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| Structural eye disease v0.76 | ABCB6 | Nicola Ragge reviewed gene: ABCB6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22226084; Phenotypes: Microphthalmia, isolated, with coloboma 7, 614497; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.71 | ABCB6 | Ivone Leong commented on gene: ABCB6: Promoted from red to green as there is sufficient evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.71 | ABCB6 | Ivone Leong Classified gene: ABCB6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.71 | ABCB6 | Ivone Leong Gene: abcb6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | ABCB6 | Ivone Leong reviewed gene: ABCB6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22226084; Phenotypes: Microphthalmia, isolated, with coloboma 7 614497; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.23 | ABCB6 | Ivone Leong Phenotypes for gene: ABCB6 were changed from Microphthalmia, isolated, with coloboma 7, 614497; [Blood group, Langereis system], 111600; Microphthalmia, isolated, with coloboma 7 614497; Dyschromatosis universalis hereditaria 3, 615402 to Microphthalmia, isolated, with coloboma 7, 614497; [Blood group, Langereis system], 111600; Dyschromatosis universalis hereditaria 3, 615402 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | ABCB6 |
Ivone Leong Source NHS GMS was added to ABCB6. Mode of inheritance for gene ABCB6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene ABCB6 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments Added phenotypes Microphthalmia, isolated, with coloboma 7 614497 for gene: ABCB6 Publications for gene ABCB6 were changed from to 22226084 |
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| Structural eye disease v0.11 | ABCB6 | Ivone Leong Phenotypes for gene: ABCB6 were changed from Microphthalmia, isolated, with coloboma 7, 614497[Blood group, Langereis system], 111600Dyschromatosis universalis hereditaria 3, 615402 to Microphthalmia, isolated, with coloboma 7, 614497; [Blood group, Langereis system], 111600; Dyschromatosis universalis hereditaria 3, 615402 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | ABCB6 |
Ellen McDonagh gene: ABCB6 was added gene: ABCB6 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ABCB6 was set to Phenotypes for gene: ABCB6 were set to Microphthalmia, isolated, with coloboma 7, 614497[Blood group, Langereis system], 111600Dyschromatosis universalis hereditaria 3, 615402 |
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