Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
R-numbers: R60 Signed-off version 3.21 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes leg spasticity, Brain stem and spinal cord Hypomyelination, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 |
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 3.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 |
R-numbers: R61 Signed-off version 4.28 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes leg spasticity, Brain stem and spinal cord Hypomyelination, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. 615281 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity |
Component of the following Super Panels:
Signed-off version 3.24 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity |