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| Structural eye disease v0.76 | IQCB1 | Nicola Ragge reviewed gene: IQCB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Senior-Loken syndrome 5: an autosomal recessive disorder with the main features of nephronophthisis (NPHP, see 256100) and Leber congenital amaurosis (LCA, see 204000)., 609254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | IQCB1 | Ivone Leong reviewed gene: IQCB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Senior-Loken syndrome 5: an autosomal recessive disorder with the main features of nephronophthisis (NPHP, see 256100) and Leber congenital amaurosis (LCA, see 204000) 609254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | IQCB1 |
Ivone Leong Source NHS GMS was added to IQCB1. Mode of inheritance for gene IQCB1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Senior-Loken syndrome 5: an autosomal recessive disorder with the main features of nephronophthisis (NPHP, see 256100) and Leber congenital amaurosis (LCA, see 204000) 609254 for gene: IQCB1 |
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| Structural eye disease v0.2 | IQCB1 |
Ellen McDonagh gene: IQCB1 was added gene: IQCB1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: IQCB1 was set to Phenotypes for gene: IQCB1 were set to Eye Disorders |
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