Genes in panel

Ataxia and cerebellar anomalies - narrow panel

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene for Optic atrophy plus syndrome OMIM:125250 and a probable gene for Behr syndrome OMIM:210000. At least biallelic 11 variants reported in at least 10 unrelated cases (summarized in PMID 28494813, additional file 7).
Created: 28 Apr 2021, 11:01 a.m. | Last Modified: 28 Apr 2021, 11:01 a.m.
Panel Version: 2.149
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 28 Apr 2021, 10:48 a.m. | Last Modified: 28 Apr 2021, 10:48 a.m.
Panel Version: 2.149

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. See PMID 28494813 for three unrelated children where ataxia was a prominent part of the phenotype.
Sources: Expert list
Created: 12 Sep 2020, 6:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Optic atrophy plus syndrome, MIM# 125250

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

28 Apr 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: OPA1.

28 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

28 Apr 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: OPA1 were changed from Optic atrophy plus syndrome, MIM# 125250 to Optic atrophy plus syndrome OMIM:125250; optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429; Behr syndrome OMIM:210000; Behr syndrome MONDO:0008858

28 Apr 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: OPA1 were set to 28494813; 27150940; 24970096; 11017079; 11017080; 17722006; 25012220

28 Apr 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: OPA1 were set to 28494813

28 Apr 2021, Gel status: 0

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: OPA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

27 Apr 2021, Gel status: 0

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: OPA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

12 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: OPA1 was added gene: OPA1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OPA1 were set to 28494813 Phenotypes for gene: OPA1 were set to Optic atrophy plus syndrome, MIM# 125250 Review for gene: OPA1 was set to GREEN