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Fetal anomalies

Gene: DZIP1L

Amber List (moderate evidence)

DZIP1L (DAZ interacting zinc finger protein 1 like)
EnsemblGeneIds (GRCh38): ENSG00000158163
EnsemblGeneIds (GRCh37): ENSG00000158163
OMIM: 617570, Gene2Phenotype
DZIP1L is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Onset in early childhood. Unclear at this stage when the renal cysts become apparent.
Created: 5 Jan 2022, 7:33 a.m. | Last Modified: 5 Jan 2022, 7:33 a.m.
Panel Version: 0.1864

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polycystic kidney disease 5, MIM#617610

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

PKD5, a form of autosomal recessive polycystic kidney disease (ARPKD), is characterised by early childhood onset of progressive renal dysfunction associated with enlarged hyperechogenic kidneys that often results in end-stage renal disease in the second or third decade of life. Arterial hypertension is apparent in early childhood

7 individuals from 4 unrelated families with bi-allelic variants in this gene.
Created: 5 Jan 2022, 7:12 a.m. | Last Modified: 5 Jan 2022, 7:12 a.m.
Panel Version: 0.1858

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polycystic kidney disease 5, MIM#617610

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Polycystic kidney disease 5, 617610
OMIM
617570
Clinvar variants
Variants in DZIP1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dzip1l has been classified as Amber List (Moderate Evidence).

5 Jan 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DZIP1L were set to

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DZIP1L was added gene: DZIP1L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DZIP1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DZIP1L were set to Polycystic kidney disease 5, 617610