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| Retinal disorders v3.26 | AFG3L2 | Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: AFG3L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v3.26 | AFG3L2 | Achchuthan Shanmugasundram commented on gene: AFG3L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v3.25 | AFG3L2 | Achchuthan Shanmugasundram Mode of inheritance for gene AFG3L2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.258 | AFG3L2 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.257 | AFG3L2 | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.257 | AFG3L2 | Arina Puzriakova Mode of inheritance for gene: AFG3L2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.256 | AFG3L2 | Arina Puzriakova Tag Q2_22_MOI tag was added to gene: AFG3L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | AFG3L2 | Ivone Leong Tag for-review was removed from gene: AFG3L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | AFG3L2 | Ivone Leong commented on gene: AFG3L2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | AFG3L2 |
Ivone Leong Source Expert Review Green was added to AFG3L2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v2.45 | AFG3L2 | Ivone Leong commented on gene: AFG3L2: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.45 | AFG3L2 | Ivone Leong Tag for-review tag was added to gene: AFG3L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.45 | AFG3L2 | Ivone Leong Mode of inheritance for gene: AFG3L2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.44 | AFG3L2 | Ivone Leong Publications for gene: AFG3L2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.43 | AFG3L2 | Ivone Leong Phenotypes for gene: AFG3L2 were changed from to Optic atrophy 12, OMIM:618977, MONDO:0033549 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.17 | AFG3L2 | Zornitza Stark reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29181157, 26539208, 30252181, 30389403, 32219868, 32600459, 32548275; Phenotypes: Optic atrophy 12, MIM# 618977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | AFG3L2 | Ivone Leong reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.3 | AFG3L2 |
Ivone Leong 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 |
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