DYNC1H1

dynein cytoplasmic 1 heavy chain 1
OMIM: 600112
PanelMode of inheritanceDetails
8 panels
R-numbers: R83
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
arthrogryposis, neuronal migration abnormalities, Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD 158600, SEVERE ID WITH NEURONAL MIGRATION DISORDER 600112
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SEVERE ID WITH NEURONAL MIGRATION DISORDER, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 13, 614563, malformations of cortical development (MCD), Lennox Gastaut, Early-onset epilepsy, Late-onset epilepsy, Focal seizures
R-numbers: R78
Signed-off version 1.36
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 13, 614563, Spinal muscular atrophy, lower extremity predominant, AD, 158600, Charcot Marie Tooth disease, axonal, type 20, 614228
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental Retardation, Dominant, Charcot-Marie-Tooth disease, axonal, type 20, 614228, Mental retardation, autosomal dominant 13, 614563, Spinal muscular atrophy, lower extremity-predominant, AD, 158600, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, autosomal dominant 13 614563
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.30
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinal muscular atrophy, lower extremity-predominant, AD, 158600