Renal Ciliopathies and Nephronophthisis
Gene: PKHD1
PKHD1 (PKHD1, fibrocystin/polyductin)
EnsemblGeneIds (GRCh38): ENSG00000170927
EnsemblGeneIds (GRCh37): ENSG00000170927
OMIM: 606702, Gene2Phenotype
PKHD1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000170927
EnsemblGeneIds (GRCh37): ENSG00000170927
OMIM: 606702, Gene2Phenotype
PKHD1 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Included due to possible phenotypic overlap.
Sources: Expert ReviewCreated: 12 Oct 2020, 5:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
- OMIM
- 606702
- Clinvar variants
- Variants in PKHD1
- Penetrance
- None
- Panels with this gene
-
- Polycystic liver disease
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Cholestasis
- Renal Macrocystic Disease
- Mendeliome
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Prepair 500+
History Filter Activity
12 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pkhd1 has been classified as Green List (High Evidence).
12 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pkhd1 has been classified as Green List (High Evidence).
12 Oct 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PKHD1 was added gene: PKHD1 was added to Renal Ciliopathies and Nephronophthisis. Sources: Expert Review Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal 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