Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Component of the following Super Panels:
Signed-off version 4.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006, developmental and epileptic encephalopathy, 15, MONDO:0014003, Intellectual developmental disorder, autosomal recessive 12, OMIM:611090, intellectual disability, autosomal recessive 12, MONDO:0012612 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006, developmental and epileptic encephalopathy, 15, MONDO:0014003, Intellectual developmental disorder, autosomal recessive 12, OMIM:611090, intellectual disability, autosomal recessive 12, MONDO:0012612 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 4.134 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006, developmental and epileptic encephalopathy, 15, MONDO:0014003 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006, developmental and epileptic encephalopathy, 15, MONDO:0014003, Intellectual developmental disorder, autosomal recessive 12, OMIM:611090, intellectual disability, autosomal recessive 12, MONDO:0012612 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006, developmental and epileptic encephalopathy, 15, MONDO:0014003, Intellectual developmental disorder, autosomal recessive 12, OMIM:611090, intellectual disability, autosomal recessive 12, MONDO:0012612 |