Comment when marking as ready: Congenital contractures often seen in this form of SMA
Created: 22 Dec 2016, 2:03 p.m.
Mutations identified in 14 families-all in exon 15 to date. Offered on UKGTN SMA panel
Created: 22 Dec 2016, 2:02 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Spinal muscular atrophy, X-linked 2, infantile 301830
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 UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile 301830
Publications for UBA1 were set to 18179898; 20301739
Mode of inheritance for UBA1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
UBA1 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
UBA1 was created by ellenmcdonagh
UBA1 was added to Arthrogryposispanel. Sources: Expert list