Hereditary Neuropathy_CMT - isolated
Gene: UBA1EnsemblGeneIds (GRCh38): ENSG00000130985
EnsemblGeneIds (GRCh37): ENSG00000130985
OMIM: 314370, Gene2Phenotype
UBA1 is in 10 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
X-linked infantile spinal muscular atrophy (XL-SMA) is characterised by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures (arthrogryposis), associated with loss of anterior horn cells and infantile death. More than 10 families reported, functional data.Created: 28 Sep 2020, 4:35 a.m. | Last Modified: 28 Sep 2020, 4:35 a.m.
Panel Version: 0.51
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830
Publications
Bryony Thompson (Royal Melbourne Hospital)
Five families reported. Children with XL-SMA usually die from respiratory failure by age two years; however, the age at death ranges from the neonatal period to adolescence, the latter in those exceptional cases in which extensive respiratory and medical support are provided (genereviews).Created: 23 Mar 2020, 4:46 a.m. | Last Modified: 23 Mar 2020, 4:46 a.m.
Panel Version: 0.6
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spinal muscular atrophy, X-linked 2, infantile MIM#301830
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- dHMN/dSMA
- Spinal muscular atrophy, X-linked 2, MIM# 301830
- OMIM
- 314370
- Clinvar variants
- Variants in UBA1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: UBA1 were changed from dHMN/dSMA; Spinal muscular atrophy, X-linked 2 to dHMN/dSMA; Spinal muscular atrophy, X-linked 2, MIM# 301830
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: UBA1 were set to
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: uba1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: uba1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: UBA1 was added gene: UBA1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBA1 were set to dHMN/dSMA; Spinal muscular atrophy, X-linked 2