Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome biogenesis disorder 12A (Zellweger), 614886 |
Green in ArthrogryposisR-numbers: R83 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) 614886 |
R-numbers: R31 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome biogenesis disorder |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ZELLWEGER SYNDROME 214100, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14 600279 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ZELLWEGER SYNDROME, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome biogenesis disorder 12A (Zellweger), 614886, ZELLWEGER SYNDROME (ZWS) |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 12A (Zellweger) |
Component of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 12A (Zellweger), 614886 |