Optic Atrophy
Gene: MIEF1
MIEF1 (mitochondrial elongation factor 1)
EnsemblGeneIds (GRCh38): ENSG00000100335
EnsemblGeneIds (GRCh37): ENSG00000100335
OMIM: 615497, Gene2Phenotype
MIEF1 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000100335
EnsemblGeneIds (GRCh37): ENSG00000100335
OMIM: 615497, Gene2Phenotype
MIEF1 is in 3 panels
2 reviews
Seb Lunke (Victorian Clinical Genetics Services)
Comment on list classification: Two patients but both missense and one with a few too many hets. Functional data not quite strong enough.Created: 2 Nov 2023, 1:43 a.m. | Last Modified: 2 Nov 2023, 1:43 a.m.
Panel Version: 1.23
Lucy Spencer (Victorian Clinical Genetics Services)
PMID: 33632269
Inherited optic neuropathies cohort from france with nothing found in OPA1, OPA3 and WFS1 or mtDNA. 2 individuals (55 and 47yo) found to have missense variant in MIEF1, p.Arg146Trp has 35 hets 0 homs in gnomad, p.Tyr240Asn is absent. Both have non-syndromic late onset inherited optic neuropathies characterized by initial loss of peripheral visual fields.
Functional studies in HeLa cells- both missense localised to the mitochondria and formed oligomers similar to WT. MIEF1 normally regulates mitochondrial fission dynamics and causes an increase in mitochondrial fusion events, however both missense variants caused a significantly decreased mitochondrial fusion events.
Sources: LiteratureCreated: 2 Nov 2023, 1:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Optic atrophy 14 (MIM#620550)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Optic atrophy 14 (MIM#620550)
- OMIM
- 615497
- Clinvar variants
- Variants in MIEF1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
2 Nov 2023, Gel status: 1
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: mief1 has been classified as Red List (Low Evidence).
2 Nov 2023, Gel status: 1
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: mief1 has been classified as Red List (Low Evidence).
2 Nov 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Lucy Spencer (Victorian Clinical Genetics Services)gene: MIEF1 was added gene: MIEF1 was added to Optic Atrophy. Sources: Literature Mode of inheritance for gene: MIEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MIEF1 were set to 33632269 Phenotypes for gene: MIEF1 were set to Optic atrophy 14 (MIM#620550) Review for gene: MIEF1 was set to AMBER