| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hereditary neuropathy or pain disorder v3.60 | UBA1 | Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: UBA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.58 | UBA1 | Sarah Leigh reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.57 | UBA1 |
Achchuthan Shanmugasundram 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) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.21 | UBA1 | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: UBA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.21 | UBA1 | Achchuthan Shanmugasundram Classified gene: UBA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.21 | UBA1 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.21 | UBA1 | Achchuthan Shanmugasundram Gene: uba1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.20 | UBA1 | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.19 | UBA1 | Achchuthan Shanmugasundram Publications for gene: UBA1 were set to 18179898 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.18 | UBA1 |
Achchuthan Shanmugasundram changed review comment from: 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).; to: 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). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.18 | UBA1 | Achchuthan Shanmugasundram edited their review of gene: UBA1: Changed publications to: 18179898, 23518311, 26028276, 27699224, 29034082, 31932168, 32181232 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.18 | UBA1 | Achchuthan Shanmugasundram reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 23518311, 26028276, 31932168, 32181232; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.4 | UBA1 |
Zornitza Stark 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 Added comment: Five families reported, gene is Green on the Paediatric motor neuropathies panel. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||