Hereditary Neuropathy_CMT - isolated
Gene: MFN2
Well established gene-disease associations.Created: 7 May 2021, 1:09 a.m. | Last Modified: 7 May 2021, 1:09 a.m.
Panel Version: 0.121
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2A2A 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087; Hereditary motor and sensory neuropathy VIA, MIM# 601152
Publications
Comment on phenotypes: Established cause of hereditary neuropathy.
PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 9 de novo variants (8 missense, 1 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).Created: 2 Nov 2020, 11:47 p.m. | Last Modified: 2 Nov 2020, 11:47 p.m.
Panel Version: 0.5284
Gene: mfn2 has been classified as Green List (High Evidence).
Phenotypes for gene: MFN2 were changed from Hereditary motor and sensory neuropathy VI, 601152; Charcot Marie Tooth disease, type 2A2, 609260; HMSN to Charcot-Marie-Tooth disease, axonal, type 2A2A 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087; Hereditary motor and sensory neuropathy VIA, MIM# 601152
Publications for gene: MFN2 were set to
gene: MFN2 was added gene: MFN2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MFN2 were set to Hereditary motor and sensory neuropathy VI, 601152; Charcot Marie Tooth disease, type 2A2, 609260; HMSN