Regression
Gene: ARG1
Arginase deficiency is a urea cycle disorder, in which untreated individuals is characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening or to cause death. Most commonly, birth and early childhood are normal. Untreated individuals have slowing of linear growth at age one to three years, followed by development of spasticity, plateauing of cognitive development, and subsequent loss of developmental milestones. If untreated, arginase deficiency usually progresses to severe spasticity, loss of ambulation, complete loss of bowel and bladder control, and severe intellectual disability.
Well established gene-disease association.Created: 5 Oct 2022, 7:26 a.m. | Last Modified: 5 Oct 2022, 7:26 a.m.
Panel Version: 0.505
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Argininaemia MIM#207800
Gene: arg1 has been classified as Green List (High Evidence).
Phenotypes for gene: ARG1 were changed from to Argininaemia MIM#207800
Mode of inheritance for gene: ARG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tag treatable tag was added to gene: ARG1.
gene: ARG1 was added gene: ARG1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ARG1 was set to Unknown