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Intellectual disability

Gene: OPA1

Amber List (moderate evidence)
OPA1 (OPA1, mitochondrial dynamin like GTPase)
EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 17 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on publications: PMID: 39233737 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques
Created: 19 Feb 2025, 2:50 p.m. | Last Modified: 19 Feb 2025, 2:50 p.m.
Panel Version: 8.90
Heterozygous OPA1 variants have been associated with Optic atrophy 1 (OMIM:165500) and Optic atrophy plus syndrome, OMIM: 125250. PMID: 39233737 reports two unrelated cases of OMIM: 125250 with a "prominent neurological phenotype highly resembling clinical and
neuroradiological features of Leigh-like syndrome", including hypotonia and psychomotor delay. Each child had a de novo novel heterozygous OPA1 variant (NM_ 015560.3, c.888T>A, p.Asp296Glu and c.802T>C, p.Tyr268His). The mitochondria in the fibroblasts from these cases appeared to be fragmented with a reduced ATP production compared to controls; additionally, the amount of mtDNA was reduced by about a half in comparison with controls. Complementary studies in yeast suggested that these variants are pathogenic with a possible dominant negative effect (PMID: 39233737).
Sources: Literature
Created: 19 Feb 2025, 2:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Optic atrophy plus syndrome, OMIM: 125250

Publications

Created: 19 Feb 2025, 2:22 p.m.

Panel version: 8.88

History Filter Activity

19 Feb 2025, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: OPA1 were set to 39233737

19 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: opa1 has been classified as Amber List (Moderate Evidence).

19 Feb 2025, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: OPA1 was added gene: OPA1 was added to Intellectual disability. Sources: Literature Q1_25_ promote_green tags were added to gene: OPA1. Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: OPA1 were set to 39233737 Phenotypes for gene: OPA1 were set to Optic atrophy plus syndrome, OMIM: 125250 Review for gene: OPA1 was set to GREEN