Anophthalmia_Microphthalmia_Coloboma
Gene: ABCB6
ABCB6 (ATP binding cassette subfamily B member 6 (Langereis blood group))
EnsemblGeneIds (GRCh38): ENSG00000115657
EnsemblGeneIds (GRCh37): ENSG00000115657
OMIM: 605452, Gene2Phenotype
ABCB6 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000115657
EnsemblGeneIds (GRCh37): ENSG00000115657
OMIM: 605452, Gene2Phenotype
ABCB6 is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Segregation of a missense variant reported in a single Chinese family. Morpholino knockdown of abcb6 in zebrafish produces a phenotype characteristic of coloboma. The missenses p.Ala57Thr and p.Arg192Gln reported in cases with coloboma are too common in gnomAD for a dominant condition. No convincing evidence reported since the 2012 publication.
Sources: LiteratureCreated: 21 May 2020, 2:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia, isolated, with coloboma 7 MIM#614497
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Microphthalmia, isolated, with coloboma 7 MIM#614497
- OMIM
- 605452
- Clinvar variants
- Variants in ABCB6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
28 Dec 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: abcb6 has been classified as Red List (Low Evidence).
21 May 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ABCB6 was added gene: ABCB6 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ABCB6 were set to 22226084; 24281366 Phenotypes for gene: ABCB6 were set to Microphthalmia, isolated, with coloboma 7 MIM#614497 Review for gene: ABCB6 was set to RED