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| Genetic Epilepsy v0.974 | PGAP2 | Zornitza Stark Marked gene: PGAP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.974 | PGAP2 | Zornitza Stark Gene: pgap2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.974 | PGAP2 | Zornitza Stark Classified gene: PGAP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.974 | PGAP2 | Zornitza Stark Gene: pgap2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.973 | PGAP2 |
Zornitza Stark gene: PGAP2 was added gene: PGAP2 was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP2 were set to 23561846; 23561847; 31805394; 29119105; 27871432 Phenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628 Review for gene: PGAP2 was set to AMBER Added comment: Bi-allelic variants in this gene are typically associated with severe DD/ID, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase, although presentations with milder ID have also been reported. More than 10 unrelated families reported. Although HPMRS disorders are frequently associated with seizures, this seems a less frequently reported feature associated with variants in this gene. Sources: Expert Review |
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