| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.0 | PLN | Gene migrated from ENSG00000198523 to ENSG00000198523 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13263 | PLN | Zornitza Stark Marked gene: PLN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13263 | PLN | Zornitza Stark Gene: pln has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13263 | PLN | Zornitza Stark Phenotypes for gene: PLN were changed from to Cardiomyopathy, dilated, 1P, MIM# 609909; Cardiomyopathy, hypertrophic, 18 (MIM #613874) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13262 | PLN | Zornitza Stark Publications for gene: PLN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13261 | PLN | Zornitza Stark Mode of inheritance for gene: PLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13260 | PLN | Zornitza Stark reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203; Phenotypes: Cardiomyopathy, dilated, 1P, MIM# 609909, Cardiomyopathy, hypertrophic, 18 (MIM #613874); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | PLN |
Zornitza Stark gene: PLN was added gene: PLN was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PLN was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||