Hereditary neuropathy or pain disorder

Gene: UBA1

Green List (high evidence)

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

Green List (high evidence)

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

• 18179898
• 23518311
• 26028276
• 27699224
• 29034082
• 31932168
• 32181232

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

• 18179898

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