Panel | Mode of inheritance | Details |
---|---|---|
12 panels | ||
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 |
Green in Amelogenesis imperfectaR-numbers: R340 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Heimler Syndrome 1, 234580 (includes amelogenesis imperfecta), hypomineralized amelogenesis imperfecta, amelogenesis imperfecta, Peroxisomal Biogenesis Disorder 1A (NALD / IRD) 601539, Peroxisome biogenesis disorder 1A (Zellweger), 214100 |
Green in ArthrogryposisR-numbers: R83 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome biogenesis disorder 1A (Zellweger) 214100 |
R-numbers: R31 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome biogenesis disorder 1A (Zellweger), Refsum disease infantile, Adrenoleukodystrophy neonatal, Peroxisome biogenesis disorder |
Green in CholestasisR-numbers: R171 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome Biogenesis Disorder 1A (Zellweger), 214100, Zellweger syndrome, Neonatal and Adult Cholestasis |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 602136, ADRENOLEUKODYSTROPHY NEONATAL 202370, INFANTILE REFSUM DISEASE 266510 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ADRENOLEUKODYSTROPHY NEONATAL, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1, INFANTILE REFSUM DISEASE |
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 1A (Zellweger), 214100Peroxisome biogenesis disorder 1B (NALD/IRD), 601539, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 (PBD-CG1) |
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 disorder 1B (NALD/IRD) 601539, Peroxisome biogenesis disorder 1A (Zellweger) 214100 |
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 1A (Zellweger), 214100, Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 |
Green in Retinal disordersR-numbers: R32 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Genetic Retinal Degeneration Conditions |
Component of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome, Peroxisome biogenesis disorder 1A,B, General Leukodystrophy & Mitochondrial Leukoencephalopathy, Peroxisome biogenesis disorder 1A (Zellweger) |