Arthrogryposis
Gene: POMGNT1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
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).
POMGNT1 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services POMGNT1 was added to Arthrogryposispanel. Source: UKGTN POMGNT1 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory POMGNT1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen POMGNT1 was added to Arthrogryposispanel. Source: Model of inheritance for gene POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
POMGNT1 was added to Arthrogryposispanel. Sources: Expert list
POMGNT1 was created by ellenmcdonagh