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| Genetic Epilepsy v0.976 | PGAP3 | Zornitza Stark Marked gene: PGAP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.976 | PGAP3 | Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.976 | PGAP3 | Zornitza Stark Classified gene: PGAP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.976 | PGAP3 | Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.975 | PGAP3 |
Zornitza Stark gene: PGAP3 was added gene: PGAP3 was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP3 were set to 24439110; 29620724; 30345601; 30217754 Phenotypes for gene: PGAP3 were set to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318 Review for gene: PGAP3 was set to GREEN Added comment: Bi-allelic variants in this gene are associated with severe DD/ID, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase. More than 15 unrelated families reported. Sources: Expert Review |
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