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Mendeliome

Gene: DZIP1L

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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, 7:35 a.m. | Last Modified: 5 Jan 2022, 7:35 a.m.
Panel Version: 0.10514

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polycystic kidney disease 5, MIM#617610

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polycystic kidney disease 5, MIM#617610
OMIM
617570
Clinvar variants
Variants in DZIP1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dzip1l has been classified as Green List (High Evidence).

5 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DZIP1L were changed from to Polycystic kidney disease 5, MIM#617610

5 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DZIP1L were set to

5 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DZIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DZIP1L was added gene: DZIP1L was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DZIP1L was set to Unknown