Intellectual disability update Jan 2018
Gene: LARGE1

LARGE1 (LARGE xylosyl- and glucuronyltransferase 1)
EnsemblGeneIds (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 cases, appropriate phenotype
Created: 5 Mar 2018, 12:05 p.m.

Created: 5 Mar 2018, 12:05 p.m.

Panel version: 0.302

Louise Daugherty (Genomics England Curator)

Comment on list classification: Promoted gene status from Red to Green due to evidence found in more than three individuals with an ID phenotype. This is a confirmed DD gene in Gene2Phenotype for Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type a6 and Muscular dystrophy-dystroglycanopathy congenital with mental retardation type b6
Created: 26 Feb 2018, 1:27 p.m.

Comment on phenotypes: Added additional alternative phenotypes.
Created: 26 Feb 2018, 1:21 p.m.

Comment on publications: Added publications to support the association to an ID phenotype
Created: 26 Feb 2018, 1:15 p.m.

Comment on mode of inheritance: added MOI from OMIM
Created: 26 Feb 2018, 1:13 p.m.

Comment on phenotypes: added phenotype from OMIM and Orphanet, both associated Phenotype-Gene Relationships have an ID phenotype
Created: 26 Feb 2018, 1:12 p.m.

Created: 26 Feb 2018, 1:12 p.m.

Panel version: 0.103

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Gene2Phenotype

Phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154
Muscle-eye-brain disease
MDDGA6
Walker-Warburg syndrome
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840
congenital muscular dystrophy-dystroglycanopathy with mental retardation
MDDGB6
Intellectual disability

OMIM

603590

Clinvar variants

Variants in LARGE1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

5 Mar 2018, Gel status: 3

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

5 Mar 2018, Gel status: 3