Structural eye disease

Gene: ANK3

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 1:56 p.m. | Last Modified: 2 May 2024, 1:56 p.m.

Panel Version: 3.79

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 17 Oct 2023, 2:22 p.m. | Last Modified: 17 Oct 2023, 2:22 p.m.

Panel Version: 3.26

ANK3 variants have been associated with Intellectual developmental disorder, autosomal recessive 37 (OMIM:615493), however, this phenotype does not include Ocular coloboma to date. PMID: 35034853 reports two monoallelic ANK3 variants in two cases whose phenotype includes ocular coloboma. The authors also present supportive ank3 knockdown experiments in zebrafish, which revealed a coloboma and/or microphthalmia phenotype.

Created: 17 Oct 2023, 2:22 p.m. | Last Modified: 17 Oct 2023, 2:22 p.m.

Panel Version: 3.25

Comment on phenotypes: Ocular coloboma has yet to be associated with OMIM:615493.

Created: 17 Oct 2023, 2:13 p.m. | Last Modified: 17 Oct 2023, 2:13 p.m.

Panel Version: 3.25

I don't know

PMID: 35034853 identified two patients with ocular coloboma, each with a different heterozygous missense mutation in ANK3. In one of these families, the variant was confirmed as de novo. In the other, the unaffected mother was confirmed not to carry it.
Knockdown of ank3a and ank3b in zebrafish resulted in microphthalmia and penetrant coloboma phenotype
Sources: Literature

Created: 12 Sep 2023, 11:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ocular coloboma

Publications

• 35034853