Tubulointerstitial kidney disease
Gene: ANKS6

ANKS6 (ankyrin repeat and sterile alpha motif domain containing 6)
EnsemblGeneIds (GRCh38): ENSG00000165138
EnsemblGeneIds (GRCh37): ENSG00000165138
OMIM: 615370, Gene2Phenotype
ANKS6 is in 8 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:ANKS6;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 16 MIM 615382

Publications

Hoff et al Nature Genet. 45: 951-956, 2013. PubMed: 2379302

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 16 MIM 615382

OMIM

615370

Clinvar variants

Variants in ANKS6

Penetrance

None

Publications

2379302

Panels with this gene

History Filter Activity

2 Feb 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: ANKS6 was added gene: ANKS6 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANKS6 were set to 2379302 Phenotypes for gene: ANKS6 were set to Nephronopthisis 16 MIM 615382

Tubulointerstitial kidney disease Gene: ANKS6