| Panel | Mode of inheritance | Details |
|---|---|---|
9 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Hereditary Leiomyomatosis and Renal Cell Cancer |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FUMARASE DEFICIENCY 606812 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 2.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FUMARASE DEFICIENCY |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fumarase deficiency, 606812, Fumarase deficiency (Disorders of the citric acid cycle) |
R-numbers: R223 Signed-off version 2.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes PCC/PGL, HLRCC |
Green in Inherited renal cancerR-numbers: R224 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Uterine leiomyosarcoma (less common), Cutaneous leiomyosarcoma (less common), Renal cell carcinoma, solitary papillary type 2 (about 20% of patients) |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fumarase deficiency, 606812Leiomyomatosis and renal cell cancer, 150800, FUMARASE DEFICIENCY |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fumarase deficiency, 606812 |
R-numbers: R63 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fumarase deficiency 606812 |