DYNC1H1

dynein cytoplasmic 1 heavy chain 1
OMIM: 600112, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red DYNC1H1 in Ataxia and cerebellar anomalies - narrow panel Version 5.3 Latest signed off version: v5.0 (1 May 2024) 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 1.332	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 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.4 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Cerebral malformation	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
Red DYNC1H1 in Autism Version 0.36	review	Not set	Sources Expert Review Red SFARI
Green DYNC1H1 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 6.3 Latest signed off version: v6.0 (1 May 2024)	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 Adult onset neurodegenerative disorder Version 5.3 Latest signed off version: v5.0 (1 May 2024)	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 Version 4.1 Latest signed off version: v4.0 (1 May 2024)	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 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 3.7 Latest signed off version: v3.6 (1 May 2024) 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 4.3 Latest signed off version: v4.0 (1 May 2024) 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 1.478	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 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 5.10 Latest signed off version: v5.0 (1 May 2024) 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 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant 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 with onset in adulthood Version 5.3 Latest signed off version: v5.0 (1 May 2024)	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 Version 4.11 Latest signed off version: v4.0 (1 May 2024)	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
Green DYNC1H1 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 Mental retardation, autosomal dominant 13, 614563 Charcot-Marie-Tooth disease, axonal, type 20, 614228