Hereditary Neuropathy_CMT - isolated
Gene: INF2
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
Gene: inf2 has been classified as Green List (High Evidence).
Publications for gene: INF2 were set to
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