Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in Congenital hyperinsulinismR-numbers: R144 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Congenital hyperinsulinism |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes HK1-related developmental disorder (monoallelic) |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Hemolytic anemia due to hexokinase deficiency, OMIM:235700, Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547 |
R-numbers: R78 Signed-off version 5.16 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neuropathy, hereditary motor and sensory, Russe type, OMIM:605285 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547 |
Green in Rare anaemiaR-numbers: R92 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hemolytic anemia due to hexokinase deficiency, OMIM:235700, Enzyme disorder |
Green in Retinal disordersR-numbers: R32 Signed-off version 6.16 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Retinitis pigmentosa 79, OMIM:617460, Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547 |