Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 3.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181 |
R-numbers: R57 Signed-off version 3.56 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181 |
R-numbers: R61 Signed-off version 4.28 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Aicardi-Goutieres syndrome 2, OMIM:61018 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes AICARDI-GOUTIERES SYNDROME 2 610181 |
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 Aicardi-Goutieres syndrome 2, OMIM:610181 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181 |
R-numbers: R15 Signed-off version 4.123 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181 |
Component of the following Super Panels:
Signed-off version 3.24 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181 |