DCTN1

dynactin subunit 1
OMIM: 601143, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green DCTN1 in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.128	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Phenotypes Perry syndrome
Red DCTN1 in Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.84	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Other Phenotypes Perry syndrome
Red DCTN1 in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list Phenotypes Neuropathy, distal hereditary motor, type VIIB
Green DCTN1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Neuropathy, distal hereditary motor, type VIIB, OMIM:607641 Perry syndrome, OMIM:168605 {Amyotrophic lateral sclerosis, susceptibility to}, OMIM:105400
Green DCTN1 in Amyotrophic lateral sclerosis/motor neuron disease Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.74	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Neuropathy, distal hereditary motor, type VIIB, 607641 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 Perry syndrome, 168605
Red DCTN1 in Paediatric motor neuronopathies Level 2: Neurology Version 3.12 Latest signed off version: v3.9 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	Not set	Sources Expert Review Red Expert
Green DCTN1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green South West GLH NHS GMS London North GLH Emory Genetics Laboratory UKGTN Expert list Phenotypes {Amyotrophic lateral sclerosis, susceptibility to}, 105400 Neuropathy, distal hereditary motor, type VIIB 607641 Perry syndrome, 168605
Red DCTN1 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Other - please specify in evaluation comments	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neuropathy, distal hereditary motor, type VIIB, 607641 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 Perry syndrome, 168605
Green DCTN1 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London North GLH Expert Review Green Phenotypes Perry syndrome, OMIM:168605 Neuronopathy, distal hereditary motor, type VIIB, OMIM:607641
Green DCTN1 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green South West GLH UKGTN Emory Genetics Laboratory Expert list London North GLH NHS GMS South West GLH NHS GMS London North GLH Phenotypes Perry syndrome, 168605 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 Neuropathy, distal hereditary motor, type VIIB 607641
Red DCTN1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PanelApp South West GLH Phenotypes Neuropathy, distal hereditary motor, type VIIB