Cerebellar hypoplasia
Gene: LARGE1EnsemblGeneIds (GRCh38): ENSG00000133424
EnsemblGeneIds (GRCh37): ENSG00000133424
OMIM: 603590, Gene2Phenotype
LARGE1 is in 17 panels
2 reviews
Louise Daugherty (Genomics England Curator)
added new-gene-name tagCreated: 9 Dec 2016, 3:32 p.m.
Alice Gardham (Genomics England)
Multiple brain anomalies seen including cerebellar anomaliesCreated: 16 Nov 2016, 9:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Congenital Muscular Dystrophy, alpha-dystroglycan related
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- OMIM
- 603590
- Clinvar variants
- Variants in LARGE1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Cerebellar hypoplasia
- 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
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Intellectual disability
- 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: Cerebellar hypoplasia
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
Set publications
Alice Gardham (Genomics England)Publications for LARGE were set to 17436019, 24709677
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)LARGE was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)LARGE was added to Cerebellar hypoplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen