Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 616577 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.9 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.51 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 |