Hereditary Neuropathy_CMT - isolated
Gene: GNB4
CMTDIF is an autosomal dominant neurologic disorder characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range.
Four unrelated families reported.Created: 4 May 2021, 4:44 a.m. | Last Modified: 4 May 2021, 4:44 a.m.
Panel Version: 0.95
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185; MONDO:0014074
Publications
Gene: gnb4 has been classified as Green List (High Evidence).
Phenotypes for gene: GNB4 were changed from Charcot Marie Tooth disease, dominant intermediate F, 615185; HMSN to Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185; MONDO:0014074; HMSN
Publications for gene: GNB4 were set to
gene: GNB4 was added gene: GNB4 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GNB4 were set to Charcot Marie Tooth disease, dominant intermediate F, 615185; HMSN