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Intellectual disability syndromic and non-syndromic

Gene: NPHP3

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The spectrum of this ciliopathy includes brain malformations.
Created: 5 Mar 2020, 11:40 p.m. | Last Modified: 5 Mar 2020, 11:40 p.m.
Panel Version: 0.2411

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel syndrome 7, MIM# 267010

Publications

History Filter Activity

11 Apr 2021, 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).

11 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NPHP3 were changed from to Meckel syndrome 7, MIM# 267010

11 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NPHP3 were set to 18371931

11 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NPHP3 were set to

11 Apr 2021, 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

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NPHP3 was set to Unknown