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| Mendeliome v1.3862 | EXD3 | Zornitza Stark Marked gene: EXD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3862 | EXD3 | Zornitza Stark Gene: exd3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3862 | EXD3 |
Zornitza Stark gene: EXD3 was added gene: EXD3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: EXD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EXD3 were set to 37396523 Phenotypes for gene: EXD3 were set to Cataract, MONDO:0005129, EXD3-related Review for gene: EXD3 was set to RED Added comment: PMID 37396523 reports 34 individuals from 3 unrelated families where a heterozygous missense variant c.112C>T (p.Arg38Trp) segregated in an autosomal dominant manner, presenting with bilateral posterior polar congenital cataract. No functional data. Variant is present in gnomAD in 13 individuals. Haplotype analysis suggested it had arisen independently. Sources: Literature |
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