Laterality disorders and isomerism

Gene: PKD1L1

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 8 Mar 2022, 11:09 a.m. | Last Modified: 8 Mar 2022, 11:09 a.m.

Panel Version: 1.47

This gene is associated with the appropriate phenotype in OMIM and Gen2Phen. There are 3 cases (PMID: 31026592, 27616478) that support a gene-disease association. There are also several mouse and fish models (PMID: 20080492, 21307093, 27272319) that show that this gene is involved with L-R patterning. There is enough evidence for this gene to be promoted to Green and this will happen at the next major review of this panel.

Created: 8 Sep 2020, 9:47 a.m. | Last Modified: 8 Sep 2020, 9:47 a.m.

Panel Version: 1.16

Green List (high evidence)

Additional family reported.

Created: 30 Jul 2020, 10:08 a.m. | Last Modified: 30 Jul 2020, 10:08 a.m.

Panel Version: 1.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 31026592

Comment on list classification: Rated as amber following discussion with NHS GMS respiratory specialist test group 18/01/19.

Created: 18 Jan 2019, 9:56 p.m.

I don't know

From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Ian Berry to add supporting publications/MOI/Phenotype and to confirm Amber or Green rating.

Created: 21 Jan 2019, 4:48 p.m.

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: PKD1L1; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given

Created: 5 Dec 2018, 12:52 p.m.