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| Childhood onset hereditary spastic paraplegia v4.38 | HMBS |
Achchuthan Shanmugasundram gene: HMBS was added gene: HMBS was added to Childhood onset hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: HMBS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMBS were set to 27558376; 34089223 Phenotypes for gene: HMBS were set to Leukoencephalopathy, HP:0002352; hereditary spastic paraplegia, MONDO:0019064 Review for gene: HMBS was set to GREEN Added comment: PMID:27558376 reported three siblings with compound heterozygous missense HMBS variants (c.500G>A/ p.Arg167Gln & c.674G>A/ p.Arg225Gln) and a disease characterised by childhood-onset slowly progressive spastic paraparesis, cerebellar ataxia, peripheral neuropathy, and in 2 patients, optic atrophy as well as vertical gaze and convergence palsies and nystagmus. They had a similar MRI pattern characterized by symmetrical signal abnormalities in the periventricular and deep cerebral white matter, thalami, and central part of the pons, and cerebellar atrophy was present in advanced disease stages. PMID:34089223 reported two patients from a family with homozygous variant (c.251C>A/ p.Ala84Asp) and another patient from a different family with the same compound heterozygous variants as the siblings reported in PMID:27558376 (c.500G>A/ p.Arg167Gln & c.674G>A/ p.Arg225Gln). All patients presented with slowly progressive spasticity, ataxia, peripheral neuropathy, with or without mild cognitive impairment, and/or ocular disease with onset in childhood or adolescence. Their brain MRIs show mainly confluent signal abnormalities in the periventricular and deep white matter and bilateral thalami. However, the onset of the disease was during childhood in individuals with the homozygous variant (7 years and late childhood), while the onset was at 22 years of age in the third individual with compound heterozygous variants. Monoallelic variants in HMBS gene have been associated with acute intermittent porphyria (MIM #176000) in OMIM, but biallelic variants have not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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| Childhood onset hereditary spastic paraplegia v4.9 | CCDC82 |
Achchuthan Shanmugasundram gene: CCDC82 was added gene: CCDC82 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: CCDC82 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC82 were set to 35118659; 35373332 Phenotypes for gene: CCDC82 were set to neurodevelopmental disorder, MONDO:0700092; hereditary spastic paraplegia, MONDO:0019064 Review for gene: CCDC82 was set to AMBER Added comment: PMID: 35118659 reported two siblings presenting with global global developmental delay (last evaluation at 4 years and 9 months) and spasticity. They also had a common history of infantile spasms with the elder developing GTC convulsions with spontaneous resolution and both presented with microcephaly (<-2 and <-3SD). They harboured homozygous variant c.535C>T ( p.Arg179Ter). PMID: 35373332 reported a 21 years old male who presented with features included short stature, intellectual disability, spastic paraparesis (at the age of 3 years). Gelastic seizures were suspected but not confirmed (repeated normal EEGs). This patient harboured a homozygous frameshift CCDC82 variant c.183del (p.Phe61Leufs*27) and the parents were heterozygous carriers. There was another homozygous variant, albeit classified as VUS and not thought to fit the clinical presentation. Sources: Literature |
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| Childhood onset hereditary spastic paraplegia v3.11 | SPTAN1 |
Achchuthan Shanmugasundram changed review comment from: Comment on classification: This gene should be rated Green as there are several unrelated cases (>3 cases identified with different variants) reported with childhood/ early-onset spastic paraplegia. Two of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia whose age of onset were three years and seven years, while it has also been reported in one year old male from PMID:22656320. 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. Sources: Literature; to: Comment on classification: This gene should be rated Green as there are several unrelated cases (>3 cases identified with different variants) reported with childhood/ early-onset spastic paraplegia. Two of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia whose age of onset were three years and seven years, while it has also been reported in one year old male from PMID:22656320. 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 (2 cases with congenital, 11 with childhood and 2 with adolescence-onset). Sources: Literature |
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| Childhood onset hereditary spastic paraplegia v3.11 | SPTAN1 |
Achchuthan Shanmugasundram gene: SPTAN1 was added gene: SPTAN1 was added to Hereditary spastic paraplegia - childhood 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 20493457; 22656320; 35150594 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 (>3 cases identified with different variants) reported with childhood/ early-onset spastic paraplegia. Two of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia whose age of onset were three years and seven years, while it has also been reported in one year old male from PMID:22656320. 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. Sources: Literature |
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| Childhood onset hereditary spastic paraplegia v2.53 | ARG1 | Arina Puzriakova Phenotypes for gene: ARG1 were changed from Progressive spastic tetraplegia; Argininaemia, 207800 to Argininemia, OMIM:207800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.149 | ARG1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.75 | ARG1 | Louise Daugherty Source Yorkshire and North East GLH was added to ARG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.74 | ARG1 | Louise Daugherty commented on gene: ARG1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.73 | ARG1 | Nick Beauchamp reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.48 | ARG1 | Louise Daugherty reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.6 | ARG1 | James Polke reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Argininaemia, 207800, Progressive spastic tetraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.5 | ARG1 | Louise Daugherty Source NHS GMS was added to ARG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.4 | ARG1 | Louise Daugherty Source London North GLH was added to ARG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.3 | ARG1 |
Louise Daugherty Added phenotypes Progressive spastic tetraplegia; Argininaemia, 207800 for gene: ARG1 Publications for gene ARG1 were changed from 26310552; 23859858; 2365823; 1463019 to 2365823; 23859858; 1463019; 26310552 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Childhood onset hereditary spastic paraplegia v1.0 | ARG1 | Arianna Tucci commented on gene: ARG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v0.35 | ARG1 | Rebecca Foulger Classified gene: ARG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v0.35 | ARG1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v0.35 | ARG1 | Rebecca Foulger Gene: arg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v0.34 | ARG1 | Rebecca Foulger Publications for gene: ARG1 were set to 23859858; 26310552 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v0.33 | ARG1 | Rebecca Foulger Phenotypes for gene: ARG1 were changed from Argininaemia; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v0.6 | ARG1 |
Sarah Leigh gene: ARG1 was added gene: ARG1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARG1 were set to 23859858; 26310552 Phenotypes for gene: ARG1 were set to Argininaemia; Progressive spastic tetraplegia |
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