Hereditary spastic paraplegiaGene: ARG1
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.
Created: 7 Jan 2019, 2:58 p.m.
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.
Created: 7 Jan 2019, 2:53 p.m.
Wu (2015, 26310552) identified 9 ARG1 varaints in 7 Chinese patients-3 boys and 4 girls with progressive spastic tetraplegia and poor physical growth. 9 variants in ARG1 were identified from the 7 patients, including 7 novel variants. Some of the patients were related but the article is in Chinese so further details aren't known.
Created: 7 Jan 2019, 2:52 p.m.
Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 2:11 p.m.
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
Created: 27 Nov 2018, 4:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Argininaemia; Progressive spastic tetraplegia
Phenotypes for gene: ARG1 were changed from Argininaemia; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Publications for gene: ARG1 were set to 26310552; 23859858
Gene: arg1 has been classified as Green List (High Evidence).
Gene: arg1 has been classified as Red List (Low Evidence).
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