Polymicrogyria and Schizencephaly
Gene: MFN2
MFN2 (mitofusin 2)
EnsemblGeneIds (GRCh38): ENSG00000116688
EnsemblGeneIds (GRCh37): ENSG00000116688
OMIM: 608507, Gene2Phenotype
MFN2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000116688
EnsemblGeneIds (GRCh37): ENSG00000116688
OMIM: 608507, Gene2Phenotype
MFN2 is in 16 panels
1 review
Andrew Fennell (Monash Genetics)
A single report of fetus with severe antenatal encephalopathy with lissencephaly, polymicrogyria, and cerebellar atrophy. The authors identified a homozygous in-frame deletion leading to exon 16 skipping and in-frame loss of 50 amino acids 13 (p.Gln574_Val624del). Functional evidence of mitochondrial dysfunction (clumping) and respiratory chain complex deficiencies.
Sources: LiteratureCreated: 2 Nov 2023, 1:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial disease, MONDO:0044970, MFN2-related
Publications
- PMID: 37804319
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Mitochondrial disease, MONDO:0044970, MFN2-related
- OMIM
- 608507
- Clinvar variants
- Variants in MFN2
- Penetrance
- None
- Publications
-
- PMID: 37804319
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Optic Atrophy
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Fetal anomalies
- Additional findings_Paediatric
- Lissencephaly and Band Heterotopia
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Polymicrogyria and Schizencephaly
- Cerebral Palsy
- Cerebellar and Pontocerebellar Hypoplasia
History Filter Activity
2 Nov 2023, Gel status: 2
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: mfn2 has been classified as Amber List (Moderate Evidence).
2 Nov 2023, Gel status: 0
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: mfn2 has been removed from the panel.
2 Nov 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Andrew Fennell (Monash Genetics)gene: MFN2 was added gene: MFN2 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFN2 were set to PMID: 37804319 Phenotypes for gene: MFN2 were set to Mitochondrial disease, MONDO:0044970, MFN2-related Review for gene: MFN2 was set to AMBER