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| Structural eye disease v0.76 | SH3PXD2B | Nicola Ragge reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 20137777, 29100834 ; Phenotypes: Frank-ter Haar syndrome, 249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | SH3PXD2B | Ivone Leong edited their review of gene: SH3PXD2B: Changed phenotypes: Frank-ter Haar syndrome, 249420 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | SH3PXD2B | Ivone Leong reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137777, 29100834 ; Phenotypes: Marinesco-Sjogren syndrome, 248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | SH3PXD2B |
Ivone Leong gene: SH3PXD2B was added gene: SH3PXD2B was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SH3PXD2B were set to 29100834; 20137777 Phenotypes for gene: SH3PXD2B were set to Frank-ter Haar syndrome, 249420 |
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