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| Mendeliome v1.3375 | ZDHHC18 | Bryony Thompson Classified gene: ZDHHC18 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3375 | ZDHHC18 | Bryony Thompson Gene: zdhhc18 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3374 | ZDHHC18 |
Bryony Thompson changed review comment from: ZDHHC18 appears among significant CHD genes in the de novo enrichment analysis. Two de novo missense variants (W290L, G297A) were identified in 2 probands via trio analysis in a CHD cohort. Sources: Literature; to: ZDHHC18 appears among significant CHD genes in the de novo enrichment analysis. Two de novo missense variants (W290L, G297A) were identified in 2 probands via trio analysis in a CHD cohort. No functional assays conducted. Sources: Literature |
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| Mendeliome v1.3374 | ZDHHC18 |
Bryony Thompson gene: ZDHHC18 was added gene: ZDHHC18 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ZDHHC18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZDHHC18 were set to 41022857 Phenotypes for gene: ZDHHC18 were set to congenital heart disease MONDO:0005453 Review for gene: ZDHHC18 was set to AMBER Added comment: ZDHHC18 appears among significant CHD genes in the de novo enrichment analysis. Two de novo missense variants (W290L, G297A) were identified in 2 probands via trio analysis in a CHD cohort. Sources: Literature |
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