Early onset or syndromic epilepsy

Gene: DNM1

I don't know

Comment on list classification: Currently, there is only enough evidence for an Amber rating for the biallelic form and so I have kept the MOI as just 'Monoallelic' at this time. Added watchlist tag in anticipation of further biallelic cases emerging.

Created: 7 Jul 2021, 9:38 a.m. | Last Modified: 12 Jul 2022, 10:50 a.m.

Panel Version: 2.543

Yigit et al. 2021 (PMID: 34172529) report 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, 9:37 a.m. | Last Modified: 7 Jul 2021, 9:37 a.m.

Panel Version: 2.385

Phenotypes
Developmental and epileptic encephalopathy 31, OMIM:616346

Publications

• 34172529

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Green List (high evidence)

Missense variants act in dominant negative manner, heterozygous LOF variants are unlikely to cause this phenotype but homozygous LOF mutations could in theory.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 31,616346

Publications

• 25262651
• 27066543

Green List (high evidence)

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

Publications

• EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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

Publications

• EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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

Publications

• EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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

Publications

• EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11

Variants in this GENE are reported as part of current diagnostic practice

Comment on mode of inheritance: Checked imprinted gene list.

Created: 17 Dec 2015, 3:24 p.m.

Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).

Created: 12 Nov 2015, 3:59 p.m.