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| Adult onset hereditary spastic paraplegia v2.15 | MAG | Arina Puzriakova Publications for gene: MAG were set to 26179919; 24482476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v2.14 | MAG | Arina Puzriakova Classified gene: MAG as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v2.14 | MAG | Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red as onset is in early childhood | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v2.14 | MAG | Arina Puzriakova Gene: mag has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v2.13 | MAG | Arina Puzriakova Phenotypes for gene: MAG were changed from Spastic paraplegia 75, autosomal recessive, 616680 to Spastic paraplegia 75, autosomal recessive, OMIM:616680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v2.9 | SPTAN1 |
Achchuthan Shanmugasundram changed review comment from: Comment on classification: This gene should be rated Green as there are several unrelated cases (many more than three cases identified with different variants) from multiple ethnicities reported with spastic paraplegia and supported by functional studies. OMIM reports Developmental and epileptic encephalopathy 5 (OMIM #613477) as a phenotype for SPTAN1 variants. Spastic quadriplegia is one of the clinical manifestations that has been reported as part of this phenotype. Two of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia, while it has also been reported in one year old male from PMID:22656320 and two patients from PMID:18065176. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, fifteen patients from seven families displaying p.Arg19Trp variant were reported with hereditary spastic paraplegia with age of onset ranging from congenital to adolescence, while three other patients displaying other variants (p.Arg1624Cys, p.Arg1098Cys & p.Gln2205Pro) displayed different extremes of spastic ataxia spectrum. In PMID:36331550, authors carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify individuals with SPTAN1 variants. Statistically significant enrichment of rare probably damaging SPTAN1 variants were identified in families with hereditary ataxia (HA) or spastic paraplegia (HSP). Out of 31 individuals identified with SPTAN1 variants, five (three families) were presented with complex HA/HSP, two were presented with complex HSP and one with pure HSP. Sources: Literature; to: Comment on classification: This gene should be rated Green as there are several unrelated cases (many more than three cases identified with different variants) reported with spastic paraplegia and supported by functional studies. Both autosomal dominant and autosomal recessive variants of this gene are implicated in spastic paraplegia and at least three cases are reported for both disorders. Autosomal dominant disorder: OMIM reports Developmental and epileptic encephalopathy 5 (OMIM #613477) as a phenotype for SPTAN1 variants. Spastic quadriplegia is one of the clinical manifestations that has been reported as part of this phenotype. Two of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia, while it has also been reported in one year old male from PMID:22656320 and two patients from PMID:18065176. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, fifteen patients from seven families displaying p.Arg19Trp variant were reported with hereditary spastic paraplegia with age of onset ranging from congenital to adolescence, while three other patients displaying other variants (p.Arg1624Cys, p.Arg1098Cys & p.Gln2205Pro) displayed different extremes of spastic ataxia spectrum. In PMID:36331550, authors carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify individuals with SPTAN1 variants. Statistically significant enrichment of rare probably damaging SPTAN1 variants were identified in families with hereditary ataxia (HA) or spastic paraplegia (HSP). Out of 31 individuals identified with SPTAN1 variants, five (three families) were presented with complex HA/HSP, two were presented with complex HSP and one with pure HSP. Autosomal recessive disorder: PMID:31515523 reported two cases of juvenile/ adult-onset spastic paraplegia caused by compound heterozygous variants (p.Ala858Ser/ p.Ala1428Gly & p.Ala858Ser/ Met2330Ile). PMID:34526651 reported a female patient with juvenile/ adult-onset spastic paraplegia and was identified with homozygous missense variant p.Ile1388Val. Sources: Literature |
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| Adult onset hereditary spastic paraplegia v2.8 | SPTAN1 |
Achchuthan Shanmugasundram gene: SPTAN1 was added gene: SPTAN1 was added to Hereditary spastic paraplegia - adult onset. Sources: Literature Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTAN1 were set to 18065176; 20493457; 22656320; 35150594; 36331550 Phenotypes for gene: SPTAN1 were set to Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064 Review for gene: SPTAN1 was set to GREEN Added comment: Comment on classification: This gene should be rated Green as there are several unrelated cases (many more than three cases identified with different variants) from multiple ethnicities reported with spastic paraplegia and supported by functional studies. OMIM reports Developmental and epileptic encephalopathy 5 (OMIM #613477) as a phenotype for SPTAN1 variants. Spastic quadriplegia is one of the clinical manifestations that has been reported as part of this phenotype. Two of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia, while it has also been reported in one year old male from PMID:22656320 and two patients from PMID:18065176. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, fifteen patients from seven families displaying p.Arg19Trp variant were reported with hereditary spastic paraplegia with age of onset ranging from congenital to adolescence, while three other patients displaying other variants (p.Arg1624Cys, p.Arg1098Cys & p.Gln2205Pro) displayed different extremes of spastic ataxia spectrum. In PMID:36331550, authors carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify individuals with SPTAN1 variants. Statistically significant enrichment of rare probably damaging SPTAN1 variants were identified in families with hereditary ataxia (HA) or spastic paraplegia (HSP). Out of 31 individuals identified with SPTAN1 variants, five (three families) were presented with complex HA/HSP, two were presented with complex HSP and one with pure HSP. Sources: Literature |
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| Adult onset hereditary spastic paraplegia v1.7 | GJA1 |
Zornitza Stark gene: GJA1 was added gene: GJA1 was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list Mode of inheritance for gene: GJA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GJA1 were set to 31023660 Phenotypes for gene: GJA1 were set to Hereditary spastic paraplegia; Oculodentodigital dysplasia, MIM#164200 Review for gene: GJA1 was set to GREEN gene: GJA1 was marked as current diagnostic Added comment: 8 individuals from 5 families with oculodentodigital dysplasia presenting in adulthood with onset of spastic paraplegia and white matter changes on imaging. Sources: Expert list |
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| Adult onset hereditary spastic paraplegia v0.148 | MAG | Louise Daugherty commented on gene: MAG: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.147 | MAG |
Louise Daugherty Source Expert Review Amber was added to MAG. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Adult onset hereditary spastic paraplegia v0.146 | MAG | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.54 | MAG | Louise Daugherty Source Yorkshire and North East GLH was added to MAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | MAG | Nick Beauchamp reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | MAG | Louise Daugherty commented on gene: MAG: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.42 | MAG | Louise Daugherty commented on gene: MAG: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.30 | MAG |
Louise Daugherty Added phenotypes Spastic paraplegia 75, autosomal recessive, 616680 for gene: MAG Publications for gene MAG were changed from to 26179919; 24482476 |
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| Adult onset hereditary spastic paraplegia v0.29 | MAG | Chris Buxton reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: ; Publications: 24482476, 26179919; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.28 | MAG | Louise Daugherty Source South West GLH was added to MAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.6 | MAG | Louise Daugherty reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.5 | MAG | James Polke reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.4 | MAG |
Louise Daugherty Source Expert Review Green was added to MAG. Mode of inheritance for gene MAG was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 75, autosomal recessive, 616680 for gene: MAG Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Adult onset hereditary spastic paraplegia v0.3 | MAG | Louise Daugherty Source NHS GMS was added to MAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.2 | MAG |
Louise Daugherty gene: MAG was added gene: MAG was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: MAG was set to |
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