Structural eye disease
Gene: ABCB6
Wang, four families, all missenseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia, isolated, with coloboma 7; 614497
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Promoted from red to green as there is sufficient evidence.Created: 24 Apr 2019, 2:35 p.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Wang, four families, all missenseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia, isolated, with coloboma 7 614497
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Gene: abcb6 has been classified as Green List (High Evidence).
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
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
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
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