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  3. PLCE1
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Proteinuria

Gene: PLCE1

Green List (high evidence)
PLCE1 (phospholipase C epsilon 1)
EnsemblGeneIds (GRCh38): ENSG00000138193
EnsemblGeneIds (GRCh37): ENSG00000138193
OMIM: 608414, Gene2Phenotype
PLCE1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 50 families reported.
Created: 25 Apr 2022, 5:25 a.m. | Last Modified: 25 Apr 2022, 5:25 a.m.
Panel Version: 0.190

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 3, MIM# 610725

Publications

Created: 25 Apr 2022, 5:25 a.m.
Last Modified: 25 Apr 2022, 5:25 a.m.
Panel version: 0.190

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrotic syndrome, type 3, MIM# 610725
OMIM
608414
Clinvar variants
Variants in PLCE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plce1 has been classified as Green List (High Evidence).

25 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLCE1 were changed from to Nephrotic syndrome, type 3, MIM# 610725

25 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLCE1 were set to

25 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PLCE1 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: PLCE1 was added gene: PLCE1 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PLCE1 was set to Unknown