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  2. Proteinuria
  3. KIRREL1
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Proteinuria

Gene: KIRREL1

Amber List (moderate evidence)
KIRREL1 (kirre like nephrin family adhesion molecule 1)
EnsemblGeneIds (GRCh38): ENSG00000183853
EnsemblGeneIds (GRCh37): ENSG00000183853
OMIM: 607428, Gene2Phenotype
KIRREL1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families reported with bi-allelic variants and limited functional data.
Sources: Literature
Created: 2 Nov 2020, 2:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 23, MIM# 619201

Publications

Created: 2 Nov 2020, 2:36 a.m.

Panel version: 0.155

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Nephrotic syndrome, type 23, MIM# 619201
OMIM
607428
Clinvar variants
Variants in KIRREL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIRREL1 were changed from Steroid-resistant nephrotic syndrome to Nephrotic syndrome, type 23, MIM# 619201

2 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kirrel1 has been classified as Amber List (Moderate Evidence).

2 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kirrel1 has been classified as Amber List (Moderate Evidence).

2 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIRREL1 was added gene: KIRREL1 was added to Proteinuria. Sources: Literature Mode of inheritance for gene: KIRREL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIRREL1 were set to 31472902 Phenotypes for gene: KIRREL1 were set to Steroid-resistant nephrotic syndrome Review for gene: KIRREL1 was set to AMBER