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Intellectual disability syndromic and non-syndromic

Gene: DNM1

Green List (high evidence)

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)

Green List (high 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.
Created: 7 Jul 2021, 10:23 a.m. | Last Modified: 7 Jul 2021, 10:23 a.m.
Panel Version: 0.3933

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346
  • Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352
OMIM
602377
Clinvar variants
Variants in DNM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Apr 2023, Gel status: 3

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

7 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnm1 has been classified as Green List (High Evidence).

7 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNM1 were set to

7 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DNM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNM1 was added gene: DNM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DNM1 was set to Unknown