Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: LARGE1

Green List (high evidence)

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

5 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient cases, appropriate phenotype
Created: 5 Mar 2018, 12:05 p.m.

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6 (MDDGA6)

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_gilissen_2014_known;in_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 7:12 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; gilissen_2014_known; UKGTN_v12; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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. Comment on phenotypes: Added additional alternative phenotypes. Added phenotype from OMIM and Orphanet, both associated Phenotype-Gene Relationships have an ID phenotype. Comment on publications: Added publications to support the association to an ID phenotype. Comment on mode of inheritance: added MOI from OMIM.
Created: 12 Mar 2018, 9:47 a.m.
added new-gene-name tag
Created: 9 Dec 2016, 3:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Lu Raymond (university of cambridge )

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Gene2Phenotype
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to LARGE1.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 4

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Gene2Phenotype was added to LARGE1. Panel: Intellectual disability Publications for gene LARGE1 was set to ['12966029', '19067344', '17436019', '19299310', '21248746']

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: Intellectual disability

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

LARGE was added to Intellectual disabilitypanel. Source: Expert Review Green Model of inheritance for gene LARGE was set to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

LARGE was added to Intellectual disabilitypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LARGE was added to Intellectual disabilitypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen