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  3. KANK1
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Proteinuria

Gene: KANK1

Red List (low evidence)
KANK1 (KN motif and ankyrin repeat domains 1)
EnsemblGeneIds (GRCh38): ENSG00000107104
EnsemblGeneIds (GRCh37): ENSG00000107104
OMIM: 607704, Gene2Phenotype
KANK1 is in 4 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Discussed with Z Stark as part of review - downgraded.
Created: 9 Jan 2020, 3:42 a.m. | Last Modified: 9 Jan 2020, 3:42 a.m.
Panel Version: 0.78
Created: 9 Jan 2020, 3:42 a.m.
Last Modified: 9 Jan 2020, 3:42 a.m.
Panel version: 0.78

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Comment on list classification: Note previously discussed with Chirag Patel, Amber for now.
Created: 20 Dec 2019, 2:30 a.m. | Last Modified: 20 Dec 2019, 2:30 a.m.
Panel Version: 0.31
Single family reported in the literature so far; belongs to family of proteins implicated in nephrotic syndrome.
Sources: Expert list
Created: 20 Dec 2019, 2:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome

Publications

Created: 20 Dec 2019, 2:24 a.m.

Panel version: 0.27

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Nephrotic syndrome
OMIM
607704
Clinvar variants
Variants in KANK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: kank1 has been classified as Red List (Low Evidence).

20 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kank1 has been classified as Amber List (Moderate Evidence).

20 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kank1 has been classified as Amber List (Moderate Evidence).

20 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kank1 has been classified as Red List (Low Evidence).

20 Dec 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: KANK1 was added gene: KANK1 was added to Proteinuria_VCGS_KidGen. Sources: Expert list Mode of inheritance for gene: KANK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KANK1 were set to 25961457 Phenotypes for gene: KANK1 were set to Nephrotic syndrome Review for gene: KANK1 was set to RED