Tubulointerstitial kidney disease
Gene: CEP164

CEP164 (centrosomal protein 164)
EnsemblGeneIds (GRCh38): ENSG00000110274
EnsemblGeneIds (GRCh37): ENSG00000110274
OMIM: 614848, Gene2Phenotype
CEP164 is in 15 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted:CEP164;Suggested initial gene rating: Green;Evidence for inclusion: none provided;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 2 Feb 2019, 12:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronopthisis 15 MIM 614845

Created: 2 Feb 2019, 12:48 a.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Nephronopthisis 15 MIM 614845

OMIM

614848

Clinvar variants

Variants in CEP164

Penetrance

None

Panels with this gene

History Filter Activity

2 Feb 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: CEP164 was added gene: CEP164 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP164 were set to Nephronopthisis 15 MIM 614845

Tubulointerstitial kidney disease Gene: CEP164