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| Skeletal dysplasia v1.111 | PEX6 | chirag patel Marked gene: PEX6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.111 | PEX6 | chirag patel Gene: pex6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.111 | PEX6 |
chirag patel changed review comment from: Variants in this gene account for 14.5% of Zellweger Spectrum Disorder patients according to GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1448/) Genetic spectrum of 77 patients reviewed in PMID: 19877282.; to: Variants in this gene account for 14.5% of Zellweger Spectrum Disorder patients according to GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1448/) Genetic spectrum of 77 patients reviewed in PMID: 19877282. Newborns may have bony stippling (chondrodysplasia punctata) of the patella(e) and other long bones. |
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| Skeletal dysplasia v1.111 | chirag patel Copied gene PEX6 from panel Peroxisomal Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.111 | PEX6 |
chirag patel gene: PEX6 was added gene: PEX6 was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX6 were set to 20301621, 19877282 Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862 |
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