Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
R-numbers: R31 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fish-eye disease 136120, Norum disease 245900 |
Green in Corneal dystrophyR-numbers: R262 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fish-eye disease 136120, Norum disease 245900 |
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 Norum disease/LCAT deficiency, 245900, Fish-eye disease, 136120, Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism) |
Green in Proteinuric renal diseaseR-numbers: R195 Signed-off version 4.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Norum disease, OMIM:245900, Norum disease, MONDO:0009515, LCAT DEFICIENCY |
R-numbers: R257 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Norum disease, OMIM:245900, Norum disease, MONDO:0009515, LCAT DEFICIENCY |