Retinal disordersGene: AFG3L2
Comment on mode of inheritance: Should be updated from 'monoallelic' only to 'both mono- and biallelic' at the next GMS review. Two families have been reported (PMID: 32219868) with recessive disease including optic atrophy associated with hearing loss, intellectual disability and ataxia, among others. This was considered sufficient to rate as green under AD/AR inheritance on the Optic neuropathy (R41) panel and therefore this MOI should also be reflected on the Retinal disorders panel.
Created: 19 Apr 2022, 11:32 a.m. | Last Modified: 19 Apr 2022, 11:32 a.m.
Panel Version: 2.257
Over 20 families reported with optic atrophy and missense variants in this gene, p.R468C is recurrent. Bi-allelic variants reported in two families. Please note gene is also associated with SCA. The ADOA variants mostly are located within or close to the ATPase/AAA domain, while those in the proteolytic domain mostly cause dominant spinocerebellar ataxia type 28 (SCA28) or recessive spastic ataxia with epilepsy (SPAX5) (PMIDs: 32219868, 32600459).
Created: 10 Oct 2020, 5:20 a.m. | Last Modified: 10 Oct 2020, 5:20 a.m.
Panel Version: 2.17
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic atrophy 12, MIM# 618977
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
This gene is associated with a relevant phenotype in OMIM, but it is not associated with an eye phenotype in Gene2Phenotype. Based on the available information there is enough evidence to support a gene-disease association. This gene has been tagged with "for-review" and should be promoted to Green at the next review.
Created: 6 Jan 2021, 11:45 a.m. | Last Modified: 6 Jan 2021, 11:45 a.m.
Panel Version: 2.45
Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.
Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5
Phenotypes for gene: AFG3L2 were changed from Optic atrophy 12, OMIM:618977, MONDO:0033549 to Optic atrophy 12, OMIM:618977, MONDO:0033549; Spastic ataxia 5, autosomal recessive, OMIM:614487
Mode of inheritance for gene: AFG3L2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Tag Q2_22_MOI tag was added to gene: AFG3L2.
Tag for-review was removed from gene: AFG3L2.
Source Expert Review Green was added to AFG3L2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: AFG3L2.
Mode of inheritance for gene: AFG3L2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AFG3L2 were set to
Phenotypes for gene: AFG3L2 were changed from to Optic atrophy 12, OMIM:618977, MONDO:0033549
gene: AFG3L2 was added gene: AFG3L2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: AFG3L2 was set to