Cataracts

Gene: LARGE1

Red List (low evidence)

LARGE1 (LARGE xylosyl- and glucuronyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000133424
EnsemblGeneIds (GRCh37): ENSG00000133424
OMIM: 603590, Gene2Phenotype
LARGE1 is in 18 panels

3 reviews

Louise Daugherty (Genomics England Curator)

added new-gene-name tag
Created: 9 Dec 2016, 3:30 p.m.

Sarah Waller (Manchester Centre for Genomic Medicine)

I don't know

Only 1 patient reported with a mutation in LARGE has had cataracts. Remaining patients had retinal detachment or other ocular disorders. However cataracts have been described in patients with dystroglycanopathies caused by mutations in other genes.
Created: 14 Jun 2016, 8:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
BIALLELIC, autosomal or pseudoautosomal

Publications

  • van Reeuwijk et al (2007) Hum Genet 121:685-690
  • Meilleur et al (2014) J Neuropathol Exp Neurol 73:425-441

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: We discussed and agreed internally that all genes within the Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) phenotypic series available on OMIM should be demoted to red, as it is unlikely that these conditions would present with cataracts as a main feature.
Created: 27 Jun 2016, 4:27 p.m.
Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A6 (includes cataract as a phenotype). Multiple reports in OMIM for different variants.
Created: 29 Apr 2016, 12:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A6
OMIM
603590
Clinvar variants
Variants in LARGE1
Penetrance
Complete
Publications
  • van Reeuwijk et al (2007) Hum Genet 121:685-690
  • Meilleur et al (2014) J Neuropathol Exp Neurol 73:425-441
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 1

Changed Gene Name

GEL ()

LARGE was changed to LARGE1

5 Nov 2017, Gel status: 1

Removed Tag

GEL ()

new-gene-name was removed from LARGE. Panel: Cataracts

27 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for LARGE were set to van Reeuwijk et al (2007) Hum Genet 121:685-690; Meilleur et al (2014) J Neuropathol Exp Neurol 73:425-441

14 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for LARGE were set to Confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A6

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for LARGE was changed to BIALLELIC, autosomal or pseudoautosomal

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

LARGE was added to Cataractspanel. Sources: UKGTN