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DYNC1H1

dynein cytoplasmic 1 heavy chain 1
OMIM: 600112, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red DYNC1H1 in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.30 Latest signed off version: v9.22 (12 Aug 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Charcot Marie Tooth, SMA, Intellectual disability
Red DYNC1H1 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.345	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Charcot Marie Tooth, SMA, Intellectual disability
Green DYNC1H1 in Malformations of cortical development Level 2: Neurology Version 8.7 Latest signed off version: v8.6 (12 Aug 2026) Component of the following Super Panels: Cerebral malformation Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Expert Review Phenotypes Mental retardation, autosomal dominant 13 614563
Green DYNC1H1 in Arthrogryposis Level 2: Neurology Version 10.20 Latest signed off version: v10.16 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes arthrogryposis neuronal migration abnormalities Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600
Red DYNC1H1 in Neurodegenerative disorders, adult onset Level 2: Neurology Version 9.7 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Charcot Marie Tooth, SMA, Intellectual disability
Green DYNC1H1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes SEVERE ID WITH NEURONAL MIGRATION DISORDER SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD
Green DYNC1H1 in Paediatric motor neuronopathies Level 2: Neurology Version 3.17 Latest signed off version: v3.16 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy, lower extremity-predominant 1, AD, OMIM:158600
Green DYNC1H1 in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD 158600 SEVERE ID WITH NEURONAL MIGRATION DISORDER 600112
Green DYNC1H1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.513	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory UKGTN Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Charcot Marie Tooth disease, axonal, type 20, 614228 Mental retardation, autosomal dominant 13, 614563 Spinal muscular atrophy, lower extremity predominant, AD, 158600
Green DYNC1H1 in Early onset or syndromic epilepsy Level 2: Neurology Version 9.73 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 13, 614563 malformations of cortical development (MCD) Lennox Gastaut Early-onset epilepsy Late-onset epilepsy Focal seizures
Green DYNC1H1 in Intellectual disability Level 2: Developmental disorders Version 11.25 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services 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
Amber DYNC1H1 in Hereditary ataxia, adult onset Level 2: Neurology Version 9.10 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Autosomal dominant MR 13, 614563 Charcot Marie Tooth, SMA, Intellectual disability
Green DYNC1H1 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 8.31 Latest signed off version: v8.30 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH Illumina TruGenome Clinical Sequencing Services NHS GMS South West GLH NHS GMS London North GLH Phenotypes Mental retardation, autosomal dominant 13, 614563 Spinal muscular atrophy, lower extremity predominant, AD, 158600 Charcot Marie Tooth disease, axonal, type 20, 614228