Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Gene: NPHP3

Green List (high evidence)

NPHP3 (nephrocystin 3)
EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 17 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

This distinct NPHP3-related phenotype includes renal dysplasia and cysts.
Created: 16 Jan 2020, 4:22 a.m. | Last Modified: 16 Jan 2020, 4:22 a.m.
Panel Version: 0.29

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal-hepatic-pancreatic dysplasia 1, MIM# 208540

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

not a CAKUT gene
Created: 27 Nov 2019, 11:32 p.m. | Last Modified: 27 Nov 2019, 11:32 p.m.
Panel Version: 0.0

History Filter Activity

16 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NPHP3 were changed from to Renal-hepatic-pancreatic dysplasia 1, MIM# 208540

16 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NPHP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

16 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NPHP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

16 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

16 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nphp3 has been classified as Green List (High Evidence).

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nphp3 has been classified as Red List (Low Evidence).

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nphp3 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NPHP3 was added gene: NPHP3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NPHP3 was set to Unknown