Panel | Mode of inheritance | Details |
---|---|---|
11 panels | ||
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome biogenesis disorder 8A (Zellweger), 614876, Peroxisome biogenesis disorder 8B, 614877 |
Green in ArthrogryposisR-numbers: R83 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome biogenesis disorder 8A (Zellweger) 614876 |
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Zellweger syndrome (614876), Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis |
R-numbers: R31 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome biogenesis disorder 8A, (Zellweger), Peroxisome biogenesis disorder |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ZELLWEGER SYNDROME 214100, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 603360 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9, ZELLWEGER SYNDROME |
R-numbers: R54 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Zellweger syndrome (614876), Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis, Peroxisome biogenesis disorder 8B, 614877, Peroxisome biogenesis disorder 8A, 614876 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome biogenesis disorder 8A, (Zellweger), 614876Peroxisome biogenesis disorder 8B, 614877, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 (PBD-CG9) |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Disorders of peroxisome biogenesis, Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, Peroxisome biogenesis disorder 8A, (Zellweger), 614876, Peroxisomal biogenesis disorders, Zellweger Syndrome |
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 8A, (Zellweger), 614876, Zellweger Syndrome, Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, Peroxisomal biogenesis disorders |
Component of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome, Peroxisome biogenesis disorder 8A, (Zellweger), Peroxisome biogenesis disorder 8B, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 |