Malformations of cortical development

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 16 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Recognised on G2P. Offered as diagnostic test
Created: 15 Dec 2016, 3:46 p.m.

Usha Kini (Oxford Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pachygyria; peripheral neuropathy

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mental retardation, autosomal dominant 13 614563
OMIM
600112
Clinvar variants
Variants in DYNC1H1
Penetrance
Complete
Panels with this gene

History Filter Activity

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

15 Dec 2016, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for DYNC1H1 were set to Mental retardation, autosomal dominant 13 614563

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

15 Dec 2016, Gel status: 0

Upload gene information

Alice Gardham (Genomics England)

DYNC1H1 was added to Malformations of cortical developmentpanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

8 Dec 2016, Gel status: 0

Created

Usha Kini (Oxford Centre for Genomic Medicine)

DYNC1H1 was created by Ushak

8 Dec 2016, Gel status: 0

Added New Source

Usha Kini (Oxford Centre for Genomic Medicine)

DYNC1H1 was added to Malformations of cortical developmentpanel. Sources: Expert Review