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DDG2P

Gene: DYNC1H1

Green List (high evidence)
DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000197102
EnsemblGeneIds (GRCh37): ENSG00000197102
OMIM: 600112, Gene2Phenotype
DYNC1H1 is in 13 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for DYNC1H1-related spinal muscular atrophy, lower extremity-predominant are definitive, monoallelic_autosomal and undetermined (PMIDs: 22459677, 22847149, 24307404, 25484024, 25609763, 26846447, 27066557, 28193117, 28554554, 29306600, 30122514, 30246859, 32947049, 34368388, 35606327, 35899263, 36720598, 36882741, 37395972). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00192. The DDG2P confidence category, allelic requirement and molecular mechanism for DYNC1H1-related severe intellectual disability with neuronal migration disorder are definitive, monoallelic_autosomal and undetermined (PMIDs: 22368300, 24307404, 25609763, 27331017, 27754416, 28193117, 28395088, 34092403, 34786417, 34803881, 35099838, 36175372, 36636459, 37181555, 37903666). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01629.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease SEVERE ID WITH NEURONAL MIGRATION DISORDER, OMIM:600112 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 24307404;27331017;28193117;22368300;25609763). The DDG2P confidence category for the disease SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD, OMIM:158600 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 28554554;24307404;22459677;25484024;29306600;27066557;30122514;28193117;25609763).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
SEVERE ID WITH NEURONAL MIGRATION DISORDER, OMIM:600112; OMIM:158600.0; OMIM:614563.0; DYNC1H1-related spinal muscular atrophy, lower extremity-predominant; MONDO:0013805; DYNC1H1-related severe intellectual disability with neuronal migration disorder; SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD, OMIM:158600

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). DDG2P mode of pathogenicity for both disorders: all missense/in frame.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance
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
OMIM
600112
Clinvar variants
Variants in DYNC1H1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: DYNC1H1 was changed from Other to None

4 Oct 2023, Gel status: 3

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene DYNC1H1 was changed from Other - please provide details in the comments to Other Publications for gene: DYNC1H1 were updated from 22459677 to 22368300; 27066557; 28554554; 27331017; 30122514; 25484024; 25609763; 24307404; 29306600; 28193117; 22459677

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes SEVERE ID WITH NEURONAL MIGRATION DISORDER 600112 for gene: DYNC1H1

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: DYNC1H1 was added gene: DYNC1H1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DYNC1H1 were set to 22459677 Phenotypes for gene: DYNC1H1 were set to SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD 158600 Mode of pathogenicity for gene: DYNC1H1 was set to Other - please provide details in the comments