| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Heart Defect v0.324 | PKD1L1 | Zornitza Stark Marked gene: PKD1L1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.324 | PKD1L1 | Zornitza Stark Gene: pkd1l1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.324 | PKD1L1 | Zornitza Stark Classified gene: PKD1L1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.324 | PKD1L1 | Zornitza Stark Gene: pkd1l1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.315 | PKD1L1 |
Joce vd Bergen gene: PKD1L1 was added gene: PKD1L1 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKD1L1 were set to PMID: 27616478; 31026592; 3079108; 30791085; 33655537 Phenotypes for gene: PKD1L1 were set to Heterotaxy, visceral, 8, autosomal; HTX8 (MIM617205) Review for gene: PKD1L1 was set to GREEN Added comment: Numerous families (6 families, 9 affected individuals) reported with heterotaxy and complex congenital heart defects, with biallelic variants (primarily nonsense, frameshift, splice site and a missense variant) in the PKD1L1 gene. Three reports with additional features (3079108, 30791085, 30791085), such as congenital asplenia, sideroblastic anemia, hydrops fetalis. Several animal models suggest PKD1L1 plays a significant role in the development of L-R asymmetry and establish the L-R axis in vertebrate organisms, including mouse null and missense substitution models and a medaka knockout. Where complex congenital heart defects are often associated with laterality defects (ranging from situs inversus totalis (SIT) to situs ClinVar: reports all published variants presented, plus 1 additional nonsense variant (not published). Summary: likely pathogenic/pathogenic (6 nonsense loss of function, 2 splice site and 1 missense variant), associated with autosomal visceral heterotaxy type 8, MIM 617205). Sources: Literature |
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