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| Structural eye disease v3.79 | ANK3 |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: ANK3. Tag Q4_23_NHS_review was removed from gene: ANK3. |
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| Structural eye disease v3.79 | ANK3 | Arina Puzriakova reviewed gene: ANK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.78 | ANK3 |
Arina Puzriakova Source NHS GMS was added to ANK3. Source Expert Review Green was added to ANK3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v3.26 | ANK3 |
Sarah Leigh Tag Q4_23_promote_green tag was added to gene: ANK3. Tag Q4_23_NHS_review tag was added to gene: ANK3. |
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| Structural eye disease v3.26 | ANK3 | Sarah Leigh Classified gene: ANK3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.26 | ANK3 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.26 | ANK3 | Sarah Leigh Gene: ank3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.25 | ANK3 | Sarah Leigh edited their review of gene: ANK3: Added comment: 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.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.25 | ANK3 | Sarah Leigh Added comment: Comment on phenotypes: Ocular coloboma has yet to be associated with OMIM:615493. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.25 | ANK3 | Sarah Leigh Phenotypes for gene: ANK3 were changed from Ocular coloboma to Intellectual developmental disorder, autosomal recessive 37, OMIM:615493 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.24 | ANK3 | Sarah Leigh Publications for gene: ANK3 were set to 35034853 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.23 | ANK3 | Sarah Leigh Classified gene: ANK3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.23 | ANK3 | Sarah Leigh Gene: ank3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.4 | ANK3 |
Hannah Knight 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 Added comment: 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 |
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