| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.80 | PHYKPL | Zornitza Stark Marked gene: PHYKPL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.80 | PHYKPL | Zornitza Stark Gene: phykpl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.80 | PHYKPL | Zornitza Stark Classified gene: PHYKPL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.80 | PHYKPL | Zornitza Stark Gene: phykpl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.66 | PHYKPL |
Sangavi Sivagnanasundram gene: PHYKPL was added gene: PHYKPL was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PHYKPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHYKPL were set to 23242558 Phenotypes for gene: PHYKPL were set to phosphohydroxylysinuria MONDO:0014008 Review for gene: PHYKPL was set to RED Added comment: Chet individual reported with variants in this gene and a phenotype similar to EDS. This individual was not reported to any metabolic phenotype. No other reports published at this stage to support gene-disease association. Classified as Limitied by ClinGen Aminoacidopathy GCEP on 17/11/2023 https://search.clinicalgenome.org/CCID:005792 Sources: ClinGen |
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