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| Structural eye disease v0.76 | BBS12 | Nicola Ragge reviewed gene: BBS12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome12, 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | BBS10 | Nicola Ragge reviewed gene: BBS10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome10, 615987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | BBS1 | Nicola Ragge reviewed gene: BBS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome1, 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | BBS12 | Ivone Leong reviewed gene: BBS12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome12, 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | BBS10 | Ivone Leong reviewed gene: BBS10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome10, 615987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | BBS1 | Ivone Leong reviewed gene: BBS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome1, 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | BBS12 |
Ivone Leong Source NHS GMS was added to BBS12. Mode of inheritance for gene BBS12 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome12, 615989 for gene: BBS12 |
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| Structural eye disease v0.15 | BBS10 |
Ivone Leong Source NHS GMS was added to BBS10. Mode of inheritance for gene BBS10 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome10, 615987 for gene: BBS10 |
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| Structural eye disease v0.15 | BBS1 |
Ivone Leong Source NHS GMS was added to BBS1. Mode of inheritance for gene BBS1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome1, 209900 for gene: BBS1 |
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| Structural eye disease v0.2 | BBS12 |
Ellen McDonagh gene: BBS12 was added gene: BBS12 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: BBS12 was set to Phenotypes for gene: BBS12 were set to Eye Disorders |
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| Structural eye disease v0.2 | BBS10 |
Ellen McDonagh gene: BBS10 was added gene: BBS10 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: BBS10 was set to Phenotypes for gene: BBS10 were set to Eye Disorders |
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| Structural eye disease v0.2 | BBS1 |
Ellen McDonagh gene: BBS1 was added gene: BBS1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: BBS1 was set to Phenotypes for gene: BBS1 were set to Eye Disorders |
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