Malformations of cortical development
Gene: LARGE1EnsemblGeneIds (GRCh38): ENSG00000133424
EnsemblGeneIds (GRCh37): ENSG00000133424
OMIM: 603590, Gene2Phenotype
LARGE1 is in 17 panels
3 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Recognised on G2P. Offered as diagnostic testCreated: 15 Dec 2016, 3:54 p.m.
Louise Daugherty (Genomics England Curator)
added new-gene-name tagCreated: 9 Dec 2016, 3:35 p.m.
Usha Kini (Oxford Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscle-eye-brain disease
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Muscle-eye-brain disease
- OMIM
- 603590
- Clinvar variants
- Variants in LARGE1
- Penetrance
- Complete
- Panels with this gene
-
- Early onset or syndromic epilepsy
- DDG2P
- Cerebellar hypoplasia
- Intellectual disability
- Cerebral vascular malformations
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Monogenic hearing loss
- Fetal anomalies
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Changed Gene Name
GEL ()LARGE was changed to LARGE1
Removed Tag
GEL ()new-gene-name was removed from LARGE. Panel: Malformations of cortical development
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Alice Gardham (Genomics England)LARGE was added to Malformations of cortical developmentpanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Created
Usha Kini (Oxford Centre for Genomic Medicine)LARGE was created by Ushak
Added New Source
Usha Kini (Oxford Centre for Genomic Medicine)LARGE was added to Malformations of cortical developmentpanel. Sources: Expert Review