Recognised on G2P
Created: 5 Jan 2017, 9:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Schwartz-Jampel syndrome, type 1 255800
Phenotypes for gene: HSPG2 were changed from Schwartz-Jampel syndrome, type 1 255800 to Schwartz-Jampel syndrome, type 1, OMIM:255800; Schwartz-Jampel syndrome, MONDO:0009717
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 HSPG2 were set to Schwartz-Jampel syndrome, type 1 255800
Publications for HSPG2 were set to 11101850, 155254
HSPG2 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
HSPG2 was added to Arthrogryposispanel. Sources: Expert list
HSPG2 was created by ellenmcdonagh