Arthrogryposis
Gene: GBE1
Congenital contractures seen in fatal perinatal neuromuscular form and congenital neuromuscular formCreated: 5 Jan 2017, 9:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IV 232500
Publications
Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV 232500 to Glycogen storage disease IV, OMIM:232500
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).
Phenotypes for GBE1 were set to Glycogen storage disease IV 232500
Publications for GBE1 were set to 8613547
Mode of inheritance for GBE1 was changed to BIALLELIC, autosomal or pseudoautosomal
GBE1 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
GBE1 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
This gene has been classified as Green List (High Evidence).
GBE1 was added to Arthrogryposispanel. Sources: Expert list
GBE1 was created by ellenmcdonagh