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| Structural eye disease v0.91 | C5orf42 | Nicola Ragge edited their review of gene: C5orf42: Added comment: Lopez: one case with microphthalmia among 11 families, compound het for missense and frameshift, parents not available; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | C5orf42 | Nicola Ragge reviewed gene: C5orf42: Rating: RED; Mode of pathogenicity: ; Publications: 24178751; Phenotypes: Joubert syndrome 17, 614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.75 | C5orf42 | Louise Daugherty Tag new-gene-name tag was added to gene: C5orf42. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.75 | C5orf42 | Louise Daugherty commented on gene: C5orf42 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.60 | C5orf42 | Mariya Moosajee reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Oriofaciodigital Syndrome VI, OFD6 ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.59 | C5orf42 |
Ivone Leong Source London North GLH was added to C5orf42. Added phenotypes Oriofaciodigital Syndrome VI, OFD6, 277170 for gene: C5orf42 |
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| Structural eye disease v0.38 | C5orf42 | Ivone Leong reviewed gene: C5orf42: Rating: RED; Mode of pathogenicity: ; Publications: 24178751; Phenotypes: Joubert syndrome 17, 614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | C5orf42 |
Ivone Leong Source NHS GMS was added to C5orf42. Added phenotypes Joubert syndrome 17, 614615 for gene: C5orf42 Publications for gene C5orf42 were changed from 22425360; 22693042; 25920555 to 24178751 |
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| Structural eye disease v0.2 | C5orf42 |
Ellen McDonagh gene: C5orf42 was added gene: C5orf42 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C5orf42 were set to 22425360; 22693042; 25920555 Phenotypes for gene: C5orf42 were set to Oral-facial-digital syndrome type VI; Joubert syndrome |
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