Cholestasis

Gene: PKHD1

Amber List (moderate evidence)

PKHD1 (PKHD1, fibrocystin/polyductin)
EnsemblGeneIds (GRCh38): ENSG00000170927
EnsemblGeneIds (GRCh37): ENSG00000170927
OMIM: 606702, Gene2Phenotype
PKHD1 is in 18 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is Green on the Neonatal cholestasis panel (v1.13). There is enough evidence to support a gene-disease association; however, this gene has been given an Amber rating and a "for-review" tag for consideration of promoting to Green status at the next major review.
Created: 16 Nov 2020, 10:53 a.m. | Last Modified: 16 Nov 2020, 10:53 a.m.
Panel Version: 1.72

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Periportal fibrosis is a key feature, cholestasis reported.
Sources: Expert list
Created: 9 Aug 2020, 10:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

16 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pkhd1 has been classified as Amber List (Moderate Evidence).

16 Nov 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PKHD1 were changed from Polycystic kidney disease 4, with or without hepatic disease, 263200 to Polycystic kidney disease 4, with or without hepatic disease, OMIM:263200; MONDO:0044327

16 Nov 2020, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: PKHD1.

9 Oct 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PKHD1 were changed from Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 to Polycystic kidney disease 4, with or without hepatic disease, 263200

9 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: PKHD1 was added gene: PKHD1 was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKHD1 were set to 30366773; 25771912; 8616994 Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 Review for gene: PKHD1 was set to GREEN gene: PKHD1 was marked as current diagnostic