Hereditary Neuropathy_CMT - isolated
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.
Created: 4 May 2021, 9:45 a.m. | Last Modified: 4 May 2021, 9:46 a.m.

Panel Version: 0.112

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455

Publications

Created: 4 May 2021, 9:45 a.m.
Last Modified: 4 May 2021, 9:46 a.m.
Panel version: 0.112

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Charcot Marie Tooth disease, dominant intermediate E, 614455
HMSN

OMIM

610982

Clinvar variants

Variants in INF2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

4 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: inf2 has been classified as Green List (High Evidence).

4 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: INF2 were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: INF2 was added gene: INF2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: INF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: INF2 were set to Charcot Marie Tooth disease, dominant intermediate E, 614455; HMSN

Hereditary Neuropathy_CMT - isolated Gene: INF2