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  2. Renal Macrocystic Disease
  3. DZIP1L
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Renal Macrocystic Disease

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)

7 individuals from 4 unrelated families with bi-allelic variants in this gene.
Sources: Expert list
Created: 20 Nov 2019, 4:51 a.m.

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

Created: 20 Nov 2019, 4:51 a.m.

Panel version: 0.5

Details

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

History Filter Activity

20 Nov 2019, 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).

20 Nov 2019, 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).

20 Nov 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DZIP1L was added gene: DZIP1L was added to Renal cystic disease_KidGen. Sources: Expert list Mode of inheritance for gene: DZIP1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DZIP1L were set to 28530676 Phenotypes for gene: DZIP1L were set to Polycystic kidney disease 5, MIM#617610 Review for gene: DZIP1L was set to GREEN gene: DZIP1L was marked as current diagnostic