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| Optic neuropathy v5.44 | SPG7 | Ida Ertmanska changed review comment from: Comment on list classification: There is limited evidence that monoallelic SPG7 variants can cause dominant optic atrophy. The majority of patients reported in literature harbour biallelic SPG7 mutations, with heterozygous carriers being unaffected. Biallelic mutations are known to cause Spastic paraplegia 7, with optic atrophy as a common feature. The evidence for dominant inheritance is controversial (e.g, PMID: 31854126 deep intronic SPG7 variant detectable only by WGS; possible digenic inheritance with variants in other spasticity-related genes / SPG7-interacting genes - emerging evidence for AFG3L2 in particular - PMID: 23065789, 33598982, 33774748; recurring variants are too common in the population to be associated with dominant disease). Based on the available evidence, MOI should be changed to BIALLELIC, autosomal or pseudoautosomal at the next GMS update.; to: Comment on list classification: There is limited evidence that monoallelic SPG7 variants can cause dominant optic atrophy. The majority of patients reported in literature harbour biallelic SPG7 mutations, with heterozygous carriers being unaffected. Biallelic mutations are known to cause Spastic paraplegia 7, with optic atrophy as a common feature. The evidence for dominant inheritance is controversial (e.g, PMID: 31854126 deep intronic SPG7 variant detectable only by WGS; possible digenic inheritance with variants in other spasticity-related genes / SPG7-interacting genes - emerging evidence for AFG3L2 in particular - PMID: 23065789, 33598982, 33774748; recurring variants are too common in the population to be associated with dominant disease). Based on the available evidence, MOI should be changed to BIALLELIC, autosomal or pseudoautosomal at the next GMS update. Expert review will be requested regarding the monoallelic cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.38 | SPG7 |
Ida Ertmanska changed review comment from: PMID: 37983191 Bell et al., 2024 5 cases with heterozygous SPG7 variants and progressive vision loss, several also had previous diagnoses of peripheral neuropathy (e.g., Guillain-Barré Syndrome). Seq method: WES (1 case) or optic atrophy panel (4 cases). Variants identified: p.Ala759Thr, p.Gln447Ter, p.Ala510Val (3 cases). Age of onset range: 8-48 yrs old. PMID: 33841295 Charif et al., 2021 Identified 6 individuals with heterozygous SPG7 variants and 5 families with biallelic SPG7 variants. Heterozygous cases presented with isolated optic atrophy, while individuals with biallelic SPG7 variants had a syndromic presentation with optic atrophy as a feature. Seq method: isolated optic neuropathy panel. PMID: 32548275 Charif et al., 2020 7 families with isolated optic atrophy, with heterozygous SPG7 variants. Only 1 family with evidence of segregation with disease, unaffected family members not genotyped. Seq method: targeted optic atrophy panel - exonic sequences of 22 genes, including SPG7 and AFG3L2. PMID: 24466038 Wedding et al., 2014 Report of 4 patients from 2 Norwegian families with biallelic variants in SPG7. Individuals presented with a combination of progressive external ophthalmoplegia and spastic paraplegia. Family A (consanguineous) - 2 affected siblings, homozygous for SPG7 c.2102A>C, p.H 701P - heterozygous in unaffected subjects. Family B (no consanguinity) - compound het for c.2102A>C, p.H 701P and c.1454_1462del Immunohistochemical studies in skeletal muscle showed mosaic deficiency predominantly affecting respiratory complex I, but also complexes III and IV. PMID: 24727571 Pfeffer et al., 2014: Cohort of patients with Progressive external ophthalmoplegia (PEO), discovered 9 patients with compound heterozygous and 6 with heterozygous variants in SPG7. Of the 6 heterozygotes, 4/6 had PEO, 4/6 had ataxia and/or spasticity, 1/6 noted to have cerebellar atrophy. 3/6 patients were heterozygous for p.Ala510Val, with variable severity and age of onset (4-60 years old). Method: WES. PMID: 23065789 Klebe et al., 2012 Screened 135 unrelated index cases. Seq method: AFG3L2 and SPG7 sequencing only. p.Ala510Val was the most commonly detected SPG7 mutation (65%). Mostly biallelic HSP cases. All individuals with SPG7 were noted to have features of optic atrophy. Novel missense SPG7 mutation at the heterozygous state (SPG7:c.1232A>C, p.Asp411Ala) was identified as the cause of isolated autosomal dominant optic neuropathy in a large pedigree - variant not reported in gnomAD v4.1.0, absent in unaffected family members. SPG7 is associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (accessed 8th Jan 2026). Entry for Spastic paraplegia 7 in GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1107/) mentions that the possibility of autosomal dominant inheritance remains controversial. SPG7 link to SPG7-related spastic paraplegia (biallelic_autosomal) is classified as definitive on the Gene2Phenotype Eye disorders panel.; to: PMID: 37983191 Bell et al., 2024 5 cases with heterozygous SPG7 variants and progressive vision loss, several also had previous diagnoses of peripheral neuropathy (e.g., Guillain-Barré Syndrome). Seq method: WES (1 case) or optic atrophy panel (4 cases). Variants identified: p.Ala759Thr, p.Gln447Ter, p.Ala510Val (3 cases). Age of onset range: 8-48 yrs old. SPG7: c.1529C>T, p.Ala510Val has MAF = 0.007265 in gnomAD v4.1.0 (European population), with 44 total homozygotes reported; SPG7: c.2275G>A, p.Ala759Thr has MAF = 0.0009866 in gnomAD v4 (European), no homozygotes reported. SPG7 c.1339C>T, p.Gln447Ter has 1 allele recorded in gnomAD v4. PMID: 33841295 Charif et al., 2021 Identified 6 individuals with heterozygous SPG7 variants and 5 families with biallelic SPG7 variants. Heterozygous cases presented with isolated optic atrophy, while individuals with biallelic SPG7 variants had a syndromic presentation with optic atrophy as a feature. Seq method: isolated optic neuropathy panel. PMID: 32548275 Charif et al., 2020 7 families with isolated optic atrophy, with heterozygous SPG7 variants. Only 1 family with evidence of segregation with disease, unaffected family members not genotyped. Seq method: targeted optic atrophy panel - exonic sequences of 22 genes, including SPG7 and AFG3L2. PMID: 24466038 Wedding et al., 2014 Report of 4 patients from 2 Norwegian families with biallelic variants in SPG7. Individuals presented with a combination of progressive external ophthalmoplegia and spastic paraplegia. Family A (consanguineous) - 2 affected siblings, homozygous for SPG7 c.2102A>C, p.H 701P - heterozygous in unaffected subjects. Family B (no consanguinity) - compound het for c.2102A>C, p.H 701P and c.1454_1462del Immunohistochemical studies in skeletal muscle showed mosaic deficiency predominantly affecting respiratory complex I, but also complexes III and IV. PMID: 24727571 Pfeffer et al., 2014: Cohort of patients with Progressive external ophthalmoplegia (PEO), discovered 9 patients with compound heterozygous and 6 with heterozygous variants in SPG7. Of the 6 heterozygotes, 4/6 had PEO, 4/6 had ataxia and/or spasticity, 1/6 noted to have cerebellar atrophy. 3/6 patients were heterozygous for p.Ala510Val, with variable severity and age of onset (4-60 years old). Method: WES. PMID: 23065789 Klebe et al., 2012 Screened 135 unrelated index cases. Seq method: AFG3L2 and SPG7 sequencing only. p.Ala510Val was the most commonly detected SPG7 mutation (65%). Mostly biallelic HSP cases. All individuals with SPG7 were noted to have features of optic atrophy. Novel missense SPG7 mutation at the heterozygous state (SPG7:c.1232A>C, p.Asp411Ala) was identified as the cause of isolated autosomal dominant optic neuropathy in a large pedigree - variant not reported in gnomAD v4.1.0, absent in unaffected family members. SPG7 is associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (accessed 8th Jan 2026). Entry for Spastic paraplegia 7 in GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1107/) mentions that the possibility of autosomal dominant inheritance remains controversial. SPG7 link to SPG7-related spastic paraplegia (biallelic_autosomal) is classified as definitive on the Gene2Phenotype Eye disorders panel. |
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| Optic neuropathy v5.38 | SPG7 | Ida Ertmanska changed review comment from: Comment on list classification: There is limited evidence that monoallelic SPG7 variants can cause dominant optic atrophy. The majority of patients reported in literature harbour biallelic SPG7 mutations, with heterozygous carriers being unaffected. Biallelic mutations are known to cause Spastic paraplegia 7, with optic atrophy as a common feature. The evidence for dominant inheritance is controversial (e.g, PMID: 31854126 deep intronic SPG7 variant detectable only by WGS; possible digenic inheritance with variants in other spasticity-related genes / SPG7-interacting genes - emerging evidence for AFG3L2 in particular - PMID: 23065789, 33598982, 33774748). Based on the available evidence, MOI should be changed to BIALLELIC, autosomal or pseudoautosomal at the next GMS update.; to: Comment on list classification: There is limited evidence that monoallelic SPG7 variants can cause dominant optic atrophy. The majority of patients reported in literature harbour biallelic SPG7 mutations, with heterozygous carriers being unaffected. Biallelic mutations are known to cause Spastic paraplegia 7, with optic atrophy as a common feature. The evidence for dominant inheritance is controversial (e.g, PMID: 31854126 deep intronic SPG7 variant detectable only by WGS; possible digenic inheritance with variants in other spasticity-related genes / SPG7-interacting genes - emerging evidence for AFG3L2 in particular - PMID: 23065789, 33598982, 33774748; recurring variants are too common in the population to be associated with dominant disease). Based on the available evidence, MOI should be changed to BIALLELIC, autosomal or pseudoautosomal at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.38 | SPG7 |
Ida Ertmanska changed review comment from: PMID: 33841295 Charif et al., 2021 Identified 6 individuals with heterozygous SPG7 variants and 5 families with biallelic SPG7 variants. Heterozygous cases presented with isolated optic atrophy, while individuals with biallelic SPG7 variants had a syndromic presentation with optic atrophy as a feature. Seq method: isolated optic neuropathy panel. PMID: 32548275 Charif et al., 2020 7 families with isolated optic atrophy, with heterozygous SPG7 variants. Only 1 family with evidence of segregation with disease, unaffected family members not genotyped. Seq method: targeted optic atrophy panel - exonic sequences of 22 genes, including SPG7 and AFG3L2. PMID: 24466038 Wedding et al., 2014 Report of 4 patients from 2 Norwegian families with biallelic variants in SPG7. Individuals presented with a combination of progressive external ophthalmoplegia and spastic paraplegia. Family A (consanguineous) - 2 affected siblings, homozygous for SPG7 c.2102A>C, p.H 701P - heterozygous in unaffected subjects. Family B (no consanguinity) - compound het for c.2102A>C, p.H 701P and c.1454_1462del Immunohistochemical studies in skeletal muscle showed mosaic deficiency predominantly affecting respiratory complex I, but also complexes III and IV. PMID: 24727571 Pfeffer et al., 2014: Cohort of patients with Progressive external ophthalmoplegia (PEO), discovered 9 patients with compound heterozygous and 6 with heterozygous variants in SPG7. Of the 6 heterozygotes, 4/6 had PEO, 4/6 had ataxia and/or spasticity, 1/6 noted to have cerebellar atrophy. 3/6 patients were heterozygous for p.Ala510Val, with variable severity and age of onset (4-60 years old). Method: WES. PMID: 23065789 Klebe et al., 2012 Screened 135 unrelated index cases. Seq method: AFG3L2 and SPG7 sequencing only. p.Ala510Val was the most commonly detected SPG7 mutation (65%). Mostly biallelic HSP cases. All individuals with SPG7 were noted to have features of optic atrophy. Novel missense SPG7 mutation at the heterozygous state (SPG7:c.1232A>C, p.Asp411Ala) was identified as the cause of isolated autosomal dominant optic neuropathy in a large pedigree - variant not reported in gnomAD v4.1.0, absent in unaffected family members. SPG7 is associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (accessed 8th Jan 2026). Entry for Spastic paraplegia 7 in GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1107/) mentions that the possibility of autosomal dominant inheritance remains controversial. SPG7 link to SPG7-related spastic paraplegia (biallelic_autosomal) is classified as definitive on the Gene2Phenotype Eye disorders panel.; to: PMID: 37983191 Bell et al., 2024 5 cases with heterozygous SPG7 variants and progressive vision loss, several also had previous diagnoses of peripheral neuropathy (e.g., Guillain-Barré Syndrome). Seq method: WES (1 case) or optic atrophy panel (4 cases). Variants identified: p.Ala759Thr, p.Gln447Ter, p.Ala510Val (3 cases). Age of onset range: 8-48 yrs old. PMID: 33841295 Charif et al., 2021 Identified 6 individuals with heterozygous SPG7 variants and 5 families with biallelic SPG7 variants. Heterozygous cases presented with isolated optic atrophy, while individuals with biallelic SPG7 variants had a syndromic presentation with optic atrophy as a feature. Seq method: isolated optic neuropathy panel. PMID: 32548275 Charif et al., 2020 7 families with isolated optic atrophy, with heterozygous SPG7 variants. Only 1 family with evidence of segregation with disease, unaffected family members not genotyped. Seq method: targeted optic atrophy panel - exonic sequences of 22 genes, including SPG7 and AFG3L2. PMID: 24466038 Wedding et al., 2014 Report of 4 patients from 2 Norwegian families with biallelic variants in SPG7. Individuals presented with a combination of progressive external ophthalmoplegia and spastic paraplegia. Family A (consanguineous) - 2 affected siblings, homozygous for SPG7 c.2102A>C, p.H 701P - heterozygous in unaffected subjects. Family B (no consanguinity) - compound het for c.2102A>C, p.H 701P and c.1454_1462del Immunohistochemical studies in skeletal muscle showed mosaic deficiency predominantly affecting respiratory complex I, but also complexes III and IV. PMID: 24727571 Pfeffer et al., 2014: Cohort of patients with Progressive external ophthalmoplegia (PEO), discovered 9 patients with compound heterozygous and 6 with heterozygous variants in SPG7. Of the 6 heterozygotes, 4/6 had PEO, 4/6 had ataxia and/or spasticity, 1/6 noted to have cerebellar atrophy. 3/6 patients were heterozygous for p.Ala510Val, with variable severity and age of onset (4-60 years old). Method: WES. PMID: 23065789 Klebe et al., 2012 Screened 135 unrelated index cases. Seq method: AFG3L2 and SPG7 sequencing only. p.Ala510Val was the most commonly detected SPG7 mutation (65%). Mostly biallelic HSP cases. All individuals with SPG7 were noted to have features of optic atrophy. Novel missense SPG7 mutation at the heterozygous state (SPG7:c.1232A>C, p.Asp411Ala) was identified as the cause of isolated autosomal dominant optic neuropathy in a large pedigree - variant not reported in gnomAD v4.1.0, absent in unaffected family members. SPG7 is associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (accessed 8th Jan 2026). Entry for Spastic paraplegia 7 in GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1107/) mentions that the possibility of autosomal dominant inheritance remains controversial. SPG7 link to SPG7-related spastic paraplegia (biallelic_autosomal) is classified as definitive on the Gene2Phenotype Eye disorders panel. |
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| Optic neuropathy v5.38 | SPG7 | Ida Ertmanska changed review comment from: Comment on list classification: There is limited evidence that monoallelic SPG7 variants can cause dominant optic atrophy. The majority of patients reported in literature harbour biallelic SPG7 mutations, with heterozygous carriers being unaffected. Biallelic mutations are known to cause Spastic paraplegia 7, with optic atrophy as a common feature. The evidence for dominant inheritance is controversial (e.g, PMID: 31854126 deep intronic SPG7 variant detectable only by WGS; possible digenic inheritance with variants in other spasticity-related genes / SPG7-interacting genes - emerging evidence for AFG3L2 in particular - PMID: 23065789, 33598982, 33774748). Based on the available evidence, MOI should be changed to BIALLELIC, autosomal or pseudoautosomal at the next GMS update.; to: Comment on list classification: There is limited evidence that monoallelic SPG7 variants can cause dominant optic atrophy. The majority of patients reported in literature harbour biallelic SPG7 mutations, with heterozygous carriers being unaffected. Biallelic mutations are known to cause Spastic paraplegia 7, with optic atrophy as a common feature. The evidence for dominant inheritance is controversial (e.g, PMID: 31854126 deep intronic SPG7 variant detectable only by WGS; possible digenic inheritance with variants in other spasticity-related genes / SPG7-interacting genes - emerging evidence for AFG3L2 in particular - PMID: 23065789, 33598982, 33774748). Based on the available evidence, MOI should be changed to BIALLELIC, autosomal or pseudoautosomal at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.38 | SPG7 | Ida Ertmanska edited their review of gene: SPG7: Added comment: Comment on list classification: There is limited evidence that monoallelic SPG7 variants can cause dominant optic atrophy. The majority of patients reported in literature harbour biallelic SPG7 mutations, with heterozygous carriers being unaffected. Biallelic mutations are known to cause Spastic paraplegia 7, with optic atrophy as a common feature. The evidence for dominant inheritance is controversial (e.g, PMID: 31854126 deep intronic SPG7 variant detectable only by WGS; possible digenic inheritance with variants in other spasticity-related genes / SPG7-interacting genes - emerging evidence for AFG3L2 in particular - PMID: 23065789, 33598982, 33774748). Based on the available evidence, MOI should be changed to BIALLELIC, autosomal or pseudoautosomal at the next GMS update.; Changed rating: GREEN; Changed publications to: 23065789, 24466038, 24727571, 32548275, 33841295; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.38 | SPG7 |
Ida Ertmanska changed review comment from: PMID: 24466038 Wedding et al., 2014 Report of 4 patients from 2 Norwegian families with biallelic variants in SPG7. Individuals presented with a combination of progressive external ophthalmoplegia and spastic paraplegia. Family A (consanguineous) - 2 affected siblings, homozygous for SPG7 c.2102A>C, p.H 701P - heterozygous in unaffected subjects. Family B (no consanguinity) - compound het for c.2102A>C, p.H 701P and c.1454_1462del Immunohistochemical studies in skeletal muscle showed mosaic deficiency predominantly affecting respiratory complex I, but also complexes III and IV. SPG7 is associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (accessed 8th Jan 2026). Entry for Spastic paraplegia 7 in GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1107/) mentions that the possibility of autosomal dominant inheritance remains controversial. SPG7 link to SPG7-related spastic paraplegia (biallelic_autosomal) is classified as definitive on the Gene2Phenotype Eye disorders panel.; to: PMID: 33841295 Charif et al., 2021 Identified 6 individuals with heterozygous SPG7 variants and 5 families with biallelic SPG7 variants. Heterozygous cases presented with isolated optic atrophy, while individuals with biallelic SPG7 variants had a syndromic presentation with optic atrophy as a feature. Seq method: isolated optic neuropathy panel. PMID: 32548275 Charif et al., 2020 7 families with isolated optic atrophy, with heterozygous SPG7 variants. Only 1 family with evidence of segregation with disease, unaffected family members not genotyped. Seq method: targeted optic atrophy panel - exonic sequences of 22 genes, including SPG7 and AFG3L2. PMID: 24466038 Wedding et al., 2014 Report of 4 patients from 2 Norwegian families with biallelic variants in SPG7. Individuals presented with a combination of progressive external ophthalmoplegia and spastic paraplegia. Family A (consanguineous) - 2 affected siblings, homozygous for SPG7 c.2102A>C, p.H 701P - heterozygous in unaffected subjects. Family B (no consanguinity) - compound het for c.2102A>C, p.H 701P and c.1454_1462del Immunohistochemical studies in skeletal muscle showed mosaic deficiency predominantly affecting respiratory complex I, but also complexes III and IV. PMID: 24727571 Pfeffer et al., 2014: Cohort of patients with Progressive external ophthalmoplegia (PEO), discovered 9 patients with compound heterozygous and 6 with heterozygous variants in SPG7. Of the 6 heterozygotes, 4/6 had PEO, 4/6 had ataxia and/or spasticity, 1/6 noted to have cerebellar atrophy. 3/6 patients were heterozygous for p.Ala510Val, with variable severity and age of onset (4-60 years old). Method: WES. PMID: 23065789 Klebe et al., 2012 Screened 135 unrelated index cases. Seq method: AFG3L2 and SPG7 sequencing only. p.Ala510Val was the most commonly detected SPG7 mutation (65%). Mostly biallelic HSP cases. All individuals with SPG7 were noted to have features of optic atrophy. Novel missense SPG7 mutation at the heterozygous state (SPG7:c.1232A>C, p.Asp411Ala) was identified as the cause of isolated autosomal dominant optic neuropathy in a large pedigree - variant not reported in gnomAD v4.1.0, absent in unaffected family members. SPG7 is associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (accessed 8th Jan 2026). Entry for Spastic paraplegia 7 in GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1107/) mentions that the possibility of autosomal dominant inheritance remains controversial. SPG7 link to SPG7-related spastic paraplegia (biallelic_autosomal) is classified as definitive on the Gene2Phenotype Eye disorders panel. |
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| Optic neuropathy v2.68 | AFG3L2 | Arina Puzriakova Phenotypes for gene: AFG3L2 were changed from Optic atrophy 12, 618977 to Optic atrophy 12, OMIM:618977 (AD); Spastic ataxia 5, autosomal recessive, OMIM:614487 (AR) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.58 | AFG3L2 | Ivone Leong Tag for-review was removed from gene: AFG3L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.58 | AFG3L2 | Ivone Leong commented on gene: AFG3L2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.57 | 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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| Optic neuropathy v2.27 | AFG3L2 | Ivone Leong reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.27 | AFG3L2 | Ivone Leong Tag for-review tag was added to gene: AFG3L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.27 | AFG3L2 | Ivone Leong Publications for gene: AFG3L2 were set to 29181157; 26539208; 30544562; 30252181; 30389403; 30252181; 30389403; 32219868 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.26 | AFG3L2 | Ivone Leong Publications for gene: AFG3L2 were set to 29181157; 26539208; 30544562; 30252181; 30389403; 30252181; 30389403 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.25 | AFG3L2 | Ivone Leong Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive, 614487; Spinocerebellar ataxia 28, 610246 to Optic atrophy 12, 618977 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.22 | AFG3L2 | Ivone Leong Phenotypes for gene: AFG3L2 were changed from SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE, 614487; SPINOCEREBELLAR ATAXIA 28, 610246 to Spastic ataxia 5, autosomal recessive, 614487; Spinocerebellar ataxia 28, 610246 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.21 | AFG3L2 | Ivone Leong Publications for gene: AFG3L2 were set to 29181157; 26539208; 30544562 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.3 | AFG3L2 | Sara Martins reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32219868; Phenotypes: Spastic ataxia 5, autosomal recessive (MIM#614487), Spinocerebellar ataxia 28 (MIM#610246); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.3 | AFG3L2 | Zornitza Stark reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29181157, 26539208, 30252181, 30389403; Phenotypes: Spastic ataxia 5, autosomal recessive (MIM#614487), Spinocerebellar ataxia 28 (MIM#610246); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.31 | AFG3L2 | Ivone Leong Phenotypes for gene: AFG3L2 were changed from to SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE, 614487; SPINOCEREBELLAR ATAXIA 28, 610246 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.30 | AFG3L2 | Ivone Leong Publications for gene: AFG3L2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.29 | AFG3L2 | Ivone Leong Mode of inheritance for gene: AFG3L2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.28 | AFG3L2 | Tom Cullup reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29181157, 26539208, 30544562; Phenotypes: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE, 614487, SPINOCEREBELLAR ATAXIA 28, 610246; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.27 | AFG3L2 |
Ivone Leong gene: AFG3L2 was added gene: AFG3L2 was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber Mode of inheritance for gene: AFG3L2 was set to |
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