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| Skeletal dysplasia v0.445 | APC | Zornitza Stark Marked gene: APC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.445 | APC | Zornitza Stark Gene: apc has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.445 | APC |
Zornitza Stark gene: APC was added gene: APC was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: APC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APC were set to 30237576; 28383543; 25676610 Phenotypes for gene: APC were set to Syndromic disease, MONDO:0002254, APC-related Review for gene: APC was set to RED Added comment: PMID 25676610 reports 4 individuals from a Saudi consanguineous family with a homozygous APC splice‑site deletion and Cenani‑Lenz syndrome; PMID 28383543 reports another Saudi with homozygous APC splice‑site deletion and CLS; PMID 30237576 reports another Saudi individual with splice-site variant and CLS. All present with congenital limb malformations, syndactyly and scoliosis. Likely founder variant. Possible multiple reports of same family. All part of large cohorts with minimal additional information or functional validation, hence RED rating. Sources: Literature |
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