Paediatric motor neuronopathies
Gene: UBA1EnsemblGeneIds (GRCh38): ENSG00000130985
EnsemblGeneIds (GRCh37): ENSG00000130985
OMIM: 314370, Gene2Phenotype
UBA1 is in 6 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previous phenotypes:
Infantile Spinal Muscular Atrophy, X-Linked;Spinal muscular atrophy, X-linked 2, infantile, 301830Created: 18 Mar 2021, 3:08 p.m. | Last Modified: 18 Mar 2021, 3:08 p.m.
Panel Version: 1.50
Pinki Munot (Consultant )
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
neuronopathy; arthrogryposis; distal more than proximal;
Dragana Josifova (Guy's and St. Thomas' NHS Trust)
Infantile onset, predominantly motor neuropathy with sensory involvementCreated: 26 Nov 2016, 5:31 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications
- PMID: 23518311
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830
- OMIM
- 314370
- Clinvar variants
- Variants in UBA1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: UBA1 were changed from Infantile Spinal Muscular Atrophy, X-Linked; Spinal muscular atrophy, X-linked 2, infantile, 301830 to Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: UBA1 were set to PMID: 23518311
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for UBA1 were set to PMID: 23518311
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Antonio Rueda (GEL)UBA1 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Antonio Rueda (GEL)UBA1 was added to Paediatric motor neuronopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services