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| Structural eye disease v0.76 | KCTD7 | Nicola Ragge reviewed gene: KCTD7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, 611726; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | MYOC | Nicola Ragge reviewed gene: MYOC: Rating: GREEN; Mode of pathogenicity: ; Publications: 9535666, 12522550, 9345106, 9328473, 9005853, 9697688, 10330365; Phenotypes: Glaucoma 1A, primary open angle, 137750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | KCTD7 | Ivone Leong reviewed gene: KCTD7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, 611726; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | MYOC | Ivone Leong reviewed gene: MYOC: Rating: GREEN; Mode of pathogenicity: ; Publications: 9535666, 12522550, 9345106, 9328473, 9005853, 9697688, 10330365; Phenotypes: Glaucoma 1A, primary open angle, 137750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | KCTD7 |
Ivone Leong Source NHS GMS was added to KCTD7. Mode of inheritance for gene KCTD7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, 611726 for gene: KCTD7 |
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| Structural eye disease v0.15 | MYOC |
Ivone Leong Source NHS GMS was added to MYOC. Added phenotypes Glaucoma 1A, primary open angle, 137750 for gene: MYOC Publications for gene MYOC were changed from 9535666; 12522550; 9345106; 9328473; 9005853; 9697688; 10330365 to 9697688; 9005853; 9328473; 12522550; 10330365; 9535666; 9345106 |
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| Structural eye disease v0.2 | MYOC |
Ellen McDonagh gene: MYOC was added gene: MYOC was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: MYOC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYOC were set to 9535666; 12522550; 9345106; 9328473; 9005853; 9697688; 10330365 Phenotypes for gene: MYOC were set to Glaucoma 1A, primary open angle, 137750 |
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