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Skeletal dysplasia

Gene: NPHP4

Red List (low evidence)

NPHP4 (nephrocystin 4)
EnsemblGeneIds (GRCh38): ENSG00000131697
EnsemblGeneIds (GRCh37): ENSG00000131697
OMIM: 607215, Gene2Phenotype
NPHP4 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported.
Created: 5 Jul 2021, 10:58 a.m. | Last Modified: 5 Jul 2021, 10:58 a.m.
Panel Version: 0.8206

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 4, MIM# 606966; Senior-Loken syndrome 4, MIM# 606996

Publications

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NPHP4 was added gene: NPHP4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: NPHP4 was set to