Activity
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| Likely inborn error of metabolism v8.91 | PAICS | Arina Puzriakova Classified gene: PAICS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.91 | PAICS |
Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green - three unrelated cases with phosphoribosylaminoimidazole carboxylase deficiency, an inborn error of de novo purine synthesis caused by biallelic variants in the PAICS gene (PMID: 31600779; 39604553; 39726239) Inclusion on this panel would also ensure inclusion on the Paediatric disorders super panel which is relevant to the polymalformative syndrome or neurodevelopmental disorder displayed by affected individuals. |
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| Likely inborn error of metabolism v8.91 | PAICS | Arina Puzriakova Gene: paics has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.90 | PAICS | Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype (?Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859) accessed on 27-01-2026 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.90 | PAICS | Arina Puzriakova Phenotypes for gene: PAICS were changed from Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859 to ?Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.89 | PAICS |
Arina Puzriakova gene: PAICS was added gene: PAICS was added to Likely inborn error of metabolism. Sources: Literature Q1_26_promote_green tags were added to gene: PAICS. Mode of inheritance for gene: PAICS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAICS were set to 31600779; 39604553; 39726239 Phenotypes for gene: PAICS were set to Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859 Review for gene: PAICS was set to GREEN Added comment: Pelet et al. 2019 (PMID: 31600779) report an AR inborn error of de novo purine synthesis due to homozygous missense variant in PAICS (c.158A>G; p.Lys53Arg) in 2 siblings from the Faroe islands. Catalytic activity of the mutant protein in patient skin fibroblasts was approx 10% of wild type levels. The siblings had multiple malformations resulting in early neonatal death. Weng et al. 2024 (PMID: 39604553) identified two Taiwanese siblings with compound heterozygous variants, c.535T>C (p.Ser179Pro) and c.1207C>T (p.Arg403Ter). They presented a markedly different clinical course, with both being born at term following uncomplicated pregnancies. However, clinical manifestations did start to emerge from infancy and manifested as progressive cerebral atrophy, epileptic encephalopathy, psychomotor retardation, and retinopathy. Phenotypic variability could be attributed to residual enzyme activities where the Ser179Pro and Arg403Ter proteins had residual activities decreased to 76 and 21%, respectively, compared to 10% of the Lys35Arg protein of Faroe Island patients. Boussion et al. 2025 (PMID: 39726239) reported a 7-year-old boy homozygous for the same p.Lys53Arg mutation as the Faroe cases. This individual presented with a multiple malformations including complex congenital heart disease, skeletal and esophageal defects but normal neurodevelopment. There was a similarly affected sibling with suspected PAICS deficiency, but this was not molecularly confirmed. Sources: Literature |
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