Arthrogryposis
Gene: UBA1

UBA1 (ubiquitin like modifier activating enzyme 1)
EnsemblGeneIds (GRCh38): ENSG00000130985
EnsemblGeneIds (GRCh37): ENSG00000130985
OMIM: 314370, Gene2Phenotype
UBA1 is in 6 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

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

Phenotypes
Spinal muscular atrophy, X-linked 2, infantile 301830

Publications

Created: 22 Dec 2016, 2:02 p.m.

Panel version: 1.81

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
UKGTN
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Spinal muscular atrophy, X-linked 2, infantile 301830

OMIM

314370

Clinvar variants

Variants in UBA1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

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.

22 Dec 2016, Gel status: 4