Hydrocephalus
Gene: LARGE1
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
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 GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
added new-gene-name tagCreated: 9 Dec 2016, 3:34 p.m.
Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154
Source NHS GMS was added to LARGE1.
LARGE was changed to LARGE1
new-gene-name was removed from LARGE. Panel: Hydrocephalus
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
Phenotypes for LARGE were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154
Publications for LARGE were set to 19067344; 19299310; 12966029
This gene has been classified as Green List (High Evidence).
LARGE was created by oniblock
LARGE was added to Hydrocephaluspanel. Sources: Illumina TruGenome Clinical Sequencing Services