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Hereditary neuropathy NOT PMP22 copy number

Gene: UBA1

No list

UBA1 (ubiquitin like modifier activating enzyme 1)
EnsemblGeneIds (GRCh38): ENSG00000130985
EnsemblGeneIds (GRCh37): ENSG00000130985
OMIM: 314370, Gene2Phenotype
UBA1 is in 7 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Five families reported, gene is Green on the Paediatric motor neuropathies panel.
Sources: Expert list
Created: 2 Apr 2020, 8 a.m.

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

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
Phenotypes
  • Spinal muscular atrophy, X-linked 2, infantile MIM#301830
OMIM
314370
Clinvar variants
Variants in UBA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: UBA1 was added gene: UBA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert list Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: UBA1 were set to 18179898 Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile MIM#301830 Review for gene: UBA1 was set to GREEN gene: UBA1 was marked as current diagnostic