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| Mendeliome v2.347 | IQGAP1 | Zornitza Stark Marked gene: IQGAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.347 | IQGAP1 | Zornitza Stark Gene: iqgap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.347 | IQGAP1 | Zornitza Stark Classified gene: IQGAP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.347 | IQGAP1 | Zornitza Stark Gene: iqgap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.89 | IQGAP1 |
Sangavi Sivagnanasundram gene: IQGAP1 was added gene: IQGAP1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: IQGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IQGAP1 were set to 37635636; 34328347; 30232381 Phenotypes for gene: IQGAP1 were set to Tetralogy of Fallot MONDO:0008542; Annular Pancreas MONDO:0008183 Review for gene: IQGAP1 was set to AMBER Added comment: There are no pathogenic variants reported in ClinVar and no Morbid gene entry in OMIM as of this review. Given the uncertainty of the GDA, the overall classification for this gene is AMBER. Further reports and functional evidence is required. TOF assertion - AMBER PMID: 30232381and 34328347 report five unrelated families with probands presenting with tetralogy of fallot along with heterozygous loss-of-function variants. LoF is not yet an established mechanism of disease for IQGAP1 however some of the reported variants are rare/absent in gnomAD v4.1. Annular pancreas - RED PMID: 37635636 presents 7 unrelated families with heterozygous missense variants presenting with annual pancreas (congenital pancreatic malformation). The missense variants reported in affected individuals have a higher FAF in gnomAD for an AD GDA. Further reports and evidence is required to upgrade this assertion. Sources: Literature |
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