Arthrogryposis
Gene: LARGE1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
added new-gene-name tagCreated: 9 Dec 2016, 3:33 p.m.
LARGE was changed to LARGE1
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
LARGE was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services LARGE was added to Arthrogryposispanel. Source: UKGTN LARGE was added to Arthrogryposispanel. Source: Emory Genetics Laboratory LARGE was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen LARGE was added to Arthrogryposispanel. Source:
LARGE was added to Arthrogryposispanel. Sources: Expert list
LARGE was created by ellenmcdonagh