Hydrocephalus
Gene: LARGE1EnsemblGeneIds (GRCh38): ENSG00000133424
EnsemblGeneIds (GRCh37): ENSG00000133424
OMIM: 603590, Gene2Phenotype
LARGE1 is in 17 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient evidence for causation. Ventricular dilatation is a reported feature.Created: 4 May 2017, 9:39 a.m.
Sufficient unrelated cases for causation. Ventricular dilatation reported in association with other neurological structural abnormalities. Mutational spectrum reported also includes large insertions and deletions.Created: 4 May 2017, 9:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154
Publications
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
added new-gene-name tagCreated: 9 Dec 2016, 3:34 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154
- 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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to LARGE1.
Changed Gene Name
GEL ()LARGE was changed to LARGE1
Removed Tag
GEL ()new-gene-name was removed from LARGE. Panel: Hydrocephalus
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for LARGE were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154
Set publications
Helen Brittain (Genomics England Curator)Publications for LARGE were set to 19067344; 19299310; 12966029
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Olivia Niblock (Genomics England Curator)LARGE was created by oniblock
Added New Source
Olivia Niblock (Genomics England Curator)LARGE was added to Hydrocephaluspanel. Sources: Illumina TruGenome Clinical Sequencing Services