Anophthalmia_Microphthalmia_Coloboma
Gene: ANK3EnsemblGeneIds (GRCh38): ENSG00000151150
EnsemblGeneIds (GRCh37): ENSG00000151150
OMIM: 600465, Gene2Phenotype
ANK3 is in 3 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
2 unrelated families with missense - 1x de novo and 1x unknown inheritance
zebrafish KO model
Sources: LiteratureCreated: 5 May 2022, 1:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
coloboma MONDO#0001476, ANK3-related
Publications
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 Amber
- Literature
- Phenotypes
-
- coloboma MONDO#0001476, ANK3-related
- OMIM
- 600465
- Clinvar variants
- Variants in ANK3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: ank3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: ank3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: ANK3 was added gene: ANK3 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: ANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANK3 were set to 35034853 Phenotypes for gene: ANK3 were set to coloboma MONDO#0001476, ANK3-related Review for gene: ANK3 was set to AMBER gene: ANK3 was marked as current diagnostic