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| Hereditary spastic paraplegia v1.235 | ARG1 | Arina Puzriakova Phenotypes for gene: ARG1 were changed from Argininaemia, 207800; Progressive spastic tetraplegia to Argininemia, OMIM:207800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.155 | CYP27A1 | Rebecca Foulger commented on gene: CYP27A1: PMID:28623566 (Chen et al 2017) investigated clinical symptoms of Chinese CTX patients. Three novel variants of p.Arg513Cys, c.1477-2A>C in family 1 and p.Arg188Stop in family 4 (NM 000784.3) in CYP27A1 were found. The probands in the study manifested cerebellar ataxia, tendon xanthoma and spastic paresis in family 1 and 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.151 | ARG1 | Rebecca Foulger Phenotypes for gene: ARG1 were changed from Argininaemia; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.150 | ARG1 | Rebecca Foulger Publications for gene: ARG1 were set to 26310552; 23859858 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.149 | ARG1 | Rebecca Foulger Classified gene: ARG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.149 | ARG1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: ARG1 was added to the panel by Chris Buxton (Bristol NHS). Sufficient cases from PMID:23859858 (which overlaps with PMID:26310552) to support causation of progressive spastic tetraplegia. Additional cases are reported on OMIM: spastic tetraplegia was seen in a Japanese girl with argininemia and compound het variants in ARG1 (PMID:2365823, Haraguchi et al 1990), and in a Japanese patient identified by Uchino et al, 1992 (PMID:1463019) with compound het variants in ARG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.149 | ARG1 | Rebecca Foulger Gene: arg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.148 | ARG1 | Rebecca Foulger commented on gene: ARG1: Wu (2013, 23859858) is very similar to PMID:26310552. They investigated 5 Chinese patients (3 boys, 2 girls) with argininemia in whom it mainly manifested as progressive spastic tetraplegia. Homozygous variants in ARG1 were found in patients 1 and 5, and compound het variants were found in patients 2, 3 and 4. Although not explicitly stated, from the text it sounds like the patients are not related. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.148 | ARG1 | Rebecca Foulger commented on gene: ARG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.130 | ARG1 | Sarah Leigh Classified gene: ARG1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.130 | ARG1 | Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.130 | ARG1 | Sarah Leigh Gene: arg1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.71 | ARG1 |
Chris Buxton gene: ARG1 was added gene: ARG1 was added to Hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARG1 were set to 26310552; 23859858 Phenotypes for gene: ARG1 were set to Argininaemia; Progressive spastic tetraplegia Penetrance for gene: ARG1 were set to unknown Added comment: Spastic tetraplegia noted with ARG1 deficiency argininemia in neonates. Symptoms similar to cerebeal palsy so Dx is delayed Wu (2015, 26310552) identified 9 ARG1 varaints in 7 patients. Wu (2013, 23859858), similar paper to the above one. Progressive spastic tetraplegia, poor physical growth from 1 month to 4 years. When argininemia was found at the ages of 4 to 12 years, four of patients had mental retardation, and three had seizures. 6 ARG1 mutations identified. On Sheffield HSP panel Sources: Literature |
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