Heterotaxy

Gene: PKD1L1

Comment when marking as ready: Additional family reported, promote to Green.

Created: 30 Jul 2020, 10:03 a.m. | Last Modified: 30 Jul 2020, 10:03 a.m.

Panel Version: 0.109

Green List (high evidence)

Additional report may help to put this gene on the green list

Created: 30 Jul 2020, 4:17 a.m. | Last Modified: 30 Jul 2020, 4:17 a.m.

Panel Version: 0.106

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
heterotaxy and congenital heart disease without pulmonary ciliary dyskinesia

Publications

• PMID: 31026592 (in addition to those listed below)

I don't know

Inconclusive supporting evidence. Left as amber for now, pending additional reports.

Postema 2020: Hom variant reported in a patient with non-PCD SI (https://doi.org/10.1038/s41598-020-60589-z) Same splice variant reported in Ventrini.

PMID: 27616478; Ventrini 2016: Reported biallelic variants in 2 families with laterality defects. 1 hom missense and 1 hom intronic deletion at the donor site (no splicing assays performed, variant present in gnomAD 96 hets; 0 hom). Authors mentions laterality defects in mouse and fish models.

PMID: 30664273; Berauer 2019: Reported biallelic variants in 5 biliary atresia splenic malformation (BASM) patients (9 diff variants). Polysplenia, Intestinal malrotation and abdominal heterotaxy were reported. However, p.(Arg2317Trp) and p.(Ser2473Phe) both present in gnomad including 1 hom each. c.2675+4C>T - 11 hom in gnomAD

PMID: 20080492; Vogel 2010: Approximately one-third of surviving Pkd1l1 -/- mice showed situs inversus

Amber in PanelApp UK

Created: 27 May 2020, 2:25 a.m. | Last Modified: 27 May 2020, 2:25 a.m.

Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy, visceral, 8, autosomal (MIM#617205)

Publications

• 27616478
• 30664273
• 20080492