Hydrocephalus

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

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Sufficient evidence for causation. Ventricular dilatation is a reported feature.
Created: 4 May 2017, 9:39 a.m.
Sufficient unrelated cases for causation. Ventricular dilatation reported in association with other neurological structural abnormalities. Mutational spectrum reported also includes large insertions and deletions.
Created: 4 May 2017, 9:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154

Publications

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
added new-gene-name tag
Created: 9 Dec 2016, 3:34 p.m.

Details

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS 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: Hydrocephalus

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

4 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for LARGE were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154

4 May 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for LARGE were set to 19067344; 19299310; 12966029

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

9 Dec 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

LARGE was created by oniblock

9 Dec 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

LARGE was added to Hydrocephaluspanel. Sources: Illumina TruGenome Clinical Sequencing Services