1. Panels
  2. DDG2P
  3. DNM1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: DNM1

Green List (high evidence)
DNM1 (dynamin 1)
EnsemblGeneIds (GRCh38): ENSG00000106976
EnsemblGeneIds (GRCh37): ENSG00000106976
OMIM: 602377, Gene2Phenotype
DNM1 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for DNM1-related microcephaly, developmental and epileptic encephalopathy (monoallelic) are strong, monoallelic_autosomal and dominant negative (PMIDs: 25262651, 26611353, 28667181, 29397573, 29427836, 30455886, 32909139, 34172529, 34386584, 36413998, 37039969, 37132416, 37248033, 38009673). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00371. The DDG2P confidence category, allelic requirement and molecular mechanism for DNM1-related microcephaly, developmental and epileptic encephalopathy (biallelic) are moderate, biallelic_autosomal and loss of function (PMIDs: 34172529, 36413998, 36553519, 37900685). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03414.
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 DNM1-associated microcephaly, developmental and epileptic encephalopathy is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 34172529;25262651;36413998). The DDG2P confidence category for the disease DNM1-associated microcephaly, developmental and epileptic encephalopathy is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 34172529;36413998).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
OMIM:620352.0; DNM1-related microcephaly, developmental and epileptic encephalopathy (biallelic); MONDO:0957248; DNM1-related microcephaly, developmental and epileptic encephalopathy (monoallelic); DNM1-associated microcephaly, developmental and epileptic encephalopathy

Publications

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: probable. DDG2P mode of pathogenicity: 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
OMIM
602377
Clinvar variants
Variants in DNM1
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: DNM1 was changed from Other - please provide details in the comments to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to DNM1. Mode of inheritance for gene DNM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DNM1 were updated from to 36413998; 34172529; 25262651 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: DNM1 was added gene: DNM1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DNM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DNM1 were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: DNM1 was set to Other - please provide details in the comments