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| Mendeliome v2.475 | HAPLN1 |
Sarah Milton gene: HAPLN1 was added gene: HAPLN1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: HAPLN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAPLN1 were set to 42381221 Phenotypes for gene: HAPLN1 were set to Skeletal dysplasia, MONDO:0018230, HAPLN1-related Review for gene: HAPLN1 was set to RED Added comment: HAPLN1 encodes hyaluronan and proteoglycan link protein 1 and is a extracellular matrix protein (ECM), required for maintaining tissue architecture and integrity. PMID 42381221 reports 4 individuals from 1 consanguineous family with a biallelic missense variant presenting with autosomal recessive skeletal dysplasia characterised by rhizomelic‑mesomelic limb shortening, platyspondyly, square iliac wings, short metacarpals. No supportive functional evidence in this paper. Previous studies cited in above paper have noted skeletal phenotypes in mouse and zebrafish knockout models. Remains a candidate gene. Sources: Literature |
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