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Intellectual disability

Gene: DNM1

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

4 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: 'Dominant-negative' heterozygous variants in DNM1 are a known cause of a dominant developmental and epileptic encephalopathy. There are now more than 3 unrelated individuals reported in literature with biallelic LoF DNM1 variants and a recessive Developmental and epileptic encephalopathy. Hence, the mode of inheritance should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Created: 28 Jul 2026, 2:28 p.m. | Last Modified: 28 Jul 2026, 2:28 p.m.
Panel Version: 10.71
BIALLELIC CASES:
PMID: 41340537 Drackley et al., 2026
24mo female proband with early infantile developmental and epileptic encephalopathy, including a burst suppression pattern with diffuse slowing on interictal EEG, probable tonic seizures, and profound developmental delay, as well as cerebral atrophy, hypotonia, and arthrogryposis. No head circumference measures given. NGS detected comp het DNM1 variants c.194C>A, p.Thr65Asn (de novo) and c.850C>T p.Gln284* (maternally inherited, mother unaffected).

PMID: 37900685 Afsar et al., 2023
Report of a consanguineous Pakistani family. Male proband presented with a neurodevelopmental disorder, mild microcephaly (head circumference: 48.9 cm <1 percentile (−2.8 SD)), moderate to severe ID, speech issues, seizures, epileptic encephalopathy, and hypotonia. WES revealed a novel homozygous non-sense variant (c.1402G>T; p. Glu468*) in exon 11 of the DNM1 gene.

PMID: 36553519 AlTassan et al., 2022
Female proband presented with facial dysmorphism, global developmental delay, seizure disorder, and nystagmus. Head circumference 46 cm (25th percentile) at 18 months. Parents are consanguineous, Arab ancestry. Clinical WES revealed a homozygous deletion in DNM1 (NM_001288739.1: c.350del, p.Pro117Argfs*14).

PMID: 34172529 Yigit et al., 2022
Report of 2 families, probands affected by DEE. WES detected homozygous nonsense variants, c.97C>T; p.(Gln33*) in family 1 and c.850C>T; p.(Gln284*) in family 2, in the DNM1 gene.
F1 - Lebanese, consanguineous. Female proband presented with multifocal clonic seizures at 15 weeks. At 5yrs, her body weight was 14.35 kg (−2.1 SD); length was 99 cm (−2.4 SD); and OFC was 45.8 cm (−4.4 SD). Lack of verbal understanding and no speech development were noted.
F2 - Arab origins, consanguineous. Female proband presented with infantile spasms (onset around 6mo), severe GDD. At 2 years, she presented with microcephaly, visual disturbance and generalised muscular hypotonia. Mild bilateral optic atrophy observed at 3yrs. At 3yrs 8 mo her weight was 10 kg (−3.7 SD); length was 88 cm (−3.1 SD); and OFC was 45 cm (−4.5 SD).

MONOALLELIC CASES:
PMID: 36413998 Parthasarathy et al., 2022
Eight individuals harbor a recurrent de novo splice site variant, c.1197-8G>A, 3 individuals harboured p.Arg399Trp, p.Gly401Asp, and p.Pro405Leu missense variants. Importantly, exon 10 is alternatively spliced, with predominantly exon 10a isoform expressed in the brain. Thus, variants in exon 10a result in a more severe phenotype than in exon 10b. Variant p.Pro405Leu, which was the only variant affecting exon 10b isoform, resulted in a less severe neurological presentation (mild DD versus profound DD in all other patients in the cohort).

DNM1 is associated with both AD and AR Developmental and epileptic encephalopathy entities in OMIM (accessed 28th July 2026). The recessive association is classified as Moderate, while dominant disease link is Definitive in ClinGen (Epilepsy GCEP, Feb 2024).
Created: 28 Jul 2026, 2:24 p.m. | Last Modified: 28 Jul 2026, 2:31 p.m.
Panel Version: 10.71

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 31B, autosomal recessive, OMIM:620352; developmental and epileptic encephalopathy, 31B, MONDO:0957248; Developmental and epileptic encephalopathy 31A, autosomal dominant, OMIM:616346; developmental and epileptic encephalopathy, 31A, MONDO:0014598; DNM1 early infantile epileptic encephalopathy

Publications

Created: 28 Jul 2026, 2:24 p.m.
Last Modified: 28 Jul 2026, 2:31 p.m.
Panel version: 10.71

Caroline Wright (Sanger)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
EPILEPTIC ENCEPHALOPATHY

Publications

  • 0

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Lu Raymond (university of cambridge )

I don't know

Created: 23 Feb 2016, 10:16 a.m.

Panel version: 0.306

Richard Scott (Genomics England Curator)

Comment on list classification: Confirmed DD gene; also in epileptic encephalopathy panel
Created: 7 Feb 2016, 7:13 a.m.
Created: 7 Feb 2016, 7:13 a.m.

Panel version: 0.101

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 31B, autosomal recessive, OMIM:620352
  • developmental and epileptic encephalopathy, 31B, MONDO:0957248
  • Developmental and epileptic encephalopathy 31A, autosomal dominant, OMIM:616346
  • developmental and epileptic encephalopathy, 31A, MONDO:0014598
  • DNM1 early infantile epileptic encephalopathy
Tags
Q3_26_MOI
OMIM
602377
Clinvar variants
Variants in DNM1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Jul 2026, Gel status: 3

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: DNM1 were changed from Developmental and epileptic encephalopathy 31, OMIM:616346 to Developmental and epileptic encephalopathy 31B, autosomal recessive, OMIM:620352; developmental and epileptic encephalopathy, 31B, MONDO:0957248; Developmental and epileptic encephalopathy 31A, autosomal dominant, OMIM:616346; developmental and epileptic encephalopathy, 31A, MONDO:0014598; DNM1 early infantile epileptic encephalopathy

28 Jul 2026, Gel status: 3

Set publications

Ida Ertmanska (Genomics England Curator)

Publications for gene: DNM1 were set to 0

28 Jul 2026, Gel status: 3

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q3_26_MOI tag was added to gene: DNM1.

7 Jul 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to DNM1.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

7 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DNM1 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DNM1 was added to Intellectual disabilitypanel. Sources: Expert Review Amber