Early onset or syndromic epilepsy
Gene: DNM1
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
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
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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
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.
Publications for gene: DNM1 were set to 25262651; 27066543; 33372033; 34172529
Tag watchlist was removed from gene: DNM1. Tag watchlist_moi tag was added to gene: DNM1.
Publications for gene: DNM1 were set to EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11; 25262651; 27066543
Tag watchlist tag was added to gene: DNM1.
Gene: dnm1 has been classified as Green List (High Evidence).
Phenotypes for gene: DNM1 were changed from Epileptic encephalopathy, early infantile, 31, 616346 to Developmental and epileptic encephalopathy 31, OMIM:616346
Mode of inheritance for gene: DNM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM1 were set to EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11
Phenotypes for gene: DNM1 were changed from to Epileptic encephalopathy, early infantile, 31, 616346
Source Wessex and West Midlands GLH was added to DNM1.
Source NHS GMS was added to DNM1.
Ellen McDonagh: Gene added in expert review of
Victorian Clinical Genetics Services was added to DNM1. Panel: Genetic Epilepsy Syndromes
DNM1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review,Expert Review Green
DNM1 was created by Sarah Leigh