Structural eye disease
Gene: ANK3
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
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: LiteratureCreated: 12 Sep 2023, 11:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ocular coloboma
Publications
Tag Q4_23_promote_green tag was added to gene: ANK3. Tag Q4_23_NHS_review tag was added to gene: ANK3.
Gene: ank3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ANK3 were changed from Ocular coloboma to Intellectual developmental disorder, autosomal recessive 37, OMIM:615493
Publications for gene: ANK3 were set to 35034853
Gene: ank3 has been classified as Amber List (Moderate Evidence).
gene: ANK3 was added gene: ANK3 was added to Structural eye disease. 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 Ocular coloboma Review for gene: ANK3 was set to AMBER