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Arthrogryposis

Gene: UBA1

Green List (high evidence)

UBA1 (ubiquitin like modifier activating enzyme 1)
EnsemblGeneIds (GRCh38): ENSG00000130985
EnsemblGeneIds (GRCh37): ENSG00000130985
OMIM: 314370, Gene2Phenotype
UBA1 is in 4 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

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

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

22 Dec 2016, Gel status: 3

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile 301830

22 Dec 2016, Gel status: 3

Set publications

Alice Gardham (Genomics England)

Publications for UBA1 were set to 18179898; 20301739

22 Dec 2016, Gel status: 3

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for UBA1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

22 Dec 2016, Gel status: 3

Upload gene information

Alice Gardham (Genomics England)

UBA1 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

UBA1 was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

UBA1 was added to Arthrogryposispanel. Sources: Expert list