Ataxia and cerebellar anomalies - childhood onset
Gene: LARGE1
LARGE1 (LARGE xylosyl- and glucuronyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000133424
EnsemblGeneIds (GRCh37): ENSG00000133424
OMIM: 603590, Gene2Phenotype
LARGE1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000133424
EnsemblGeneIds (GRCh37): ENSG00000133424
OMIM: 603590, Gene2Phenotype
LARGE1 is in 17 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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
- None
- Publications
- Panels with this gene
-
- Cerebellar hypoplasia
- Ataxia and cerebellar anomalies - childhood onset
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Fetal anomalies
- Hydrocephalus
- Congenital disorders of glycosylation
- Arthrogryposis
- Likely inborn error of metabolism
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Monogenic hearing loss
- Bilateral congenital or childhood onset cataracts
- DDG2P
- Congenital muscular dystrophy
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: LARGE1 was added gene: LARGE1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARGE1 were set to 17436019, 24709677 Phenotypes for gene: LARGE1 were set to Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type