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| Mendeliome v2.334 | GRIPAP1 | Sangavi Sivagnanasundram Classified gene: GRIPAP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.334 | GRIPAP1 | Sangavi Sivagnanasundram Gene: gripap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.328 | GRIPAP1 |
Sangavi Sivagnanasundram gene: GRIPAP1 was added gene: GRIPAP1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: GRIPAP1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GRIPAP1 were set to 28285821 Phenotypes for gene: GRIPAP1 were set to GRIPAP1-related neurodevelopmental disorder MONDO:0001071 Review for gene: GRIPAP1 was set to AMBER Added comment: PMID 28285821 (reports gene alias GRASP1) reports three individuals (2 sibs) from two unrelated X‑linked families with severe intellectual disability. Mouse Grasp1 knockout recapitulates learning and memory deficits; wild‑type GRIPAP1 rescues spine loss, whereas the patient missense mutants fail to rescue, demonstrating loss‑of‑function. Two missense vairants were identified. Both present in gnomAD v4.1 c.2465G>A R822Q- PopMax AF0.12% in AJ population but NFE PopMax AF is 0.0003368%, 1 hemozygote also reported. c.218G>A S73N - too common for XLD condition, FAF 0.4%, 7 homs and 1263 hemizygotes Sources: Literature |
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