | Zornitza Stark Phenotypes for gene: PBX1 were changed from to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.78 | PBX1 | Zornitza Stark Publications for gene: PBX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.77 | PBX1 | Zornitza Stark Mode of inheritance for gene: PBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.76 | PBX1 | Zornitza Stark Classified gene: PBX1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.76 | PBX1 | Zornitza Stark Gene: pbx1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.60 | PBX1 |
Elena Savva changed review comment from: PMID: 29036646 - 8 patients reported with both missense and PTCs. No indication in any patient of an eye-related phenotype; to: PMID: 29036646 - 8 patients reported with both missense and PTCs. No indication in any patient of an eye-related phenotype Looked for other papers/databases, no indication of this gene causing an eye phenotype. Some papers discuss developmental biology (PMID: 19797217) in mice, but no patients as of yet reported. |
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| Optic Atrophy v0.60 | PBX1 | Elena Savva reviewed gene: PBX1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29036646; Phenotypes: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.0 | PBX1 |
Zornitza Stark gene: PBX1 was added gene: PBX1 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PBX1 was set to Unknown |
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