| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Additional findings_Adult v1.75 | OAT | Zornitza Stark Marked gene: OAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.75 | OAT | Zornitza Stark Gene: oat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.75 | OAT | Zornitza Stark Classified gene: OAT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.75 | OAT | Zornitza Stark Gene: oat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.74 | OAT |
Zornitza Stark gene: OAT was added gene: OAT was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870 Review for gene: OAT was set to GREEN Added comment: MODERATE actionability by ClinGen. The condition is characterized by the development of chorioretinal atrophic patches that start in the mid-peripheral retina in the first decade of life. Myopia, night blindness, changes in the macula (including cystic changes), and visual field affection usually start in the first or second decade. Most patients with GA have posterior subcapsular cataracts by the end of the second decade. Irreversible loss of vision and blindness generally occurs between 40 and 55 years of age but is highly variable. Treatment of GA consists mainly of dietary modifications to help lower elevated systemic ornithine levels. Restriction of dietary arginine, a precursor of ornithine, appears to have therapeutic value. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.21 | ASS1 |
Zornitza Stark gene: ASS1 was added gene: ASS1 was added to Additional findings_Adult. Sources: Literature Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASS1 were set to Citrullinemia MIM#215700 Review for gene: ASS1 was set to GREEN Added comment: Approximately 1/3 of individuals present with late onset. Hyperammonaemia can be triggered by protein overload, catabolic events (including pregnancy), or certain drugs and can lead to neurological deficits. Liver failure is now recognized as a primary presentation. Hepatic dysfunction, when present, is often noted at the time of initial hyperammonaemic episode but has also developed in individuals not experiencing significant hyperammonemia. The mainstay of long-term management is dietary treatment based on minimizing the nitrogen load on the urea cycle under the expertise of a specialist metabolic dietician; may also include nitrogen scavengers. Elective surgery should be performed in centers with a metabolic department including emergency treatment options for hyperammonaemia. Steroids and valproate contraindicated. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.19 | CPS1 |
Zornitza Stark gene: CPS1 was added gene: CPS1 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency MIM#237300 Review for gene: CPS1 was set to GREEN Added comment: Can rarely present in adulthood, including in the postpartum period with coma. ACMG factsheet relating to management of adults: https://www.acmg.net/PDFLibrary/CPS-I-Deficiency-Transition.pdf. Management aims to maintain stable metabolic control and to reduce or eliminate chronic complications. Treatment includes medications to promote waste nitrogen excretion (nitrogen scavengers such as sodium benzoate, sodium phenylacetate, sodium phenylbutyrate, and glycerol phenylbutyrate); low-protein diet; and supplementation with arginine or citrulline, essential nutrients, and essential amino acids. Given the risk of acute metabolic decompensation during surgery and general anaesthesia, elective surgery should only be carried out in centers able and prepared to deal with hyperammonemic decompensations. Specialised management is also required during pregnancy. Steroids and valproate are to be avoided. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.9 | SLC25A15 |
Zornitza Stark gene: SLC25A15 was added gene: SLC25A15 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A15 were set to Hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , MIM#238970 Review for gene: SLC25A15 was set to GREEN Added comment: Approximately one third of individuals present in adolescence/adulthood. Long-term management aims to maintain stable metabolic control, to reduce chronic complications, and to achieve as close to normal development and growth as possible. A low protein diet and citrulline or arginine supplementation is recommended, which prevents hyperammonemia and liver disease but the impact of these measures on pyramidal dysfunction is unclear. Optimal protein intake must be determined by individual titration in every individual. If protein tolerance is very low, essential amino acids have to be supplemented. Vitamin and trace element supplementation may also be required. A specialist metabolic dietitian should be involved. Nitrogen scavengers (sodium benzoate, sodium phenylbutyrate [PBA] or sodium phenylacetate, glycerol phenylbutyrate) are a mainstay of therapy in individuals with a UCD. Individualized dosing is recommended. Presentation can be non-specific and diagnostic delay is common. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||