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Fetal anomalies
Gene: DNM1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Well-established link between heterozygous variants in DNM1 and developmental and epileptic encephalopathy. Yigit et al. 2021 (PMID: 34172529) recently reported two unrelated patients with DEE and homozygous truncating variants (c.97C>T; p.(Gln33*) and c.850C>T; p.(Gln284*), respectively) in the DNM1 gene. All parents were heterozygous carriers but did not show any clinical symptoms indicating a recessive inheritance pattern. No function studies were performed.

Clinical presentation is typically post-natal.
Created: 7 Jul 2021, 10:23 a.m. | Last Modified: 15 Jan 2022, 10:01 a.m.

Panel Version: 0.2300

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346; Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352

Publications

Created: 7 Jul 2021, 10:23 a.m.
Last Modified: 15 Jan 2022, 10:01 a.m.
Panel version: 1.103

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346
Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352

OMIM

Clinvar variants

Variants in DNM1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

27 Apr 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNM1 were changed from Developmental and epileptic encephalopathy 31, OMIM:616346 to Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346; Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352

15 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnm1 has been classified as Red List (Low Evidence).

15 Jan 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNM1 were changed from EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 31, OMIM:616346

15 Jan 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNM1 were set to

15 Jan 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DNM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

15 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnm1 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNM1 was added gene: DNM1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp 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