Congenital muscular dystrophy

Gene: LARGE1

Green List (high evidence)

LARGE1 (LARGE xylosyl- and glucuronyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000133424
EnsemblGeneIds (GRCh37): ENSG00000133424
OMIM: 603590, Gene2Phenotype
LARGE1 is in 19 panels

4 reviews

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840

Publications

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

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Green review and > 3 cases/families reported. Confirmed DD gene for both type B and type A.
Created: 24 Jan 2017, 4:34 p.m.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 29 Apr 2019, 3:37 p.m.
added new-gene-name tag
Created: 9 Dec 2016, 3:33 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • 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 A, 6 613154
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840
OMIM
603590
Clinvar variants
Variants in LARGE1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene LARGE1 were changed from to 12966029

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to LARGE1.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to LARGE1.

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

LARGE was changed to LARGE1

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from LARGE. Panel: Congenital muscular dystrophy

27 Jan 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

24 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

24 Jan 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for LARGE were set to Congenital Muscular Dystrophy, alpha-dystroglycan related;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840

19 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

LARGE was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

23 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

LARGE was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

23 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

LARGE was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

23 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

LARGE was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LARGE was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen