Proteinuria
Gene: INF2

INF2 (inverted formin, FH2 and WH2 domain containing)
EnsemblGeneIds (GRCh38): ENSG00000203485
EnsemblGeneIds (GRCh37): ENSG00000203485
OMIM: 610982, Gene2Phenotype
INF2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal dominant intermediate Charcot-Marie-Tooth disease E with focal segmental glomerulonephritis is characterized by the neurologic features of CMT, including distal muscle weakness and atrophy and distal sensory loss, and the features of FSGS, including proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy. Nine variants reported in 12 individuals in the initial publication PMID 22187985. All were located in exons 2 and 3, which encode the diaphanous inhibitory domain (DID), and most of them were between nucleotides 300 and 500 in the second and third armadillo repeats. These variants were located in distinct areas from those associated with isolated FSGS5

Isolated FSGS: more than 10 unrelated families reported.
Created: 4 May 2021, 9:50 a.m. | Last Modified: 4 May 2021, 9:50 a.m.

Panel Version: 0.162

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455; Glomerulosclerosis, focal segmental, 5, MIM# 613237

Publications

Created: 4 May 2021, 9:50 a.m.
Last Modified: 4 May 2021, 9:50 a.m.
Panel version: 0.162

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

610982

Clinvar variants

Variants in INF2

Penetrance

None

Publications

Panels with this gene