Genomics England

DYNC1H1

dynein cytoplasmic 1 heavy chain 1

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 6.3	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 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD 158600, SEVERE ID WITH NEURONAL MIGRATION DISORDER 600112
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 5.10	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
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes SEVERE ID WITH NEURONAL MIGRATION DISORDER, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 4.11	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
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	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
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Mental retardation, autosomal dominant 13 614563
Green in Paediatric motor neuronopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Spinal muscular atrophy, lower extremity-predominant 1, AD, OMIM:158600