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| Optic neuropathy v5.44 | SPG7 | Ida Ertmanska Tag Q1_26_expert_review tag was added to gene: SPG7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v5.39 | SPG7 | Achchuthan Shanmugasundram Phenotypes for gene: SPG7 were changed from SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, OMIM:607259; autosomal dominant optic atroph, MONDO:0020250 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.38 | SPG7 | Ida Ertmanska edited their review of gene: SPG7: Changed publications to: 23065789, 24466038, 24727571, 32548275, 33841295, 37983191 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 Tag digenic tag was added to gene: SPG7. Tag Q1_26_MOI tag was added to gene: SPG7. |
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| 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 v5.38 | SPG7 | Ida Ertmanska reviewed gene: SPG7: Rating: ; Mode of pathogenicity: None; Publications: 24466038, 24767997, 26539208, 30252181, 33045469, 39978794; Phenotypes: Spastic paraplegia 7, autosomal recessive, OMIM:607259, hereditary spastic paraplegia 7, MONDO:0011803; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v3.7 | SPG7 |
Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: SPG7. Tag Q3_22_NHS_review was removed from gene: SPG7. |
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| Optic neuropathy v3.7 | SPG7 | Achchuthan Shanmugasundram commented on gene: SPG7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v3.6 | SPG7 |
Achchuthan Shanmugasundram Source NHS GMS was added to SPG7. Mode of inheritance for gene SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
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| Optic neuropathy v2.72 | SPG7 | Ivone Leong edited their review of gene: SPG7: Added comment: Based on the expert review from Penny Clouston (Oxford) and recent literature the MOI should be changed from "BIALLELIC, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal".; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.72 | SPG7 |
Ivone Leong Tag Q3_21_MOI was removed from gene: SPG7. Tag Q3_21_NHS_review was removed from gene: SPG7. Tag Q3_22_MOI tag was added to gene: SPG7. Tag Q3_22_NHS_review tag was added to gene: SPG7. |
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| Optic neuropathy v2.72 | SPG7 |
Ivone Leong Tag Q3_21_MOI tag was added to gene: SPG7. Tag Q3_21_NHS_review tag was added to gene: SPG7. |
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| Optic neuropathy v2.72 | SPG7 | Ivone Leong Phenotypes for gene: SPG7 were changed from SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, 607259 to SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, OMIM:607259; autosomal dominant optic atroph, MONDO:0020250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.71 | SPG7 | Ivone Leong Added comment: Comment on publications: New publications added | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.71 | SPG7 | Ivone Leong Publications for gene: SPG7 were set to 9635427; 23065789; 22964162; 25034272 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.70 | SPG7 | Penny Clouston reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32548275, 33841295; Phenotypes: Dominnat optic atrophy; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.108 | SPG7 | Ivone Leong Classified gene: SPG7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.108 | SPG7 | Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. There are >3 unrelated cases with different variants reported. It is associated with a phenotype in OMIM but not in Gene2Phenotype. Based on this evidence and the expert review, the gene has been given a green rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.108 | SPG7 | Ivone Leong Gene: spg7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.107 | SPG7 | Ivone Leong Publications for gene: SPG7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.84 | SPG7 | Ivone Leong Phenotypes for gene: SPG7 were changed from to SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, 607259 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.83 | SPG7 | Ivone Leong Mode of inheritance for gene: SPG7 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.28 | SPG7 | Tom Cullup reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, 607259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.27 | SPG7 | Ivone Leong Source London North GLH was added to SPG7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy | SPG7 | Ellen Thomas marked SPG7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy | SPG7 | Ellen Thomas classified SPG7 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy | SPG7 | Ellen Thomas commented on SPG7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy | SPG7 | Ellen McDonagh classified SPG7 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy | SPG7 | Ellen McDonagh commented on SPG7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||