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| Structural eye disease v3.31 | CDH4 |
Sarah Leigh changed review comment from: CDH4 variants have not been associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 35034853 identified a monoallelic CDH4 variant in a case with unilateral right iris coloboma and intellectual disability, postnatal and microcephaly. In situ hybridization showed that cdh4 was expressed in the ciliary marginal zone and periocular mesenchyme cells in zebrafish embryos at 48 & 56 hpf (PMID: 35034853, Fig S1) and cdh4 morphants displayed microphthalmia (FigS3), together with pleiotropic developmental defects. PMID: 15918170 had previously reported evidence of brain disorganization in a cdh4 knockdown zebrafish.; to: CDH4 variants have not been associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 35034853 identified a monoallelic CDH4 variant in a case with unilateral right iris coloboma and intellectual disability, postnatal and microcephaly. In situ hybridization showed that cdh4 was expressed in the ciliary marginal zone and periocular mesenchyme cells in zebrafish embryos at 48 & 56 hpf (PMID: 35034853, Fig S1) and knockdown of cdh4 morphants displayed microphthalmia (FigS3), together with pleiotropic developmental defects. PMID: 15918170 had previously reported evidence of brain disorganization in a cdh4 knockdown zebrafish. |
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| Structural eye disease v3.30 | CDH4 | Sarah Leigh Publications for gene: CDH4 were set to 35034853 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.29 | CDH4 | Sarah Leigh reviewed gene: CDH4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.29 | CDH4 | Sarah Leigh Classified gene: CDH4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.29 | CDH4 | Sarah Leigh Gene: cdh4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.4 | CDH4 |
Hannah Knight gene: CDH4 was added gene: CDH4 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: CDH4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDH4 were set to 35034853 Phenotypes for gene: CDH4 were set to Iris coloboma, intellectual disability, and microcephaly Review for gene: CDH4 was set to AMBER Added comment: PMID: 35034853 - patient with an iris coloboma, intellectual disability, and microcephaly. Heterozygous variant in CDH4 found - NM_001794.5:c.1291C>T, p.(Arg431Cys). Not found in unaffected mother Knockdown of cdh4 in zebrafish led to ocular maldevelopment (as has been previously reported) Sources: Literature |
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