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Genetic epilepsy syndromes

Gene: DYNC1H1

Green List (high evidence)

DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000197102
EnsemblGeneIds (GRCh37): ENSG00000197102
OMIM: 600112, Gene2Phenotype
DYNC1H1 is in 15 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD MR 13 - variable neuronal migration defects - variable features include seizures and mild dysmorphic features. Willemsen et al, 2012 - 51 year old women, developed generalised seizures aged 3 - de novo het missense variant. Poirer et al, 2013 - 8 unrelated patients with MR - all but 1 had seizures - most early onset - 8 diff de novo het mutatons. In vitro functional expression studues of 2 of these done.
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
Charcot-Marie-Tooth disease,axonal type, 614228; Mental retardation autosomal dominant 614563; Spinal muscular atrophy lower extremity-predominant 1, AD 158600

Publications

Rebecca Foulger (Genomics England curator)

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
Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza and sufficient unrelated cases (7 sporadic cases plus two brothers and their mother) in PMID:23603762 of patients with epilepsy for inclusion on panel.
Created: 26 Nov 2018, 10:20 a.m.
PMID:23603762 (Poirier et al. 2013) analysed 16 patients with malformations of cortical development (MCD), and found variants in 4 genes including DYNC1H1. Epileptic symptoms were reported in 8 cases of patients with DYNC1H1 variants (7 sporadic cases and two brothers and their mother in family 346). An additional patient, P398, did not show epilepsy. Epileptic symptoms in patients included Early-onset epilepsy, late-onset epilepsy, Lennox Gastaut and Focal seizures.
Created: 26 Nov 2018, 10:17 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are a common feature of this intellectual disability syndrome.
Created: 12 Aug 2018, 7 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 13, MIM#614563

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 13, 614563
  • malformations of cortical development (MCD)
  • Lennox Gastaut
  • Early-onset epilepsy
  • Late-onset epilepsy
  • Focal seizures
OMIM
600112
Clinvar variants
Variants in DYNC1H1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to DYNC1H1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to DYNC1H1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are a common feature

26 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: dync1h1 has been classified as Green List (High Evidence).

26 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: dync1h1 has been classified as Green List (High Evidence).

26 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: DYNC1H1 were changed from Mental retardation, autosomal dominant 13, 614563; Lennox Gastaut; Early-onset epilepsy; Late-onset epilepsy; Focal seizures to Mental retardation, autosomal dominant 13, 614563; malformations of cortical development (MCD); Lennox Gastaut; Early-onset epilepsy; Late-onset epilepsy; Focal seizures

26 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: DYNC1H1 were changed from Mental retardation, autosomal dominant 13, 614563 to Mental retardation, autosomal dominant 13, 614563; Lennox Gastaut; Early-onset epilepsy; Late-onset epilepsy; Focal seizures

26 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: DYNC1H1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

26 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: DYNC1H1 were set to

26 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: DYNC1H1 were changed from to Mental retardation, autosomal dominant 13, 614563

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to DYNC1H1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

DYNC1H1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

DYNC1H1 was created by Sarah Leigh