Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
R-numbers: R61 Signed-off version 6.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spasticity, childhood-onset, with hyperglycinemia, OMIM:616859 |
R-numbers: R96 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Anemia, sideroblastic, 3, pyridoxine-refractory OMIM:616860 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.14 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950, Disorders of iron homeostasis |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Disorders of iron homeostasis, Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860 |
R-numbers: R316 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860 |
Green in Rare anaemiaR-numbers: R92 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950, 616860 Pyridoxine refractory sideroblastic anaemia 3 |
Component of the following Super Panels:
Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spasticity, childhood-onset, with hyperglycinemia, OMIM:616859 |