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  2. Hereditary Neuropathy_CMT - isolated
  3. DCTN1
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Hereditary Neuropathy_CMT - isolated

Gene: DCTN1

Green List (high evidence)
DCTN1 (dynactin subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000204843
EnsemblGeneIds (GRCh37): ENSG00000204843
OMIM: 601143, Gene2Phenotype
DCTN1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The p.G59S variant is recurrent, but others reported as well.

Variants in this gene also cause more complex neurological phenotypes. Sometimes multiple phenotypes present in a single family.
Created: 26 May 2021, 9:48 a.m. | Last Modified: 26 May 2021, 9:48 a.m.
Panel Version: 0.186

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641; MONDO:0011879

Publications

Created: 26 May 2021, 9:48 a.m.
Last Modified: 26 May 2021, 9:48 a.m.
Panel version: 0.186

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641
  • MONDO:0011879
OMIM
601143
Clinvar variants
Variants in DCTN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dctn1 has been classified as Green List (High Evidence).

26 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DCTN1 were changed from HMSN, dHMN/dSMA; Perry syndrome, 168605; {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641 to Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641; MONDO:0011879

26 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DCTN1 were set to

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DCTN1 was added gene: DCTN1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DCTN1 were set to HMSN, dHMN/dSMA; Perry syndrome, 168605; {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641