| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.4071 | PFAS | Zornitza Stark Marked gene: PFAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4071 | PFAS | Zornitza Stark Gene: pfas has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4071 | PFAS | Zornitza Stark Classified gene: PFAS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4071 | PFAS | Zornitza Stark Gene: pfas has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4070 | PFAS |
Zornitza Stark gene: PFAS was added gene: PFAS was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PFAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PFAS were set to 40421664 Phenotypes for gene: PFAS were set to Inborn error of metabolism, MONDO:0019052, PFAS-related Review for gene: PFAS was set to AMBER Added comment: PMID 40421664 reports 2 individuals from 2 unrelated families with biallelic missense variants presenting with prematurity, short stature, seizures, and mild neurodevelopmental impairment. Functional studies in patient fibroblasts show ~30% PFAS protein, ~16% enzyme activity, impaired purinosome formation, and rescue of purinosome formation and FGAR levels by wild‑type PFAS, supporting pathogenicity. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||