| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.626 | ZEB2 | Zornitza Stark Marked gene: ZEB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.626 | ZEB2 | Zornitza Stark Gene: zeb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.626 | ZEB2 | Zornitza Stark Classified gene: ZEB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.626 | ZEB2 | Zornitza Stark Gene: zeb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.625 | ZEB2 |
Zornitza Stark gene: ZEB2 was added gene: ZEB2 was added to Cataract. Sources: Literature Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZEB2 were set to 36676725; 25899569 Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome, MIM# 235730 Review for gene: ZEB2 was set to AMBER Added comment: PMID 25899569 reports four unrelated families with heterozygous loss‑of‑function ZEB2 variants causing Mowat‑Wilson syndrome; one of these families had cataract. PMID 36676725 reports one unrelated family with a de novo nonsense ZEB2 variant presenting with bilateral developmental cataract as part of Mowat‑Wilson syndrome. Sources: Literature |
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