Laterality disorders and isomerism

Gene: PKD1L1

Amber List (moderate evidence)

PKD1L1 (polycystin 1 like 1, transient receptor potential channel interacting)
EnsemblGeneIds (GRCh38): ENSG00000158683
EnsemblGeneIds (GRCh37): ENSG00000158683
OMIM: 609721, Gene2Phenotype
PKD1L1 is in 6 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Zornitza Stark (Australian Genomics)

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

Anna de Burca (Genomics England Curator)

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.

Louise Daugherty (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Heterotaxy, visceral, 8, autosomal, 617205
Tags
for-review
OMIM
609721
Clinvar variants
Variants in PKD1L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Sep 2020, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: PKD1L1.

8 Sep 2020, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PKD1L1 were set to 31026592; 27616478

8 Sep 2020, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: PKD1L1 was changed from to BIALLELIC, autosomal or pseudoautosomal

8 Sep 2020, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PKD1L1 were set to 31026592

8 Sep 2020, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PKD1L1 were set to

8 Sep 2020, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PKD1L1 were changed from to Heterotaxy, visceral, 8, autosomal, 617205

18 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

Gene: pkd1l1 has been classified as Amber List (Moderate Evidence).

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to PKD1L1. Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PKD1L1 was added gene: PKD1L1 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: PKD1L1 was set to