Paediatric motor neuronopathies
Gene: UBA1Comment 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
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
neuronopathy; arthrogryposis; distal more than proximal;
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
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
Publications for gene: UBA1 were set to PMID: 23518311
Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
This gene has been classified as Green List (High Evidence).
Publications for UBA1 were set to PMID: 23518311
This gene has been classified as Green List (High Evidence).
UBA1 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen
UBA1 was added to Paediatric motor neuronopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services