Structural eye disease
Gene: ABCB6EnsemblGeneIds (GRCh38): ENSG00000115657
EnsemblGeneIds (GRCh37): ENSG00000115657
OMIM: 605452, Gene2Phenotype
ABCB6 is in 6 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
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
Ivone Leong (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Microphthalmia, isolated, with coloboma 7, 614497
- [Blood group, Langereis system], 111600
- Dyschromatosis universalis hereditaria 3, 615402
- OMIM
- 605452
- Clinvar variants
- Variants in ABCB6
- Penetrance
- None
- 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
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: abcb6 has been classified as Green List (High Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Added New Source, Set mode of inheritance, Set mode of pathogenicity, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)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
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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