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Childhood onset hereditary spastic paraplegia v4.39 | RTN2 | Nour Elkhateeb reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38527963; Phenotypes: Weakness in the distal upper and lower limbs, Lower limb spasticity, Hyperreflexia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v4.39 | HMBS | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated families reported with spastic paraparesis. Hence, this gene can be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v4.37 | ACBD6 |
Arina Puzriakova gene: ACBD6 was added gene: ACBD6 was added to Childhood onset hereditary spastic paraplegia. Sources: Expert Review Amber Q1_24_promote_green tags were added to gene: ACBD6. Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD6 were set to 21937992; 32108178; 36457943; 37951597 Phenotypes for gene: ACBD6 were set to Neurodevelopmental disorder, MONDO:0700092 Penetrance for gene: ACBD6 were set to Complete |
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Childhood onset hereditary spastic paraplegia v4.36 | CLDN11 |
Achchuthan Shanmugasundram changed review comment from: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including nystagmus and hypermetropia. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein. This gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes spasticity as one of the clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype. Sources: Literature; to: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including nystagmus and hypermetropia. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein. This gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes spasticity as one of the clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v4.34 | CLDN11 |
Achchuthan Shanmugasundram changed review comment from: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein. This gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes spasticity as one of the clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype. Sources: Literature; to: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including nystagmus and hypermetropia. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein. This gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes spasticity as one of the clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v4.33 | CLDN11 |
Achchuthan Shanmugasundram gene: CLDN11 was added gene: CLDN11 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: CLDN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLDN11 were set to 33313762 Phenotypes for gene: CLDN11 were set to Leukodystrophy, hypomyelinating, 22, OMIM:619328 Review for gene: CLDN11 was set to GREEN Added comment: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein. This gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes spasticity as one of the clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v4.32 | ALK | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PMID:32989326 reported a large cohort study of cerebral palsy, where two patients were identified with monoallelic ALK variants and presented with spastic diplegia with mild tremor or spastic-dystonic diplegia. Hence, this gene can be rated amber with current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v4.31 | ALK | Achchuthan Shanmugasundram reviewed gene: ALK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: spastic diplegia, MONDO:0001167; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v4.31 | RETREG1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of RETREG1 gene with spastic paraplegia and hence this gene can be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v4.28 | RETREG1 |
Achchuthan Shanmugasundram changed review comment from: PMID:24327336 - Spastic gait was reported in two siblings of Turkish ancestry presenting with hereditary sensory and autonomic neuropathy and identified with biallelic RETREG1 variant (c.826delA). PMID:30643655 - Mutilating sensory loss and spastic paraplegia were reported in two affected individuals from two unrelated Saudi families identified with nonsense RETREG1 variant (c.926 C>G/ p.Ser309Ter); to: PMID:24327336 - Spastic gait was reported in two siblings of Turkish ancestry presenting with hereditary sensory and autonomic neuropathy and identified with biallelic RETREG1 variant (c.826delA). PMID:30643655 - Mutilating sensory loss and spastic paraplegia were reported in two affected individuals from two unrelated Saudi families identified with nonsense RETREG1 variant (c.926 C>G/ p.Ser309Ter). Gavin Ryan also mentioned in his review that LoF homozygous variant in this gene was identified via Diagnostic Discovery in 100K and GMS WGS patient with features of Progressive spasticity, facial hypotonia, dysarthria, and fatiguable weakness. |
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Childhood onset hereditary spastic paraplegia v4.28 | RETREG1 |
Achchuthan Shanmugasundram commented on gene: RETREG1: PMID:24327336 - Spastic gait was reported in two siblings of Turkish ancestry presenting with hereditary sensory and autonomic neuropathy and identified with biallelic RETREG1 variant (c.826delA). PMID:30643655 - Mutilating sensory loss and spastic paraplegia were reported in two affected individuals from two unrelated Saudi families identified with nonsense RETREG1 variant (c.926 C>G/ p.Ser309Ter) |
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Childhood onset hereditary spastic paraplegia v4.28 | RETREG1 |
Gavin Ryan gene: RETREG1 was added gene: RETREG1 was added to Childhood onset hereditary spastic paraplegia. Sources: NHS GMS Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RETREG1 were set to 24327336 Penetrance for gene: RETREG1 were set to unknown Review for gene: RETREG1 was set to GREEN Added comment: Aydinlar et al identified individuals with hereditary neuropathy caused by variant in this gene who also had spasticity. Further, LoF homozygous variant in this gene identified via Diagnostic Discovery in 100K and GMS WGS patient with features of Progressive spasticity, facial hypotonia, dysarthria, and fatiguable weakness. Sources: NHS GMS |
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Childhood onset hereditary spastic paraplegia v4.25 | SPTSSA |
Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There are two unrelated cases (with the same variant) in support of the association of this gene with the autosomal dominant spastic paraplegia. Although there is only one case with the autosomal recessive condition, homozygous knockout mouse model is available in support of the association. Functional evidence is also available for both homozygous and heterozygous variants. Hence, the rating should be amber and the MOI should be set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'. |
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Childhood onset hereditary spastic paraplegia v4.24 | SPTSSA |
Achchuthan Shanmugasundram changed review comment from: Two unrelated patients were identified with the same de novo missense heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous truncation variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact. Functional studies in fibroblasts showed dysregulation of the sphingolipid (SL) synthesis pathway, showing that both variants impair ORMDL regulation of the pathway leading to various levels of increased SL. Over expression of human SPTSSA was shown to lead to motor development in Drosophila, rescued by expression of ORMDL for WT SPTSSA but not mutant SPTSSA. The heterozygous p.Thr51Ile variant was shown to impact regulation more than the homozygous truncation variant, while the truncated region was previously shown to be important for ORMDL regulation. Mice model with a homozygous knockout of the functional equivalent sptssb had early onset ataxia and died prematurely, with evidence of axonic degeneration. Sources: Literature; to: Two unrelated patients were identified with the same de novo missense heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous truncation variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact (PMID:36718090). Functional studies in fibroblasts showed dysregulation of the sphingolipid (SL) synthesis pathway, showing that both variants impair ORMDL regulation of the pathway leading to various levels of increased SL. Over expression of human SPTSSA was shown to lead to motor development in Drosophila, rescued by expression of ORMDL for WT SPTSSA but not mutant SPTSSA. The heterozygous p.Thr51Ile variant was shown to impact regulation more than the homozygous truncation variant, while the truncated region was previously shown to be important for ORMDL regulation (PMID:36718090). Mice model with homozygous ssSPTa null mutants are embryonic lethal (PMID:33662400). However, homozygous knockout of the functional equivalent ssSPTb had early onset ataxia and died prematurely, with evidence of axonic degeneration (PMID:26438849). This gene has already been associated with relevant phenotypes in OMIM (MIMs #620416 & #620417). Sources: Literature |
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Childhood onset hereditary spastic paraplegia v4.24 | SPTSSA |
Achchuthan Shanmugasundram changed review comment from: Two unrelated patients were identified with the same heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact. Sources: Literature; to: Two unrelated patients were identified with the same de novo missense heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous truncation variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact. Functional studies in fibroblasts showed dysregulation of the sphingolipid (SL) synthesis pathway, showing that both variants impair ORMDL regulation of the pathway leading to various levels of increased SL. Over expression of human SPTSSA was shown to lead to motor development in Drosophila, rescued by expression of ORMDL for WT SPTSSA but not mutant SPTSSA. The heterozygous p.Thr51Ile variant was shown to impact regulation more than the homozygous truncation variant, while the truncated region was previously shown to be important for ORMDL regulation. Mice model with a homozygous knockout of the functional equivalent sptssb had early onset ataxia and died prematurely, with evidence of axonic degeneration. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v4.24 | SPTSSA |
Achchuthan Shanmugasundram changed review comment from: Sources: Literature; to: Two unrelated patients were identified with the same heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v4.24 | SPTSSA |
Achchuthan Shanmugasundram gene: SPTSSA was added gene: SPTSSA was added to Childhood onset hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: SPTSSA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTSSA were set to 36718090 Phenotypes for gene: SPTSSA were set to Spastic paraplegia 90A, autosomal dominant, OMIM:620416; ?Spastic paraplegia 90B, autosomal recessive, OMIM:620417 Review for gene: SPTSSA was set to AMBER Added comment: Sources: Literature |
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Childhood onset hereditary spastic paraplegia v4.23 | PPFIBP1 |
Arina Puzriakova gene: PPFIBP1 was added gene: PPFIBP1 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature,Expert Review Amber Q2_23_promote_green tags were added to gene: PPFIBP1. Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPFIBP1 were set to 35830857; 30214071 Phenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 Penetrance for gene: PPFIBP1 were set to Complete |
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Childhood onset hereditary spastic paraplegia v4.21 | HECTD4 |
Arina Puzriakova gene: HECTD4 was added gene: HECTD4 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature,NHS GMS,Expert Review Green Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HECTD4 were set to 36401616 Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250 |
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Childhood onset hereditary spastic paraplegia v4.18 | SPTAN1 | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: Although there are three unrelated cases reported with biallelic SPTAN1 variants and hereditary spastic paraplegia, the age of onset of these cases were 33, 15 and 12 years (PMID:31515523; PMID:34526651). As the number of childhood-onset biallelic cases are not sufficient for green rating, the MOI should remain as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted". | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v4.17 | SPTAN1 | Sarah Leigh Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064 to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v4.16 | LETM1 |
Sarah Leigh changed review comment from: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder. PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).; to: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder. PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%), spasticity 8/15 (53%) (PMID: 36055214, figure 1c). |
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Childhood onset hereditary spastic paraplegia v4.16 | LETM1 |
Sarah Leigh gene: LETM1 was added gene: LETM1 was added to Childhood onset hereditary spastic paraplegia. Sources: Expert Review,Expert Review Amber Q3_23_promote_green, Q3_23_NHS_review, Q3_23_MOI tags were added to gene: LETM1. Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LETM1 were set to 36055214; 33815143 Phenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 |
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Childhood onset hereditary spastic paraplegia v4.15 | UCHL1 | Sarah Leigh Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221 to Spastic paraplegia 79B, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v4.14 | UCHL1 | Sarah Leigh Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, OMIM:615491 to Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v4.13 | AMFR |
Achchuthan Shanmugasundram changed review comment from: PMID:37119330 - 20 individuals from 8 unrelated consanguineous families of various origins were identified with autosomal recessive variants in AMFR gene. All patients had early disease onset (<3 years), including motor delay, lower limb hyperreflexia and spastic paraplegia that match the typical phenotypes of hereditary spastic paraplegia. Sources: Literature; to: PMID:37119330 - 20 individuals from 8 unrelated consanguineous families of various origins were identified with autosomal recessive variants in AMFR gene. All patients had early disease onset (<3 years), including motor delay, lower limb hyperreflexia and spastic paraplegia that match the typical phenotypes of hereditary spastic paraplegia. This gene has been associated with relevant phenotypes in OMIM (MIM #620379), but not in Gene2Phenotype. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v4.12 | AMFR |
Achchuthan Shanmugasundram gene: AMFR was added gene: AMFR was added to Childhood onset hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: AMFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMFR were set to 37119330 Phenotypes for gene: AMFR were set to Spastic paraplegia 89, autosomal recessive, OMIM:620379 Review for gene: AMFR was set to GREEN Added comment: PMID:37119330 - 20 individuals from 8 unrelated consanguineous families of various origins were identified with autosomal recessive variants in AMFR gene. All patients had early disease onset (<3 years), including motor delay, lower limb hyperreflexia and spastic paraplegia that match the typical phenotypes of hereditary spastic paraplegia. 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 v4.7 | CHMP3 |
Arina Puzriakova gene: CHMP3 was added gene: CHMP3 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: CHMP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHMP3 were set to 35710109 Phenotypes for gene: CHMP3 were set to Complex spastic quadriplegia associated with developmental delay and seizures Added comment: Cohen-Barak et al., 2022 (PMID: 35710109) reported on a consanguineous family, in which five individuals presented with intellectual and progressive motor disabilities, seizures and spastic quadriplegia, associated with a homozygous variant in CHMP3. Patient derived fibroblasts expressed ultrastructural and molecular features of impaired autophagy, partially rescued by ectopic expression of WT-CHMP3. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v4.4 | ATAD3A | Arina Puzriakova edited their review of gene: ATAD3A: Added comment: PMID: 34387651 - one patient with spastic diplegic gait that appeared stable since early infancy, harbouring the same p.(Gly355Asp) variant in ATAD3A as seen in the patient previously reported by Cooper et al. 2017 (PMID: 28158749). This is the second case where the early phenotype was notable for spasticity in early childhood and therefore upgrading the rating from Red to Amber.; Changed publications to: 28158749, 27640307, 33845882, 34387651; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v4.3 | SPG7 | Sarah Leigh Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, 607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v4.1 | WASHC5 | Achchuthan Shanmugasundram reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: None; Publications: 17160902, 23455931, 26572744, 31814071, 33662919; Phenotypes: Spastic paraplegia 8, autosomal dominant, OMIM:603563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v3.28 | Arina Puzriakova List of related panels changed from Childhood onset hereditary spastic paraplegia; Hereditary spastic paraplegia - childhood onset; R61 to Hereditary spastic paraplegia - childhood onset; R61 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v3.27 |
Eleanor Williams Panel name changed from Hereditary spastic paraplegia - childhood onset to Childhood onset hereditary spastic paraplegia List of related panels changed from Childhood onset hereditary spastic paraplegia; R61 to Childhood onset hereditary spastic paraplegia; Hereditary spastic paraplegia - childhood onset; R61 |
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Childhood onset hereditary spastic paraplegia v3.25 | RNF170 | Achchuthan Shanmugasundram Phenotypes for gene: RNF170 were changed from Hereditary spastic paraplegia to Spastic paraplegia 85, autosomal recessive, OMIM:619686 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v3.23 | RNF170 |
Achchuthan Shanmugasundram changed review comment from: PMID:31636353 reported 9 patients from 4 unrelated families with childhood-onset spastic paraplegia. The age of onset of the condition ranged from 2 to 5 years of age and they were all identified with a homozygous variant in RNF170 gene. It is a neurological disorder characterised by the onset of motor symptoms in the first few years of life. Affected individuals have spasticity and hyperreflexia of the lower limbs resulting in gait abnormalities, with oilder patients also having upper limb involvement and axonal polyneuropathy. PMID:33165979 reported four members from a single family carrying a homozygous stop gain variant in RNF170 and diagnosed with hereditary spastic paraplegia. PMID:35041108 reported a 7 year old girl with novel homozygous missense variant in RNF170 and she presented with progressive difficulty in walking that started when she was 3 years old, lower limb predominant spastic paraparesis, and mild upper limbs involvement with slight tremor in the hands, all occurring in the absence of neurodevelopmental or growth delays.; to: PMID:31636353 reported 9 patients from 4 unrelated families with childhood-onset spastic paraplegia. The age of onset of the condition ranged from 2 to 5 years of age and they were all identified with a homozygous variant in RNF170 gene. It is a neurological disorder characterised by the onset of motor symptoms in the first few years of life. Affected individuals have spasticity and hyperreflexia of the lower limbs resulting in gait abnormalities, with oilder patients also having upper limb involvement and axonal polyneuropathy. PMID:33165979 reported four members from a single family carrying a homozygous stop gain variant in RNF170 and diagnosed with hereditary spastic paraplegia. PMID:35041108 reported a 7 year old girl with novel homozygous missense variant in RNF170 and she presented with progressive difficulty in walking that started when she was 3 years old, lower limb predominant spastic paraparesis, and mild upper limbs involvement with slight tremor in the hands, all occurring in the absence of neurodevelopmental or growth delays. This gene has been associated with relevant phenotypes in OMIM (MIM #619686), but not yet in Gene2Phenotype. |
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Childhood onset hereditary spastic paraplegia v3.23 | RNF170 | Achchuthan Shanmugasundram reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: None; Publications: 31636353, 33165979, 35041108; Phenotypes: Spastic paraplegia 85, autosomal recessive, OMIM:619686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v3.22 | RAB3GAP2 |
Achchuthan Shanmugasundram changed review comment from: PMID:32740904 reported 9 cases identified with biallelic variants in RAB3GAP2 gene. Seven of them were diagnosed with Martsolf syndrome 1 (MIM #212720) and the remaining two with Warburg micro syndrome 2 (MIM #614225). All of them presented with spasticity (either paraparesis or quadriparesis) as one of the clinical manifestations. The age of patients ranged from 1 year 4 months to 14 years old, with six ion them under 10 years old. This gene has been associated with phenotypes in both OMIM and Gene2Phenotype.; to: PMID:32740904 reported 9 cases identified with biallelic variants in RAB3GAP2 gene. Seven of them were diagnosed with Martsolf syndrome 1 (MIM #212720) and the remaining two with Warburg micro syndrome 2 (MIM #614225). All of them presented with spasticity (either paraparesis or quadriparesis) as one of the clinical manifestations. The age of patients ranged from 1 year 4 months to 14 years old, with six of them under 10 years old. This gene has been associated with phenotypes in both OMIM and Gene2Phenotype. |
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Childhood onset hereditary spastic paraplegia v3.20 | SPAST | Sarah Leigh Phenotypes for gene: SPAST were changed from Spastic paraplegia 4, autosomal dominant, 182601 to Spastic paraplegia 4, autosomal dominant, OMIM:182601; hereditary spastic paraplegia 4, MONDO:0008438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v3.17 | MAG |
Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least 12 individuals from 8 families have been identified with biallelic variants in this gene. Clinical features are characterised by spasticity (9/13), neuropathy (8/13), optic atrophy (7/13), variable cognitive deficits (7/13), and cerebellar signs (10/13) including ataxia in some (8/13) although 3/10 showed normal brain MRI results. |
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Childhood onset hereditary spastic paraplegia v3.16 | MAG | Arina Puzriakova Phenotypes for gene: MAG were changed from Spastic paraplegia 75, autosomal recessive, 616680 to Spastic paraplegia 75, autosomal recessive, OMIM:616680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v3.14 | KLC2 | Arina Puzriakova Phenotypes for gene: KLC2 were changed from Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541 to Spastic paraplegia, optic atrophy, and neuropathy, OMIM:609541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v3.10 | ISCA-46304-Gain |
Arina Puzriakova Region: ISCA-46304-Gain was added Region: ISCA-46304-Gain was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-46304-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for Region: ISCA-46304-Gain were set to 22679399; 29141583; 29618507; 32043567 |
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Childhood onset hereditary spastic paraplegia v3.7 | TECPR2 | Mafalda Gomes Phenotypes for gene: TECPR2 were changed from Spastic paraplegia 49, autosomal recessive, 615031 to Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v3.2 | DDX3X |
Arina Puzriakova changed review comment from: This gene is associated with a syndromic ID phenotype. A subset (~45%) of affected individuals develop movement disorders. This can comprise progressive spasticity which in some cases forms a presenting feature that is as key as ID, indicating that inclusion of DDX3X on this panel is likely to be beneficial in a diagnostic setting. Therefore, recommending that this gene is rated Green at the next GMS panel update. Sources: Literature; to: This gene is associated with a syndromic ID phenotype. A subset (~45%) of affected individuals develop a movement disorder. This can comprise progressive spasticity which in some cases forms a presenting feature that is as key as ID, indicating that inclusion of DDX3X on this panel is likely to be beneficial in a diagnostic setting. Therefore, recommending that this gene is rated Green at the next GMS panel update. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v3.2 | DDX3X |
Arina Puzriakova gene: DDX3X was added gene: DDX3X was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Q4_22_promote_green tags were added to gene: DDX3X. Mode of inheritance for gene: DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: DDX3X were set to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958 Review for gene: DDX3X was set to GREEN Added comment: This gene is associated with a syndromic ID phenotype. A subset (~45%) of affected individuals develop movement disorders. This can comprise progressive spasticity which in some cases forms a presenting feature that is as key as ID, indicating that inclusion of DDX3X on this panel is likely to be beneficial in a diagnostic setting. Therefore, recommending that this gene is rated Green at the next GMS panel update. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v2.153 | KDM5C | Arina Puzriakova Phenotypes for gene: KDM5C were changed from Intellectual disability; developmental delay; epilepsy; progressive spasticity; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; hypothyroidism to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, OMIM:300534 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.151 | CTNNB1 |
Arina Puzriakova gene: CTNNB1 was added gene: CTNNB1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Q4_22_promote_green tags were added to gene: CTNNB1. Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTNNB1 were set to 23033978; 24614104; 25326669; 26968164; 27915094; 34321325 Phenotypes for gene: CTNNB1 were set to Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075 Review for gene: CTNNB1 was set to GREEN Added comment: Childhood-onset spasticity is a key feature of the neurodevelopmental phenotype caused by pathogenic monoallelic variants in the CTNNB1 gene. Over 15 unrelated cases reported in literature, almost all of which developed spasticity which significantly affected ability to walk. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v2.149 | NRCAM |
Sarah Leigh gene: NRCAM was added gene: NRCAM was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature,Expert Review Amber Q3_22_rating, Q3_22_MOI tags were added to gene: NRCAM. Mode of inheritance for gene: NRCAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRCAM were set to 35108495 Phenotypes for gene: NRCAM were set to Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833 Penetrance for gene: NRCAM were set to Complete |
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Childhood onset hereditary spastic paraplegia v2.147 | BLOC1S1 |
Arina Puzriakova gene: BLOC1S1 was added gene: BLOC1S1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature watchlist tags were added to gene: BLOC1S1. Mode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLOC1S1 were set to 33875846 Phenotypes for gene: BLOC1S1 were set to severe intellectual disability; severe global developmental delay; epilepsy Penetrance for gene: BLOC1S1 were set to unknown |
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Childhood onset hereditary spastic paraplegia v2.146 | NDUFA12 |
Arina Puzriakova gene: NDUFA12 was added gene: NDUFA12 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,PanelApp,South West GLH Q3_22_rating tags were added to gene: NDUFA12. Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA12 were set to 21617257; 33715266; 35141356 Phenotypes for gene: NDUFA12 were set to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 |
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Childhood onset hereditary spastic paraplegia v2.145 | TAF8 |
Arina Puzriakova gene: TAF8 was added gene: TAF8 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature,Expert Review Amber Q3_22_rating tags were added to gene: TAF8. Mode of inheritance for gene: TAF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF8 were set to 29648665; 35759269 Phenotypes for gene: TAF8 were set to Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972 Penetrance for gene: TAF8 were set to unknown |
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Childhood onset hereditary spastic paraplegia v2.143 | KPNA3 | Eleanor Williams Phenotypes for gene: KPNA3 were changed from Infantile onset spastic paraplegia; developmental delay to autosomal dominant pure spastic paraplegia, MONDO:0015088 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.140 | KPNA3 | Eleanor Williams reviewed gene: KPNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34564892; Phenotypes: autosomal dominant pure spastic paraplegia, MONDO:0015088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.140 | NSRP1 |
Arina Puzriakova gene: NSRP1 was added gene: NSRP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature Q3_22_rating tags were added to gene: NSRP1. Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSRP1 were set to 34385670 Phenotypes for gene: NSRP1 were set to NSRP1-associated developmental delay, epilepsy and microcephaly |
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Childhood onset hereditary spastic paraplegia v2.138 | TMEM63C |
Sarah Leigh gene: TMEM63C was added gene: TMEM63C was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Q3_22_rating tags were added to gene: TMEM63C. Mode of inheritance for gene: TMEM63C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM63C were set to 35718349 Phenotypes for gene: TMEM63C were set to hereditary spastic paraplegia, MONDO:0019064 Review for gene: TMEM63C was set to GREEN Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID:35718349 reports four TMEM63C variants in seven individuals from three unrelated families with childhood onset hereditary spastic paraplegia, with mild intellectual disability in some cases. Functional studies in PMID:35718349, reveal a role for TMEM63C in regulating both endoplasmic reticulum and mitochondrial morphologies. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v2.135 | HSPD1 | Arina Puzriakova Added comment: Comment on mode of inheritance: Changed from 'monoallelic' to 'biallelic' as per the review by Zornitza Stark (Australian Genomics) stating that only biallelic variants cause a more severe phenotype including spasticity with onset in childhood. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.134 | HSPD1 | Arina Puzriakova Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant, 605280 to Leukodystrophy, hypomyelinating, 4, OMIM:612233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.133 | C19orf12 | Sarah Leigh Phenotypes for gene: C19orf12 were changed from Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 to ?Spastic paraplegia 43, autosomal recessive, OMIM:615043; Neurodegeneration with brain iron accumulation 4, OMIM: 614298 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.131 | ACER3 |
Arina Puzriakova gene: ACER3 was added gene: ACER3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature,Expert Review Amber Q1_22_rating tags were added to gene: ACER3. Mode of inheritance for gene: ACER3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACER3 were set to 26792856; 32816236; 34281620 Phenotypes for gene: ACER3 were set to Leukodystrophy, progressive, early childhood-onset, OMIM:617762 |
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Childhood onset hereditary spastic paraplegia v2.122 | SPATA5L1 |
Ivone Leong gene: SPATA5L1 was added gene: SPATA5L1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature Q1_22_rating tags were added to gene: SPATA5L1. Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5L1 were set to 34626583 Phenotypes for gene: SPATA5L1 were set to Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 |
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Childhood onset hereditary spastic paraplegia v2.121 | PI4KA | Evan Reid commented on gene: PI4KA: This paper supports the idea that mutations in this gene can cause a relatively pure spastic paraplegia (PMID: 34415322 PMCID: PMC8557332 DOI: 10.1093/brain/awab124), which I think would justify inclusion of the gene on the HSP panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.121 | PI4KA | Evan Reid reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34415322; Phenotypes: spastic paraplegia, leukodystrophy, white matter abnromality, seizures, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.120 | RNASEH2B | Arina Puzriakova Added comment: Comment on list classification: Sufficient evidence of childhood-onset spasticity associated with variants in this gene. Upgraded from Red to Amber but should be promoted to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.119 | RNASEH2B | Arina Puzriakova Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, 610181; spastic paraparesis to Aicardi-Goutieres syndrome 2, OMIM:61018 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.118 | RAB3GAP2 | Arina Puzriakova Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia to Martsolf syndrome 1, OMIM:212720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.116 | MAPK8IP3 | Arina Puzriakova Added comment: Comment on list classification: 18 individuals from 17 families reported with de novo variants in this gene (PMIDs: 30612693; 30945334) of which 8 subjects presented with spasticity, among other features. Overall there is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.115 | IFIH1 |
Arina Puzriakova Added comment: Comment on list classification: Spasticity can be a prominent feature of Aicardi-Goutières syndrome (OMIM:615846) and has been reported as an early presenting sign in some cases. There has also been a case of spastic paraplegia without other common manifestations such as abnormal brain imaging and impaired cognitive development. Overall there is value in including IFIH1 on this panel and therefore this gene should be promoted to Green at the next GMS panel update. |
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Childhood onset hereditary spastic paraplegia v2.113 | IBA57 | Arina Puzriakova Phenotypes for gene: IBA57 were changed from ?Spastic paraplegia 74, autosomal recessive, 616451 to ?Spastic paraplegia 74, autosomal recessive, OMIM:616451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.112 | IBA57 | Arina Puzriakova changed review comment from: Comment on list classification: No further evidence was emerged since initial curation and clinical review in 2019 and therefore will maintain the Amber gene rating on spasticity panels at this time.; to: Comment on list classification: No further evidence has emerged since initial curation and clinical review in 2019 and therefore will maintain the Amber gene rating on spasticity panels at this time. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.112 | IBA57 | Arina Puzriakova Added comment: Comment on list classification: No further evidence was emerged since initial curation and clinical review in 2019 and therefore will maintain the Amber gene rating on spasticity panels at this time. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.110 | GPT2 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. There is sufficient evidence to promote this gene to Green at the next GMS panel update. Spastic paraplegia is a frequently reported sign which develops later in the course of disease but is often severe. As this is a prominent feature of the condition there is value in including GPT2 on this panel. This gene is associated with a relevant phenotype in OMIM (OMIM:616281) but is not yet listed in G2P. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.109 | GPT2 | Arina Puzriakova Phenotypes for gene: GPT2 were changed from Mental retardation, autosomal recessive 49 MIM#616281 to Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.108 | EXOSC3 | Arina Puzriakova Added comment: Comment on list classification: Rating Amber as only two families have been reported to date with early-onset spastic paraplegia associated with biallelic variants in this gene. Other features included variable cognitive impairment and cerebellar atrophy but normal pons. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.105 | ELOVL1 | Arina Puzriakova reviewed gene: ELOVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23689133, 29496980, 30487246, 32123819; Phenotypes: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.105 | ELOVL1 | Arina Puzriakova Phenotypes for gene: ELOVL1 were changed from Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527 to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.102 | CPT1C | Arina Puzriakova Phenotypes for gene: CPT1C were changed from ?Spastic paraplegia 73, autosomal dominant, 616282, AD to Spastic paraplegia 73, autosomal dominant, OMIM:616282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.100 | AP5Z1 | Arina Puzriakova reviewed gene: AP5Z1: Rating: ; Mode of pathogenicity: None; Publications: 24833714, 27606357, 33543803; Phenotypes: Spastic paraplegia 48, autosomal recessive, OMIM:613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.100 | AP5Z1 | Arina Puzriakova Phenotypes for gene: AP5Z1 were changed from Spastic paraplegia 48, autosomal recessive, OMIM:613647 to Spastic paraplegia 48, autosomal recessive, OMIM:613647 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.99 | AP5Z1 | Arina Puzriakova Phenotypes for gene: AP5Z1 were changed from Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive to Spastic paraplegia 48, autosomal recessive, OMIM:613647 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.98 | KIDINS220 | Arina Puzriakova Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.87 | PI4KA |
Ivone Leong edited their review of gene: PI4KA: Added comment: After consulting with the Genomics England Clinical Team it was decided that this gene should be added to the Hereditary spastic paraplegia - childhood onset panel with an Amber rating. Helen Brittain: "I think the spasticity is likely to be secondary to the CNS findings and therefore might opt for amber at this stage, as it is perhaps unlikely to be clearly relevant to the more typical cohort with isolated spasticity that will be targeted by that panel."; Changed rating: AMBER |
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Childhood onset hereditary spastic paraplegia v2.87 | PI4KA |
Ivone Leong changed review comment from: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. PMID: 25855803. From OMIM: "3 fetuses were all diagnosed in utero with multiple congenital anomalies resulting in the termination of pregnancy between 16 and 34 weeks' gestation. All fetuses had bilateral perisylvian polymicrogyria and cerebellar hypoplasia or dysplasia. One had a small pons. Additional features included severe talipes equinovarus, externally rotated hips, and variable contractures of the limbs or fingers." PMID:34415322. 10 patients from 10 unrelated families with biallelic varaints in PI4KA. Patients showed a spectrum of severe global neurodevelopmental delay (8/10 moderate to severe ID), hypomyelination, cerebellar hyoplasia (1/10), cerebellar atrophy (5/10), bilateral perisylvian polymicrogyria (1/10), immunological problems (hypogammaglobulinaemia, lymphopaenia, and autoimmune neutorpaenia - 4/10), bowl dysfunction (4/10). Age of onset ranged from newborn to 17 years. PMID: 34415310. 7 unrelated families. Family 1: Amish. Severe extensive multiple intestinal atresia, IBD and combined immunodeficiency (2/4). Families 3 - 8 all have 1 affected individual, (Turkish, Indian, German and Italian). Global developmental delay (all), ID (severe to mild), cerebellar and/or brainstem anomalies (3/6), spasticity (all), immature gyral pattern (1/6), leukodystrophy (6/6), multiple intestinal atresia (0/6), IBD (3/6), combined immunodeficiency (2/6). Early age of onset.; to: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. PMID: 25855803. From OMIM: "3 fetuses were all diagnosed in utero with multiple congenital anomalies resulting in the termination of pregnancy between 16 and 34 weeks' gestation. All fetuses had bilateral perisylvian polymicrogyria and cerebellar hypoplasia or dysplasia. One had a small pons. Additional features included severe talipes equinovarus, externally rotated hips, and variable contractures of the limbs or fingers." PMID:34415322. 10 patients from 10 unrelated families with biallelic varaints in PI4KA. Patients showed a spectrum of severe global neurodevelopmental delay (8/10 moderate to severe ID), hypomyelination, cerebellar hyoplasia (1/10), cerebellar atrophy (5/10), bilateral perisylvian polymicrogyria (1/10), immunological problems (hypogammaglobulinaemia, lymphopaenia, and autoimmune neutorpaenia - 4/10), bowl dysfunction (4/10). Age of onset ranged from newborn to 17 years. PMID: 34415310. 7 unrelated families. Family 1: Amish. Severe extensive multiple intestinal atresia, IBD and combined immunodeficiency (2/4). Families 3 - 8 all have 1 affected individual, (Turkish, Indian, German and Italian). Global developmental delay (all), ID (severe to mild), cerebellar and/or brainstem anomalies (3/6), spasticity (all), immature gyral pattern (1/6), leukodystrophy (6/6), multiple intestinal atresia (0/6), IBD (3/6), combined immunodeficiency (2/6). Early age of onset. |
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Childhood onset hereditary spastic paraplegia v2.87 | PI4KA |
Ivone Leong gene: PI4KA was added gene: PI4KA was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber Q3_21_rating tags were added to gene: PI4KA. Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4KA were set to 25855803; 34415322; 34415310 Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
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Childhood onset hereditary spastic paraplegia v2.85 | GJA1 | Arina Puzriakova commented on gene: GJA1: Regarding inclusion of this gene on the childhood-onset panel, Helen Brittain (Genomics England Clinical Team) suggests - "As you say, there are sufficient cases albeit seemingly edge cases. I would be inclined to include it on the paediatric panel, as they are outlining the spasticity as a feature of ODDD, rather than a separate clinical entity. ODDD would be a paediatric-age diagnosis to make and the fact that it is clinically recognisable could aid in interpretation of variants of uncertain significance" | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.85 | GJA1 | Arina Puzriakova Entity copied from Hereditary spastic paraplegia - adult onset v1.73 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.85 | GJA1 |
Arina Puzriakova gene: GJA1 was added gene: GJA1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Amber Q3_21_rating tags were added to gene: GJA1. Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GJA1 were set to 18660473; 22214631; 29927410; 31023660; 33190326; 33612672 Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia, OMIM:164200; Spastic paraplegia |
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Childhood onset hereditary spastic paraplegia v2.84 | KPNA3 |
Dmitrijs Rots gene: KPNA3 was added gene: KPNA3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Mode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KPNA3 were set to PMID: 34564892 Phenotypes for gene: KPNA3 were set to Infantile onset spastic paraplegia; developmental delay Penetrance for gene: KPNA3 were set to unknown Mode of pathogenicity for gene: KPNA3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: KPNA3 was set to GREEN Added comment: 8 reported families with de novo missense variants, that segregates with pure HSP with infantile onset and some functional data PMID: 34564892 Sources: Literature |
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Childhood onset hereditary spastic paraplegia v2.84 | BSCL2 | Arina Puzriakova Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, OMIM:270685 to Silver spastic paraplegia syndrome, OMIM:270685; Neuropathy, distal hereditary motor, type VC, OMIM:619112 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.83 | ABHD16A |
Ivone Leong gene: ABHD16A was added gene: ABHD16A was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature Q4_21_rating tags were added to gene: ABHD16A. Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD16A were set to 34587489 Phenotypes for gene: ABHD16A were set to Spastic paraplegia; Intellectual disability |
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Childhood onset hereditary spastic paraplegia v2.82 | SLC25A15 | Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association. Spasticity can be a predominant presenting feature, and inclusion on the adult onset panel would ensure later onset, as well as edge cases are identified. SLC25A15 should be promoted to Green at the next GMS panel update.; to: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association. Spasticity can be a predominant presenting feature, particularly in early-onset cases. SLC25A15 should be promoted to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.82 | SLC25A15 | Arina Puzriakova Entity copied from Hereditary spastic paraplegia - adult onset v1.68 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.82 | SLC25A15 |
Arina Puzriakova gene: SLC25A15 was added gene: SLC25A15 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Amber Q3_21_rating tags were added to gene: SLC25A15. Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A15 were set to 11355015; 16376511; 18978333; 22465082; 28592010; 33314525 Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970 |
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Childhood onset hereditary spastic paraplegia v2.80 | GALC |
Arina Puzriakova gene: GALC was added gene: GALC was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Q3_21_rating tags were added to gene: GALC. Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALC were set to 20886637; 21070211; 26396125; 28547031; 30089515; 31185936 Phenotypes for gene: GALC were set to Krabbe disease OMIM:245200 Review for gene: GALC was set to GREEN Added comment: Biallelic variants in GALC are associated with Krabbe disease (MIM# 245200). Most patients present within the first 6 months of life with extreme irritability, spasticity, and developmental delay. A subset of cases also have later onset, including onset in the juvenile and adolescence period - all of which are relevant to this panel. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v2.79 | CHP1 |
Arina Puzriakova gene: CHP1 was added gene: CHP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature watchlist tags were added to gene: CHP1. Mode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHP1 were set to 23904602; 29379881; 32787936 Phenotypes for gene: CHP1 were set to Spastic ataxia 9, autosomal recessive, OMIM:618438 |
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Childhood onset hereditary spastic paraplegia v2.78 | ALDH3A2 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Childhood-onset spastic paraparesis is a feature of the condition associated with biallelic variants in this gene (MIM# 270200). There are sufficient unrelated cases (>3) to rate as Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.73 | L1CAM | Arina Puzriakova Phenotypes for gene: L1CAM were changed from Hereditary spastic paraplegia; X-linked hydrocephalus, MASA syndrome, 303350 to CRASH syndrome, OMIM:303350; MASA syndrome, OMIM:303350; Hydrocephalus due to aqueductal stenosis, OMIM:307000; Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000; Hydrocephalus with Hirschsprung disease, OMIM:307000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.72 | C12orf65 | Arina Puzriakova Phenotypes for gene: C12orf65 were changed from Spastic paraplegia 55, autosomal recessive, 615035; optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy; Combined oxidative phosphorylation deficiency 7, 613559 to Spastic paraplegia 55, autosomal recessive, OMIM:615035 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.71 | WDR45B | Arina Puzriakova Phenotypes for gene: WDR45B were changed from profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.; Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.70 | TFG | Arina Puzriakova Phenotypes for gene: TFG were changed from ?Spastic paraplegia 57, autosomal recessive, 615658, AR; Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD to Spastic paraplegia 57, autosomal recessive, OMIM:615658 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.68 | TFG |
Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be changed from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update. Monoallelic variants are associated with an adult onset neuropathy (MIM# 604484), a disorder that does not include spasticity and is therefore not relevant to this panel. |
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Childhood onset hereditary spastic paraplegia v2.66 | SPART | Arina Puzriakova Phenotypes for gene: SPART were changed from Troyer syndrome, 275900; Spastic paraplegia 20 to Troyer syndrome, OMIM:275900; Spastic paraplegia 20 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.61 | NKX6-2 | Arina Puzriakova Phenotypes for gene: NKX6-2 were changed from Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.59 | KIF1C | Arina Puzriakova Phenotypes for gene: KIF1C were changed from Spastic ataxia 2, autosomal recessive, 611302 to Spastic ataxia 2, autosomal recessive, OMIM:611302 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.54 | ENTPD1 | Arina Puzriakova Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia 64, 615683 to Spastic paraplegia 64, autosomal recessive, OMIM:615683 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v2.52 | ALS2 | Arina Puzriakova Phenotypes for gene: ALS2 were changed from Spastic paralysis, infantile onset ascending,autosomal recessive, 607225; Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100 to Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Primary lateral sclerosis, juvenile, OMIM:606353; Spastic paralysis, infantile onset ascending, OMIM:607225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.48 | KIF1A | Arina Puzriakova Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive, 610357; Mental retardation, autosomal dominant 9, 614255, AD; Neuropathy, hereditary sensory, type IIC, 614213 to Spastic paraplegia 30, autosomal dominant, OMIM:610357; Spastic paraplegia 30, autosomal recessive, OMIM:610357; NESCAV syndrome, OMIM:614255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.47 | WASHC5 | Ivone Leong Phenotypes for gene: WASHC5 were changed from Spastic paraplegia 8, autosomal dominant, 603563 to Spastic paraplegia 8, autosomal dominant, OMIM:603563 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.46 | BSCL2 | Arina Puzriakova Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, 270685 to Silver spastic paraplegia syndrome, OMIM:270685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.45 | ATAD3A | Arina Puzriakova Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, 617183 to Harel-Yoon syndrome, OMIM:617183; Spastic paraplegia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.44 | ATAD3A | Arina Puzriakova reviewed gene: ATAD3A: Rating: ; Mode of pathogenicity: None; Publications: 28158749, 27640307, 33845882; Phenotypes: Harel-Yoon syndrome, OMIM:617183, Spastic paraplegia; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.44 | ARL6IP1 | Eleanor Williams Phenotypes for gene: ARL6IP1 were changed from Spastic paraplegia to Spastic paraplegia 61, autosomal recessive, OMIM:615685; hereditary spastic paraplegia 61, MONDO:0014304 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.41 | ARL6IP1 | Eleanor Williams reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 31272422, 30980493, 28471035; Phenotypes: Spastic paraplegia 61, autosomal recessive, OMIM:615685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.41 | FAR1 |
Arina Puzriakova changed review comment from: Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype. Both biallelic and monoallelic variants have been linked to disease; both supported by functional data but showing distinct biochemical phenotypes. Spastic quadriparesis or spasticity were reported in 5/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and spastic paraparesis was a feature in 12/12 patients with heterozygous de novo variants (PMID: 33239752). Paediatric onset. Sources: Literature; to: Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype. Both biallelic and monoallelic variants have been linked to disease; both supported by functional data but showing distinct biochemical phenotypes. Spastic quadriparesis or spasticity were reported in 5/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and spastic paraparesis was a feature in 12/12 patients with heterozygous de novo variants affecting the Arg480 residue (PMID: 33239752). Paediatric onset. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v2.41 | BCAS3 |
Arina Puzriakova gene: BCAS3 was added gene: BCAS3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature Q2_21_rating tags were added to gene: BCAS3. Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCAS3 were set to 34022130 Phenotypes for gene: BCAS3 were set to Syndromic neurodevelopmental disorder |
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Childhood onset hereditary spastic paraplegia v2.40 | CYP7B1 | Arina Puzriakova Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive, 270800 to Spastic paraplegia 5A, autosomal recessive, OMIM:270800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.39 | HIKESHI |
Ivone Leong gene: HIKESHI was added gene: HIKESHI was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIKESHI were set to 26545878; 28000699 Phenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, OMIM:616881 |
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Childhood onset hereditary spastic paraplegia v2.37 | GLRX5 | Ivone Leong Phenotypes for gene: GLRX5 were changed from Spasticity, childhood-onset, with hyperglycinemia 616859 to Spasticity, childhood-onset, with hyperglycinemia, OMIM:616859 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.36 | POLR3K |
Ivone Leong gene: POLR3K was added gene: POLR3K was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature,Expert Review Amber watchlist, founder-effect tags were added to gene: POLR3K. Mode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3K were set to 30584594; 33659930 Phenotypes for gene: POLR3K were set to Leukodystrophy, hypomyelinating, 21, OMIM:619310 |
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Childhood onset hereditary spastic paraplegia v2.35 | AFG3L2 | Sarah Leigh reviewed gene: AFG3L2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive OMIM:614487, spastic ataxia 5 MONDO:0013776, Spinocerebellar ataxia 28 OMIM:610246, spinocerebellar ataxia type 28 MONDO:0012450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.35 | AFG3L2 | Sarah Leigh Phenotypes for gene: AFG3L2 were changed from Ataxia, spastic, 5, autosomal recessive; Spastic ataxia 5, autosomal recessive, 614487 to Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.32 | UCHL1 | Arina Puzriakova Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, 615491, AR to Spastic paraplegia 79, autosomal recessive, OMIM:615491 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.29 | FAR1 |
Arina Puzriakova gene: FAR1 was added gene: FAR1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Q2_21_rating tags were added to gene: FAR1. Mode of inheritance for gene: FAR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FAR1 were set to 25439727; 30561787; 33239752 Phenotypes for gene: FAR1 were set to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 Review for gene: FAR1 was set to GREEN Added comment: Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype. Both biallelic and monoallelic variants have been linked to disease; both supported by functional data but showing distinct biochemical phenotypes. Spastic quadriparesis or spasticity were reported in 5/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and spastic paraparesis was a feature in 12/12 patients with heterozygous de novo variants (PMID: 33239752). Paediatric onset. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v2.28 | HPDL | Cristina Dias reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32707086, 33188300; Phenotypes: microcephaly, spastic paraplegia, seizures, demyelinating neuropathy, regression, developmental delay, chronic progression, movement disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.28 | HPDL | Arina Puzriakova Phenotypes for gene: HPDL were changed from spastic paraplegia; spastic tetraplegia; microcephaly; brain atrophy; epilepsy; severe intellectual and motor disability to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613; Spastic paraplegia 83, autosomal recessive, OMIM:619027; Spastic paraplegia 83, autosomal recessive, MONDO:0033614 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.25 | HPDL | Arina Puzriakova reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 32707086, 33188300; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613, Spastic paraplegia 83, autosomal recessive, OMIM:619027, Spastic paraplegia 83, autosomal recessive, MONDO:0033614; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.25 | HPDL |
Evan Reid gene: HPDL was added gene: HPDL was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPDL were set to PMID: 32707086; 33188300 Phenotypes for gene: HPDL were set to spastic paraplegia; spastic tetraplegia; microcephaly; brain atrophy; epilepsy; severe intellectual and motor disability Penetrance for gene: HPDL were set to Complete Review for gene: HPDL was set to GREEN Added comment: Newly identified gene that can give a phenotype ranging from infantile epileptic encephalopathy to juvenile onset progressive spastic paraplegia. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v2.25 | RNU7-1 | Arina Puzriakova Added comment: Comment on list classification: Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag) - spasticity (with or without dystonia) was a feature in all 11 families reported with biallelic variants in this gene (PMID:33230297) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.24 | RNU7-1 |
Arina Puzriakova gene: RNU7-1 was added gene: RNU7-1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature for-review tags were added to gene: RNU7-1. Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU7-1 were set to 33230297 Phenotypes for gene: RNU7-1 were set to Type I interferonopathy; Aicardi-Goutières syndrome Review for gene: RNU7-1 was set to GREEN Added comment: Not associated with any phenotype in OMIM or Gene2Phenotype. - PMID: 33230297 (2020) - 16 individuals from 11 families with biallelic variants in the RNU7-1 gene. Clinical features were typical of Aicardi–Goutières syndrome, including spasticity, dystonia, epilepsy, peripheral neuropathy, brain calcification, mild skin involvement and delayed psychomotor development. Upregulated interferon signalling was detected in patient blood and fibroblasts. 4/12 variants were observed in 2 or more families - several from different ethnic backgrounds. 8 variants are recorded in gnomAD but at a frequency of ≤0.005, and no biallelic variants were identified in control populations. Some functional data showing a disturbance of histone RNA processing in patient-derived compared to control fibroblasts. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v2.23 | AP4E1 | Arina Puzriakova Phenotypes for gene: AP4E1 were changed from Spastic paraplegia 51, autosomal recessive, 613744 to Spastic paraplegia 51, autosomal recessive, OMIM:613744; Hereditary spastic paraplegia 51, MONDO:0013401 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.22 | AP4B1 | Arina Puzriakova Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive, 614066 to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.20 | STN1 |
Sarah Leigh gene: STN1 was added gene: STN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature for-review tags were added to gene: STN1. Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STN1 were set to 27432940; 32627942 Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341 Review for gene: STN1 was set to GREEN Added comment: Comments from Zornitza Stark (Australian Genomics) Three individuals from unrelated families described with a multisystem disorder characterized by premature aging, pancytopaenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding, as well as intracranial calcifications and leukodystrophy, resulting in spasticity, ataxia, or dystonia. Gene belongs on multiple panels. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v2.19 | ALK |
Zornitza Stark gene: ALK was added gene: ALK was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Mode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ALK were set to 32989326 Phenotypes for gene: ALK were set to Spastic-dystonic diplegia Review for gene: ALK was set to AMBER Added comment: Variants in this gene are linked to susceptibility to neuroblastoma. PMID: 32989326 - Large cohort study of cerebral palsy cases identified two de novo variants in two patients with spastic diplegia with mild tremor, scattered subcortical hyperintensities and an atrial septal defect; and spastic-dystonic diplegia, white matter abnormalities and epilepsy, respectively, with no evidence of neuroblastoma in either patient. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v2.19 | RHOB |
Zornitza Stark gene: RHOB was added gene: RHOB was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Mode of inheritance for gene: RHOB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RHOB were set to 32989326 Phenotypes for gene: RHOB were set to Cerebral palsy Review for gene: RHOB was set to AMBER Added comment: Recurrent de novo missense variant reported in 2 unrelated families from a 'cerebral palsy' cohort with supporting functional studies. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v2.15 | WASHC5 | Zornitza Stark reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant, 603563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.15 | TECPR2 | Zornitza Stark reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176824, 26542466; Phenotypes: Spastic paraplegia 49, autosomal recessive, 615031, Autonomic-sensory neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.15 | RNF170 |
Zornitza Stark gene: RNF170 was added gene: RNF170 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: RNF170 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNF170 were set to 31636353 Phenotypes for gene: RNF170 were set to Hereditary spastic paraplegia Review for gene: RNF170 was set to GREEN Added comment: Four families reported with a complicated HSP phenotype. Sources: Expert list |
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Childhood onset hereditary spastic paraplegia v2.15 | MAPK8IP3 |
Zornitza Stark gene: MAPK8IP3 was added gene: MAPK8IP3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAPK8IP3 were set to 30612693; 30945334 Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities, MIM# 618443 Review for gene: MAPK8IP3 was set to GREEN gene: MAPK8IP3 was marked as current diagnostic Added comment: PMID: 30612693 - 13 unrelated children patients with de novo variants, supported by functional studies. Patients have developmental delay (13/13), spasticity (4/13), ataxia (2/13), unstable gait (1/13), microcephaly (3/13), generalized seizures (3/13). No signs of regression, but cerebellar atrophy (3/12), thin corpus callosum (4/10), perisylvian polymicrogyria (2/12), white matter loss (4/12) was noted PMID: 30945334 - 5 child patients (4 families) with spastic diplegia (4/5), ID (5/5), epilepsy (2/5) and cerebellar atrophy (5/5), corpus callosum hypoplasia (5/5). Overall 8/18 individuals with spasticity. Sources: Expert list |
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Childhood onset hereditary spastic paraplegia v2.15 | MAG | Zornitza Stark reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 26179919, 31402626, 32629324; Phenotypes: Spastic paraplegia 75, autosomal recessive, MIM# 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.15 | KLC2 |
Zornitza Stark gene: KLC2 was added gene: KLC2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541 Review for gene: KLC2 was set to GREEN gene: KLC2 was marked as current diagnostic Added comment: In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. Gene is associated with disease, however deletion may not be tractable by all testing methods and/or this association may be better defined as a CNV. Sources: Expert list |
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Childhood onset hereditary spastic paraplegia v2.15 | IFIH1 |
Zornitza Stark gene: IFIH1 was added gene: IFIH1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IFIH1 were set to 25243380; 31427910; 24686847; 24995871 Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7 MIM#615846 Review for gene: IFIH1 was set to GREEN Added comment: At least four cases reported with spastic paraparesis as a feature of the condition. Sources: Expert list |
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Childhood onset hereditary spastic paraplegia v2.15 | IBA57 | Zornitza Stark reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 25609768, 30258207; Phenotypes: Spastic paraplegia 74, autosomal recessive MIM#616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.15 | HSPD1 | Zornitza Stark reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 4, MIM# 612233, Spastic paraplegia 13, autosomal dominant, MIM# 605280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.15 | GPT2 |
Zornitza Stark gene: GPT2 was added gene: GPT2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPT2 were set to 29882329; 31471722; 27601654 Phenotypes for gene: GPT2 were set to Mental retardation, autosomal recessive 49 MIM#616281 Review for gene: GPT2 was set to GREEN gene: GPT2 was marked as current diagnostic Added comment: Paediatric onset spastic paraglegia is a prominent feature of the condition, >3 unrelated families reported. Sources: Expert list |
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Childhood onset hereditary spastic paraplegia v2.15 | GLRX5 |
Zornitza Stark gene: GLRX5 was added gene: GLRX5 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLRX5 were set to 24334290; 30770271 Phenotypes for gene: GLRX5 were set to Spasticity, childhood-onset, with hyperglycinemia 616859 Review for gene: GLRX5 was set to GREEN gene: GLRX5 was marked as current diagnostic Added comment: Spasticity is a key presenting feature of this condition. Sources: Expert list |
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Childhood onset hereditary spastic paraplegia v2.15 | EXOSC3 |
Zornitza Stark gene: EXOSC3 was added gene: EXOSC3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC3 were set to 25149867; 23975261 Phenotypes for gene: EXOSC3 were set to Complicated hereditary spastic paraplegia Review for gene: EXOSC3 was set to AMBER Added comment: Two families with a complicated HSP phenotype. Sources: Expert list |
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Childhood onset hereditary spastic paraplegia v2.15 | ELOVL1 |
Zornitza Stark gene: ELOVL1 was added gene: ELOVL1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ELOVL1 were set to 29496980; 32123819; 30487246 Phenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527 Review for gene: ELOVL1 was set to GREEN gene: ELOVL1 was marked as current diagnostic Added comment: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity. Affected individuals have mild facial dysmorphism. Same two individuals reported in two publications. Both had the same variant, p.S165F, which arose de novo, suggesting the residue is important in pathogenesis. Mouse model. Sources: Expert list |
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Childhood onset hereditary spastic paraplegia v2.15 | CPT1C | Zornitza Stark reviewed gene: CPT1C: Rating: RED; Mode of pathogenicity: None; Publications: 25751282; Phenotypes: Spastic paraplegia 73, autosomal dominant, 616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.15 | AP5Z1 | Zornitza Stark reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26085577; Phenotypes: Spastic paraplegia 48, autosomal recessive, MIM# 613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.15 | ALDH3A2 |
Zornitza Stark gene: ALDH3A2 was added gene: ALDH3A2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 8528251; 29704247 Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, MIM#270200 Review for gene: ALDH3A2 was set to GREEN Added comment: Early-onset spastic paraparesis is a feature of the condition. >3 families reported with biallelic variants. Sources: Expert list |
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Childhood onset hereditary spastic paraplegia v2.15 | ATAD3A |
Ivone Leong gene: ATAD3A was added gene: ATAD3A was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Mode of inheritance for gene: ATAD3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATAD3A were set to 28158749 Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome, 617183 Review for gene: ATAD3A was set to RED Added comment: Added as a Red gene based on the available literature. There is only one case. PMID: 28158749 describes a family with monoallelic variant (c.1064 G>A, G355D) where affected mother and son do not have optic atrophy nor HCM but have hereditary spastic paraplegia. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v2.13 | SARS2 |
Sarah Leigh gene: SARS2 was added gene: SARS2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS2 were set to 21255763; 24034276; 27279129 Phenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845; Progressive Spastic Paresis Review for gene: SARS2 was set to AMBER Added comment: PMID 27279129 reports a child with progressive spastic paresis with a homozygous splicing variant (c.1347G>A (NM_017827.3)), which was shown in vitro to result in retention of intron 14 and premature chain termination, leading to diminished levels of the synthetase in patient's fibroblasts. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v2.12 | ARL6IP1 | Zornitza Stark reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 31272422, 30980493, 28471035; Phenotypes: Spastic paraplegia 61, autosomal recessive, MIM#615685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.11 | PCYT2 |
Rebecca Foulger gene: PCYT2 was added gene: PCYT2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT2 were set to 31637422 Phenotypes for gene: PCYT2 were set to Spastic paraplegia 82, autosomal recessive, 618770 Added comment: PMID:31637422. In 5 patients from 4 unrelated families with autosomal recessive spastic paraplegia-82 (MIM:618770), Vaz et al. (2019) identified homozygous or compound heterozygous mutations in the PCYT2 gene. The variants segregated with the disorder in all families. Functional studies showed reduced (not absent) PYCT2 activity. Sources: Literature |
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Childhood onset hereditary spastic paraplegia v2.6 | Ellen McDonagh List of related panels changed from Childhood onset hereditary spastic paraplegia; Childhood onset hereditary spastic paraplegia; R61 to Childhood onset hereditary spastic paraplegia; R61 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.5 | Ellen McDonagh List of related panels changed from Childhood onset hereditary spastic paraplegia; R61 to Childhood onset hereditary spastic paraplegia; Childhood onset hereditary spastic paraplegia; R61 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.3 | RNASEH2B | Louise Daugherty Phenotypes for gene: RNASEH2B were changed from hereditary spastic paraparesis to Aicardi-Goutieres syndrome 2, 610181; spastic paraparesis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.2 | RNASEH2B | Louise Daugherty Added comment: Comment on list classification: New Green rated gene added by reviewer after panel sign off to V1.0- to be reviewed at next panel update with the Neurology Test Group for GMS. The 100,000 Genomes Project has identified one case and recent publications have reported RNASEH2B variants in homozygous status in patients with spastic paraplegia. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.0 | RNASEH2B |
Zerin Hyder gene: RNASEH2B was added gene: RNASEH2B was added to Hereditary spastic paraplegia - childhood onset. Sources: Other Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2B were set to PMID:30223285, PMID:25243380, PMID:29691679 and PMID:28762473 Phenotypes for gene: RNASEH2B were set to hereditary spastic paraparesis Penetrance for gene: RNASEH2B were set to unknown Mode of pathogenicity for gene: RNASEH2B was set to Other Review for gene: RNASEH2B was set to GREEN Added comment: Above publications report the association of pure, childhood-onset spastic paraparesis in association with missense recessive variants in RNASEH2B. Sources: Other |
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Childhood onset hereditary spastic paraplegia v1.180 |
Louise Daugherty List of related panels changed from Childhood onset hereditary spastic paraplegia;R61 to Childhood onset hereditary spastic paraplegia; R61 Panel types changed to GMS Rare Disease Virtual; GMS signed-off |
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Childhood onset hereditary spastic paraplegia v1.179 | Louise Daugherty List of related panels changed from Childhood onset hereditary spastic paraplegia to Childhood onset hereditary spastic paraplegia;R61 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.167 | FXN |
Louise Daugherty gene: FXN was added gene: FXN was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXN were set to 8596916; 9150176; 9737785; 21830088 Phenotypes for gene: FXN were set to Friedreich ataxia, 229300 Review for gene: FXN was set to GREEN Added comment: New Green gene added and agreed from the GMS Neurology Specialist Test Group Webex on 17th May 2019. Single nucleotide variants can cause the disease (often compound het STR + SNV) Sources: Expert Review |
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Childhood onset hereditary spastic paraplegia v1.164 | SPAST | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.158 | ALS2 | Louise Daugherty Phenotypes for gene: ALS2 were changed from Spastic paralysis, infantile onset ascending, 607225 to Spastic paralysis, infantile onset ascending,autosomal recessive, 607225; Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.156 | AMPD2 | Louise Daugherty Phenotypes for gene: AMPD2 were changed from Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic) to ?Spastic paraplegia 63, 615686, AR; Pontocerebellar hypoplasia, type 9, 615809, AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.145 | C12orf65 | Louise Daugherty Phenotypes for gene: C12orf65 were changed from Spastic paraplegia 55, autosomal recessive, 615035 to Spastic paraplegia 55, autosomal recessive, 615035; optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy; Combined oxidative phosphorylation deficiency 7, 613559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.133 | KIDINS220 | Louise Daugherty Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.131 | KIF1A | Louise Daugherty Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive, 610357 to Spastic paraplegia 30, autosomal recessive, 610357; Mental retardation, autosomal dominant 9, 614255, AD; Neuropathy, hereditary sensory, type IIC, 614213 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.123 | NIPA1 | Louise Daugherty Phenotypes for gene: NIPA1 were changed from Spastic paraplegia 6,autosomal dominant, 600363 to Spastic paraplegia 6, autosomal dominant, 600363 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.113 | REEP2 | Louise Daugherty Phenotypes for gene: REEP2 were changed from ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625 to Spastic paraplegia 72, autosomal dominant,615625; Spastic paraplegia 72, autosomal recessive, 615625 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.107 | SPART | Louise Daugherty Phenotypes for gene: SPART were changed from Troyer syndrome, 275900 to Troyer syndrome, 275900; Spastic paraplegia 20 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.105 | SPAST | Louise Daugherty Publications for gene: SPAST were set to Hazan et al (1999) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.104 | SPAST | Louise Daugherty Phenotypes for gene: SPAST were changed from Spastic paraplegia 4, autosomal dominant to Spastic paraplegia 4, autosomal dominant, 182601 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.98 | VPS37A | Louise Daugherty Phenotypes for gene: VPS37A were changed from Spastic paraplegia 53, autosomal recessive to Spastic paraplegia 53, 614898, AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.94 | ARL6IP1 | Louise Daugherty Phenotypes for gene: ARL6IP1 were changed from to Spastic paraplegia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.92 | CDK16 | Louise Daugherty Phenotypes for gene: CDK16 were changed from Intellectual disability and spastic paraplegia to Intellectual disability and spastic paraplegia, x-linked | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.90 | ENTPD1 | Louise Daugherty Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia64,615683 to Spasticparaplegia 64, 615683 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.88 | GAD1 | Louise Daugherty Phenotypes for gene: GAD1 were changed from Cerebralpalsy,spasticquadriplegic,1,603513 to Cerebralpalsy, spasticquadriplegic, 1, 603513 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.86 | WDR48 | Louise Daugherty Phenotypes for gene: WDR48 were changed from to spastic paraplegia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.75 | SPAST | Louise Daugherty Source Yorkshire and North East GLH was added to SPAST. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.74 | SPAST | Nick Beauchamp reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.74 | SPAST | Louise Daugherty commented on gene: SPAST: 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 v1.71 | VPS37A |
Louise Daugherty commented on gene: VPS37A: Red rating on Hereditary spastic paraplegia panel 1.198 Comment when marking as ready: single founder Arab mutation further evidence required. A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. Zivony-Elboum Y1, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC. emma baple (Genomics England Curator), 10 May 2016. Submitted Red rating |
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Childhood onset hereditary spastic paraplegia v1.71 | VAMP1 |
Louise Daugherty commented on gene: VAMP1: Red rating on Hereditary spastic paraplegia panel 1.198 Added 'founder effect' tag based on Emma Baple's review of PMID:22958904. Rebecca Foulger (Genomics England curator), 24 Oct 2017 Comment on mode of inheritance: Monoallelic mode of inheritance supported by OMIM. Rebecca Foulger (Genomics England curator), 12 Oct 2017 Comment when marking as ready: Newfoundland founder mutation described. Further evidence required Bourassa, C. V., Meijer, I. A., Merner, N. D., Grewal, K. K., Stefanelli, M. G., Hodgkinson, K., Ives, E. J., Pryse-Phillips, W., Jog, M., Boycott, K., Grimes, D. A., Goobie, S., Leckey, R., Dion, P. A., Rouleau, G. A. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. Am. J. Hum. Genet. 91: 548-552, 2012 emma baple (Genomics England Curator), 10 May 2016 |
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Childhood onset hereditary spastic paraplegia v1.68 | TFG |
Louise Daugherty commented on gene: TFG: Amber rating on Hereditary spastic paraplegia panel 1.198 Beetz (2013, 23479643) Initial report. Exome study, 2 sibs with early-onset spastic paraplegia, optic atrophy, and neuropathy, with hom c.316C>T (p.R106C). In vitro defect shown in self-assembly. Harlalka (2016, 27492651) also described a c.317G>A (p.R106H) homozygous family, and proposed a founder origin for the c.316C>T variant, as well as a c.316_317 hotspot. further mt invitro studies supportive evidence. Elsayed (2016, 27601211) implicated TGF in one family; homozygous c.64C>T (p.(Arg22Trp) with HSP In Sheffield diagnostic HSP panel Chris Buxton (North Bristol NHS Trust), 27 Nov 2018 Comment when marking as ready: Single Indian family currently described in association with HSP emma baple (Genomics England Curator), 10 May 2016 |
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Childhood onset hereditary spastic paraplegia v1.68 | TECPR2 |
Louise Daugherty commented on gene: TECPR2: Red rating on Hereditary spastic paraplegia panel 1.198 Oz-Levi (2012, 23176824 ), ?founder fs deletion in Jewish Bukharian families with HSP-related phenotype. Some functional studies supporting an association. Zhu (2015, 25590979), different homozygous fs deletion. Pt had overlapping manifestations with SPG49. No functional studies. Currently included in Sheffield's HSP panel Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Submitted Amber rating. PMID:26542466 (2016) report 3 additional patients from unrelated non-Bukharian families, harboring two novel variants (c.1319delT, c.C566T) in TECPR2, suggesting that variants are not restricted to Bukharian origin. Rebecca Foulger (Genomics England curator), 31 Oct 2017 Comment when marking as ready: limited evidence founder Jewish mutation emma baple (Genomics England Curator), 10 May 2016 |
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Childhood onset hereditary spastic paraplegia v1.67 | SLC33A1 |
Louise Daugherty commented on gene: SLC33A1: Amber rating on Hereditary spastic paraplegia panel 1.198 helen kingston (CMFT NHS Foundation Trust, Manchester) 5 Nov 2017 Submitted Green review. Comment when marking as ready: Very clear association of autosomal recessive mutations with congenital cataracts, hearing loss, and neurodegeneration. Limited evidence currently for HSP emma baple (Genomics England Curator), 10 May 2016 A mutation in this gene has been described in one chinese family affected by pure HSP, showing autosomal dominant inheritance with reduced penetrance. A subsequent screen of 220 pure HSP patients of mostly caucasian origin failed to identify mutations with this gene. Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square), 13 Jan 2016. Submitted Amber rating |
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Childhood onset hereditary spastic paraplegia v1.66 | SLC25A46 |
Louise Daugherty commented on gene: SLC25A46: Green rating on Hereditary spastic paraplegia panel 1.198 Associated with phenotype in OMIM, not in G2P. At least 10 variants reported Sarah Leigh (Genomics England Curator), 15 Sep 2017 |
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Childhood onset hereditary spastic paraplegia v1.65 | REEP2 |
Louise Daugherty commented on gene: REEP2: Amber rating on Hereditary spastic paraplegia panel 1.198 Roda (2017, 28491902). de novo REEP2 missense (c.119T > G, p.Met40Arg) at a highly-conserved residue very close to another known pathogenic missense change. No functional studies. Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Submitted Amber rating. Comment on list classification: changed from red to amber based on upon two families Louise Daugherty (Genomics England Curator), 30 Nov 2017 Known to be a movement disorder associated gene. Associated with phenotype in OMIM. At least 3 variants reported in 2 large unrelated families, Autosomal dominant inheritance was reported in one family and autosomal recessive inheritance in another. Observed clinical phenotype includes difficulty in walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. Cognition, speech, and ocular function are normal (summary by Esteves et al., PMID:24388663) Louise Daugherty (Genomics England Curator), 27 Nov 2017 |
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Childhood onset hereditary spastic paraplegia v1.65 | PSEN1 |
Louise Daugherty commented on gene: PSEN1: Red rating on Hereditary spastic paraplegia panel 1.198. helen kingston (CMFT NHS Foundation Trust, Manchester) 5 Nov 2017 Submitted Green rating. Comment when marking as ready: Given the primary association is with dementia and this is gene is included on the associated panel we have excluded it here. emma baple (Genomics England Curator), 10 May 2016. Submitted Red rating. |
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Childhood onset hereditary spastic paraplegia v1.62 | MTPAP |
Louise Daugherty commented on gene: MTPAP: Amber rating on Hereditary spastic paraplegia panel 1.198 2 entries on HGMD Pro Crosby (2010, 20970105); variant proposed as cause of spastic paraplegia in Amish population as founder mutation. p.N478D: Slowly progressive autosomal-recessive neurodegenerative condition, the key features of which are cerebellar ataxia, spastic paraparesis, dysarthria, optic atrophy, learning difficulties. Functional studies showed loss of polyadenylation of mitochondrial transcripts Additional functional characterisation in Wilson (2014, 25008111) Al-Shamsi (2016, 27391121) Biparental, homozygous c.1468G > T (p.V490L). 2 sibs with developmental delay and regression at 8 months of age, central hypotonia, short stature, failure to thrive, cerebellar atrophy, absence-like episodes, and hip dislocation. Parents were heterozygous. no functional studies. Chris Buxton (North Bristol NHS Trust), 27 Nov 2018 Submitted Amber rating |
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Childhood onset hereditary spastic paraplegia v1.60 | MARS2 |
Louise Daugherty commented on gene: MARS2: Amber rating on Hereditary spastic paraplegia panel 1.198 Bayat (2012, 22448145) Approx 300b deletion /?duplication/rearrangement, Complex genomic MARS2 rearrangements identified in 54 affected French-Canadian cases belonging to 38 families with a mean age of onset of 24.4 (2–59). Lots of in vivo studies. No HGMD/Pubmed reports of MARS2 rearrangements since this paper, but probably inst being widely tested and if so, large rearrangements aren't particularly amenable to ngs Chris Buxton (North Bristol NHS Trust), 27 Nov 2018 Submitted Green review. helen kingston (CMFT NHS Foundation Trust, Manchester) Submitted Green review. |
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Childhood onset hereditary spastic paraplegia v1.60 | MAG |
Louise Daugherty commented on gene: MAG: Amber rating on Hereditary spastic paraplegia panel 1.198 Comment on list classification: Updated rating from Grey to Amber: Gene added and rated red by Chris Buxton (Bristol NHS) based on 1 family in PMID:24482476. One additional family reported in PMID:26179919 but require at least one further case for diagnostic rating. Rebecca Foulger (Genomics England curator), 18 Dec 2018 In 3 siblings with AR spastic paraplegia born of consanguineous Palestinian parents, Lossos et al. (2015, PMID:26179919) identified a homozygous c.399C-G transversion in the MAG gene (S133R). Rebecca Foulger (Genomics England curator), 18 Dec 2018 PMID:24482476 (Novarino et al 2014) identified MAG as a HSP candidate gene based on the HSPome (network analysis). In 2 affected sisters from a consanguineous family (family 1226) with AR spastic paraplegia-75, PMID:24482476 identified homozygosity for a c.1288T-G transversion in the MAG gene (C430G). Rebecca Foulger (Genomics England curator), 18 Dec 2018 1 family Novarino (2014, 24482476). Homozygous Cys430Gly with HSp phenotype. No other detail. 1 family. Limited evidence Diagnostic on Sheffield HSP panel Sources: Literature Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Submitted Red rating. |
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Childhood onset hereditary spastic paraplegia v1.59 | LYST |
Louise Daugherty edited their review of gene: LYST: Added comment: Amber rating on Hereditary spastic paraplegia panel 1.198 Comment on publications: PMIDs:25519960 and 25519961 are in Japanese. Rebecca Foulger (Genomics England curator), 8 Jan 2019 Comment on list classification: Updated rating from Red to Amber. Gene added to panel by Chris Buxton (Bristol NHS) based on one family in PMID:24521565. In addition, progressive spastic paraparesis seen in affected siblings in PMID:26307451, and PMIDs 25519960 and 25519961 describe LYST as a potential HSP locus. Further cases required for a diagnostic rating. Rebecca Foulger (Genomics England curator), 8 Jan 2019 PMID:26307451 (Desai et al 2016) report 3 affected siblings with the late-onset form of CHS, and phenotypes including progressive spastic paraparesis. Rebecca Foulger (Genomics England curator), 8 Jan 2019 PMID:24521565 (Shimazaki et al 2014) include 2 patients in a Japanese family with parents who are first cousins. They detected a homozygous missense variant (c.4189T>G, p.F1397V) in the LYST gene. The patients had adult Chediak-Higashi syndrome (CHS) presenting spastic paraplegia with cerebellar ataxia and neuropathy. Rebecca Foulger (Genomics England curator), 8 Jan 2019 Comment on list classification: This gene is awaiting curator evaluation and rating. Sarah Leigh (Genomics England Curator), 19 Dec 2018 Shimazaki (2014, 24521565), homozygous LYST (c.4189T>G, p.F1397V). Gene predominantly associated with Chediak-Higashi syndrome. one publication describing a HSP like phenotype. Diagnostic on Sheffield HSP panel Sources: Literature Chris Buxton (North Bristol NHS Trust), 28 Nov 2018; Changed publications: 25519960, 25519961, 24521565, 26307451, 25519960, 25519961 |
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Childhood onset hereditary spastic paraplegia v1.58 | KIF1C |
Louise Daugherty commented on gene: KIF1C: Amber rating on Hereditary spastic paraplegia panel 1.198 More familailes listed on OMIM (Nov 2018): In affected members of 2 unrelated families with SPAX2, Dor et al. (2014) identified 2 different homozygous mutations in the KIF1C gene (R731X, 603060.0001 and R169W, 603060.0002). The mutations were found using a combination of homozygosity mapping and whole-exome sequencing. Functional studies were not performed. In 2 consanguineous families with SPAX2, Novarino et al. (2014) identified homozygous mutations in the KIF1C gene: the R731X mutation previously identified by Dor et al. (2014) and a splice site mutation (603060.0003). Novarino et al. (2014) also identified a homozygous deletion of exons 14-18 of the KIF1C gene (603060.0004) in affected members of the Moroccan family with SPAX2 reported by Bouslam et al. (2007). Chris Buxton (North Bristol NHS Trust), 26 Nov 2018 Amber rating submitted One patient in Gel cohort found to have compound heterozygous VUS but uncertain significance. To review literature when panel next reviewed Alice Gardham (Genomics England), 19 Jan 2017 Comment when marking as ready: Still only limited evidence emma baple (Genomics England Curator), 10 May 2016 |
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Childhood onset hereditary spastic paraplegia v1.57 | KDM5C |
Louise Daugherty commented on gene: KDM5C: Amber rating on Hereditary spastic paraplegia panel 1.198 Comment on list classification: Updated rating from Red to Amber. Gene added to panel and rated Red by Chris Buxton (Bristol NHS). MIM:300534 is characterized by ID, progressive spastic paraplegia, short stature, microcephaly, and dysmorphic facial appearance. Chris Buxton reports 2 families from the literature (PMIDs10982473; 15586325; 26919706) with KDM5C variants and spastic paraplegia symptoms. Therefore Amber awaiting further cases. Rebecca Foulger (Genomics England curator), 8 Jan 2019 PMID:26919706 investigated a family of 3 boys with ID and among them identified two different variants in KDM5C: Two affected boys have c.633delG and the other has c.631delC. The boys presented with severe DD, progressive spasticity (predominantly in the lower limbs), epilepsy and subclinical hypothyroidism. The mother has two different frameshift mutations: a heterozygous germline mutation, c.631delC, and a low-prevalence somatic mutation, c.633delG. Rebecca Foulger (Genomics England curator), 8 Jan 2019 PMID:15586325 (Jensen 2005) identifed a L731F variant in 4 members of a family with X-linked complicated spastic paraplegia previously described by Claes et al (2000, PMID:10982473). Rebecca Foulger (Genomics England curator), 8 Jan 2019 Comment on list classification: This gene is awaiting curator evaluation and rating. Sarah Leigh (Genomics England Curator), 19 Dec 2018 Claes (2000, 10982473) reported candidate HSP locus Xp21.1-Xq21.3. Jensen (2005, 15586325) identified as JARID1C(syn)/KDM5C gene: c.2191C>T Leu731Phe. 4 males in same pedigree: two generations present with severe MR, slowly progressive spastic paraplegia, facial hypotonia, and maxillary hypoplasia. Additional features are aggressive behavior and strabismus; Fujita (2016, 26919706). Two different fs deletion variants. maternal reversion mechanims? Progressive spasticity component to phenotype. Currently diagnostic on Sheffield's HSP panel Sources: Literature Chris Buxton (North Bristol NHS Trust), 27 Nov 2018 Red rating submitted |
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Childhood onset hereditary spastic paraplegia v1.56 | IBA57 |
Louise Daugherty commented on gene: IBA57: Amber rating on Hereditary spastic paraplegia panel 1.198 Comment on list classification: Kept rating as Amber following clinical review by Helen Brittain, who notes that it is possible that the varied phenotypes are part of the spectrum of presentations within IBA57 regarding its mitochondrial function (the more commonly reported recessive phenotype of mitochondrial dysfunction encompasses spasticity in several patients). IBA57 is green on the 'Mitochondrial disorders' panel which is the better route for detecting this broader phenotype. Ideally, further cases with an understanding of the spectrum of pathogenic variants and detailed phenotypic information will help in being confident about inclusion on this HSP panel. Rebecca Foulger (Genomics England curator), 2 Mar 2019 Comment on list classification: Updated rating from Grey to Amber: Gene added and rated Red by Chris Buxton (Bristol NHS) based on 1 family in PMID:25609768. 2 additional families in PMID:30258207 (2018) but phenotype is variable and 2 Jewish brothers with same compound het variants have different symptoms. Therefore rated Amber awaiting clinical feedback. Rebecca Foulger (Genomics England curator), 18 Dec 2018 PMID:30258207 (Hamanaka et al, 2018) performed whole-exome sequencing in 2 unrelated families (Sepharadi Jewish and Japanese) with leukodystrophy. The 29-year-old Sepharadi Jewish male had clinically asymptomatic leukodystrophy. His 19-year-old younger brother, with the same compound heterozygous IBA57 variants, had a similar clinical course until 7 years of age when he developed a rapidly progressive spastic paraparesis following a febrile illness. A 7-year-old Japanese girl had developmental regression, spastic quadriplegia, and abnormal periventricular white matter. Therefore HSP symptoms amongst the individuals but phenotypes are very varied. Rebecca Foulger (Genomics England curator), 18 Dec 2018 In affected members of a large consanguineous Arab family with AR spastic paraplegia, Lossos et al. (2015, PMID:25609768) identified a homozygous splice site variant in IBA57. Rebecca Foulger (Genomics England curator), 18 Dec 2018 Lossos (2015, 25609768). Homozygous donor splice-site mutation in the IBA57. mRNA studies done, some protein studies support pathogenicity. 1 family, limited evidence. Sources: Literature Provided in Sheffield Lab diagnostic HSP panel Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Red rating submitted. |
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Childhood onset hereditary spastic paraplegia v1.55 | GJC2 |
Louise Daugherty commented on gene: GJC2: Red rating on Hereditary spastic paraplegia panel 1.198 Lots of accounts linking this gene with "Pelizaeus-Merzbacher-like" disorder. Needs more expert curation in case PLP is a ddx for HSP, but given that PLP1 isnt in HSP panel this looks unlikely Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Amber rating submitted. This gene is on the Hereditary Spastic Paraplagia (HSP) NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual: "GJC2 encodes a gap junction protein which plays a key role in central myelination and is involved in peripheral myelination in humans. Mutations in this gene have been associated with autosomal recessive Pelizaeus-Merzbacher-like disease-1 (SPG44)." It is a confirmed DD gene for spastic paraplegia 44, with monoallelic inheritance (OMIM states recessive inheritance). Ellen McDonagh (Genomics England Curator), 14 Jun 2016 Only a single family described with this phenotype, many more cases with the above phenotypes emma baple (Genomics England Curator), 7 Feb 2016 Red rating submitted |
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Childhood onset hereditary spastic paraplegia v1.54 | GCH1 |
Louise Daugherty commented on gene: GCH1: Amber rating on Hereditary spastic paraplegia panel 1.198 Comment on list classification: Kept rating as Amber following clinical review from Helen Brittain- Amber rating is appropriate for now, based upon the two cases and some phenotypic queries. Rebecca Foulger (Genomics England curator), 2 Mar 2019 Comment on mode of inheritance: Both literature cases (PMID:24509643; 21935284) are heterozygous, so have kept MOI as Monoallelic for now while gene is rated Amber. Note that OMIM displays AR and AD inheritance for Dystonia, DOPA-responsive, with or without hyperphenylalaninemia (MIM:128230). Rebecca Foulger (Genomics England curator), 28 Jan 2019 Comment on list classification: Updated rating from Grey to Amber awaiting feedback from clinical team. 2 literature cases of HSP phenotype in PMIDs:24509643,21935284 both of which involved previous misdiagnosis of DRD/cerebral palsy. Rebecca Foulger (Genomics England curator), 18 Dec 2018 PMID:21935284 (Lee et al. 2011) report a novel initiation codon mutation (c.1A>T; p.Met1Leu) in GCH1 in a patient with dopa-responsive dystonia (DRD) that had previously been mis-diagnosed as cerbral palsy. Rebecca Foulger (Genomics England curator), 18 Dec 2018 PMID:24509643 (Fan et al 2014) identified a heterozygous GCH1 variant (R216X) by WES in a patient presenting with progressive spastic paraplegia. The R216X variant had been previously reported as causal for dopa-responsive dystonia (MIM:128230), a phenotype that can resemble HSP. Rebecca Foulger (Genomics England curator), 18 Dec 2018 Fan (2014, 24509643) het for nonsense variant previously associated with dopa-responsive dystonia. Authors observe that Dopa-responsive Dystonia can resemble HSP Lee (2011, 21935284), another example of DRD misdiagnosed as Cerebral palsy with GCH1 c.1A>T; p.Met1Leu missense Diagnostic on Sheffield HSP panel Sources: Literature Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Green rating submitted. |
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Childhood onset hereditary spastic paraplegia v1.52 | DSTYK |
Louise Daugherty commented on gene: DSTYK: Red rating on Hereditary spastic paraplegia panel 1.198 Added 'Founder effect' tag based on haplotype analysis in Lee et al. (2017, PMID:28157540) which indicates a founder effect- the same deletion/insertion was identified in 3 unrelated families. At the time of curation, PMID:28157540 provides all evidence for the disease:gene association. Rebecca Foulger (Genomics England curator), 11 May 2017 In affected members of 3 unrelated families of Middle Eastern descent with spastic paraplegia-23 (MIM:270750) Lee et al. (2017, PMID:28157540) identified a homozygous intragenic deletion/insertion in the DSTYK gene. The deletion segregated with the disorder in all 3 families. Haplotype analysis indicated a founder effect. The deletion insertion consisted of a 4-kb deletion associated with a 20-bp insertion, resulting in the removal of the last 2 exons of DSTYK (exons 12 and 13) along with part of the 3-prime untranslated region. Rebecca Foulger (Genomics England curator), 11 May 2017 |
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Childhood onset hereditary spastic paraplegia v1.52 | DARS |
Louise Daugherty commented on gene: DARS: Comment on list classification: Updated rating from Red to Amber to match expert review and literature evidence. Added to panel and rated Amber by Chris Buxton (Bristol NHS). 2 patients in PMID:25527264 with onset in late adolescence who presented with subacute spastic paraplegia. Rebecca Foulger (Genomics England curator), 8 Jan 2019 Wolf (2015, 25527264) report 3 patients with variants in DARS. One patient had typical infantile presentation but 2 patients with onset in late adolescence presented with subacute spastic paraplegia. Patient 1 was compound heterozygous for c.599C>G; p.Ser200Cys and c.830C>T; p.Ser277Phe. Patient 2 was homozygous for c.1277T>C; p.Leu426Ser, and patient 3 compound heterozygous for c.839A>T; p.His280Leu and c.1099G>C; p.Asp367His. Rebecca Foulger (Genomics England curator), 8 Jan 2019 Amber rating on Hereditary spastic paraplegia panel 1.198 Comment on list classification: This gene is awaiting curator evaluation and rating. Sarah Leigh (Genomics England Curator), 19 Dec 2018 HGMD: 15 missense, 1 ins associated with: Hypomyelination with brain stem and spinal cord involvement and leg spasticity: An autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation Taft (2013, 23643384) identiofied compound-heterozygous and homozygous DARS missense variants in 7 unrelated families with severe lower limb spasticity associated with leukoencephalopathy Phenotype expanded by Wolf (2015, 25527264) to later onset and subacute spastic paraplegia. Sources: Literature Chris Buxton (North Bristol NHS Trust), 28 Nov 2018 |
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Childhood onset hereditary spastic paraplegia v1.51 | CDK16 |
Louise Daugherty commented on gene: CDK16: Amber rating on Hereditary spastic paraplegia panel 1.198 Not associated with phenotype in OMIM and as a possible G2P. At least 1 truncating variant identified in 4 affected members of a family with ID and spastic paraplegia, also present in 3 obligate female carriers but not in one unaffected male. Sarah Leigh (Genomics England Curator), 19 Dec 2017 |
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Childhood onset hereditary spastic paraplegia v1.51 | AP5Z1 |
Louise Daugherty commented on gene: AP5Z1: Rated Red on Hereditary spastic paraplegia panel 1.198. Amber rating : Hirst et al 2016 (4 families) since PanelApp review (2016) Chris Buxton (North Bristol NHS Trust), 26 Nov 2018 Red rating: Only one family described to date, further evidence required. emma baple (Genomics England Curator), 7 Feb 2016 |
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Childhood onset hereditary spastic paraplegia v1.50 | AMPD2 |
Louise Daugherty edited their review of gene: AMPD2: Added comment: Red rating on Hereditary spastic paraplegia panel 1.198 nonsense variant in single family in exome study. Low evidence Chris Buxton (North Bristol NHS Trust), 27 Nov 2018 Comment when marking as ready: Single family only - more evidence required emma baple (Genomics England Curator), 8 Feb 2016; Changed rating: RED |
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Childhood onset hereditary spastic paraplegia v1.49 | UBAP1 |
Louise Daugherty gene: UBAP1 was added gene: UBAP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Mode of inheritance for gene: UBAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBAP1 were set to 30929741 Phenotypes for gene: UBAP1 were set to Hereditary spastic paraplegia Review for gene: UBAP1 was set to GREEN Added comment: From PMID:30929741: reported the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1. They identified pathological truncating variants in UBAP1 in affected persons from Iran, USA, Germany, Canada, Spain, and Bulgarian Roma. The genetic support ranges from linkage in the largest family (LOD = 8.3) to three confirmed de novo mutations. They also showed that mRNA in the fibroblasts of affected individuals escapes nonsense-mediated decay and thus leads to the expression of truncated proteins; in addition, concentrations of the full-length protein are reduced in comparison to those in controls. Sources: Literature Sources: Literature |
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Childhood onset hereditary spastic paraplegia v1.48 | SPAST | Louise Daugherty reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.38 | UCHL1 | Louise Daugherty Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive, 615491, AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.35 | TFG | Louise Daugherty Phenotypes for gene: TFG were changed from to ?Spastic paraplegia 57, autosomal recessive, 615658, AR; Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.31 | SLC33A1 | Louise Daugherty Phenotypes for gene: SLC33A1 were changed from Spastic paraplegia 42, autosomal dominant, to Congenital cataracts, hearing loss, and neurodegeneration, 614482, AR; Spastic paraplegia 42, autosomal dominant | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.27 | MTPAP | Louise Daugherty Phenotypes for gene: MTPAP were changed from Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive to Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive; ?Spastic ataxia 4, autosomal recessive, 613672 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.25 | MARS2 | Louise Daugherty Phenotypes for gene: MARS2 were changed from Spastic ataxia 3, autosomal recessive to Spastic ataxia 3, autosomal recessive, 611390 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.23 | KIF1C | Louise Daugherty Phenotypes for gene: KIF1C were changed from Spastic ataxia 2,autosomal recessive to Spastic ataxia 2, autosomal recessive, 611302 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.21 | KCNA2 | Louise Daugherty Phenotypes for gene: KCNA2 were changed from to hereditary spastic paraplegia and ataxia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.19 | GJC2 | Louise Daugherty Phenotypes for gene: GJC2 were changed from Spastic paraplegia 44, autosomal recessive to Spastic paraplegia 44, autosomal recessive; Leukodystrophy, hypomyelinating,2, 608804, AR; Spastic paraplegia 44, autosomal recessive, 613206, AR; Lymphatic malformation 3, 613480, AD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.15 | DSTYK | Louise Daugherty Phenotypes for gene: DSTYK were changed from Spastic paraplegia 23, 270750 to Spastic paraplegia 23, 270750; ongenital anomalies of kidney and urinary tract 1, 610805, AD; Spastic paraplegia 23, 270750, AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.12 | CPT1C | Louise Daugherty Phenotypes for gene: CPT1C were changed from to ?Spastic paraplegia 73, autosomal dominant, 616282, AD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | ZFYVE26 | James Polke reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive, 270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | WDR45B | James Polke reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations, Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | WASHC5 | James Polke reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | VPS37A | James Polke reviewed gene: VPS37A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 53, autosomal recessive 614898, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | VAMP1 | James Polke reviewed gene: VAMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | UCHL1 | James Polke reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 79, autosomal recessive, 615491, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | TFG | James Polke reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 57, autosomal recessive, 615658, AR, Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | TECPR2 | James Polke reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 49, autosomal recessive, 615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | SPG7 | James Polke reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 7, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | SPG21 | James Polke reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, Recessive -Mast syndrome, 248900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | SPG11 | James Polke reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 11, autosomal recessive, 604360, Amyotrophic lateral sclerosis 5, juvenile, 602099, AR, Charcot-Marie-Tooth disease, axonal, type 2X 616668, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | SPAST | James Polke reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 4, autosomal dominant, 182601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | SPART | James Polke reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 20, autosomal recessive, Troyer syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | SLC33A1 | James Polke reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, 614482, AR, Spastic paraplegia 42, autosomal dominant 612539, AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | SLC1A4 | James Polke reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | SACS | James Polke reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, 270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | RTN2 | James Polke reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 12, autosomal dominant, 604805; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | REEP2 | James Polke reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 72, autosomal recessive, 615625, ?Spastic paraplegia 72, autosomal dominant, 615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | REEP1 | James Polke reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 31, autosomal dominant, 610250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | PSEN1 | James Polke reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | PNPLA6 | James Polke reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 39, autosomal recessive, 612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | PLP1 | James Polke reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 2, X-linked recessive, 312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | NT5C2 | James Polke reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 45, autosomal recessive, 613162, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | NKX6-2 | James Polke reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | NIPA1 | James Polke reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | MTPAP | James Polke reviewed gene: MTPAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic ataxia 4, autosomal recessive, 613672; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | MARS2 | James Polke reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 3, autosomal recessive, 611390; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | LYST | James Polke reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: spastic paraplegia, Chediak-Higashi syndrome, 214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | L1CAM | James Polke reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-linked hydrocephalus, 307000, MASA syndrome 303350, Hereditary spastic paraplegia, 308840; Mode of inheritance: X-LINKED recessive: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | KIF5A | James Polke reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | KIF1C | James Polke reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 2, autosomal recessive, 611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | KIF1A | James Polke reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 30, autosomal recessive, 610357, Mental retardation, autosomal dominant 9, 614255, AD, Neuropathy, hereditary sensory, type IIC, 614213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | KIDINS220 | James Polke reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | KDM5C | James Polke reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534, Intellectual disability, developmental delay, progressive spasticity, epilepsy, hypothyroidism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | KCNA2 | James Polke reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: hereditary spastic paraplegia and ataxia; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | IBA57 | James Polke reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | HSPD1 | James Polke reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280, Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | HACE1 | James Polke reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, psychomotor retardation, seizure, Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | GJC2 | James Polke reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating,2, 608804, AR, Spastic paraplegia 44, autosomal recessive, 613206, AR, Lymphatic malformation 3, 613480, AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | GCH1 | James Polke reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Spastic paraplegia, progressive spastic paraplegia, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | GBA2 | James Polke reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | FARS2 | James Polke reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 77, autosomal recessive, 617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | FA2H | James Polke reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 35, autosomal recessive, 611026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | ERLIN2 | James Polke reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 18, autosomal recessive, 611225, Spastic paraplegia, autosomal dominant, hereditary spastic paraplegia, neurodegeneration; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | ERLIN1 | James Polke reviewed gene: ERLIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | DSTYK | James Polke reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital anomalies of kidney and urinary tract 1, 610805, AD, Spastic paraplegia 23, 270750, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | DDHD2 | James Polke reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 54, autosomal recessive, 615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | DDHD1 | James Polke reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 28, autosomal recessive, 609340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | DARS | James Polke reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Brain stem and spinal cord Hypomyelination, leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | CYP7B1 | James Polke reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 5A, autosomal recessive, 270800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | CYP2U1 | James Polke reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 56, autosomal recessive, 615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | CYP27A1 | James Polke reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | CPT1C | James Polke reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 73, autosomal dominant, 616282, AD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | CDK16 | James Polke reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual disability and spastic paraplegia, x-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | CAPN1 | James Polke reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 76 autosomal recessive, 616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | C19orf12 | James Polke reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 43, autosomal recessive, 615043, Neurodegeneration with brain iron accumulation 4, 614298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | C12orf65 | James Polke reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 55,autosomal recessive,615035, optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy, Combined oxidative phosphorylation deficiency 7, 613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | BSCL2 | James Polke reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Silver spastic paraplegia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | B4GALNT1 | James Polke reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 26, autosomal recessive, 609195; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | ATP13A2 | James Polke reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia, Kufor-Rakeb syndrome, 606693 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | ATL1 | James Polke reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, 182600, autosomal dominant, Spastic Paraplegia, Dominant, Neuropathy, hereditary sensory, type ID, 613708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.6 | AP5Z1 | James Polke reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 48, autosomal recessive 613647, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | AP4S1 | James Polke reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 52, autosomal recessive, 614067, developmental delay, seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | AP4M1 | James Polke reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive, 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | AP4E1 | James Polke reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive, 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | AP4B1 | James Polke reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive, 614066 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | AMPD2 | James Polke reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 63, 615686, AR, Pontocerebellar hypoplasia, type 9, 615809, AR ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | ALS2 | James Polke reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paralysis, infantile onset ascending,autosomal recessive, 607225, Primary lateral sclerosis, juvenile, autosomal recessive, 606353, Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | ALDH18A1 | James Polke reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 9A, autosomal dominant 601162, Spastic paraplegia 9B, autosomal recessive 616586, Cutis laxa, autosomal dominant 3 616603, Cutis laxa, autosomal recessive, type IIIA 219150 , ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, SPG9; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | AFG3L2 | James Polke reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, spastic, 5, autosomal recessive, Spastic ataxia 5, autosomal recessive. Spinocerebellar ataxia 28, autosomal dominant, 610246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | ABCD1 | James Polke reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, adrenal failure, VLCFA accumulation, spastic paraparesis, Adrenoleukodystrophy, 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.5 | SPAST | Louise Daugherty Source NHS GMS was added to SPAST. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.4 | UCHL1 |
Louise Daugherty gene: UCHL1 was added gene: UCHL1 was added to Hereditary spastic paraplegia - childhood onset. Sources: London North GLH Mode of inheritance for gene: UCHL1 was set to |
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Childhood onset hereditary spastic paraplegia v1.4 | SPAST | Louise Daugherty Source London North GLH was added to SPAST. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.4 | KCNA2 |
Louise Daugherty gene: KCNA2 was added gene: KCNA2 was added to Hereditary spastic paraplegia - childhood onset. Sources: London North GLH Mode of inheritance for gene: KCNA2 was set to |
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Childhood onset hereditary spastic paraplegia v1.4 | CPT1C |
Louise Daugherty gene: CPT1C was added gene: CPT1C was added to Hereditary spastic paraplegia - childhood onset. Sources: London North GLH Mode of inheritance for gene: CPT1C was set to |
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Childhood onset hereditary spastic paraplegia v1.3 | ZFYVE27 | Louise Daugherty Added phenotypes Spastic paraplegia 33, autosomal dominant for gene: ZFYVE27 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | VPS37A | Louise Daugherty Added phenotypes Spastic paraplegia 53, autosomal recessive for gene: VPS37A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | VAMP1 | Louise Daugherty Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | TECPR2 | Louise Daugherty Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | SLC33A1 | Louise Daugherty Added phenotypes Spastic paraplegia 42, autosomal dominant, for gene: SLC33A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | RAB3GAP2 | Louise Daugherty Added phenotypes spastic paraplegia for gene: RAB3GAP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | PSEN1 | Louise Daugherty Added phenotypes Alzheimer disease, type 3, with spastic paraparesis and apraxia; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques for gene: PSEN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | MTPAP | Louise Daugherty Added phenotypes Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive for gene: MTPAP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | MARS2 | Louise Daugherty Added phenotypes Spastic ataxia 3, autosomal recessive for gene: MARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | KLC4 | Louise Daugherty Added phenotypes spastic paraplegia; progressive complicated spastic paraplegia for gene: KLC4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | KIF1C |
Louise Daugherty Added phenotypes Spastic ataxia 2,autosomal recessive for gene: KIF1C Publications for gene KIF1C were changed from 17273843; 24482476; 24319291 to 24482476; 17273843; 24319291 |
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Childhood onset hereditary spastic paraplegia v1.3 | GJC2 | Louise Daugherty Added phenotypes Spastic paraplegia 44, autosomal recessive for gene: GJC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | GAD1 | Louise Daugherty Added phenotypes Cerebralpalsy,spasticquadriplegic,1,603513 for gene: GAD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | ENTPD1 | Louise Daugherty Added phenotypes Spasticparaplegia64,615683 for gene: ENTPD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | DSTYK | Louise Daugherty Added phenotypes Spastic paraplegia 23, 270750 for gene: DSTYK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | CCT5 | Louise Daugherty Added phenotypes Sensory Neuropathy with Spastic Paraplegia; Neuropathy, hereditary sensory, with spastic paraplegia for gene: CCT5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | AP5Z1 | Louise Daugherty Added phenotypes Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive for gene: AP5Z1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | AMPD2 | Louise Daugherty Added phenotypes Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic) for gene: AMPD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | REEP2 | Louise Daugherty Added phenotypes ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: REEP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | MAG |
Louise Daugherty Added phenotypes Spastic paraplegia 75, autosomal recessive, 616680 for gene: MAG Publications for gene MAG were changed from 24482476; 26179919 to 26179919; 24482476 |
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Childhood onset hereditary spastic paraplegia v1.3 | LYST |
Louise Daugherty Added phenotypes spastic paraplegia; Chediak-Higashi syndrome, 214500 for gene: LYST Publications for gene LYST were changed from 24521565; 26307451; 25519960; 25519961 to 24521565; 26307451; 25519961; 25519960 |
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Childhood onset hereditary spastic paraplegia v1.3 | KDM5C |
Louise Daugherty Added phenotypes Intellectual disability; developmental delay; epilepsy; progressive spasticity; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; hypothyroidism for gene: KDM5C Publications for gene KDM5C were changed from 26919706; 15586325; 10982473 to 10982473; 26919706; 15586325 |
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Childhood onset hereditary spastic paraplegia v1.3 | IBA57 | Louise Daugherty Added phenotypes ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | HSPD1 | Louise Daugherty Added phenotypes Spastic paraplegia 13, autosomal dominant, 605280 for gene: HSPD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | GCH1 |
Louise Daugherty Added phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dystonia; progressive spastic paraplegia; Spastic paraplegia for gene: GCH1 Publications for gene GCH1 were changed from 21935284; 24509643 to 24509643; 21935284 |
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Childhood onset hereditary spastic paraplegia v1.3 | DARS |
Louise Daugherty Added phenotypes leg spasticity; Brain stem and spinal cord Hypomyelination; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS Publications for gene DARS were changed from 25527264; 23643384 to 23643384; 25527264 |
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Childhood onset hereditary spastic paraplegia v1.3 | CDK16 | Louise Daugherty Added phenotypes Intellectual disability and spastic paraplegia for gene: CDK16 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | CAPN1 | Louise Daugherty Added phenotypes Spastic paraplegia 76 autosomal recessive, 616907 for gene: CAPN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | SLC2A1 |
Louise Daugherty Added phenotypes spastic paraplegia; seizure; Dystonia 9, 601042; Developmental delay; paroxysmal choreoathetosis for gene: SLC2A1 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood onset hereditary spastic paraplegia v1.3 | NT5C2 |
Louise Daugherty Added phenotypes Spastic paraplegia 45, autosomal recessive, 613162 for gene: NT5C2 Publications for gene NT5C2 were changed from 29123918; 28884889; 24482476; 28327087 to 28327087; 28884889; 24482476; 29123918 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood onset hereditary spastic paraplegia v1.3 | HACE1 |
Louise Daugherty Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Spastic paraplegia; seizure; psychomotor retardation for gene: HACE1 Publications for gene HACE1 were changed from 26437029; 26424145 to 26424145; 26437029 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood onset hereditary spastic paraplegia v1.3 | ERLIN1 |
Louise Daugherty Added phenotypes Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 for gene: ERLIN1 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood onset hereditary spastic paraplegia v1.3 | CYP27A1 |
Louise Daugherty Added phenotypes Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness for gene: CYP27A1 Publications for gene CYP27A1 were changed from 25862734; 26874936; 28623566; 27455001; 29321515 to 25862734; 27455001; 26874936; 29321515; 28623566 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood onset hereditary spastic paraplegia v1.3 | ATP13A2 |
Louise Daugherty Added phenotypes Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia for gene: ATP13A2 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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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 v1.3 | ABCD1 |
Louise Daugherty Added phenotypes spastic paraparesis; VLCFA accumulation; adrenal failure; Hereditary spastic paraplegia for gene: ABCD1 Publications for gene ABCD1 were changed from 11810273; 27084228; 11739809; 26049658; 23664929 to 23664929; 11739809; 26049658; 27084228; 11810273 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood onset hereditary spastic paraplegia v1.3 | ZFYVE26 | Louise Daugherty Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | WDR45B | Louise Daugherty Added phenotypes profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.; Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | WASHC5 | Louise Daugherty Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563 for gene: WASHC5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | SPG7 | Louise Daugherty Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | SPG21 | Louise Daugherty Added phenotypes Spastic Paraplegia, Recessive; Mast syndrome, 248900 for gene: SPG21 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | SPG11 |
Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360 for gene: SPG11 Publications for gene SPG11 were changed from 17322883; 16699786 to 16699786; 17322883 |
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Childhood onset hereditary spastic paraplegia v1.3 | SPAST | Louise Daugherty Added phenotypes Spastic paraplegia 4, autosomal dominant for gene: SPAST | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | SLC1A4 |
Louise Daugherty Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4 Publications for gene SLC1A4 were changed from 25930971; 26041762; 29989513; 26138499; 27193218 to 26138499; 25930971; 26041762; 27193218; 29989513 |
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Childhood onset hereditary spastic paraplegia v1.3 | SACS | Louise Daugherty Added phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 for gene: SACS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | RTN2 | Louise Daugherty Added phenotypes Spastic paraplegia 12, autosomal dominant, 604805 for gene: RTN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | REEP1 | Louise Daugherty Added phenotypes Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | PNPLA6 | Louise Daugherty Added phenotypes Spastic paraplegia 39, autosomal recessive, 612020 for gene: PNPLA6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | PLP1 | Louise Daugherty Added phenotypes Spastic paraplegia 2, X-linked, 312920 for gene: PLP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | NKX6-2 | Louise Daugherty Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | NIPA1 |
Louise Daugherty Added phenotypes Spastic paraplegia 6,autosomal dominant, 600363 for gene: NIPA1 Publications for gene NIPA1 were changed from 14508710; 15711826 to 15711826; 14508710 |
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Childhood onset hereditary spastic paraplegia v1.3 | L1CAM | Louise Daugherty Added phenotypes Hereditary spastic paraplegia; X-linked hydrocephalus, MASA syndrome, 303350 for gene: L1CAM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | KIF5A | Louise Daugherty Added phenotypes Spastic paraplegia 10, autosomal dominant, 604187 for gene: KIF5A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | KIF1A | Louise Daugherty Added phenotypes Spastic paraplegia 30, autosomal recessive, 610357 for gene: KIF1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | KIDINS220 | Louise Daugherty Added phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296 for gene: KIDINS220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | GBA2 | Louise Daugherty Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | FARS2 |
Louise Daugherty Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046 for gene: FARS2 Publications for gene FARS2 were changed from 29126765; 26553276; 25851414; 30250868 to 26553276; 30250868; 25851414; 29126765 |
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Childhood onset hereditary spastic paraplegia v1.3 | FA2H | Louise Daugherty Added phenotypes Spastic paraplegia 35, autosomal recessive, 612319 for gene: FA2H | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | ERLIN2 |
Louise Daugherty Added phenotypes Spastic paraplegia, autosomal dominant; Spastic paraplegia 18, autosomal recessive, 611225; hereditary spastic paraplegia; neurodegeneration for gene: ERLIN2 Publications for gene ERLIN2 were changed from 27824013; 23085305; 21330303; 23109142; 28832565; 23897027; 22554690; 25977983; 23109145; 21796390; 29528531 to 23109145; 22554690; 23085305; 27824013; 29528531; 23109142; 28832565; 21330303; 23897027; 21796390; 25977983 |
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Childhood onset hereditary spastic paraplegia v1.3 | DDHD2 | Louise Daugherty Added phenotypes Spastic paraplegia 54, autosomal recessive, 615033 for gene: DDHD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | DDHD1 | Louise Daugherty Added phenotypes Spastic paraplegia 28, autosomal recessive, 609340 for gene: DDHD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | CYP7B1 | Louise Daugherty Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800 for gene: CYP7B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | CYP2U1 | Louise Daugherty Added phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | C19orf12 | Louise Daugherty Added phenotypes Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | C12orf65 | Louise Daugherty Added phenotypes Spastic paraplegia 55, autosomal recessive, 615035 for gene: C12orf65 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | BSCL2 |
Louise Daugherty Added phenotypes Silver spastic paraplegia syndrome, 270685 for gene: BSCL2 Publications for gene BSCL2 were changed from 14981520; 13680364 to 13680364; 14981520 |
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Childhood onset hereditary spastic paraplegia v1.3 | B4GALNT1 | Louise Daugherty Added phenotypes Spastic paraplegia 26, autosomal recessive, 609195 for gene: B4GALNT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | ATL1 | Louise Daugherty Added phenotypes Spastic paraplegia 3A, autosomal dominant,182600; Spastic Paraplegia, Dominant for gene: ATL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | AP4S1 | Louise Daugherty Added phenotypes developmental delay; seizures; Spastic paraplegia 52, autosomal recessive, 614067 for gene: AP4S1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | AP4M1 | Louise Daugherty Added phenotypes Spastic paraplegia 50, autosomal recessive, 612936 for gene: AP4M1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | AP4E1 | Louise Daugherty Added phenotypes Spastic paraplegia 51, autosomal recessive, 613744 for gene: AP4E1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | AP4B1 | Louise Daugherty Added phenotypes Spastic paraplegia 47, autosomal recessive, 614066 for gene: AP4B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | ALS2 | Louise Daugherty Added phenotypes Spastic paralysis, infantile onset ascending, 607225 for gene: ALS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | ALDH18A1 | Louise Daugherty Added phenotypes Spastic paraplegia 9B, autosomal recessive, 616586; SPG9; Spastic paraplegia 9A, autosomal dominant, 601162; ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3 for gene: ALDH18A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | AFG3L2 | Louise Daugherty Added phenotypes Ataxia, spastic, 5, autosomal recessive; Spastic ataxia 5, autosomal recessive, 614487 for gene: AFG3L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.2 | NT5C2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green; rating was updated from Red to Green on the 'Hereditary spastic paraplegia' panel after curation from Sarah Leigh and advice from Helen Brittain. Plus literature confirms a childhood onset of HSP: In PMID:28884889, 3 family members developed HSP symptoms at under 1 year. In PMID:28327087, two brothers from a Consanguineous Qatari family age 9 and 3 years with complex HSP had an early-onset phenotype. PMID:29123918 describe an infantile-onset form of recessive HSP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.1 | NT5C2 | Rebecca Foulger Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive 613162 to Spastic paraplegia 45, autosomal recessive, 613162 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.0 | SPAST | Arianna Tucci reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.145 | SLC2A1 | Louise Daugherty Phenotypes for gene: SLC2A1 were changed from paroxysmal choreoathetosis; spastic paraplegia; seizure; Developmental delay to Dystonia 9, 601042; paroxysmal choreoathetosis; spastic paraplegia; seizure; Developmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.143 | HACE1 | Louise Daugherty Phenotypes for gene: HACE1 were changed from psychomotor retardation; Spastic paraplegia; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756 to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; psychomotor retardation; Spastic paraplegia; seizure | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.141 | ZFYVE26 | Louise Daugherty Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia 15, autosomal recessive to Spastic paraplegia 15, autosomal recessive, 270700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.140 | WDR45B | Louise Daugherty Phenotypes for gene: WDR45B were changed from profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977; profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.138 | WASHC5 | Louise Daugherty Phenotypes for gene: WASHC5 were changed from Spastic paraplegia 8, autosomal dominant to Spastic paraplegia 8, autosomal dominant, 603563 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.136 | SPG7 | Louise Daugherty Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive to Spastic paraplegia 7, autosomal recessive, 607259 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.134 | SPG21 | Louise Daugherty Phenotypes for gene: SPG21 were changed from Spastic Paraplegia, Recessive to Spastic Paraplegia, Recessive; Mast syndrome, 248900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.132 | SPG11 | Louise Daugherty Phenotypes for gene: SPG11 were changed from Spastic paraplegia 11, autosomal recessive to Spastic paraplegia 11, autosomal recessive, 604360 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.126 | SACS | Louise Daugherty Phenotypes for gene: SACS were changed from Spastic ataxia, Charlevoix-Saguenay type to Spastic ataxia, Charlevoix-Saguenay type, 270550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.124 | RTN2 | Louise Daugherty Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant to Spastic paraplegia 12, autosomal dominant, 604805 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.123 | REEP1 | Louise Daugherty Phenotypes for gene: REEP1 were changed from Spastic paraplegia 31, autosomal dominant to Spastic paraplegia 31, autosomal dominant, 610250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.119 | PNPLA6 | Louise Daugherty Phenotypes for gene: PNPLA6 were changed from Spastic paraplegia 39, autosomal recessive to Spastic paraplegia 39, autosomal recessive, 612020 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.117 | PLP1 | Louise Daugherty Phenotypes for gene: PLP1 were changed from Spastic paraplegia 2, X-linked to Spastic paraplegia 2, X-linked, 312920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.116 | NIPA1 | Louise Daugherty Phenotypes for gene: NIPA1 were changed from Spasticparaplegia6,autosomaldominant,600363; Spastic paraplegia 6, autosomal dominant to Spastic paraplegia 6,autosomal dominant, 600363 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.114 | L1CAM | Louise Daugherty Phenotypes for gene: L1CAM were changed from X-linked hydrocephalus, MASA syndrome,303350; Hereditary spastic paraplegia to X-linked hydrocephalus, MASA syndrome, 303350; Hereditary spastic paraplegia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.113 | L1CAM | Louise Daugherty Phenotypes for gene: L1CAM were changed from X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia to X-linked hydrocephalus, MASA syndrome,303350; Hereditary spastic paraplegia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.110 | KIF5A | Louise Daugherty Phenotypes for gene: KIF5A were changed from Spastic paraplegia 10, autosomal dominant to Spastic paraplegia 10, autosomal dominant, 604187 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.107 | KIF1A | Louise Daugherty Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive to Spastic paraplegia 30, autosomal recessive, 610357 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.105 | HSPD1 | Louise Daugherty Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant; 605280 to Spastic paraplegia 13, autosomal dominant, 605280 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.104 | HSPD1 | Louise Daugherty Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant to Spastic paraplegia 13, autosomal dominant; 605280 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.100 | FA2H | Louise Daugherty Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive to Spastic paraplegia 35, autosomal recessive, 612319 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.99 | DDHD2 | Louise Daugherty Phenotypes for gene: DDHD2 were changed from Spastic paraplegia 54, autosomal recessive to Spastic paraplegia 54, autosomal recessive, 615033 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.96 | DDHD1 | Louise Daugherty Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive, 23176821 to Spastic paraplegia 28, autosomal recessive, 609340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.95 | DDHD1 | Louise Daugherty Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive to Spastic paraplegia 28, autosomal recessive, 23176821 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.94 | CYP7B1 | Louise Daugherty Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive to Spastic paraplegia 5A, autosomal recessive, 270800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.91 | CYP2U1 | Louise Daugherty Phenotypes for gene: CYP2U1 were changed from Spastic paraplegia 56, autosomal recessive to Spastic paraplegia 56, autosomal recessive, 615030 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.88 | C19orf12 | Louise Daugherty Phenotypes for gene: C19orf12 were changed from Neurodegeneration with brain iron accumulation 4, 614298 to Neurodegeneration with brain iron accumulation 4, 614298; Spastic paraplegia 43, autosomal recessive, 615043 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.83 | C12orf65 | Louise Daugherty Phenotypes for gene: C12orf65 were changed from Spasticparaplegia55,autosomalrecessive,615035 to Spastic paraplegia 55, autosomal recessive, 615035 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.82 | SLC2A1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from biallelic to monoallelic as agreed with Arianna. Although Biallelic MOI is suggested by the Reviewer Chris Buxton on the Hereditary spastic paraplegia panel, PMIDs:27725288, 11136715 and 21832227 show autosomal dominant inheritance for the GLUT1 deficiency (including HSP phenotype). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.80 | BSCL2 | Louise Daugherty Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, to Silver spastic paraplegia syndrome, 270685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.79 | SLC2A1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the 'Hereditary spastic paraplegia' panel. Age of onset of Spastic paraplegia in patients from PMID:27725288 includes 'Infancy, 3 yr, 4 yr, 10 yr, not examined). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.77 | B4GALNT1 | Louise Daugherty Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, autosomal recessive to Spastic paraplegia 26, autosomal recessive, 609195 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.77 | B4GALNT1 | Louise Daugherty Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, autosomal recessive to Spastic paraplegia 26, autosomal recessive, 609195 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.76 | ATL1 | Louise Daugherty Phenotypes for gene: ATL1 were changed from Spastic paraplegia 3A, autosomal dominant; Spastic paraplegia 3A, autosomal dominant,; Spastic Paraplegia, Dominant to Spastic paraplegia 3A, autosomal dominant,182600; Spastic Paraplegia, Dominant | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.73 | AP4S1 | Louise Daugherty Phenotypes for gene: AP4S1 were changed from seizures; developmental delay; Spastic paraplegia 52, autosomal recessive to seizures; developmental delay; Spastic paraplegia 52, autosomal recessive, 614067 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.71 | AP4M1 | Louise Daugherty Phenotypes for gene: AP4M1 were changed from Spastic paraplegia 50, autosomal recessive to Spastic paraplegia 50, autosomal recessive, 612936 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.70 | AP4E1 | Louise Daugherty Phenotypes for gene: AP4E1 were changed from Spastic paraplegia 51, autosomal recessive to Spastic paraplegia 51, autosomal recessive, 613744 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.67 | AP4B1 | Louise Daugherty Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive to Spastic paraplegia 47, autosomal recessive, 614066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.66 | ALS2 | Louise Daugherty Phenotypes for gene: ALS2 were changed from 607225 to Spastic paralysis, infantile onset ascending, 607225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.65 | ALDH18A1 | Louise Daugherty Phenotypes for gene: ALDH18A1 were changed from ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3; Spastic paraplegia 9A, autosomal dominant to ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3; Spastic paraplegia 9A, autosomal dominant, 601162; Spastic paraplegia 9B, autosomal recessive, 616586 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.63 | AFG3L2 | Louise Daugherty Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive to Spastic ataxia 5, autosomal recessive, 614487; Ataxia, spastic, 5, autosomal recessive | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.61 | ERLIN1 | Rebecca Foulger Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia - childhood onset to Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.60 | ERLIN1 | 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 v0.59 | HACE1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review on the Hereditary spastic paraplegia panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.58 | CYP27A1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review on the Hereditary spastic paraplegia panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.57 | GBA2 | Louise Daugherty Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive to Spastic paraplegia 46, autosomal recessive, 614409 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.54 | RAB3GAP2 | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.53 | LYST | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.52 | LYST | Rebecca Foulger Phenotypes for gene: LYST were changed from spastic paraplegia to spastic paraplegia; Chediak-Higashi syndrome, 214500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.50 | KLC4 | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.49 | KLC4 | Rebecca Foulger Phenotypes for gene: KLC4 were changed from spastic paraplegia to spastic paraplegia; progressive complicated spastic paraplegia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.48 | KDM5C | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.47 | KDM5C | Rebecca Foulger Phenotypes for gene: KDM5C were changed from Intellectual disability; progressive spasticity; epilepsy; hypothyroidism; developmental delay to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; Intellectual disability; progressive spasticity; epilepsy; hypothyroidism; developmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.46 | HACE1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.45 | HACE1 | Rebecca Foulger Phenotypes for gene: HACE1 were changed from psychomotor retardation; Spastic paraplegia; seizure to psychomotor retardation; Spastic paraplegia; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.44 | ERLIN1 | Rebecca Foulger Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia - childhood onset | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.43 | DARS | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.42 | DARS | Rebecca Foulger Phenotypes for gene: DARS were changed from leg spasticity; Brain stem and spinal cord Hypomyelination to Brain stem and spinal cord Hypomyelination; leg spasticity; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.41 | CYP27A1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.40 | CYP27A1 | Rebecca Foulger Phenotypes for gene: CYP27A1 were changed from progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.38 | ATP13A2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel. Note that this gene may not be appropriate for a childhood onset panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.36 | ATP13A2 | Rebecca Foulger Phenotypes for gene: ATP13A2 were changed from Adult-onset lower-limb predominant spastic paraparesis to Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v0.33 | 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 v0.31 | ABCD1 | Rebecca Foulger Phenotypes for gene: ABCD1 were changed from adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia to adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia; spastic paraparesis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.30 | ABCD1 | 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 v0.28 | TBP_CAG |
Louise Daugherty STR: TBP_CAG was added STR: TBP_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list STR tags were added to STR: TBP_CAG. Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136 Review for STR: TBP_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 Sources: Expert list |
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Childhood onset hereditary spastic paraplegia v0.26 | PPP2R2B_CAG |
Louise Daugherty STR: PPP2R2B_CAG was added STR: PPP2R2B_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list STR tags were added to STR: PPP2R2B_CAG. Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326 Review for STR: PPP2R2B_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 Sources: Expert list |
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Childhood onset hereditary spastic paraplegia v0.24 | HTT_CAG |
Louise Daugherty STR: HTT_CAG was added STR: HTT_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list STR tags were added to STR: HTT_CAG. Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: HTT_CAG were set to Huntington disease 143100 Review for STR: HTT_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 Sources: Expert list |
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Childhood onset hereditary spastic paraplegia v0.22 | FXN_GAA |
Louise Daugherty STR: FXN_GAA was added STR: FXN_GAA was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list STR tags were added to STR: FXN_GAA. Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for STR: FXN_GAA were set to Friedreich ataxia 229300 Review for STR: FXN_GAA was set to GREEN Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 Sources: Expert list |
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Childhood onset hereditary spastic paraplegia v0.20 | CACNA1A_CAG |
Louise Daugherty STR: CACNA1A_CAG was added STR: CACNA1A_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list STR tags were added to STR: CACNA1A_CAG. Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086 Review for STR: CACNA1A_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 Sources: Expert list |
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Childhood onset hereditary spastic paraplegia v0.18 | ATXN7_CAG |
Louise Daugherty STR: ATXN7_CAG was added STR: ATXN7_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list STR tags were added to STR: ATXN7_CAG. Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN7_CAG were set to Spinocerebellar ataxia 7 164500 Review for STR: ATXN7_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 Sources: Expert list |
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Childhood onset hereditary spastic paraplegia v0.16 | ATXN3_CAG |
Louise Daugherty STR: ATXN3_CAG was added STR: ATXN3_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list STR tags were added to STR: ATXN3_CAG. Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150 Review for STR: ATXN3_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 Sources: Expert list |
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Childhood onset hereditary spastic paraplegia v0.14 | ATXN2_CAG |
Louise Daugherty STR: ATXN2_CAG was added STR: ATXN2_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list STR tags were added to STR: ATXN2_CAG. Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090 Review for STR: ATXN2_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 Sources: Expert list |
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Childhood onset hereditary spastic paraplegia v0.12 | ATXN10_ATTCT |
Louise Daugherty STR: ATXN10_ATTCT was added STR: ATXN10_ATTCT was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list STR tags were added to STR: ATXN10_ATTCT. Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN10_ATTCT were set to Spinocerebellar ataxia 10 603516 Review for STR: ATXN10_ATTCT was set to GREEN Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 Sources: Expert list |
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Childhood onset hereditary spastic paraplegia v0.10 | ATXN1_CAG |
Louise Daugherty STR: ATXN1_CAG was added STR: ATXN1_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list STR tags were added to STR: ATXN1_CAG. Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400 Review for STR: ATXN1_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 Sources: Expert list |
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Childhood onset hereditary spastic paraplegia v0.6 | ZFYVE27 |
Sarah Leigh gene: ZFYVE27 was added gene: ZFYVE27 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: ZFYVE27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZFYVE27 were set to Mannan AU (2006) Phenotypes for gene: ZFYVE27 were set to Spastic paraplegia 33, autosomal dominant |
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Childhood onset hereditary spastic paraplegia v0.6 | ZFYVE26 |
Sarah Leigh gene: ZFYVE26 was added gene: ZFYVE26 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFYVE26 were set to Hanein et al. (2008) Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | ZEB2 |
Sarah Leigh gene: ZEB2 was added gene: ZEB2 was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert Review Red Mode of inheritance for gene: ZEB2 was set to |
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Childhood onset hereditary spastic paraplegia v0.6 | WDR48 |
Sarah Leigh gene: WDR48 was added gene: WDR48 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red Mode of inheritance for gene: WDR48 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR48 were set to Novarino et al. (2014) |
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Childhood onset hereditary spastic paraplegia v0.6 | WDR45B |
Sarah Leigh gene: WDR45B was added gene: WDR45B was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR45B were set to 21937992; 28503735 Phenotypes for gene: WDR45B were set to profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. |
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Childhood onset hereditary spastic paraplegia v0.6 | WASHC5 |
Sarah Leigh gene: WASHC5 was added gene: WASHC5 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: WASHC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WASHC5 were set to Valdmanis et al. (2007) Phenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant |
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Childhood onset hereditary spastic paraplegia v0.6 | VPS37A |
Sarah Leigh gene: VPS37A was added gene: VPS37A was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS37A were set to Zivony-Elboum et al. (2012) Phenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | VAMP1 |
Sarah Leigh gene: VAMP1 was added gene: VAMP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VAMP1 were set to 22958904 Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600 |
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Childhood onset hereditary spastic paraplegia v0.6 | USP8 |
Sarah Leigh gene: USP8 was added gene: USP8 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red Mode of inheritance for gene: USP8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP8 were set to Novarino et al. (2014) |
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Childhood onset hereditary spastic paraplegia v0.6 | TUBB4A |
Sarah Leigh gene: TUBB4A was added gene: TUBB4A was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBB4A were set to Dystonia 4, torsion, autosomal dominant 128101; ataxia; Leukodystrophy, hypomyelinating, 6 612438 |
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Childhood onset hereditary spastic paraplegia v0.6 | TFG |
Sarah Leigh gene: TFG was added gene: TFG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red Mode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFG were set to Beetz et al. (2013) |
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Childhood onset hereditary spastic paraplegia v0.6 | TECPR2 |
Sarah Leigh gene: TECPR2 was added gene: TECPR2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TECPR2 were set to 23176824; 26542466 Phenotypes for gene: TECPR2 were set to Spastic paraplegia 49, autosomal recessive, 615031 |
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Childhood onset hereditary spastic paraplegia v0.6 | SPG7 |
Sarah Leigh gene: SPG7 was added gene: SPG7 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG7 were set to Casari et al (1998) Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | SPG21 |
Sarah Leigh gene: SPG21 was added gene: SPG21 was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG21 were set to Simpson et al. (2003) Phenotypes for gene: SPG21 were set to Spastic Paraplegia, Recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | SPG11 |
Sarah Leigh gene: SPG11 was added gene: SPG11 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to Stevanin et al. (2007) Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | SPAST |
Sarah Leigh gene: SPAST was added gene: SPAST was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPAST were set to Hazan et al (1999) Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant |
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Childhood onset hereditary spastic paraplegia v0.6 | SPART |
Sarah Leigh gene: SPART was added gene: SPART was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert list,Expert Review Green Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPART were set to Patel et al. (2002 |
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Childhood onset hereditary spastic paraplegia v0.6 | SLC33A1 |
Sarah Leigh gene: SLC33A1 was added gene: SLC33A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Red,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC33A1 were set to Lin et al. (2008) Phenotypes for gene: SLC33A1 were set to Spastic paraplegia 42, autosomal dominant, |
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Childhood onset hereditary spastic paraplegia v0.6 | SLC2A1 |
Sarah Leigh gene: SLC2A1 was added gene: SLC2A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: SLC2A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC2A1 were set to 21832227; 18606970; 11136715 Phenotypes for gene: SLC2A1 were set to paroxysmal choreoathetosis; spastic paraplegia; seizure; Developmental delay |
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Childhood onset hereditary spastic paraplegia v0.6 | SLC25A46 |
Sarah Leigh gene: SLC25A46 was added gene: SLC25A46 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A46 were set to 28369803; 26168012 Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505 |
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Childhood onset hereditary spastic paraplegia v0.6 | SLC1A4 |
Sarah Leigh gene: SLC1A4 was added gene: SLC1A4 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A4 were set to 25930971; 26041762; 29989513; 26138499; 27193218 Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 |
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Childhood onset hereditary spastic paraplegia v0.6 | SLC16A2 |
Sarah Leigh gene: SLC16A2 was added gene: SLC16A2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC16A2 were set to Friesema et al. (2003) |
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Childhood onset hereditary spastic paraplegia v0.6 | SERAC1 |
Sarah Leigh gene: SERAC1 was added gene: SERAC1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERAC1 were set to 27186703; 28482397; 27604308; 28778788; 29205472; 22683713; 16527507 Phenotypes for gene: SERAC1 were set to MEGDEL syndrome; MEGDHEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 |
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Childhood onset hereditary spastic paraplegia v0.6 | SACS |
Sarah Leigh gene: SACS was added gene: SACS was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type |
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Childhood onset hereditary spastic paraplegia v0.6 | RTN2 |
Sarah Leigh gene: RTN2 was added gene: RTN2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: RTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RTN2 were set to Montenegro et al. (2012) Phenotypes for gene: RTN2 were set to Spastic paraplegia 12, autosomal dominant |
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Childhood onset hereditary spastic paraplegia v0.6 | REEP2 |
Sarah Leigh gene: REEP2 was added gene: REEP2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Other,Literature Mode of inheritance for gene: REEP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: REEP2 were set to 24388663 Phenotypes for gene: REEP2 were set to ?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant,615625 |
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Childhood onset hereditary spastic paraplegia v0.6 | REEP1 |
Sarah Leigh gene: REEP1 was added gene: REEP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: REEP1 were set to Zuchner et al. (2006) Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant |
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Childhood onset hereditary spastic paraplegia v0.6 | RAB3GAP2 |
Sarah Leigh gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: RAB3GAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAB3GAP2 were set to 24482476 Phenotypes for gene: RAB3GAP2 were set to spastic paraplegia |
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Childhood onset hereditary spastic paraplegia v0.6 | PSEN1 |
Sarah Leigh gene: PSEN1 was added gene: PSEN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: PSEN1 was set to Phenotypes for gene: PSEN1 were set to Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; Alzheimer disease, type 3, with spastic paraparesis and apraxia |
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Childhood onset hereditary spastic paraplegia v0.6 | POLR3A |
Sarah Leigh gene: POLR3A was added gene: POLR3A was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3A were set to 21855841; 25655951 Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia |
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Childhood onset hereditary spastic paraplegia v0.6 | PNPLA6 |
Sarah Leigh gene: PNPLA6 was added gene: PNPLA6 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA6 were set to Rainier et al. (2008) Phenotypes for gene: PNPLA6 were set to Spastic paraplegia 39, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | PLP1 |
Sarah Leigh gene: PLP1 was added gene: PLP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PLP1 were set to Saugier-Veber et al (1994) Phenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked |
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Childhood onset hereditary spastic paraplegia v0.6 | PGAP1 |
Sarah Leigh gene: PGAP1 was added gene: PGAP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP1 were set to Novarino et al. (2014) |
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Childhood onset hereditary spastic paraplegia v0.6 | PCDH12 |
Sarah Leigh gene: PCDH12 was added gene: PCDH12 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDH12 were set to 27164683 Phenotypes for gene: PCDH12 were set to microcephaly; epilepsy; midbrain abnormalities; intellectual disability; hypothalamic abnormalities; perithalamic hyperechogenicity; periventricular hyperechogenicity |
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Childhood onset hereditary spastic paraplegia v0.6 | OPA3 |
Sarah Leigh gene: OPA3 was added gene: OPA3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green,Literature Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OPA3 were set to 25201222; 11668429; 20301646; 24944951; 25657044 Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome |
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Childhood onset hereditary spastic paraplegia v0.6 | NT5C2 |
Sarah Leigh gene: NT5C2 was added gene: NT5C2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5C2 were set to 29123918; 28884889; 24482476; 28327087 Phenotypes for gene: NT5C2 were set to Spasticparaplegia45, autosomal recessive 613162 |
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Childhood onset hereditary spastic paraplegia v0.6 | NKX6-2 |
Sarah Leigh gene: NKX6-2 was added gene: NKX6-2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NKX6-2 were set to 15601927; 28575651 Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 |
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Childhood onset hereditary spastic paraplegia v0.6 | NIPA1 |
Sarah Leigh gene: NIPA1 was added gene: NIPA1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NIPA1 were set to Rainier et al. (2003) Phenotypes for gene: NIPA1 were set to Spasticparaplegia6,autosomaldominant,600363; Spastic paraplegia 6, autosomal dominant |
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Childhood onset hereditary spastic paraplegia v0.6 | MTPAP |
Sarah Leigh gene: MTPAP was added gene: MTPAP was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTPAP were set to Spastic ataxia 4, autosomal recessive; Ataxia, spastic, 4 |
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Childhood onset hereditary spastic paraplegia v0.6 | MARS2 |
Sarah Leigh gene: MARS2 was added gene: MARS2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: MARS2 was set to Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | MARS |
Sarah Leigh gene: MARS was added gene: MARS was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS were set to Novarino et al. (2014) |
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Childhood onset hereditary spastic paraplegia v0.6 | MAG |
Sarah Leigh gene: MAG was added gene: MAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAG were set to 24482476; 26179919 Phenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, 616680 |
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Childhood onset hereditary spastic paraplegia v0.6 | LYST |
Sarah Leigh gene: LYST was added gene: LYST was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LYST were set to 24521565 Phenotypes for gene: LYST were set to spastic paraplegia |
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Childhood onset hereditary spastic paraplegia v0.6 | L1CAM |
Sarah Leigh gene: L1CAM was added gene: L1CAM was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert list,Expert Review Green Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: L1CAM were set to PMID: 7920659 Phenotypes for gene: L1CAM were set to X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia |
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Childhood onset hereditary spastic paraplegia v0.6 | KLC4 |
Sarah Leigh gene: KLC4 was added gene: KLC4 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: KLC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLC4 were set to 26423925 Phenotypes for gene: KLC4 were set to spastic paraplegia |
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Childhood onset hereditary spastic paraplegia v0.6 | KIF5A |
Sarah Leigh gene: KIF5A was added gene: KIF5A was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF5A were set to Reid et al. (2002) Phenotypes for gene: KIF5A were set to Spastic paraplegia 10, autosomal dominant |
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Childhood onset hereditary spastic paraplegia v0.6 | KIF1C |
Sarah Leigh gene: KIF1C was added gene: KIF1C was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF1C were set to 17273843; 24482476; 24319291 Phenotypes for gene: KIF1C were set to Spastic ataxia 2,autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | KIF1A |
Sarah Leigh gene: KIF1A was added gene: KIF1A was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF1A were set to Erlich et al. (2011) Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | KIDINS220 |
Sarah Leigh gene: KIDINS220 was added gene: KIDINS220 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296 |
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Childhood onset hereditary spastic paraplegia v0.6 | KDM5C |
Sarah Leigh gene: KDM5C was added gene: KDM5C was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: KDM5C were set to 26919706; 15586325; 10982473 Phenotypes for gene: KDM5C were set to Intellectual disability; progressive spasticity; epilepsy; hypothyroidism; developmental delay |
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Childhood onset hereditary spastic paraplegia v0.6 | IBA57 |
Sarah Leigh gene: IBA57 was added gene: IBA57 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IBA57 were set to 30258207; 25609768 Phenotypes for gene: IBA57 were set to ?Spastic paraplegia 74, autosomal recessive, 616451 |
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Childhood onset hereditary spastic paraplegia v0.6 | HSPD1 |
Sarah Leigh gene: HSPD1 was added gene: HSPD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: HSPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HSPD1 were set to Hansen et al. (2002) Phenotypes for gene: HSPD1 were set to Spastic paraplegia 13, autosomal dominant |
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Childhood onset hereditary spastic paraplegia v0.6 | HACE1 |
Sarah Leigh gene: HACE1 was added gene: HACE1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HACE1 were set to 26437029; 26424145 Phenotypes for gene: HACE1 were set to psychomotor retardation; Spastic paraplegia; seizure |
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Childhood onset hereditary spastic paraplegia v0.6 | GJC2 |
Sarah Leigh gene: GJC2 was added gene: GJC2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Red Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GJC2 were set to Orthmann-Murphy et al. (2009) Phenotypes for gene: GJC2 were set to Spastic paraplegia 44, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | GCH1 |
Sarah Leigh gene: GCH1 was added gene: GCH1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature Mode of inheritance for gene: GCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GCH1 were set to 21935284; 24509643 Phenotypes for gene: GCH1 were set to progressive spastic paraplegia; Spastic paraplegia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dystonia |
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Childhood onset hereditary spastic paraplegia v0.6 | GBA2 |
Sarah Leigh gene: GBA2 was added gene: GBA2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBA2 were set to Martin et al. (2013) Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | GAD1 |
Sarah Leigh gene: GAD1 was added gene: GAD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: GAD1 was set to Phenotypes for gene: GAD1 were set to Cerebralpalsy,spasticquadriplegic,1,603513 |
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Childhood onset hereditary spastic paraplegia v0.6 | FARS2 |
Sarah Leigh gene: FARS2 was added gene: FARS2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FARS2 were set to 29126765; 26553276; 25851414; 30250868 Phenotypes for gene: FARS2 were set to Spastic paraplegia 77, autosomal recessive, 617046 |
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Childhood onset hereditary spastic paraplegia v0.6 | FA2H |
Sarah Leigh gene: FA2H was added gene: FA2H was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FA2H were set to Edvardson et al. (2008) Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | ERLIN2 |
Sarah Leigh gene: ERLIN2 was added gene: ERLIN2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ERLIN2 were set to 27824013; 23085305; 21330303; 23109142; 28832565; 23897027; 22554690; 25977983; 23109145; 21796390; 29528531 Phenotypes for gene: ERLIN2 were set to Spastic paraplegia 18, autosomal recessive, 611225; neurodegeneration; hereditary spastic paraplegia; Spastic paraplegia, autosomal dominant |
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Childhood onset hereditary spastic paraplegia v0.6 | ERLIN1 |
Sarah Leigh gene: ERLIN1 was added gene: ERLIN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Red Mode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERLIN1 were set to 24482476 Phenotypes for gene: ERLIN1 were set to Hereditary spastic paraplegia |
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Childhood onset hereditary spastic paraplegia v0.6 | ENTPD1 |
Sarah Leigh gene: ENTPD1 was added gene: ENTPD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ENTPD1 were set to Novarino et al. (2014) Phenotypes for gene: ENTPD1 were set to Spasticparaplegia64,615683 |
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Childhood onset hereditary spastic paraplegia v0.6 | DSTYK |
Sarah Leigh gene: DSTYK was added gene: DSTYK was added to Hereditary spastic paraplegia - childhood onset. Sources: Other Mode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSTYK were set to 28157540 Phenotypes for gene: DSTYK were set to Spastic paraplegia 23, 270750 |
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Childhood onset hereditary spastic paraplegia v0.6 | DDHD2 |
Sarah Leigh gene: DDHD2 was added gene: DDHD2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDHD2 were set to Schuurs-Hoeijmakers et al. (2012) Phenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | DDHD1 |
Sarah Leigh gene: DDHD1 was added gene: DDHD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDHD1 were set to Tesson et al. (2012) Phenotypes for gene: DDHD1 were set to Spastic paraplegia 28, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | DARS |
Sarah Leigh gene: DARS was added gene: DARS was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS were set to 25527264; 23643384 Phenotypes for gene: DARS were set to leg spasticity; Brain stem and spinal cord Hypomyelination |
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Childhood onset hereditary spastic paraplegia v0.6 | CYP7B1 |
Sarah Leigh gene: CYP7B1 was added gene: CYP7B1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP7B1 were set to Tsaousidou et al. (2008) i Phenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | CYP2U1 |
Sarah Leigh gene: CYP2U1 was added gene: CYP2U1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP2U1 were set to Tesson et al. (2012) Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | CYP27A1 |
Sarah Leigh gene: CYP27A1 was added gene: CYP27A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27A1 were set to 25862734 Phenotypes for gene: CYP27A1 were set to progressive lower extremity spasticity,often disproportionate to any degree of weakness |
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Childhood onset hereditary spastic paraplegia v0.6 | CDK16 |
Sarah Leigh gene: CDK16 was added gene: CDK16 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature Mode of inheritance for gene: CDK16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CDK16 were set to 25644381; 26350204 Phenotypes for gene: CDK16 were set to Intellectual disability and spastic paraplegia |
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Childhood onset hereditary spastic paraplegia v0.6 | CCT5 |
Sarah Leigh gene: CCT5 was added gene: CCT5 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia; Sensory Neuropathy with Spastic Paraplegia |
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Childhood onset hereditary spastic paraplegia v0.6 | CAPN1 |
Sarah Leigh gene: CAPN1 was added gene: CAPN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAPN1 were set to Spastic paraplegia 76 autosomal recessive, 616907 |
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Childhood onset hereditary spastic paraplegia v0.6 | C19orf12 |
Sarah Leigh gene: C19orf12 was added gene: C19orf12 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C19orf12 were set to Landoure (2013) |
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Childhood onset hereditary spastic paraplegia v0.6 | C12orf65 |
Sarah Leigh gene: C12orf65 was added gene: C12orf65 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C12orf65 were set to Shimazaki et al. (2012) Phenotypes for gene: C12orf65 were set to Spasticparaplegia55,autosomalrecessive,615035 |
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Childhood onset hereditary spastic paraplegia v0.6 | BSCL2 |
Sarah Leigh gene: BSCL2 was added gene: BSCL2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BSCL2 were set to Windpassinger et al. (2004) Phenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome, |
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Childhood onset hereditary spastic paraplegia v0.6 | B4GALNT1 |
Sarah Leigh gene: B4GALNT1 was added gene: B4GALNT1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALNT1 were set to Boukhris et al. (2013) Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | ATP13A2 |
Sarah Leigh gene: ATP13A2 was added gene: ATP13A2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP13A2 were set to 28137957 Phenotypes for gene: ATP13A2 were set to Adult-onset lower-limb predominant spastic paraparesis |
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Childhood onset hereditary spastic paraplegia v0.6 | ATL1 |
Sarah Leigh gene: ATL1 was added gene: ATL1 was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATL1 were set to PMID: 11685207 Phenotypes for gene: ATL1 were set to Spastic paraplegia 3A, autosomal dominant; Spastic paraplegia 3A, autosomal dominant,; Spastic Paraplegia, Dominant |
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Childhood onset hereditary spastic paraplegia v0.6 | ARSI |
Sarah Leigh gene: ARSI was added gene: ARSI was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red Mode of inheritance for gene: ARSI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSI were set to Novarino et al. (2014) |
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Childhood onset hereditary spastic paraplegia v0.6 | ARL6IP1 |
Sarah Leigh gene: ARL6IP1 was added gene: ARL6IP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL6IP1 were set to Novarino et al. (2014) |
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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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Childhood onset hereditary spastic paraplegia v0.6 | AP5Z1 |
Sarah Leigh gene: AP5Z1 was added gene: AP5Z1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP5Z1 were set to Slabicki et al. (2010) i Phenotypes for gene: AP5Z1 were set to Spastic paraplegia 48, autosomal recessive; Spastic Paraplegia, Recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | AP4S1 |
Sarah Leigh gene: AP4S1 was added gene: AP4S1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4S1 were set to Abou Jamra et al. (2011) Phenotypes for gene: AP4S1 were set to seizures; developmental delay; Spastic paraplegia 52, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | AP4M1 |
Sarah Leigh gene: AP4M1 was added gene: AP4M1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4M1 were set to Verkerk et al. (2009) Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | AP4E1 |
Sarah Leigh gene: AP4E1 was added gene: AP4E1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4E1 were set to Moreno-De-Luca et al. (2011) Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | AP4B1 |
Sarah Leigh gene: AP4B1 was added gene: AP4B1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to Abou Jamra et al. (2011) i Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | AMPD2 |
Sarah Leigh gene: AMPD2 was added gene: AMPD2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD2 were set to Novarino et al. (2014) Phenotypes for gene: AMPD2 were set to Pontocerebellar hypolplasia (biallelic); Hereditary Spastic Paraplegia? |
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Childhood onset hereditary spastic paraplegia v0.6 | ALS2 |
Sarah Leigh gene: ALS2 was added gene: ALS2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALS2 were set to 12145748 Phenotypes for gene: ALS2 were set to 607225 |
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Childhood onset hereditary spastic paraplegia v0.6 | ALDH18A1 |
Sarah Leigh gene: ALDH18A1 was added gene: ALDH18A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green,Literature Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ALDH18A1 were set to ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3; Spastic paraplegia 9A, autosomal dominant |
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Childhood onset hereditary spastic paraplegia v0.6 | AIMP1 |
Sarah Leigh gene: AIMP1 was added gene: AIMP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AIMP1 were set to 21092922 Phenotypes for gene: AIMP1 were set to 260600 |
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Childhood onset hereditary spastic paraplegia v0.6 | AFG3L2 |
Sarah Leigh gene: AFG3L2 was added gene: AFG3L2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green Mode of inheritance for gene: AFG3L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AFG3L2 were set to Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive |
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Childhood onset hereditary spastic paraplegia v0.6 | ADAR |
Sarah Leigh gene: ADAR was added gene: ADAR was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAR were set to 25243380 Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010 |
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Childhood onset hereditary spastic paraplegia v0.6 | ABCD1 |
Sarah Leigh gene: ABCD1 was added gene: ABCD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ABCD1 were set to adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia |
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Childhood onset hereditary spastic paraplegia v0.5 | Louise Daugherty List of related panels changed from Childhood onset hereditary spastic paraplegia; GMS R61 to Childhood onset hereditary spastic paraplegia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.2 | Ellen McDonagh List of related panels changed from to Childhood onset hereditary spastic paraplegia; GMS R61 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.0 |
Ellen McDonagh Added Panel Hereditary spastic paraplegia - childhood onset Set panel types to: GMS Rare Disease Virtual |