Hereditary neuropathy or pain disorder
Gene: UBA1
The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 6:06 p.m. | Last Modified: 10 Oct 2023, 6:06 p.m.
Panel Version: 3.58
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Comment on list classification: There is sufficient evidence (at least nine unrelated cases and supportive functional evidence) available for this gene to be promoted to GREEN at the next major review.Created: 30 Apr 2023, 9:18 p.m. | Last Modified: 30 Apr 2023, 9:18 p.m.
Panel Version: 3.21
As reported in PMID:18179898 and reviewed in OMIM, X-linked spinal muscular atrophy-2 (SMAX2) is characterised by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures, known as arthrogryposis, associated with loss of anterior horn cells and infantile death. Variants in UBA1 gene ( p.Asn577Asn in three families, and p.Met539Ile and p.Ser547Gly in one family each) were identified in five of screened X-linked spinal muscular atrophy families.
Additional unrelated cases with variants in UBA1 gene are reported in PMIDs: 23518311, 26028276, 31932168 & 32181232.
This gene has been reported with relevant phenotypes in OMIM (MIM #301830).Created: 30 Apr 2023, 12:28 p.m. | Last Modified: 30 Apr 2023, 9:16 p.m.
Panel Version: 3.18
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830
Publications
Five families reported, gene is Green on the Paediatric motor neuropathies panel.
Sources: Expert listCreated: 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
Tag Q2_23_promote_green was removed from gene: UBA1.
Source Expert Review Green was added to UBA1. Source NHS GMS was added to UBA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_23_promote_green tag was added to gene: UBA1.
Gene: uba1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: UBA1 were changed from Spinal muscular atrophy, X-linked 2, infantile MIM#301830 to Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830
Publications for gene: UBA1 were set to 18179898
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