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Optic neuropathy

Gene: MIEF1

Green List (high evidence)
MIEF1 (mitochondrial elongation factor 1)
EnsemblGeneIds (GRCh38): ENSG00000100335
EnsemblGeneIds (GRCh37): ENSG00000100335
OMIM: 615497, Gene2Phenotype
MIEF1 is in 1 panel

3 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 11 Dec 2025, 4:54 p.m. | Last Modified: 11 Dec 2025, 4:54 p.m.
Panel Version: 5.28
Created: 11 Dec 2025, 4:54 p.m.
Last Modified: 11 Dec 2025, 4:54 p.m.
Panel version: 5.28

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Two MIEF1 variants have been associated with Optic atrophy 14 (OMIM:620550) in two unrelated cases of OMIM:620550 (PMID: 33632269). Separate functional studies in live cells, showed that both of the variants (NM_019008.6(MIEF1):c.718T>A (p.Tyr240Asn) and NM_019008.6(MIEF1):c.436C>T (p.Arg146Trp)), significantly decreased mitochondrial fusion events and disrupted mitochondrial network dynamics compared to wildtype MIEF1 (PMID: 33632269).
Created: 11 Nov 2024, 4:03 p.m. | Last Modified: 11 Nov 2024, 4:03 p.m.
Panel Version: 4.38

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 11 Nov 2024, 4:03 p.m.
Last Modified: 11 Nov 2024, 4:03 p.m.
Panel version: 4.38

Hannah Knight (NIHR BioResource - University of Cambridge)

I don't know

PMID: 33632269 (2021) reported two unrelated women with late-onset optic neuropathy, with heterozygous missense mutations in the MIEF1 gene (Y240N and R146W)
Sources: Literature
Created: 18 Oct 2024, 9:51 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Optic atrophy 14

Publications

Created: 18 Oct 2024, 9:51 a.m.

Panel version: 4.33

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Optic atrophy 14, OMIM:620550
  • optic atrophy 14, MONDO:0957824
OMIM
615497
Clinvar variants
Variants in MIEF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2025, Gel status: 3

Removed Tag, Removed Tag

Ida Ertmanska (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: MIEF1. Tag Q3_24_NHS_review was removed from gene: MIEF1.

11 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Ida Ertmanska (Genomics England Curator)

Source Expert Review Green was added to MIEF1. Source NHS GMS was added to MIEF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

11 Nov 2024, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: MIEF1. Tag Q3_24_NHS_review tag was added to gene: MIEF1.

11 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: mief1 has been classified as Amber List (Moderate Evidence).

11 Nov 2024, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MIEF1 were changed from Optic atrophy 14 to Optic atrophy 14, OMIM:620550; optic atrophy 14, MONDO:0957824

11 Nov 2024, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MIEF1 were set to PMID: 33632269

18 Oct 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Hannah Knight (NIHR BioResource - University of Cambridge)

gene: MIEF1 was added gene: MIEF1 was added to Optic neuropathy. Sources: Literature Mode of inheritance for gene: MIEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MIEF1 were set to PMID: 33632269 Phenotypes for gene: MIEF1 were set to Optic atrophy 14 Review for gene: MIEF1 was set to AMBER