Cerebral Palsy
Gene: MFN2EnsemblGeneIds (GRCh38): ENSG00000116688
EnsemblGeneIds (GRCh37): ENSG00000116688
OMIM: 608507, Gene2Phenotype
MFN2 is in 16 panels
3 reviews
Clare van Eyk (University of Adelaide)
1 individual with mono-allelic missense variant classified as LP and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.Created: 27 May 2024, 6:52 a.m. | Last Modified: 27 May 2024, 6:52 a.m.
Panel Version: 1.193
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2A2A MIM#609260; Hereditary motor and sensory neuropathy VIA MIM#601152
Publications
- PMID: 38693247
Luisa Weiss (University of Adelaide)
Three publications with large CP cohort and one patient each harbouring a MFN2 mutation. Note that two of these mutations are inherited paternally. For Charcot-Marie-Tooth disease due to MFN2 mutations, intrafamiliar phenotypic variability is common.Created: 9 Jun 2023, 3:37 a.m. | Last Modified: 9 Jun 2023, 3:37 a.m.
Panel Version: 1.88
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2A2A MIM#609260; Hereditary motor and sensory neuropathy VIA MIM#601152
Publications
Krithika Murali (Victorian Clinical Genetics Services)
Most common cause of axonal Charcot-Marie-Tooth disease (CMT2). Homozygous and compound heterozygous MFN2 mutations have been reported in early-onset CMT2, including patients diagnosed <12 months of age.
x1 het VUS reported in a prematurely born child with unilateral spastic CP (34114234)
x1 paternally inherited pathogenic variant in MFN2 reported in 1 patient in CP cohort (33528536)
Sources: LiteratureCreated: 27 Sep 2021, 7:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2A2A - #609260; Charcot-Marie-Tooth disease, axonal, type 2A2B - #617087; Hereditary motor and sensory neuropathy VIA - 601152
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Charcot-Marie-Tooth disease, axonal, type 2A2A - #609260
- Charcot-Marie-Tooth disease, axonal, type 2A2B - #617087
- Hereditary motor and sensory neuropathy VIA - 601152
- OMIM
- 608507
- Clinvar variants
- Variants in MFN2
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mfn2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mfn2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: MFN2 was added gene: MFN2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MFN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MFN2 were set to 16437557; 21715711; 34114234; 33528536 Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, axonal, type 2A2A - #609260; Charcot-Marie-Tooth disease, axonal, type 2A2B - #617087; Hereditary motor and sensory neuropathy VIA - 601152 Review for gene: MFN2 was set to RED