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  2. BRIDGE_SPEED_NEURO_20170705
  3. LARGE1
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BRIDGE_SPEED_NEURO_20170705

Gene: LARGE1

Green List (high evidence)
LARGE1 (LARGE xylosyl- and glucuronyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000133424
EnsemblGeneIds (GRCh37): ENSG00000133424
OMIM: 603590, Gene2Phenotype
LARGE1 is in 17 panels

2 reviews

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: 28 Jul 2017, 9:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 2 Aug 2017, 4:37 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

added new-gene-name tag, new approved HGNC gene symbol is LARGE1
Created: 31 Jul 2017, 12:17 p.m.
Created: 31 Jul 2017, 12:17 p.m.

Panel version: 0.92

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
Phenotypes
  • 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
Panels with this gene

History Filter Activity

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: BRIDGE_SPEED_NEURO_20170705

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

LARGE was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

LARGE was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green