Unexplained kidney failure in young people
Gene: INF2

INF2 (inverted formin, FH2 and WH2 domain containing)
EnsemblGeneIds (GRCh38): ENSG00000203485
EnsemblGeneIds (GRCh37): ENSG00000203485
OMIM: 610982, Gene2Phenotype
INF2 is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P. At least five variants reported in Glomerulosclerosis, focal segmental, 5 613237 and six in Charcot-Marie-Tooth disease, dominant intermediate E 614455
Created: 4 Aug 2016, 1:47 p.m.

Created: 17 Jun 2016, 8:39 a.m.

Panel version: 0.14

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
UKGTN
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Eligibility statement prior genetic testing

Phenotypes

Charcot-Marie-Tooth disease, dominant intermediate E 614455
Glomerulosclerosis, focal segmental, 5 613237

OMIM

610982

Clinvar variants

Variants in INF2

Penetrance

Complete

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: INF2 were changed from Charcot-Marie-Tooth disease, dominant intermediate E 614455; Glomerulosclerosis, focal segmental, 5 613237 to Charcot-Marie-Tooth disease, dominant intermediate E 614455; Glomerulosclerosis, focal segmental, 5 613237

30 Jan 2019, Gel status: 3