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| Structural eye disease v0.76 | FNBP4 | Nicola Ragge reviewed gene: FNBP4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microphthalmia with Limb anomalies (Classified as variant of unknown significance on OMIM), 206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | FNBP4 | Ivone Leong edited their review of gene: FNBP4: Changed phenotypes: Microphthalmia with Limb anomalies (Classified as variant of unknown significance on OMIM), 206920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | FNBP4 | Ivone Leong reviewed gene: FNBP4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Blepharophimosis, epicanthus inversus, and ptosis, 110100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | FNBP4 |
Ivone Leong gene: FNBP4 was added gene: FNBP4 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: FNBP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FNBP4 were set to Microphthalmia with Limb anomalies (Classified as variant of unknown significance on OMIM), 206920 |
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