Hereditary Neuropathy_CMT - isolated

Gene: MFN2

Green List (high evidence)

MFN2 (mitofusin 2)
EnsemblGeneIds (GRCh38): ENSG00000116688
EnsemblGeneIds (GRCh37): ENSG00000116688
OMIM: 608507, Gene2Phenotype
MFN2 is in 16 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Bryony Thompson (Royal Melbourne Hospital)

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
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
OMIM
608507
Clinvar variants
Variants in MFN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mfn2 has been classified as Green List (High Evidence).

7 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MFN2 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: 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