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Adult onset neurodegenerative disorder v4.31 UCHL1 Sarah Leigh Phenotypes for gene: UCHL1 were changed from {?Parkinson disease 5, susceptibility to}, OMIM:613643; Parkinson disease 5, autosomal dominant, susceptibility to, MONDO:0013340; 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 {?Parkinson disease 5, susceptibility to}, OMIM:613643; Parkinson disease 5, autosomal dominant, susceptibility to, MONDO:0013340; Spastic paraplegia 79B, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221
Adult onset neurodegenerative disorder v4.30 UCHL1 Sarah Leigh Phenotypes for gene: UCHL1 were changed from ?{Parkinson disease 5, susceptibility to}; Early onset ataxia and optic neuropathy to {?Parkinson disease 5, susceptibility to}, OMIM:613643; Parkinson disease 5, autosomal dominant, susceptibility to, MONDO:0013340; Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221
Adult onset neurodegenerative disorder v4.13 SPG7 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be both monoallelic and biallelic, autosomal or pseudoautosomal.; to: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
Adult onset neurodegenerative disorder v4.9 SPG7 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form) autosomal or pseudoautosomal.; to: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be both monoallelic and biallelic, autosomal or pseudoautosomal.
Adult onset neurodegenerative disorder v4.9 SPG7 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be both monoallelic and biallelic, autosomal or pseudoautosomal.; to: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form) autosomal or pseudoautosomal.
Adult onset neurodegenerative disorder v4.8 SPG7 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be both monoallelic and biallelic, autosomal or pseudoautosomal.; to: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be both monoallelic and biallelic, autosomal or pseudoautosomal.
Adult onset neurodegenerative disorder v4.7 SPG7 Sarah Leigh edited their review of gene: SPG7: Added comment: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be both monoallelic and biallelic, autosomal or pseudoautosomal.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v4.5 SPG7 Sarah Leigh Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia; Spastic paraplegia 7, autosomal recessive to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Adult onset neurodegenerative disorder v3.59 SPAST Sarah Leigh Phenotypes for gene: SPAST were changed from Spastic paraplegia 4, autosomal dominant, OMIM:182601 to Spastic paraplegia 4, autosomal dominant, OMIM:182601; hereditary spastic paraplegia 4, MONDO:0008438
Adult onset neurodegenerative disorder v3.52 MAG Arina Puzriakova Phenotypes for gene: MAG were changed from Spastic paraplegia 75, autosomal recessive, 616680 to Spastic paraplegia 75, autosomal recessive, OMIM:616680
Adult onset neurodegenerative disorder v2.296 KDM5C Arina Puzriakova Phenotypes for gene: KDM5C were changed from Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, OMIM:300534
Adult onset neurodegenerative disorder v2.273 HSPD1 Arina Puzriakova Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant to Spastic paraplegia 13, autosomal dominant, OMIM:605280
Adult onset neurodegenerative disorder v2.272 C19orf12 Sarah Leigh Phenotypes for gene: C19orf12 were changed from Neurodegeneration with brain iron accumulation 4, OMIM: 614298 to ?Spastic paraplegia 43, autosomal recessive, OMIM:615043; Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Adult onset neurodegenerative disorder v2.256 RAB3GAP2 Arina Puzriakova Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia to Martsolf syndrome 1, OMIM:212720
Adult onset neurodegenerative disorder v2.255 IBA57 Arina Puzriakova Phenotypes for gene: IBA57 were changed from ?Spastic paraplegia 74, autosomal recessive, 616451 to ?Spastic paraplegia 74, autosomal recessive, OMIM:616451
Adult onset neurodegenerative disorder v2.251 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
Adult onset neurodegenerative disorder v2.197 BSCL2 Arina Puzriakova Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, to Silver spastic paraplegia syndrome, OMIM:270685
Adult onset neurodegenerative disorder v2.193 C12orf65 Arina Puzriakova Phenotypes for gene: C12orf65 were changed from Spasticparaplegia55,autosomalrecessive,615035 to Spastic paraplegia 55, autosomal recessive, OMIM:615035
Adult onset neurodegenerative disorder v2.192 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. to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977
Adult onset neurodegenerative disorder v2.191 TFG Arina Puzriakova Phenotypes for gene: TFG were changed from to Spastic paraplegia 57, autosomal recessive, OMIM:615658
Adult onset neurodegenerative disorder v2.188 KIF1C Arina Puzriakova Phenotypes for gene: KIF1C were changed from Spastic ataxia 2,autosomal recessive to Spastic ataxia 2, autosomal recessive, OMIM:611302
Adult onset neurodegenerative disorder v2.186 ENTPD1 Arina Puzriakova Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia64,615683 to Spastic paraplegia 64, autosomal recessive, OMIM:615683
Adult onset neurodegenerative disorder v2.185 ARG1 Arina Puzriakova Phenotypes for gene: ARG1 were changed from Argininaemia, 207800; Progressive spastic tetraplegia to Argininemia, OMIM:207800
Adult onset neurodegenerative disorder v2.184 ALS2 Arina Puzriakova Phenotypes for gene: ALS2 were changed from Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100 to Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Primary lateral sclerosis, juvenile, OMIM:606353
Adult onset neurodegenerative disorder v2.178 KIF1A Arina Puzriakova Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive to Spastic paraplegia 30, autosomal dominant, OMIM:610357; Spastic paraplegia 30, autosomal recessive, OMIM:610357; NESCAV syndrome, OMIM:614255
Adult onset neurodegenerative disorder v2.159 MARS2 Ivone Leong Phenotypes for gene: MARS2 were changed from Spastic ataxia 3, autosomal recessive to Spastic ataxia 3, autosomal recessive, OMIM:611390
Adult onset neurodegenerative disorder v2.147 ATP6AP2 Ivone Leong Phenotypes for gene: ATP6AP2 were changed from ?Parkinsonism with spasticity, X-linked 300911; Mental retardation, X-linked, syndromic, Hedera type 300423 to ?Parkinsonism with spasticity, X-linked, OMIM:300911; Mental retardation, X-linked, syndromic, Hedera type, OMIM:300423
Adult onset neurodegenerative disorder v2.144 AP5Z1 Ivone Leong Phenotypes for gene: AP5Z1 were changed from Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive to Spastic paraplegia 48, autosomal recessive, OMIM:613647
Adult onset neurodegenerative disorder v2.127 SPG11 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
early onset parkinsonism, levo dopa responsve;Spastic paraplegia 11, autosomal recessive;Complex parkinsonism;hereditary spastic paraparesis;Early Onset Complex Disease
Adult onset neurodegenerative disorder v2.127 SPG11 Ivone Leong Phenotypes for gene: SPG11 were changed from early onset parkinsonism, levo dopa responsve; Spastic paraplegia 11, autosomal recessive; Complex parkinsonism; hereditary spastic paraparesis; Early Onset Complex Disease to early onset parkinsonism, levo dopa responsve; Spastic paraplegia 11, autosomal recessive, OMIM:604360; Complex parkinsonism; hereditary spastic paraparesis; Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099
Adult onset neurodegenerative disorder v2.126 SPAST Ivone Leong Phenotypes for gene: SPAST were changed from Spastic paraplegia 4, autosomal dominant to Spastic paraplegia 4, autosomal dominant, OMIM:182601
Adult onset neurodegenerative disorder v2.119 PSEN1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Acne inversa, familial, 3, 613737;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822;Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques;Dystonia;Dementia, frontotemporal, 600274;Pick disease, 172700;Clinical syndrome Alzheimer disease;Alzheimer disease, type 3, 607822;Cardiomyopathy, dilated, 1U, 613694;Alzheimer disease, type 3, with spastic paraparesis and apraxia
Adult onset neurodegenerative disorder v2.119 PSEN1 Ivone Leong Phenotypes for gene: PSEN1 were changed from Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; Dystonia; Dementia, frontotemporal, 600274; Pick disease, 172700; Clinical syndrome Alzheimer disease; Alzheimer disease, type 3, 607822; Cardiomyopathy, dilated, 1U, 613694; Alzheimer disease, type 3, with spastic paraparesis and apraxia to Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, OMIM:607822; Alzheimer disease, type 3, with spastic paraparesis and apraxia, OMIM:607822; Dystonia; Dementia, frontotemporal, OMIM:600274; Pick disease, OMIM:172700; Alzheimer disease, type 3, OMIM:607822
Adult onset neurodegenerative disorder v2.103 LYST Ivone Leong Phenotypes for gene: LYST were changed from Chediak-Higashi syndrome, OMIM:214500; peripheral neuropathy; Parkinsonism; albinism; spastic paraplegia to Chediak-Higashi syndrome, OMIM:214500; peripheral neuropathy; Parkinsonism; spastic paraplegia
Adult onset neurodegenerative disorder v2.102 LYST Ivone Leong Phenotypes for gene: LYST were changed from Chediak-Higashi syndrome 214500; peripheral neuropathy; Parkinsonism; albinism; spastic paraplegia to Chediak-Higashi syndrome, OMIM:214500; peripheral neuropathy; Parkinsonism; albinism; spastic paraplegia
Adult onset neurodegenerative disorder v2.100 KIF5A Ivone Leong Phenotypes for gene: KIF5A were changed from Spastic paraplegia 10, autosomal dominant to Spastic paraplegia 10, autosomal dominant, OMIM:604187
Adult onset neurodegenerative disorder v2.88 GCH1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Dopa-Responsive Dystonia (DRD);progressive spastic paraplegia;Dystonia;Hyperphenylalaninemia, BH4-deficient, B, 233910;Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230;Spastic paraplegia
Adult onset neurodegenerative disorder v2.88 GCH1 Ivone Leong Phenotypes for gene: GCH1 were changed from Dopa-Responsive Dystonia (DRD); progressive spastic paraplegia; Dystonia; Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Spastic paraplegia to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230; Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910; Spastic paraplegia
Adult onset neurodegenerative disorder v2.67 CYP7B1 Ivone Leong Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive to Spastic paraplegia 5A, autosomal recessive, OMIM:270800
Adult onset neurodegenerative disorder v2.66 CYP27A1 Ivone Leong Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, OMIM:213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Adult onset neurodegenerative disorder v2.64 CSF1R Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy;Dementia;diffuse leukoencephalopathy with spheroids
Adult onset neurodegenerative disorder v2.64 CSF1R Ivone Leong Phenotypes for gene: CSF1R were changed from dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; Dementia; diffuse leukoencephalopathy with spheroids to dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
Adult onset neurodegenerative disorder v2.50 ATP13A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Parkinson disease 9, 606693;Dystonia;Kufor-Rakeb syndrome;Kufor-Rakeb Syndrome;Parkinson disease;Adult-onset lower-limb predominant spastic paraparesis;Spastic paraplegia 78, autosomal recessive, 617225;complicated hereditary spastic paraplegia
Adult onset neurodegenerative disorder v2.50 ATP13A2 Ivone Leong Phenotypes for gene: ATP13A2 were changed from Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb syndrome; Kufor-Rakeb Syndrome; Parkinson disease; Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia to Kufor-Rakeb syndrome, OMIM:606693; Dystonia; Spastic paraplegia 78, autosomal recessive, OMIM:617225
Adult onset neurodegenerative disorder v2.45 ALS2 Ivone Leong Phenotypes for gene: ALS2 were changed from Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100; Amyotrophic Lateral Sclerosis, Recessive to Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100
Adult onset neurodegenerative disorder v2.44 AFG3L2 Ivone Leong Phenotypes for gene: AFG3L2 were changed from Spinocerebellar ataxia 28; Spinocerebellar Ataxia, Dominant; Ataxia, spastic, 5, autosomal recessive; Dystonia; Spastic ataxia 5, autosomal recessive to Spinocerebellar ataxia 28, OMIM:610246; Ataxia, spastic, 5, autosomal recessive, OMIM:614487; Dystonia
Adult onset neurodegenerative disorder v2.43 ABCD1 Ivone Leong Phenotypes for gene: ABCD1 were changed from Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis to Hereditary spastic paraplegia, MONDO:0019064; adrenal failure; VLCFA accumulation; spastic paraparesis
Adult onset neurodegenerative disorder v2.37 AP4E1 Arina Puzriakova Phenotypes for gene: AP4E1 were changed from Spastic paraplegia 51, autosomal recessive to Spastic paraplegia 51, autosomal recessive, OMIM:613744; Hereditary spastic paraplegia 51, MONDO:0013401
Adult onset neurodegenerative disorder v2.36 AP4B1 Arina Puzriakova Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551
Adult onset neurodegenerative disorder v2.16 SPG7 Zornitza Stark reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16765570, 19364936; Phenotypes: Spastic paraplegia 7, autosomal recessive MIM#607259; Mode of inheritance: None; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.101 SPAST Louise Daugherty commented on gene: SPAST: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.100 SPAST Louise Daugherty Source Wessex and West Midlands GLH was added to SPAST.
Adult onset neurodegenerative disorder v1.99 VAMP1 Tracy Lester reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 REEP2 Tracy Lester reviewed gene: REEP2: Rating: RED; 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
Adult onset neurodegenerative disorder v1.99 MAG Tracy Lester reviewed gene: MAG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 KDM5C Tracy Lester reviewed gene: KDM5C: Rating: RED; 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)
Adult onset neurodegenerative disorder v1.99 IBA57 Tracy Lester reviewed gene: IBA57: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GCH1 Tracy Lester reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dopa-Responsive Dystonia (DRD), progressive spastic paraplegia, Dystonia, Hyperphenylalaninemia, BH4-deficient, B, 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230, Spastic paraplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 DARS Tracy Lester reviewed gene: DARS: Rating: RED; 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
Adult onset neurodegenerative disorder v1.99 CDK16 Tracy Lester reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual disability and spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.99 HACE1 Tracy Lester reviewed gene: HACE1: Rating: RED; 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
Adult onset neurodegenerative disorder v1.99 ERLIN1 Tracy Lester reviewed gene: ERLIN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ARG1 Tracy Lester reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Argininaemia, 207800, Progressive spastic tetraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ABCD1 Tracy Lester reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, adrenal failure, VLCFA accumulation, spastic paraparesis; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 ZFYVE26 Tracy Lester reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive, Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 WDR45B Tracy Lester reviewed gene: WDR45B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 WASHC5 Tracy Lester 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
Adult onset neurodegenerative disorder v1.99 SPG7 Tracy Lester reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia, Spastic paraplegia 7, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SPG21 Tracy Lester reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SPG11 Tracy Lester reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: early onset parkinsonism, levo dopa responsve, Spastic paraplegia 11, autosomal recessive, Complex parkinsonism, hereditary spastic paraparesis, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SPAST Tracy Lester reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 4, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 SLC2A1 Tracy Lester reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: GLUT1 DEFICIENCY SYNDROME 1, dystonia 9, GLUT1 deficiency syndrome 1, infantile onset, severe, EPILEPSY, IDIOPATHIC GENERALIZED, Dystonia, GLUT1 deficiency syndrome 2, childhood onset, GLUT1 deficiency syndrome 1, 606777, paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia, GLUT1 deficiency syndrome 1, GLUT1 deficiency syndrome 2, spastic paraplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SLC1A4 Tracy Lester reviewed gene: SLC1A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SACS Tracy Lester reviewed gene: SACS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 RTN2 Tracy Lester reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 12, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 REEP1 Tracy Lester reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 31, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 PSEN1 Tracy Lester reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Acne inversa, familial, 3, 613737, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822, Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, Dystonia, Dementia, frontotemporal, 600274, Pick disease, 172700, Clinical syndrome Alzheimer disease, Alzheimer disease, type 3, 607822, Cardiomyopathy, dilated, 1U, 613694, Alzheimer disease, type 3, with spastic paraparesis and apraxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 PNPLA6 Tracy Lester reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470), Spastic paraplegia 39, autosomal recessive, Oliver-McFarlane syndrome (#603197), Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PLP1 Tracy Lester reviewed gene: PLP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Spastic paraplegia 2, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.99 PEX16 Tracy Lester reviewed gene: PEX16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Zellweger syndrome (614876), Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 NKX6-2 Tracy Lester reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 NIPA1 Tracy Lester reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spastic paraplegia 6, autosomal dominant, Spasticparaplegia6,autosomaldominant,600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 MARS2 Tracy Lester reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 3, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 LYST Tracy Lester reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Chediak-Higashi syndrome 214500, peripheral neuropathy, Parkinsonism, albinism, spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 L1CAM Tracy Lester reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.99 KIF5A Tracy Lester reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 10, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 KIF1C Tracy Lester reviewed gene: KIF1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 2,autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 KIF1A Tracy Lester reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26410750; Phenotypes: Spastic paraplegia 30, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 KIDINS220 Tracy Lester reviewed gene: KIDINS220: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 HSPD1 Tracy Lester reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30564185, 25326637, 17420924, 18378094 ; Phenotypes: Spastic paraplegia 13, autosomal dominant 605280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 GJC2 Tracy Lester reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 25059390; Phenotypes: Leukodystrophy, hypomyelinating, 2, Autosomal Recessive Ataxia, Spastic paraplegia 44, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GBA2 Tracy Lester reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 FARS2 Tracy Lester reviewed gene: FARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 77, autosomal recessive, 617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 FA2H Tracy Lester reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, fatty acid hydroxylase-associated neurodegeneration, Spastic paraplegia 35, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ERLIN2 Tracy Lester reviewed gene: ERLIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23085305, 27824013; Phenotypes: neurodegeneration, hereditary spastic paraplegia, Spastic paraplegia 18, autosomal recessive, 611225, Spastic paraplegia, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 DDHD2 Tracy Lester reviewed gene: DDHD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132., Spastic paraplegia 54, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 DDHD1 Tracy Lester reviewed gene: DDHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 28, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CYP7B1 Tracy Lester reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 5A, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CYP2U1 Tracy Lester reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients., Spastic paraplegia 56, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CYP27A1 Tracy Lester 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
Adult onset neurodegenerative disorder v1.99 CSF1R Tracy Lester reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy, Dementia, diffuse leukoencephalopathy with spheroids; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 CAPN1 Tracy Lester reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 76 autosomal recessive 616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 C12orf65 Tracy Lester reviewed gene: C12orf65: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia55,autosomalrecessive,615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 BSCL2 Tracy Lester reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Silver spastic paraplegia syndrome,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 B4GALNT1 Tracy Lester reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 26, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ATP13A2 Tracy Lester reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 9, 606693, Dystonia, Kufor-Rakeb syndrome, Kufor-Rakeb Syndrome, Parkinson disease, Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ATL1 Tracy Lester reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, autosomal dominant,, Spastic Paraplegia, Dominant, Spastic paraplegia 3A, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 AP4S1 Tracy Lester reviewed gene: AP4S1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: developmental delay, seizures, Spastic paraplegia 52, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 AP4M1 Tracy Lester reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 AP4E1 Tracy Lester reviewed gene: AP4E1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 AP4B1 Tracy Lester reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 AMPD2 Tracy Lester reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014)., Hereditary Spastic Paraplegia?, Pontocerebellar hypoplasia 9 (#615809), Pontocerebellar hypolplasia (biallelic); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ALS2 Tracy Lester reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Primary lateral sclerosis, juvenile, 606353, Spastic paralysis, infantile onset ascending, 607225, Amyotrophic lateral sclerosis 2, juvenile, 205100, Amyotrophic Lateral Sclerosis, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ALDH18A1 Tracy Lester reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spastic paraplegia 9A, autosomal dominant, 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, SPG9; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 AFG3L2 Tracy Lester reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 28, Spinocerebellar Ataxia, Dominant, Ataxia, spastic, 5, autosomal recessive, Dystonia, Spastic ataxia 5, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.81 SPAST Louise Daugherty Publications for gene SPAST were changed from Hazan et al (1999) to 25700176; 16240363
Adult onset neurodegenerative disorder v1.74 SPAST Louise Daugherty commented on gene: SPAST: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.72 ZFYVE26 Nick Beauchamp reviewed gene: ZFYVE26: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive, Autosomal recessive spastic paraplegia 15 (#270700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 WDR45B Nick Beauchamp reviewed gene: WDR45B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 WASHC5 Nick Beauchamp reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 VAMP1 Nick Beauchamp reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 SPG7 Nick Beauchamp reviewed gene: SPG7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 7, 607259, complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia, Spastic paraplegia 7, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SPG21 Nick Beauchamp reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: ; Publications: 14564668, 28752238, 24451228; Phenotypes: Spastic Paraplegia, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SPG11 Nick Beauchamp reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: 18067136, 22554690; Phenotypes: early onset parkinsonism, levo dopa responsve, Spastic paraplegia 11, autosomal recessive, Complex parkinsonism, hereditary spastic paraparesis, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SPAST Nick Beauchamp reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: 16240363, 25700176; Phenotypes: Spastic paraplegia 4, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SLC1A4 Nick Beauchamp reviewed gene: SLC1A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SACS Nick Beauchamp reviewed gene: SACS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 RTN2 Nick Beauchamp reviewed gene: RTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 12, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 REEP2 Nick Beauchamp reviewed gene: REEP2: Rating: RED; 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
Adult onset neurodegenerative disorder v1.72 REEP1 Nick Beauchamp reviewed gene: REEP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 31, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 PLP1 Nick Beauchamp reviewed gene: PLP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Spastic paraplegia 2, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.72 PEX16 Nick Beauchamp reviewed gene: PEX16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Zellweger syndrome (614876), Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 NT5C2 Nick Beauchamp reviewed gene: NT5C2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 45, autosomal recessive, 613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 NKX6-2 Nick Beauchamp reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 NIPA1 Nick Beauchamp reviewed gene: NIPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 6, autosomal dominant, Spasticparaplegia6,autosomaldominant,600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 MTPAP Nick Beauchamp reviewed gene: MTPAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, spastic, 4,, Ataxia, spastic, 4, Spastic ataxia 4, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MARS2 Nick Beauchamp reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16672289, 22448145; Phenotypes: Spastic ataxia 3, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 MAG Nick Beauchamp reviewed gene: MAG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 LYST Nick Beauchamp reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Chediak-Higashi syndrome 214500, peripheral neuropathy, Parkinsonism, albinism, spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 L1CAM Nick Beauchamp reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.72 KLC4 Nick Beauchamp reviewed gene: KLC4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: spastic paraplegia, progressive complicated spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 KIF5A Nick Beauchamp reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29566793, 29954873; Phenotypes: Spastic paraplegia 10, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 KIF1C Nick Beauchamp reviewed gene: KIF1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 2,autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 KIF1A Nick Beauchamp reviewed gene: KIF1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 30, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 KIDINS220 Nick Beauchamp reviewed gene: KIDINS220: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 KDM5C Nick Beauchamp reviewed gene: KDM5C: Rating: RED; 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)
Adult onset neurodegenerative disorder v1.72 IBA57 Nick Beauchamp reviewed gene: IBA57: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 HSPD1 Nick Beauchamp reviewed gene: HSPD1: Rating: RED; Mode of pathogenicity: ; Publications: 18571143, 11898127; Phenotypes: Spastic paraplegia 13, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 HACE1 Nick Beauchamp reviewed gene: HACE1: Rating: RED; 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
Adult onset neurodegenerative disorder v1.72 GJC2 Nick Beauchamp reviewed gene: GJC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 2, Autosomal Recessive Ataxia, Spastic paraplegia 44, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GCH1 Nick Beauchamp reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25497597, 24993959; Phenotypes: Dopa-Responsive Dystonia (DRD), progressive spastic paraplegia, Dystonia, Hyperphenylalaninemia, BH4-deficient, B, 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230, Spastic paraplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 GBA2 Nick Beauchamp reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 GAD1 Nick Beauchamp reviewed gene: GAD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebralpalsy,spasticquadriplegic,1, 603513; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 FARS2 Nick Beauchamp reviewed gene: FARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 77, autosomal recessive, 617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 FA2H Nick Beauchamp reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, fatty acid hydroxylase-associated neurodegeneration, Spastic paraplegia 35, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ERLIN2 Nick Beauchamp reviewed gene: ERLIN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: neurodegeneration, hereditary spastic paraplegia, Spastic paraplegia 18, autosomal recessive, 611225, Spastic paraplegia, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ERLIN1 Nick Beauchamp reviewed gene: ERLIN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ENTPD1 Nick Beauchamp reviewed gene: ENTPD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia64, 615683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DSTYK Nick Beauchamp reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: ; Publications: 28157540; Phenotypes: Spastic paraplegia 23, 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DDHD1 Nick Beauchamp reviewed gene: DDHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 28, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DARS Nick Beauchamp reviewed gene: DARS: Rating: RED; 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
Adult onset neurodegenerative disorder v1.72 CYP7B1 Nick Beauchamp reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 5A, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CYP2U1 Nick Beauchamp reviewed gene: CYP2U1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients., Spastic paraplegia 56, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CYP27A1 Nick Beauchamp 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; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CSF1R Nick Beauchamp reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: 22197934, 23038421; Phenotypes: dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy, Dementia, diffuse leukoencephalopathy with spheroids; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CDK16 Nick Beauchamp reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual disability and spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.72 CCT5 Nick Beauchamp reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia, Sensory Neuropathy with Spastic Paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CAPN1 Nick Beauchamp reviewed gene: CAPN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 76 autosomal recessive, 616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 C12orf65 Nick Beauchamp reviewed gene: C12orf65: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia55,autosomalrecessive,615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 BSCL2 Nick Beauchamp reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Silver spastic paraplegia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 B4GALNT1 Nick Beauchamp reviewed gene: B4GALNT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 26, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ATP6AP2 Nick Beauchamp reviewed gene: ATP6AP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Parkinsonism with spasticity, X-linked 300911, Mental retardation, X-linked, syndromic, Hedera type 300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.72 ATL1 Nick Beauchamp reviewed gene: ATL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, autosomal dominant,, Spastic Paraplegia, Dominant, Spastic paraplegia 3A, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 ARG1 Nick Beauchamp reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Argininaemia, 207800, Progressive spastic tetraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AP5Z1 Nick Beauchamp reviewed gene: AP5Z1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, Recessive, Spastic paraplegia 48, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AP4S1 Nick Beauchamp reviewed gene: AP4S1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: developmental delay, seizures, Spastic paraplegia 52, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AP4M1 Nick Beauchamp reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AP4E1 Nick Beauchamp reviewed gene: AP4E1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AP4B1 Nick Beauchamp reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ALS2 Nick Beauchamp reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11586298; Phenotypes: Primary lateral sclerosis, juvenile, 606353, Spastic paralysis, infantile onset ascending, 607225, Amyotrophic lateral sclerosis 2, juvenile, 205100, Amyotrophic Lateral Sclerosis, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 AFG3L2 Nick Beauchamp reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 28, Spinocerebellar Ataxia, Dominant, Ataxia, spastic, 5, autosomal recessive, Dystonia, Spastic ataxia 5, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ABCD1 Nick Beauchamp reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, adrenal failure, VLCFA accumulation, spastic paraparesis; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Adult onset neurodegenerative disorder v1.67 SPAST Louise Daugherty Source Yorkshire and North East GLH was added to SPAST.
Adult onset neurodegenerative disorder v1.11 SPAST Louise Daugherty reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPAST James Polke reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.9 SPAST Louise Daugherty Source NHS GMS was added to SPAST.
Adult onset neurodegenerative disorder v1.8 SPAST Louise Daugherty Source London North GLH was added to SPAST.
Adult onset neurodegenerative disorder v1.6 VAMP1 Anthony Dallosso reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.6 REEP2 Anthony Dallosso reviewed gene: REEP2: Rating: AMBER; 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
Adult onset neurodegenerative disorder v1.6 MAG Anthony Dallosso reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 KDM5C Anthony Dallosso reviewed gene: KDM5C: Rating: AMBER; 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)
Adult onset neurodegenerative disorder v1.6 IBA57 Anthony Dallosso reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 GCH1 Anthony Dallosso reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dopa-Responsive Dystonia (DRD), progressive spastic paraplegia, Dystonia, Hyperphenylalaninemia, BH4-deficient, B, 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230, Spastic paraplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 DARS Anthony Dallosso 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
Adult onset neurodegenerative disorder v1.6 CDK16 Anthony Dallosso reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual disability and spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.6 CCT5 Anthony Dallosso reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia, Sensory Neuropathy with Spastic Paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.6 ATP6AP2 Anthony Dallosso reviewed gene: ATP6AP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Parkinsonism with spasticity, X-linked 300911, Mental retardation, X-linked, syndromic, Hedera type 300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.6 AP5Z1 Anthony Dallosso reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, Recessive, Spastic paraplegia 48, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.3 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. 'Hereditary spastic paraplegia' is a component panel of 'Neurodegenerative disorders - adult onset'.
Adult onset neurodegenerative disorder v1.2 NT5C2 Rebecca Foulger Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive 613162 to Spastic paraplegia 45, autosomal recessive, 613162
Adult onset neurodegenerative disorder v0.153 ERLIN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.152 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.134 GBA2 Louise Daugherty Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive to Spastic paraplegia 46, autosomal recessive, 614409
Adult onset neurodegenerative disorder v0.111 VPS13D Louise Daugherty Phenotypes for gene: VPS13D were changed from spastic ataxia to Spinocerebellar ataxia, autosomal recessive 4, 607317
Adult onset neurodegenerative disorder v0.102 RAB3GAP2 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.100 KLC4 Rebecca Foulger Phenotypes for gene: KLC4 were changed from spastic paraplegia to spastic paraplegia; progressive complicated spastic paraplegia
Adult onset neurodegenerative disorder v0.99 KLC4 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.98 KDM5C Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.97 KDM5C Rebecca Foulger Phenotypes for gene: KDM5C were changed from Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism
Adult onset neurodegenerative disorder v0.96 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.95 HACE1 Rebecca Foulger Phenotypes for gene: HACE1 were changed from Spastic paraplegia; psychomotor retardation; seizure to Spastic paraplegia; psychomotor retardation; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756
Adult onset neurodegenerative disorder v0.94 ERLIN1 Rebecca Foulger Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia; Spastic paraplegia 62, 615681
Adult onset neurodegenerative disorder v0.93 DARS Rebecca Foulger Phenotypes for gene: DARS were changed from Brain stem and spinal cord Hypomyelination; leg spasticity to Brain stem and spinal cord Hypomyelination; leg spasticity; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Adult onset neurodegenerative disorder v0.92 DARS Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.91 CYP27A1 Rebecca Foulger Phenotypes for gene: CYP27A1 were changed from Dystonia; 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
Adult onset neurodegenerative disorder v0.89 ATP13A2 Rebecca Foulger Phenotypes for gene: ATP13A2 were changed from Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb syndrome; Kufor-Rakeb Syndrome; Parkinson disease; Adult-onset lower-limb predominant spastic paraparesis to Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb syndrome; Kufor-Rakeb Syndrome; Parkinson disease; Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia
Adult onset neurodegenerative disorder v0.87 ARG1 Louise Daugherty Phenotypes for gene: ARG1 were changed from Argininaemia 207800; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Adult onset neurodegenerative disorder v0.86 ARG1 Louise Daugherty Phenotypes for gene: ARG1 were changed from Argininaemia, 207800; Progressive spastic tetraplegia to Argininaemia 207800; Progressive spastic tetraplegia
Adult onset neurodegenerative disorder v0.85 ARG1 Rebecca Foulger Phenotypes for gene: ARG1 were changed from Argininaemia; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Adult onset neurodegenerative disorder v0.83 ARG1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.81 ABCD1 Rebecca Foulger Phenotypes for gene: ABCD1 were changed from Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation to Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis
Adult onset neurodegenerative disorder v0.80 ABCD1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.74 ATXN10_ATTCT Louise Daugherty STR: ATXN10_ATTCT was added
STR: ATXN10_ATTCT was added to Neurodegenerative disorders - adult 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 v1.143, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Hereditary ataxia v1.150
Sources: Expert list
Adult onset neurodegenerative disorder v0.72 ATXN1_CAG Louise Daugherty STR: ATXN1_CAG was added
STR: ATXN1_CAG was added to Neurodegenerative disorders - adult 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 ataxia v1.150, Hereditary spastic paraplegia v1.143, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Parkinson Disease and Complex Parkinsonism v1.64.
Sources: Expert list
Adult onset neurodegenerative disorder v0.70 ATXN2_CAG Louise Daugherty STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Neurodegenerative disorders - adult 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 ataxia v1.150, Hereditary spastic paraplegia v1.143, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64.
Sources: Expert list
Adult onset neurodegenerative disorder v0.67 ALS2 Louise Daugherty Phenotypes for gene: ALS2 were changed from 607225; Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100; Amyotrophic Lateral Sclerosis, Recessive to Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100; Amyotrophic Lateral Sclerosis, Recessive
Adult onset neurodegenerative disorder v0.65 ATXN3_CAG Louise Daugherty STR: ATXN3_CAG was added
STR: ATXN3_CAG was added to Neurodegenerative disorders - adult 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 : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64, Hereditary ataxia v1.150, Hereditary spastic paraplegia v1.143.
Sources: Expert list
Adult onset neurodegenerative disorder v0.61 FXN_GAA Louise Daugherty STR: FXN_GAA was added
STR: FXN_GAA was added to Neurodegenerative disorders - adult 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 v1.143, Hereditary ataxia v1.150
Sources: Expert list
Adult onset neurodegenerative disorder v0.59 HTT_CAG Louise Daugherty STR: HTT_CAG was added
STR: HTT_CAG was added to Neurodegenerative disorders - adult 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 v1.143, Parkinson Disease and Complex Parkinsonism v1.64, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Hereditary ataxia v1.150
Sources: Expert list
Adult onset neurodegenerative disorder v0.57 ATXN7_CAG Louise Daugherty STR: ATXN7_CAG was added
STR: ATXN7_CAG was added to Neurodegenerative disorders - adult 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 v1.141, Hereditary ataxia v1.148.
Sources: Expert list
Adult onset neurodegenerative disorder v0.53 CACNA1A_CAG Louise Daugherty STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Neurodegenerative disorders - adult 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 ataxia v1.148, Brain channelopathy v1.46, Hereditary spastic paraplegia v1.141.
Sources: Expert list
Adult onset neurodegenerative disorder v0.38 PPP2R2B_CAG Louise Daugherty STR: PPP2R2B_CAG was added
STR: PPP2R2B_CAG was added to Neurodegenerative disorders - adult 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
Publications for STR: PPP2R2B_CAG were set to 20301381
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 : Parkinson Disease and Complex Parkinsonism v1.64, Hereditary spastic paraplegia v1.141, Hereditary ataxia v1.148
Sources: Expert list
Adult onset neurodegenerative disorder v0.36 TBP_CAG Louise Daugherty STR: TBP_CAG was added
STR: TBP_CAG was added to Neurodegenerative disorders - adult 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
Publications for STR: TBP_CAG were set to 20301611
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 ataxia v1.148, Parkinson Disease and Complex Parkinsonism v1.64, Hereditary spastic paraplegia v1.141, Brain channelopathy v1.46, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45
Sources: Expert list
Adult onset neurodegenerative disorder v0.27 SLC2A1 Rebecca Foulger Phenotypes for gene: SLC2A1 were changed from GLUT1 DEFICIENCY SYNDROME 1; dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe; EPILEPSY, IDIOPATHIC GENERALIZED; Dystonia; GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2 to GLUT1 DEFICIENCY SYNDROME 1; dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe; EPILEPSY, IDIOPATHIC GENERALIZED; Dystonia; GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; spastic paraplegia
Adult onset neurodegenerative disorder v0.24 RAB3GAP2 Rebecca Foulger gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
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
Adult onset neurodegenerative disorder v0.22 LYST Rebecca Foulger Phenotypes for gene: LYST were changed from Chediak-Higashi syndrome 214500; peripheral neuropathy; Parkinsonism; albinism to Chediak-Higashi syndrome 214500; peripheral neuropathy; Parkinsonism; albinism; spastic paraplegia
Adult onset neurodegenerative disorder v0.20 KLC4 Rebecca Foulger gene: KLC4 was added
gene: KLC4 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
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
Adult onset neurodegenerative disorder v0.18 KDM5C Rebecca Foulger gene: KDM5C was added
gene: KDM5C was added to Neurodegenerative disorders - adult onset. Sources: Expert list
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 10982473; 15586325; 26919706
Phenotypes for gene: KDM5C were set to Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism
Adult onset neurodegenerative disorder v0.16 HACE1 Rebecca Foulger gene: HACE1 was added
gene: HACE1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HACE1 were set to 26424145; 26437029
Phenotypes for gene: HACE1 were set to Spastic paraplegia; psychomotor retardation; seizure
Adult onset neurodegenerative disorder v0.14 ERLIN1 Rebecca Foulger gene: ERLIN1 was added
gene: ERLIN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
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
Adult onset neurodegenerative disorder v0.12 DARS Rebecca Foulger gene: DARS was added
gene: DARS was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS were set to 23643384; 25527264
Phenotypes for gene: DARS were set to Brain stem and spinal cord Hypomyelination; leg spasticity
Adult onset neurodegenerative disorder v0.11 CYP27A1 Rebecca Foulger Phenotypes for gene: CYP27A1 were changed from Dystonia to Dystonia; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Adult onset neurodegenerative disorder v0.9 ATP13A2 Rebecca Foulger Phenotypes for gene: ATP13A2 were changed from Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb syndrome; Kufor-Rakeb Syndrome; Parkinson disease to Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb syndrome; Kufor-Rakeb Syndrome; Parkinson disease; Adult-onset lower-limb predominant spastic paraparesis
Adult onset neurodegenerative disorder v0.6 ARG1 Rebecca Foulger gene: ARG1 was added
gene: ARG1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 26310552; 23859858
Phenotypes for gene: ARG1 were set to Argininaemia; Progressive spastic tetraplegia
Adult onset neurodegenerative disorder v0.4 ABCD1 Rebecca Foulger gene: ABCD1 was added
gene: ABCD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
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)
Publications for gene: ABCD1 were set to 11810273; 27084228; 11739809; 26049658
Phenotypes for gene: ABCD1 were set to Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation
Adult onset neurodegenerative disorder v0.2 ZFYVE27 Rebecca Foulger gene: ZFYVE27 was added
gene: ZFYVE27 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
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
Adult onset neurodegenerative disorder v0.2 ZFYVE26 Rebecca Foulger Added phenotypes Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia. for gene: ZFYVE26
Adult onset neurodegenerative disorder v0.2 ZFYVE26 Rebecca Foulger gene: ZFYVE26 was added
gene: ZFYVE26 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to PMID:25497598; 25842392; Hanein et al. (2008)
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive
Adult onset neurodegenerative disorder v0.2 WDR45B Rebecca Foulger gene: WDR45B was added
gene: WDR45B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
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.
Adult onset neurodegenerative disorder v0.2 WASHC5 Rebecca Foulger gene: WASHC5 was added
gene: WASHC5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
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
Adult onset neurodegenerative disorder v0.2 VPS37A Rebecca Foulger Added phenotypes Spastic paraplegia 53, autosomal recessive for gene: VPS37A
Adult onset neurodegenerative disorder v0.2 VPS13D Rebecca Foulger gene: VPS13D was added
gene: VPS13D was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13D were set to spastic ataxia
Adult onset neurodegenerative disorder v0.2 VAMP1 Rebecca Foulger Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
Adult onset neurodegenerative disorder v0.2 VAMP1 Rebecca Foulger gene: VAMP1 was added
gene: VAMP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
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
Adult onset neurodegenerative disorder v0.2 TECPR2 Rebecca Foulger gene: TECPR2 was added
gene: TECPR2 was added to Neurodegenerative disorders - adult onset. Sources: 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
Adult onset neurodegenerative disorder v0.2 SPG7 Rebecca Foulger Added phenotypes Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia for gene: SPG7
Adult onset neurodegenerative disorder v0.2 SPG7 Rebecca Foulger gene: SPG7 was added
gene: SPG7 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG7 were set to PMID: 25681447; Casari et al (1998)
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive
Adult onset neurodegenerative disorder v0.2 SPG21 Rebecca Foulger gene: SPG21 was added
gene: SPG21 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
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
Adult onset neurodegenerative disorder v0.2 SPG11 Rebecca Foulger Added phenotypes early onset parkinsonism, levo dopa responsve; Complex parkinsonism; hereditary spastic paraparesis; Early Onset Complex Disease for gene: SPG11
Adult onset neurodegenerative disorder v0.2 SPG11 Rebecca Foulger gene: SPG11 was added
gene: SPG11 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 19224311; 27820618; Stevanin et al. (2007); 21381113
Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive
Adult onset neurodegenerative disorder v0.2 SPAST Rebecca Foulger gene: SPAST was added
gene: SPAST was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
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
Adult onset neurodegenerative disorder v0.2 SLC33A1 Rebecca Foulger gene: SLC33A1 was added
gene: SLC33A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
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,
Adult onset neurodegenerative disorder v0.2 SLC1A4 Rebecca Foulger gene: SLC1A4 was added
gene: SLC1A4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 29989513; 26138499; 27193218; 26041762; 25930971
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Adult onset neurodegenerative disorder v0.2 SACS Rebecca Foulger Added phenotypes Spastic ataxia, Charlevoix-Saguenay type for gene: SACS
Adult onset neurodegenerative disorder v0.2 SACS Rebecca Foulger gene: SACS was added
gene: SACS was added to Neurodegenerative disorders - adult onset. Sources: 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
Adult onset neurodegenerative disorder v0.2 RTN2 Rebecca Foulger gene: RTN2 was added
gene: RTN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
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
Adult onset neurodegenerative disorder v0.2 REEP2 Rebecca Foulger gene: REEP2 was added
gene: REEP2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
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
Adult onset neurodegenerative disorder v0.2 REEP1 Rebecca Foulger gene: REEP1 was added
gene: REEP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
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
Adult onset neurodegenerative disorder v0.2 PSEN1 Rebecca Foulger Added phenotypes Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; Alzheimer disease, type 3, with spastic paraparesis and apraxia for gene: PSEN1
Adult onset neurodegenerative disorder v0.2 PSEN1 Rebecca Foulger gene: PSEN1 was added
gene: PSEN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSEN1 were set to 22503161; 23028126
Phenotypes for gene: PSEN1 were set to Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Dementia, frontotemporal, 600274; Pick disease, 172700; Clinical syndrome Alzheimer disease; Alzheimer disease, type 3, 607822; Cardiomyopathy, dilated, 1U, 613694
Adult onset neurodegenerative disorder v0.2 PNPLA6 Rebecca Foulger Added phenotypes Spastic paraplegia 39, autosomal recessive for gene: PNPLA6
Adult onset neurodegenerative disorder v0.2 PNPLA6 Rebecca Foulger gene: PNPLA6 was added
gene: PNPLA6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
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 Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470); Oliver-McFarlane syndrome (#603197); Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
Adult onset neurodegenerative disorder v0.2 PLP1 Rebecca Foulger gene: PLP1 was added
gene: PLP1 was added to Neurodegenerative disorders - adult onset. Sources: 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
Adult onset neurodegenerative disorder v0.2 PEX16 Rebecca Foulger gene: PEX16 was added
gene: PEX16 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Zellweger syndrome (614876); Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
Adult onset neurodegenerative disorder v0.2 PAX2 Rebecca Foulger gene: PAX2 was added
gene: PAX2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PAX2 was set to Unknown
Phenotypes for gene: PAX2 were set to Ataxia,spastic2,autosomalrecessive(2)
Adult onset neurodegenerative disorder v0.2 NT5C2 Rebecca Foulger gene: NT5C2 was added
gene: NT5C2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5C2 were set to 28884889; 24482476; 29123918; 28327087
Phenotypes for gene: NT5C2 were set to Spasticparaplegia45, autosomal recessive 613162
Adult onset neurodegenerative disorder v0.2 NKX6-2 Rebecca Foulger Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 for gene: NKX6-2
Adult onset neurodegenerative disorder v0.2 NKX6-2 Rebecca Foulger Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 for gene: NKX6-2
Adult onset neurodegenerative disorder v0.2 NKX6-2 Rebecca Foulger gene: NKX6-2 was added
gene: NKX6-2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
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
Adult onset neurodegenerative disorder v0.2 NIPA1 Rebecca Foulger gene: NIPA1 was added
gene: NIPA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
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 Spastic paraplegia 6, autosomal dominant; Spasticparaplegia6,autosomaldominant,600363
Adult onset neurodegenerative disorder v0.2 MTPAP Rebecca Foulger Added phenotypes Ataxia, spastic, 4, for gene: MTPAP
Adult onset neurodegenerative disorder v0.2 MTPAP Rebecca Foulger gene: MTPAP was added
gene: MTPAP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTPAP were set to Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive
Adult onset neurodegenerative disorder v0.2 MARS2 Rebecca Foulger Added phenotypes Spastic ataxia 3, autosomal recessive for gene: MARS2
Adult onset neurodegenerative disorder v0.2 MARS2 Rebecca Foulger gene: MARS2 was added
gene: MARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS2 were set to PubMed: 22448145
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive
Adult onset neurodegenerative disorder v0.2 MAG Rebecca Foulger gene: MAG was added
gene: MAG was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
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
Adult onset neurodegenerative disorder v0.2 L1CAM Rebecca Foulger gene: L1CAM was added
gene: L1CAM was added to Neurodegenerative disorders - adult onset. Sources: 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
Adult onset neurodegenerative disorder v0.2 KIF5A Rebecca Foulger gene: KIF5A was added
gene: KIF5A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
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
Adult onset neurodegenerative disorder v0.2 KIF1C Rebecca Foulger Added phenotypes Spastic ataxia 2,autosomal recessive for gene: KIF1C
Adult onset neurodegenerative disorder v0.2 KIF1C Rebecca Foulger gene: KIF1C was added
gene: KIF1C was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1C were set to 24482476; 17273843; 24319291
Phenotypes for gene: KIF1C were set to Spastic ataxia 2,autosomal recessive
Adult onset neurodegenerative disorder v0.2 KIF1A Rebecca Foulger gene: KIF1A was added
gene: KIF1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
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
Adult onset neurodegenerative disorder v0.2 KIDINS220 Rebecca Foulger gene: KIDINS220 was added
gene: KIDINS220 was added to Neurodegenerative disorders - adult onset. Sources: 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
Adult onset neurodegenerative disorder v0.2 IBA57 Rebecca Foulger gene: IBA57 was added
gene: IBA57 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IBA57 were set to 25609768; 30258207
Phenotypes for gene: IBA57 were set to ?Spastic paraplegia 74, autosomal recessive, 616451
Adult onset neurodegenerative disorder v0.2 HSPD1 Rebecca Foulger gene: HSPD1 was added
gene: HSPD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
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
Adult onset neurodegenerative disorder v0.2 GJC2 Rebecca Foulger Added phenotypes Spastic paraplegia 44, autosomal recessive for gene: GJC2
Adult onset neurodegenerative disorder v0.2 GCH1 Rebecca Foulger Source Expert Review Amber was added to GCH1.
Added phenotypes Dystonia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; progressive spastic paraplegia; Spastic paraplegia for gene: GCH1
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v0.2 GBA2 Rebecca Foulger gene: GBA2 was added
gene: GBA2 was added to Neurodegenerative disorders - adult onset. Sources: 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
Adult onset neurodegenerative disorder v0.2 GAD1 Rebecca Foulger gene: GAD1 was added
gene: GAD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: GAD1 was set to Unknown
Phenotypes for gene: GAD1 were set to Cerebralpalsy,spasticquadriplegic,1,603513
Adult onset neurodegenerative disorder v0.2 FARS2 Rebecca Foulger gene: FARS2 was added
gene: FARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARS2 were set to 26553276; 29126765; 30250868; 25851414
Phenotypes for gene: FARS2 were set to Spastic paraplegia 77, autosomal recessive, 617046
Adult onset neurodegenerative disorder v0.2 FA2H Rebecca Foulger Added phenotypes Spastic paraplegia 35, autosomal recessive for gene: FA2H
Adult onset neurodegenerative disorder v0.2 ERLIN2 Rebecca Foulger gene: ERLIN2 was added
gene: ERLIN2 was added to Neurodegenerative disorders - adult onset. Sources: 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 21796390; 21330303; 23085305; 27824013; 25977983; 29528531; 23897027; 23109142; 28832565; 22554690; 23109145
Phenotypes for gene: ERLIN2 were set to neurodegeneration; hereditary spastic paraplegia; Spastic paraplegia 18, autosomal recessive, 611225; Spastic paraplegia, autosomal dominant
Adult onset neurodegenerative disorder v0.2 ENTPD1 Rebecca Foulger gene: ENTPD1 was added
gene: ENTPD1 was added to Neurodegenerative disorders - adult onset. Sources: 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
Adult onset neurodegenerative disorder v0.2 DSTYK Rebecca Foulger gene: DSTYK was added
gene: DSTYK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
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
Adult onset neurodegenerative disorder v0.2 DDHD2 Rebecca Foulger gene: DDHD2 was added
gene: DDHD2 was added to Neurodegenerative disorders - adult onset. Sources: 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
Adult onset neurodegenerative disorder v0.2 DDHD1 Rebecca Foulger gene: DDHD1 was added
gene: DDHD1 was added to Neurodegenerative disorders - adult onset. Sources: 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
Adult onset neurodegenerative disorder v0.2 CYP7B1 Rebecca Foulger gene: CYP7B1 was added
gene: CYP7B1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
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
Adult onset neurodegenerative disorder v0.2 CYP2U1 Rebecca Foulger Added phenotypes Spastic paraplegia 56, autosomal recessive for gene: CYP2U1
Adult onset neurodegenerative disorder v0.2 CYP2U1 Rebecca Foulger gene: CYP2U1 was added
gene: CYP2U1 was added to Neurodegenerative disorders - adult onset. Sources: 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 Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients.
Adult onset neurodegenerative disorder v0.2 CSF1R Rebecca Foulger Added phenotypes dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; diffuse leukoencephalopathy with spheroids for gene: CSF1R
Adult onset neurodegenerative disorder v0.2 CDK16 Rebecca Foulger gene: CDK16 was added
gene: CDK16 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
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 26350204; 25644381
Phenotypes for gene: CDK16 were set to Intellectual disability and spastic paraplegia
Adult onset neurodegenerative disorder v0.2 CCT5 Rebecca Foulger gene: CCT5 was added
gene: CCT5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
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
Adult onset neurodegenerative disorder v0.2 CAPN1 Rebecca Foulger gene: CAPN1 was added
gene: CAPN1 was added to Neurodegenerative disorders - adult onset. Sources: 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
Adult onset neurodegenerative disorder v0.2 C12orf65 Rebecca Foulger gene: C12orf65 was added
gene: C12orf65 was added to Neurodegenerative disorders - adult onset. Sources: 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
Adult onset neurodegenerative disorder v0.2 BSCL2 Rebecca Foulger gene: BSCL2 was added
gene: BSCL2 was added to Neurodegenerative disorders - adult onset. Sources: 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,
Adult onset neurodegenerative disorder v0.2 B4GALNT1 Rebecca Foulger gene: B4GALNT1 was added
gene: B4GALNT1 was added to Neurodegenerative disorders - adult onset. Sources: 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
Adult onset neurodegenerative disorder v0.2 ATP6AP2 Rebecca Foulger gene: ATP6AP2 was added
gene: ATP6AP2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP6AP2 were set to 23595882
Phenotypes for gene: ATP6AP2 were set to ?Parkinsonism with spasticity, X-linked 300911; Mental retardation, X-linked, syndromic, Hedera type 300423
Adult onset neurodegenerative disorder v0.2 ATL1 Rebecca Foulger gene: ATL1 was added
gene: ATL1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
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, Dominant; Spastic paraplegia 3A, autosomal dominant
Adult onset neurodegenerative disorder v0.2 AP5Z1 Rebecca Foulger gene: AP5Z1 was added
gene: AP5Z1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
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, Recessive; Spastic paraplegia 48, autosomal recessive
Adult onset neurodegenerative disorder v0.2 AP4S1 Rebecca Foulger gene: AP4S1 was added
gene: AP4S1 was added to Neurodegenerative disorders - adult onset. Sources: 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 developmental delay; seizures; Spastic paraplegia 52, autosomal recessive
Adult onset neurodegenerative disorder v0.2 AP4M1 Rebecca Foulger gene: AP4M1 was added
gene: AP4M1 was added to Neurodegenerative disorders - adult onset. Sources: 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
Adult onset neurodegenerative disorder v0.2 AP4E1 Rebecca Foulger gene: AP4E1 was added
gene: AP4E1 was added to Neurodegenerative disorders - adult onset. Sources: 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
Adult onset neurodegenerative disorder v0.2 AP4B1 Rebecca Foulger gene: AP4B1 was added
gene: AP4B1 was added to Neurodegenerative disorders - adult onset. Sources: 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
Adult onset neurodegenerative disorder v0.2 AMPD2 Rebecca Foulger Added phenotypes Pontocerebellar hypolplasia (biallelic); Hereditary Spastic Paraplegia? for gene: AMPD2
Adult onset neurodegenerative disorder v0.2 AMPD2 Rebecca Foulger gene: AMPD2 was added
gene: AMPD2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to Novarino et al. (2014); PMID: 24482476
Phenotypes for gene: AMPD2 were set to Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).; Pontocerebellar hypoplasia 9 (#615809)
Adult onset neurodegenerative disorder v0.2 ALS2 Rebecca Foulger gene: ALS2 was added
gene: ALS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALS2 were set to 12145748; 23881933; 25474699; 24503148
Phenotypes for gene: ALS2 were set to Spastic paralysis, infantile onset ascending, 607225; Amyotrophic Lateral Sclerosis, Recessive; Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary lateral sclerosis, juvenile, 606353
Adult onset neurodegenerative disorder v0.2 ALDH18A1 Rebecca Foulger gene: ALDH18A1 was added
gene: ALDH18A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to Spastic paraplegia 9A, autosomal dominant; 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; SPG9
Adult onset neurodegenerative disorder v0.2 AFG3L2 Rebecca Foulger Added phenotypes Spinocerebellar ataxia 28; Spinocerebellar Ataxia, Dominant; Ataxia, spastic, 5, autosomal recessive for gene: AFG3L2
Adult onset neurodegenerative disorder v0.2 AFG3L2 Rebecca Foulger gene: AFG3L2 was added
gene: AFG3L2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AFG3L2 were set to Ataxia, spastic, 5, autosomal recessive; Spastic ataxia 5, autosomal recessive