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23 Aug 2023	Adult onset hereditary spastic paraplegia v3.17	COQ4	Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Adult-onset ataxia-spasticity spectrum disease; Hereditary spastic paraparesis, MONDO:0019064; Cerebellar ataxia, MONDO:0000437 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
15 Aug 2023	Adult onset hereditary spastic paraplegia v3.16	SPTAN1	Sarah Leigh Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064 to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277
28 Jul 2023	Adult onset hereditary spastic paraplegia v3.12	UCHL1	Sarah Leigh edited their review of gene: UCHL1: Added comment: Spasticity was reported in at least six families carrying heterozygous UCHL1 variants (PMID: 35986737, figure 2 & table S5). Overall, the disease onset for Spastic paraplegia 79A, autosomal dominant, OMIM:620221 had a median of 49 years (12-70years).; Changed rating: GREEN; Changed publications to: 35986737
28 Jul 2023	Adult onset hereditary spastic paraplegia v3.12	UCHL1	Sarah Leigh Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221 to Spastic paraplegia 79B, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221
28 Jul 2023	Adult onset hereditary spastic paraplegia v3.11	UCHL1	Sarah Leigh Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209 to Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221
31 May 2023	Adult onset hereditary spastic paraplegia v3.3	PRNP	James Polke gene: PRNP was added gene: PRNP was added to Adult onset hereditary spastic paraplegia. Sources: NHS GMS Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRNP were set to 30240140; 8250529; 34746379; 28195350 Phenotypes for gene: PRNP were set to HSP; Gerstmann–Sträussler–Scheinker disease Penetrance for gene: PRNP were set to Complete Mode of pathogenicity for gene: PRNP was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: PRNP was set to GREEN gene: PRNP was marked as current diagnostic Added comment: HSP can be a rare presenting phenotype for some individuals with inherited prion disease. Sources: NHS GMS
11 Apr 2023	Adult onset hereditary spastic paraplegia v3.2	SPG7	Sarah Leigh Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, 607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
22 Mar 2023	Adult onset hereditary spastic paraplegia v2.26		Arina Puzriakova Panel name changed from Adult onset hereditary spastic paraplegia. to Adult onset hereditary spastic paraplegia
22 Mar 2023	Adult onset hereditary spastic paraplegia v2.25		Eleanor Williams List of related panels changed from Adult onset hereditary spastic paraplegia; Hereditary spastic paraplegia - adult onset; R60 to Hereditary spastic paraplegia - adult onset; R60
22 Mar 2023	Adult onset hereditary spastic paraplegia v2.24		Eleanor Williams List of related panels changed from R60; Adult onset hereditary spastic paraplegia; Hereditary spastic paraplegia - adult onset to Adult onset hereditary spastic paraplegia; Hereditary spastic paraplegia - adult onset; R60
22 Mar 2023	Adult onset hereditary spastic paraplegia v2.23		Eleanor Williams Panel name changed from Hereditary spastic paraplegia - adult onset to Adult onset hereditary spastic paraplegia.
22 Mar 2023	Adult onset hereditary spastic paraplegia v2.22		Eleanor Williams List of related panels changed from R60; Adult onset hereditary spastic paraplegia to R60; Adult onset hereditary spastic paraplegia; Hereditary spastic paraplegia - adult onset
14 Mar 2023	Adult onset hereditary spastic paraplegia v2.17	SPAST	Sarah Leigh Phenotypes for gene: SPAST were changed from Spastic paraplegia 4, autosomal dominant, 182601 to Spastic paraplegia 4, autosomal dominant, OMIM:182601; hereditary spastic paraplegia 4, MONDO:0008438
27 Feb 2023	Adult onset hereditary spastic paraplegia v2.13	MAG	Arina Puzriakova Phenotypes for gene: MAG were changed from Spastic paraplegia 75, autosomal recessive, 616680 to Spastic paraplegia 75, autosomal recessive, OMIM:616680
15 Feb 2023	Adult onset hereditary spastic paraplegia v2.12	SPAST	Achchuthan Shanmugasundram Publications for gene: SPAST were set to 16240363; 15248095
06 Feb 2023	Adult onset hereditary spastic paraplegia v2.9	SPTAN1	Achchuthan Shanmugasundram changed review comment from: Comment on classification: This gene should be rated Green as there are several unrelated cases (many more than three cases identified with different variants) from multiple ethnicities reported with spastic paraplegia and supported by functional studies. OMIM reports Developmental and epileptic encephalopathy 5 (OMIM #613477) as a phenotype for SPTAN1 variants. Spastic quadriplegia is one of the clinical manifestations that has been reported as part of this phenotype. Two of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia, while it has also been reported in one year old male from PMID:22656320 and two patients from PMID:18065176. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, fifteen patients from seven families displaying p.Arg19Trp variant were reported with hereditary spastic paraplegia with age of onset ranging from congenital to adolescence, while three other patients displaying other variants (p.Arg1624Cys, p.Arg1098Cys & p.Gln2205Pro) displayed different extremes of spastic ataxia spectrum. In PMID:36331550, authors carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify individuals with SPTAN1 variants. Statistically significant enrichment of rare probably damaging SPTAN1 variants were identified in families with hereditary ataxia (HA) or spastic paraplegia (HSP). Out of 31 individuals identified with SPTAN1 variants, five (three families) were presented with complex HA/HSP, two were presented with complex HSP and one with pure HSP. Sources: Literature; to: Comment on classification: This gene should be rated Green as there are several unrelated cases (many more than three cases identified with different variants) reported with spastic paraplegia and supported by functional studies. Both autosomal dominant and autosomal recessive variants of this gene are implicated in spastic paraplegia and at least three cases are reported for both disorders. Autosomal dominant disorder: OMIM reports Developmental and epileptic encephalopathy 5 (OMIM #613477) as a phenotype for SPTAN1 variants. Spastic quadriplegia is one of the clinical manifestations that has been reported as part of this phenotype. Two of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia, while it has also been reported in one year old male from PMID:22656320 and two patients from PMID:18065176. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, fifteen patients from seven families displaying p.Arg19Trp variant were reported with hereditary spastic paraplegia with age of onset ranging from congenital to adolescence, while three other patients displaying other variants (p.Arg1624Cys, p.Arg1098Cys & p.Gln2205Pro) displayed different extremes of spastic ataxia spectrum. In PMID:36331550, authors carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify individuals with SPTAN1 variants. Statistically significant enrichment of rare probably damaging SPTAN1 variants were identified in families with hereditary ataxia (HA) or spastic paraplegia (HSP). Out of 31 individuals identified with SPTAN1 variants, five (three families) were presented with complex HA/HSP, two were presented with complex HSP and one with pure HSP. Autosomal recessive disorder: PMID:31515523 reported two cases of juvenile/ adult-onset spastic paraplegia caused by compound heterozygous variants (p.Ala858Ser/ p.Ala1428Gly & p.Ala858Ser/ Met2330Ile). PMID:34526651 reported a female patient with juvenile/ adult-onset spastic paraplegia and was identified with homozygous missense variant p.Ile1388Val. Sources: Literature
06 Feb 2023	Adult onset hereditary spastic paraplegia v2.8	SPTAN1	Achchuthan Shanmugasundram gene: SPTAN1 was added gene: SPTAN1 was added to Hereditary spastic paraplegia - adult onset. Sources: Literature Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTAN1 were set to 18065176; 20493457; 22656320; 35150594; 36331550 Phenotypes for gene: SPTAN1 were set to Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064 Review for gene: SPTAN1 was set to GREEN Added comment: Comment on classification: This gene should be rated Green as there are several unrelated cases (many more than three cases identified with different variants) from multiple ethnicities reported with spastic paraplegia and supported by functional studies. OMIM reports Developmental and epileptic encephalopathy 5 (OMIM #613477) as a phenotype for SPTAN1 variants. Spastic quadriplegia is one of the clinical manifestations that has been reported as part of this phenotype. Two of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia, while it has also been reported in one year old male from PMID:22656320 and two patients from PMID:18065176. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, fifteen patients from seven families displaying p.Arg19Trp variant were reported with hereditary spastic paraplegia with age of onset ranging from congenital to adolescence, while three other patients displaying other variants (p.Arg1624Cys, p.Arg1098Cys & p.Gln2205Pro) displayed different extremes of spastic ataxia spectrum. In PMID:36331550, authors carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify individuals with SPTAN1 variants. Statistically significant enrichment of rare probably damaging SPTAN1 variants were identified in families with hereditary ataxia (HA) or spastic paraplegia (HSP). Out of 31 individuals identified with SPTAN1 variants, five (three families) were presented with complex HA/HSP, two were presented with complex HSP and one with pure HSP. Sources: Literature
17 Jan 2023	Adult onset hereditary spastic paraplegia v2.5	UCHL1	Sarah Leigh Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, OMIM:615491 to Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209
17 Jan 2023	Adult onset hereditary spastic paraplegia v2.4	UCHL1	Sarah Leigh edited their review of gene: UCHL1: Added comment: In addition to previous reports of Spastic paraplegia 79, autosomal recessive (OMIM:615491), PMID: 35986737 reports a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy in cases with heterozygous UCHL1 variants. The variants included 13 heterozygous loss-of-function variants (15 families) and a heterozygous in-frame insertion (3 families). The affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17), it was also noted in PMID: 35986737 that the condition onset in dominant cases was median 49 years (12-70 years) and in recessive was 7.5 years (2-10 years).; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
10 Dec 2022	Adult onset hereditary spastic paraplegia v2.2	COQ4	Achchuthan Shanmugasundram gene: COQ4 was added gene: COQ4 was added to Hereditary spastic paraplegia - adult onset. Sources: Literature Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ4 were set to 36047608 Phenotypes for gene: COQ4 were set to Adult-onset ataxia-spasticity spectrum disease; Hereditary spastic paraparesis, MONDO:0019064; Cerebellar ataxia, MONDO:0000437 Review for gene: COQ4 was set to GREEN Added comment: Comment on classification of this gene: The rating for this gene should be added as GREEN, as this gene has been implicated in adult onset hereditary spastic paraplegia, as identified from biallelic variants from three unrelated individuals. Six patients from four families with bi-allelic variants were reported with adult-Onset ataxia-spasticity spectrum phenotype. Out of these, three patients (c.305G>A & c.473G>A, c.434G>A & c.437T>G, c.376G>A & c.473G>A) were identified with hereditary spastic paraparesis and their age of onset ranged from 15 to 24 (PMID:36047608). COQ4 was not associated with hereditary spastic paraparesis in OMIM or Gene2Phenotype. However, functional studies performed in patient-derived fibroblasts, yeasts and zebrafish larvae confirms the role of COQ4 in brain development. The coq4 F0 CRISPR zebrafish line particularly showed motor defects and cell reduction in a specific area of the hindbrain, a region reminiscent of the human cerebellum (PMID:33704555). Sources: Literature
14 Nov 2022	Adult onset hereditary spastic paraplegia v1.104	KDM5C	Arina Puzriakova Phenotypes for gene: KDM5C were changed from Intellectual disability; developmental delay; epilepsy; progressive spasticity; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; hypothyroidism to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, OMIM:300534
19 Apr 2022	Adult onset hereditary spastic paraplegia v1.102	AFG3L2	Arina Puzriakova Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450 to Spastic ataxia 5, autosomal recessive, OMIM:614487
13 Apr 2022	Adult onset hereditary spastic paraplegia v1.99	HSPD1	Arina Puzriakova reviewed gene: HSPD1: Rating: ; Mode of pathogenicity: None; Publications: 10677329, 11898127, 17420924; Phenotypes: Spastic paraplegia 13, autosomal dominant, OMIM:605280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Apr 2022	Adult onset hereditary spastic paraplegia v1.99	HSPD1	Arina Puzriakova Phenotypes for gene: HSPD1 were changed from Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280 to Spastic paraplegia 13, autosomal dominant, OMIM:605280
07 Apr 2022	Adult onset hereditary spastic paraplegia v1.97	C19orf12	Sarah Leigh Phenotypes for gene: C19orf12 were changed from Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 to ?Spastic paraplegia 43, autosomal recessive, OMIM:615043; Neurodegeneration with brain iron accumulation 4, OMIM: 614298
29 Nov 2021	Adult onset hereditary spastic paraplegia v1.88	RAB3GAP2	Arina Puzriakova Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia; Warburg micro syndrome 2, 614225 to Warburg micro syndrome 2, OMIM:614225
24 Nov 2021	Adult onset hereditary spastic paraplegia v1.87	IBA57	Arina Puzriakova Phenotypes for gene: IBA57 were changed from ?Spastic paraplegia 74, autosomal recessive, 616451 to ?Spastic paraplegia 74, autosomal recessive, OMIM:616451
22 Nov 2021	Adult onset hereditary spastic paraplegia v1.85	CPT1C	Arina Puzriakova Phenotypes for gene: CPT1C were changed from ?Spastic paraplegia 73, autosomal dominant, 616282 to Spastic paraplegia 73, autosomal dominant, OMIM:616282
18 Nov 2021	Adult onset hereditary spastic paraplegia v1.84	KIDINS220	Arina Puzriakova Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296
15 Oct 2021	Adult onset hereditary spastic paraplegia v1.73	BSCL2	Arina Puzriakova Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, OMIM:270685 to Silver spastic paraplegia syndrome, OMIM:270685; Neuropathy, distal hereditary motor, type VC, OMIM:619112
01 Sep 2021	Adult onset hereditary spastic paraplegia v1.72	GJA1	Arina Puzriakova changed review comment from: Progressive neurological symptoms are occasionally seen in ODDD due to degeneration of the white matter tracts and can include spastic paraplegia. Gait disturbances due to spasticity can be a presenting feature for which patients initially seek medical attention. Typically signs of spasticity arise in adulthood (PMID: 18660473; 22214631; 29927410; 31023660; 33190326; 33612672); however, several adolescent onset cases (PMID: 18660473; 31023660) have also been described and I could only find a single childhood-onset case with spasticity arising at age 8 (PMID: 29927410). Overall there is enough evidence to rate as Green on both the adult and childhood-onset HSP panels to ensure identification of all cases. >10 unrelated families reported in literature.; to: Progressive neurological symptoms are occasionally seen in ODDD due to degeneration of the white matter tracts and can include spastic paraplegia. Gait disturbances due to spasticity can be a presenting feature for which patients initially seek medical attention. Typically signs of spasticity arise in adulthood (PMID: 18660473; 22214631; 29927410; 31023660; 33190326; 33612672); however, several adolescent onset cases (PMID: 18660473; 31023660) have also been described and I could only find a single childhood-onset case with spasticity arising at age 8 (PMID: 29927410). Overall there is enough evidence to rate as Green on the adult-onset HSP panel (>10 unrelated families reported in literature). I will seek further clinical opinion with regard to inclusion on the childhood-onset panel given the implications of carrier status being found incidentally for this primarily adult-onset condition.
01 Sep 2021	Adult onset hereditary spastic paraplegia v1.70	GJA1	Arina Puzriakova Phenotypes for gene: GJA1 were changed from Hereditary spastic paraplegia; Oculodentodigital dysplasia, MIM#164200 to Oculodentodigital dysplasia, OMIM:164200; Spastic paraplegia
31 Aug 2021	Adult onset hereditary spastic paraplegia v1.68	SLC25A15	Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association. Spasticity can be a predominant presenting feature, and inclusion on the adult onset panel would ensure later onset, as well as edge cases are identified. SLC25A15 should be promoted to Green at the next GMS panel update.
26 Aug 2021	Adult onset hereditary spastic paraplegia v1.65	GBE1	Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM. There is enough evidence to support a gene-disease association. GBE1 should be rated Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM. There is enough evidence to support a gene-disease association. Transgenic homozygous mice also display late-onset spastic paraplegia. GBE1 should be rated Green at the next review.
25 Aug 2021	Adult onset hereditary spastic paraplegia v1.59	CHP1	Arina Puzriakova gene: CHP1 was added gene: CHP1 was added to Hereditary spastic paraplegia - adult onset. Sources: Expert Review Amber,Literature watchlist tags were added to gene: CHP1. Mode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHP1 were set to 23904602; 29379881; 32787936 Phenotypes for gene: CHP1 were set to Spastic ataxia 9, autosomal recessive, OMIM:618438
24 Aug 2021	Adult onset hereditary spastic paraplegia v1.56	L1CAM	Arina Puzriakova Phenotypes for gene: L1CAM were changed from Hereditary spastic paraplegia, 308840; MASA syndrome, 303350; X-linked hydrocephalus, 307000 to CRASH syndrome, OMIM:303350; MASA syndrome, OMIM:303350; Hydrocephalus due to aqueductal stenosis, OMIM:307000; Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000; Hydrocephalus with Hirschsprung disease, OMIM:307000
23 Aug 2021	Adult onset hereditary spastic paraplegia v1.55	C12orf65	Arina Puzriakova Phenotypes for gene: C12orf65 were changed from Combined oxidative phosphorylation deficiency 7, OMIM:613559; Spastic paraplegia 55, autosomal recessive, OMIM:615035 to Spastic paraplegia 55, autosomal recessive, OMIM:615035
23 Aug 2021	Adult onset hereditary spastic paraplegia v1.54	C12orf65	Arina Puzriakova Phenotypes for gene: C12orf65 were changed from optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy; Combined oxidative phosphorylation deficiency 7, 613559; Spastic paraplegia 55, autosomal recessive, 615035 to Combined oxidative phosphorylation deficiency 7, OMIM:613559; Spastic paraplegia 55, autosomal recessive, OMIM:615035
23 Aug 2021	Adult onset hereditary spastic paraplegia v1.52	C12orf65	Arina Puzriakova reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383, 24284555, 24424123, 25995486, 26380172; Phenotypes: Spastic paraplegia 55, autosomal recessive, OMIM:615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Aug 2021	Adult onset hereditary spastic paraplegia v1.52	WDR45B	Arina Puzriakova reviewed gene: WDR45B: Rating: ; Mode of pathogenicity: None; Publications: 28503735; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Aug 2021	Adult onset hereditary spastic paraplegia v1.52	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. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977
23 Aug 2021	Adult onset hereditary spastic paraplegia v1.51	TFG	Arina Puzriakova Phenotypes for gene: TFG were changed from Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD; ?Spastic paraplegia 57, autosomal recessive 615658,AR to Spastic paraplegia 57, autosomal recessive, OMIM:615658
23 Aug 2021	Adult onset hereditary spastic paraplegia v1.49	TFG	Arina Puzriakova reviewed gene: TFG: Rating: ; Mode of pathogenicity: None; Publications: 23479643, 27492651, 27601211, 28124177, 29971521, 30467354, 33767317; Phenotypes: Spastic paraplegia 57, autosomal recessive, OMIM:615658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Aug 2021	Adult onset hereditary spastic paraplegia v1.48	SPART	Arina Puzriakova Phenotypes for gene: SPART were changed from Troyer syndrome; Spastic paraplegia 20, autosomal recessive to Troyer syndrome, OMIM:275900; Spastic paraplegia 20
20 Aug 2021	Adult onset hereditary spastic paraplegia v1.47	SERAC1	Arina Puzriakova changed review comment from: Review of literature did not reveal any adult onset cases - disorder presents at birth and severe spasticity becomes apparent, typically with disease progression during the infantile or childhood period. The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.; to: Review of literature did not reveal any adult onset cases - disorder presents at birth and severe spasticity becomes apparent, typically with disease progression, during the infantile or childhood period. The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.
20 Aug 2021	Adult onset hereditary spastic paraplegia v1.45	REEP2	Arina Puzriakova reviewed gene: REEP2: Rating: ; Mode of pathogenicity: None; Publications: 24388663, 24482476, 28491902, 33526816; Phenotypes: Spastic paraplegia 72, autosomal recessive, OMIM:615625, Spastic paraplegia 72, autosomal dominant, OMIM:615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Aug 2021	Adult onset hereditary spastic paraplegia v1.43	NT5C2	Arina Puzriakova reviewed gene: NT5C2: Rating: ; Mode of pathogenicity: None; Publications: 19415352, 24482476, 2832708, 28884889, 29123918, 32153630; Phenotypes: Spastic paraplegia 45, autosomal recessive, OMIM:613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Aug 2021	Adult onset hereditary spastic paraplegia v1.43	NT5C2	Arina Puzriakova Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive, 613162; Spastic paraplegia 45, autosomal recessive, 613162, AR to Spastic paraplegia 45, autosomal recessive, 613162
19 Aug 2021	Adult onset hereditary spastic paraplegia v1.42	NKX6-2	Arina Puzriakova reviewed gene: NKX6-2: Rating: ; Mode of pathogenicity: None; Publications: 28969374, 29388673, 28575651, 31509304, 32004679, 32246862; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Aug 2021	Adult onset hereditary spastic paraplegia v1.41	KIF1C	Arina Puzriakova reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24319291, 24482476, 24808017, 29544888, 31413903; Phenotypes: Spastic ataxia 2, autosomal recessive, OMIM:611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Aug 2021	Adult onset hereditary spastic paraplegia v1.40	KIDINS220	Arina Puzriakova reviewed gene: KIDINS220: Rating: ; Mode of pathogenicity: None; Publications: 27005418, 29667355, 31630374; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Aug 2021	Adult onset hereditary spastic paraplegia v1.38	HACE1	Arina Puzriakova reviewed gene: HACE1: Rating: ; Mode of pathogenicity: None; Publications: 26424145, 26437029, 29423242, 31321300, 33813722; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, OMIM:616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
17 Aug 2021	Adult onset hereditary spastic paraplegia v1.35	FARS2	Arina Puzriakova reviewed gene: FARS2: Rating: ; Mode of pathogenicity: None; Publications: 30250868, 26553276, 29126765; Phenotypes: Spastic paraplegia 77, autosomal recessive, OMIM:617046; Mode of inheritance: None
16 Aug 2021	Adult onset hereditary spastic paraplegia v1.35	ENTPD1	Arina Puzriakova Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia 64, 615683 to Spastic paraplegia 64, autosomal recessive, OMIM:615683
16 Aug 2021	Adult onset hereditary spastic paraplegia v1.33	ENTPD1	Arina Puzriakova changed review comment from: Review of literature revealed 4 unrelated families with SPG64 - all of which presented in childhood. The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.; to: Review of literature revealed 4 unrelated families with SPG64 - all of which presented during childhood. The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.
16 Aug 2021	Adult onset hereditary spastic paraplegia v1.33	ENTPD1	Arina Puzriakova reviewed gene: ENTPD1: Rating: ; Mode of pathogenicity: None; Publications: 24482476, 29691679, 30652007; Phenotypes: Spastic paraplegia 64, autosomal recessive, OMIM:615683; Mode of inheritance: None
16 Aug 2021	Adult onset hereditary spastic paraplegia v1.33	ALS2	Arina Puzriakova Phenotypes for gene: ALS2 were changed from Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Primary lateral sclerosis, juvenile, OMIM:606353; Spastic paralysis, infantile onset ascending, OMIM:607225 to Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Primary lateral sclerosis, juvenile, OMIM:606353
16 Aug 2021	Adult onset hereditary spastic paraplegia v1.32	ALS2	Arina Puzriakova Phenotypes for gene: ALS2 were changed from Spastic paralysis, infantile onset ascending,autosomal recessive, 607225; Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100 to Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Primary lateral sclerosis, juvenile, OMIM:606353; Spastic paralysis, infantile onset ascending, OMIM:607225
16 Aug 2021	Adult onset hereditary spastic paraplegia v1.31	AIMP1	Arina Puzriakova Added comment: Comment on list classification: Review of literature did not reveal any adult onset cases - infantile and childhood onset only. The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.
05 Aug 2021	Adult onset hereditary spastic paraplegia v1.28		Ivone Leong List of related panels changed from R60 to R60; Adult onset hereditary spastic paraplegia Panel version 1.27 has been signed off on 2021-08-05
04 Aug 2021	Adult onset hereditary spastic paraplegia v1.26	KIF1A	Arina Puzriakova Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213, AR; Mental retardation, autosomal dominant 9, 614255, AD to Spastic paraplegia 30, autosomal dominant, OMIM:610357; Spastic paraplegia 30, autosomal recessive, OMIM:610357; NESCAV syndrome, OMIM:614255
02 Aug 2021	Adult onset hereditary spastic paraplegia v1.25	WASHC5	Ivone Leong Phenotypes for gene: WASHC5 were changed from Spastic paraplegia 8, autosomal dominant, 603563 to Spastic paraplegia 8, autosomal dominant, OMIM:603563
28 Jul 2021	Adult onset hereditary spastic paraplegia v1.24	BSCL2	Arina Puzriakova Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, 270685 to Silver spastic paraplegia syndrome, OMIM:270685
28 May 2021	Adult onset hereditary spastic paraplegia v1.22	SLC1A4	Eleanor Williams Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, OMIM:616657
18 May 2021	Adult onset hereditary spastic paraplegia v1.21	AFG3L2	Sarah Leigh Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive; Spinocerebellar ataxia 28, autosomal dominant, 610246 to Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450
11 May 2021	Adult onset hereditary spastic paraplegia v1.19	UCHL1	Arina Puzriakova Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, 615491, AR to Spastic paraplegia 79, autosomal recessive, OMIM:615491
11 May 2021	Adult onset hereditary spastic paraplegia v1.17	UCHL1	Arina Puzriakova reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23359680, 28007905, 29735986, 32656641; Phenotypes: Spastic paraplegia 79, autosomal recessive, OMIM:615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Apr 2021	Adult onset hereditary spastic paraplegia v1.17	CYP2U1	Sarah Leigh changed review comment from: The Q2_21_expert_review tag has been added to this gene as there is a conflict of opinion of the rating of CYP2U1 on the this - Hereditary spastic paraplegia - adult onset, as variants in CYP2U1 are usually associated with Spastic paraplegia 56, autosomal recessive OMIM:615030 in childhood. The green rating may be justified to ensure that edge cases may be identified. GMS opinion is sort on this issue.; to: The Q2_21_expert_review tag has been added to this gene as there is a conflict of opinion of the rating of CYP2U1 on the Hereditary spastic paraplegia - adult onset panel, as variants in CYP2U1 are usually associated with Spastic paraplegia 56, autosomal recessive OMIM:615030 in childhood. The green rating may be justified to ensure that edge cases may be identified. GMS opinion is sort on this issue.
14 Apr 2021	Adult onset hereditary spastic paraplegia v1.17	CYP2U1	Sarah Leigh Phenotypes for gene: CYP2U1 were changed from Spastic paraplegia 56, autosomal recessive, 615030 to Spastic paraplegia 56, autosomal recessive OMIM:615030; hereditary spastic paraplegia 56 MONDO:0014015
05 Jan 2021	Adult onset hereditary spastic paraplegia v1.15	AP4B1	Arina Puzriakova changed review comment from: Review of literature did not reveal any adult onset published cases. Tagged 'for-review' to highlight that this is a childhood onset condition and therefore AP4B1 should be downgraded to Red on this panel at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.1.12' panel.; to: Review of literature did not reveal any adult onset published cases. Tagged 'for-review' to highlight that this is a childhood onset condition and therefore AP4B1 should be downgraded to Red on this panel at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.
05 Jan 2021	Adult onset hereditary spastic paraplegia v1.15	AP4E1	Arina Puzriakova Phenotypes for gene: AP4E1 were changed from Spastic paraplegia 51, autosomal recessive, 613744 to Spastic paraplegia 51, autosomal recessive, OMIM:613744; Hereditary spastic paraplegia 51, MONDO:0013401
05 Jan 2021	Adult onset hereditary spastic paraplegia v1.14	AP4B1	Arina Puzriakova Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive, 614066 to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551
22 Sep 2020	Adult onset hereditary spastic paraplegia v1.7	SLC25A15	Zornitza Stark gene: SLC25A15 was added gene: SLC25A15 was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A15 were set to 16376511; 22465082; 28592010 Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970 Review for gene: SLC25A15 was set to GREEN Added comment: At least four unrelated cases reported with an adult onset spastic paraparesis as a feature of the condition. Sources: Expert list
20 Sep 2020	Adult onset hereditary spastic paraplegia v1.7	GJA1	Zornitza Stark gene: GJA1 was added gene: GJA1 was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list Mode of inheritance for gene: GJA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GJA1 were set to 31023660 Phenotypes for gene: GJA1 were set to Hereditary spastic paraplegia; Oculodentodigital dysplasia, MIM#164200 Review for gene: GJA1 was set to GREEN gene: GJA1 was marked as current diagnostic Added comment: 8 individuals from 5 families with oculodentodigital dysplasia presenting in adulthood with onset of spastic paraplegia and white matter changes on imaging. Sources: Expert list
20 Sep 2020	Adult onset hereditary spastic paraplegia v1.7	GBE1	Zornitza Stark gene: GBE1 was added gene: GBE1 was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 23034915 Phenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form MIM#263570 Review for gene: GBE1 was set to GREEN gene: GBE1 was marked as current diagnostic Added comment: Spastic paraplegia is a reported as a prominent feature of the condition in 45/50 cases diagnosed with adult polyglucosan body disease. Sources: Expert list
20 Sep 2020	Adult onset hereditary spastic paraplegia v1.7	GALC	Zornitza Stark gene: GALC was added gene: GALC was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALC were set to 9272171; 11971051; 22959700; 26396125; 26915362; 28547031; 31185936; 32064984 Phenotypes for gene: GALC were set to Krabbe disease MIM#245200 Review for gene: GALC was set to GREEN gene: GALC was marked as current diagnostic Added comment: Adult onset spastic paraplegia is reported as a feature of the condition in greater than 3 cases. Sources: Expert list
20 Sep 2020	Adult onset hereditary spastic paraplegia v1.7	FBXO7	Zornitza Stark gene: FBXO7 was added gene: FBXO7 was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBXO7 were set to 18513678; 19038853 Phenotypes for gene: FBXO7 were set to Parkinson disease 15, autosomal recessive MIM#260300 Review for gene: FBXO7 was set to GREEN gene: FBXO7 was marked as current diagnostic Added comment: Lower limb spasticity reported in at least three families. Sources: Expert list
20 Sep 2020	Adult onset hereditary spastic paraplegia v1.7	CPT1C	Zornitza Stark reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 23973755; Phenotypes: Spastic paraplegia 73, autosomal dominant, 616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Sep 2020	Adult onset hereditary spastic paraplegia v1.7	AFG3L2	Zornitza Stark reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive 614487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 May 2020	Adult onset hereditary spastic paraplegia v1.6	PCYT2	Rebecca Foulger gene: PCYT2 was added gene: PCYT2 was added to Hereditary spastic paraplegia - adult onset. Sources: Literature Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT2 were set to 31637422 Phenotypes for gene: PCYT2 were set to Spastic paraplegia 82, autosomal recessive, 618770 Added comment: PMID:31637422. In 5 patients from 4 unrelated families with autosomal recessive spastic paraplegia-82 (MIM:618770), Vaz et al. (2019) identified homozygous or compound heterozygous mutations in the PCYT2 gene. The variants segregated with the disorder in all families. Functional studies showed reduced (not absent) PYCT2 activity. Sources: Literature
12 Nov 2019	Adult onset hereditary spastic paraplegia v1.1	RNASEH2B	Zerin Hyder gene: RNASEH2B was added gene: RNASEH2B was added to Hereditary spastic paraplegia - adult onset. Sources: Other Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2B were set to PMID:30223285, PMID:25243380, PMID:29691679 and PMID:28762473 Phenotypes for gene: RNASEH2B were set to hereditary spastic paraparesis Mode of pathogenicity for gene: RNASEH2B was set to Other Review for gene: RNASEH2B was set to GREEN Added comment: Above publications report association of pure, childhood-onset spastic paraparesis in association with missense recessive variants in RNASEH2B. Sources: Other
03 Jul 2019	Adult onset hereditary spastic paraplegia v0.155	ARL6IP1	Louise Daugherty Phenotypes for gene: ARL6IP1 were changed from 24482476; 28471035 to Spastic paraplegia 61, autosomal recessive, 615685
22 May 2019	Adult onset hereditary spastic paraplegia v0.149	FXN	Louise Daugherty gene: FXN was added gene: FXN was added to Hereditary spastic paraplegia - adult onset. Sources: Expert Review Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXN were set to 8596916; 9150176; 9737785; 21830088 Phenotypes for gene: FXN were set to Friedreich ataxia, 229300 Review for gene: FXN was set to GREEN Added comment: New Green gene added and agreed from the GMS Neurology Specialist Test Group Webex on 17th May 2019. Single nucleotide variants can cause the disease (often compound het STR + SNV) Sources: Expert Review
13 May 2019	Adult onset hereditary spastic paraplegia v0.146	SPAST	Louise Daugherty Deleted their comment
13 May 2019	Adult onset hereditary spastic paraplegia v0.143	WDR48	Louise Daugherty Phenotypes for gene: WDR48 were changed from to Spastic paraplegia
13 May 2019	Adult onset hereditary spastic paraplegia v0.130	SPAST	Louise Daugherty Publications for gene: SPAST were set to
13 May 2019	Adult onset hereditary spastic paraplegia v0.94	GJC2	Louise Daugherty Phenotypes for gene: GJC2 were changed from Spastic paraplegia 44, autosomal recessive; Spastic paraplegia 44, autosomal recessive 613206, AR; Lymphatic malformation 3, 613480, AD; Leukodystrophy, hypomyelinating, 2, 608804, AR to Spastic paraplegia 44, autosomal recessive; Spastic paraplegia 44, autosomal recessive 613206, AR; Leukodystrophy, hypomyelinating, 2, 608804, AR
13 May 2019	Adult onset hereditary spastic paraplegia v0.91	GAD1	Louise Daugherty Phenotypes for gene: GAD1 were changed from Cerebralpalsy,spasticquadriplegic,1, 603513 to Cerebralpalsy, spasticquadriplegic,1, 603513
13 May 2019	Adult onset hereditary spastic paraplegia v0.86	ENTPD1	Louise Daugherty Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia 64,615683 to Spasticparaplegia 64, 615683
13 May 2019	Adult onset hereditary spastic paraplegia v0.54	SPAST	Louise Daugherty Source Yorkshire and North East GLH was added to SPAST.
10 May 2019	Adult onset hereditary spastic paraplegia v0.53	SPAST	Nick Beauchamp reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
09 May 2019	Adult onset hereditary spastic paraplegia v0.53	SPAST	Louise Daugherty commented on gene: SPAST: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
02 May 2019	Adult onset hereditary spastic paraplegia v0.51	UBAP1	Louise Daugherty gene: UBAP1 was added gene: UBAP1 was added to Hereditary spastic paraplegia - adult onset. Sources: Literature Mode of inheritance for gene: UBAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBAP1 were set to 30929741 Phenotypes for gene: UBAP1 were set to Hereditary spastic paraplegia Review for gene: UBAP1 was set to GREEN Added comment: From PMID:30929741: reported the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1. They identified pathological truncating variants in UBAP1 in affected persons from Iran, USA, Germany, Canada, Spain, and Bulgarian Roma. The genetic support ranges from linkage in the largest family (LOD = 8.3) to three confirmed de novo mutations. They also showed that mRNA in the fibroblasts of affected individuals escapes nonsense-mediated decay and thus leads to the expression of truncated proteins; in addition, concentrations of the full-length protein are reduced in comparison to those in controls. Sources: Literature
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.48	ENTPD1	Louise Daugherty Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia64,615683 to Spasticparaplegia 64,615683
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	ZFYVE27	Louise Daugherty Added phenotypes Spastic paraplegia 33, autosomal dominant for gene: ZFYVE27 Publications for gene ZFYVE27 were changed from to Mannan AU (2006)
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	VPS37A	Louise Daugherty Added phenotypes Spastic paraplegia 53, autosomal recessive for gene: VPS37A Publications for gene VPS37A were changed from to Zivony-Elboum et al. (2012)
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	VAMP1	Louise Daugherty Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1 Publications for gene VAMP1 were changed from to 22958904
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	TECPR2	Louise Daugherty Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2 Publications for gene TECPR2 were changed from to 23176824; 26542466
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	SLC33A1	Louise Daugherty Added phenotypes Spastic paraplegia 42, autosomal dominant for gene: SLC33A1 Publications for gene SLC33A1 were changed from to Lin et al. (2008)
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	REEP2	Louise Daugherty Added phenotypes ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: REEP2 Publications for gene REEP2 were changed from to 24388663
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	RAB3GAP2	Louise Daugherty Added phenotypes spastic paraplegia; Warburg micro syndrome 2, 614225 for gene: RAB3GAP2 Publications for gene RAB3GAP2 were changed from to 24482476
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	PSEN1	Louise Daugherty Added phenotypes Alzheimer disease, type 3, with spastic paraparesis and apraxia; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques for gene: PSEN1
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	NT5C2	Louise Daugherty Added phenotypes Spasticparaplegia45, autosomal recessive, 613162 for gene: NT5C2 Publications for gene NT5C2 were changed from to 28327087; 28884889; 24482476; 29123918
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	MTPAP	Louise Daugherty Added phenotypes Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive for gene: MTPAP
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	MARS2	Louise Daugherty Added phenotypes Spastic ataxia 3, autosomal recessive for gene: MARS2 Publications for gene MARS2 were changed from to Bayat (2012), 22448145
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	MAG	Louise Daugherty Added phenotypes Spastic paraplegia 75, autosomal recessive, 616680 for gene: MAG Publications for gene MAG were changed from to 26179919; 24482476
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	LYST	Louise Daugherty Added phenotypes spastic paraplegia; Chediak-Higashi syndrome, 214500 for gene: LYST Publications for gene LYST were changed from to 24521565; 26307451; 25519961; 25519960
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	KLC4	Louise Daugherty Added phenotypes spastic paraplegia; progressive complicated spastic paraplegia for gene: KLC4 Publications for gene KLC4 were changed from to 26423925
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	KIF1C	Louise Daugherty Added phenotypes Spastic ataxia 2, autosomal recessive for gene: KIF1C Publications for gene KIF1C were changed from to 24482476; 24319291; 17273843
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	KDM5C	Louise Daugherty Added phenotypes Intellectual disability; developmental delay; epilepsy; progressive spasticity; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; hypothyroidism for gene: KDM5C Publications for gene KDM5C were changed from to 10982473; 26919706; 15586325
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	IBA57	Louise Daugherty Added phenotypes ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57 Publications for gene IBA57 were changed from to 30258207; 25609768
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	GJC2	Louise Daugherty Added phenotypes Spastic paraplegia 44, autosomal recessive for gene: GJC2 Publications for gene GJC2 were changed from to Orthmann-Murphy et al. (2009)
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	GCH1	Louise Daugherty Added phenotypes Dystonia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; progressive spastic paraplegia; Spastic paraplegia for gene: GCH1 Publications for gene GCH1 were changed from to 24509643; 21935284
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	GAD1	Louise Daugherty Added phenotypes Cerebralpalsy,spasticquadriplegic,1, 603513 for gene: GAD1
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	ERLIN1	Louise Daugherty Added phenotypes Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 for gene: ERLIN1 Publications for gene ERLIN1 were changed from to 24482476
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	ENTPD1	Louise Daugherty Added phenotypes Spasticparaplegia64,615683 for gene: ENTPD1 Publications for gene ENTPD1 were changed from to Novarino et al. (2014)
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	DSTYK	Louise Daugherty Added phenotypes Spastic paraplegia 23, 270750 for gene: DSTYK Publications for gene DSTYK were changed from to 28157540
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	DARS	Louise Daugherty Added phenotypes leg spasticity; Brain stem and spinal cord Hypomyelination; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS Publications for gene DARS were changed from to 23643384; 25527264
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	CCT5	Louise Daugherty Added phenotypes Sensory Neuropathy with Spastic Paraplegia; Neuropathy, hereditary sensory, with spastic paraplegia for gene: CCT5
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	ATP13A2	Louise Daugherty Added phenotypes Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia for gene: ATP13A2 Publications for gene ATP13A2 were changed from to 28137957; 27217339
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	AP5Z1	Louise Daugherty Added phenotypes Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive for gene: AP5Z1 Publications for gene AP5Z1 were changed from to 27606357
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	AMPD2	Louise Daugherty Added phenotypes Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic) for gene: AMPD2 Publications for gene AMPD2 were changed from to Novarino et al. (2014)
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	ZFYVE27	Chris Buxton reviewed gene: ZFYVE27: Rating: RED; Mode of pathogenicity: ; Publications: Mannan AU (2006); Phenotypes: Spastic paraplegia 33, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	VPS37A	Chris Buxton reviewed gene: VPS37A: Rating: RED; Mode of pathogenicity: ; Publications: Zivony-Elboum et al. (2012); Phenotypes: Spastic paraplegia 53, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	VAMP1	Chris Buxton reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: 22958904; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	TECPR2	Chris Buxton reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23176824, 26542466; Phenotypes: Spastic paraplegia 49, autosomal recessive, 615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	SLC33A1	Chris Buxton reviewed gene: SLC33A1: Rating: RED; Mode of pathogenicity: ; Publications: Lin et al. (2008); Phenotypes: Spastic paraplegia 42, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	REEP2	Chris Buxton reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24388663; Phenotypes: ?Spastic paraplegia 72, autosomal recessive, 615625, ?Spastic paraplegia 72, autosomal dominant,615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	RAB3GAP2	Chris Buxton reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: ; Publications: 24482476; Phenotypes: spastic paraplegia, Warburg micro syndrome 2, 614225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	PSEN1	Chris Buxton reviewed gene: PSEN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Alzheimer disease, type 3, with spastic paraparesis and apraxia, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; Mode of inheritance:
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	NT5C2	Chris Buxton reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24482476, 28884889, 28327087, 29123918; Phenotypes: Spasticparaplegia45, autosomal recessive, 613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	MTPAP	Chris Buxton reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, spastic, 4, Spastic ataxia 4, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	MARS2	Chris Buxton reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: Bayat (2012), 22448145; Phenotypes: Spastic ataxia 3, autosomal recessive ; Mode of inheritance:
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	MAG	Chris Buxton reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: ; Publications: 24482476, 26179919; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	LYST	Chris Buxton reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: 24521565, 26307451, 25519960, 25519961; Phenotypes: spastic paraplegia, Chediak-Higashi syndrome, 214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	KLC4	Chris Buxton reviewed gene: KLC4: Rating: RED; Mode of pathogenicity: ; Publications: 26423925; Phenotypes: spastic paraplegia, progressive complicated spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	KIF1C	Chris Buxton reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 24482476, 24319291, 24482476, 17273843; Phenotypes: Spastic ataxia 2, autosomal recessive ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	KDM5C	Chris Buxton reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: 10982473, 15586325, 26919706; 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)
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	IBA57	Chris Buxton reviewed gene: IBA57: Rating: RED; Mode of pathogenicity: ; Publications: 25609768, 30258207; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	GJC2	Chris Buxton reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: Orthmann-Murphy et al. (2009); Phenotypes: Spastic paraplegia 44, autosomal recessive ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	GCH1	Chris Buxton reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24509643, 21935284; Phenotypes: Dystonia, Spastic paraplegia, progressive spastic paraplegia, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	GAD1	Chris Buxton reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebralpalsy,spasticquadriplegic,1, 603513; Mode of inheritance:
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	ERLIN1	Chris Buxton reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24482476; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	ENTPD1	Chris Buxton reviewed gene: ENTPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: Spasticparaplegia64,615683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	DSTYK	Chris Buxton reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: 28157540; Phenotypes: Spastic paraplegia 23, 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	DARS	Chris Buxton reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: 23643384, 25527264; 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
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	CCT5	Chris Buxton 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
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	ATP13A2	Chris Buxton reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28137957, 27217339; Phenotypes: Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	AP5Z1	Chris Buxton reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27606357; Phenotypes: Spastic Paraplegia, Recessive , Spastic paraplegia 48, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	AMPD2	Chris Buxton reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: Pontocerebellar hypolplasia (biallelic), Hereditary Spastic Paraplegia?; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.28	ZFYVE27	Louise Daugherty gene: ZFYVE27 was added gene: ZFYVE27 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: ZFYVE27 was set to
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.28	ZEB2	Louise Daugherty gene: ZEB2 was added gene: ZEB2 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: ZEB2 was set to
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.28	WDR48	Louise Daugherty gene: WDR48 was added gene: WDR48 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: WDR48 was set to
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.28	USP8	Louise Daugherty gene: USP8 was added gene: USP8 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: USP8 was set to
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.28	RAB3GAP2	Louise Daugherty gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: RAB3GAP2 was set to
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.28	PGAP1	Louise Daugherty gene: PGAP1 was added gene: PGAP1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: PGAP1 was set to
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.28	PCDH12	Louise Daugherty gene: PCDH12 was added gene: PCDH12 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: PCDH12 was set to
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.28	MARS	Louise Daugherty gene: MARS was added gene: MARS was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: MARS was set to
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.28	KLC4	Louise Daugherty gene: KLC4 was added gene: KLC4 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: KLC4 was set to
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.28	GAD1	Louise Daugherty gene: GAD1 was added gene: GAD1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: GAD1 was set to
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.28	ENTPD1	Louise Daugherty gene: ENTPD1 was added gene: ENTPD1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: ENTPD1 was set to
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.28	CCT5	Louise Daugherty gene: CCT5 was added gene: CCT5 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: CCT5 was set to
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.28	ARSI	Louise Daugherty gene: ARSI was added gene: ARSI was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: ARSI was set to
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.28	ARL6IP1	Louise Daugherty gene: ARL6IP1 was added gene: ARL6IP1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: ARL6IP1 was set to
26 Apr 2019	Adult onset hereditary spastic paraplegia v0.21	TBP_CAG	Louise Daugherty STR: TBP_CAG was added STR: TBP_CAG was added to Hereditary spastic paraplegia - 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 Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136 Review for STR: TBP_CAG was set to GREEN Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group Sources: Expert list
26 Apr 2019	Adult onset hereditary spastic paraplegia v0.20	PPP2R2B_CAG	Louise Daugherty STR: PPP2R2B_CAG was added STR: PPP2R2B_CAG was added to Hereditary spastic paraplegia - 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 Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326 Review for STR: PPP2R2B_CAG was set to GREEN Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group Sources: Expert list
26 Apr 2019	Adult onset hereditary spastic paraplegia v0.19	HTT_CAG	Louise Daugherty STR: HTT_CAG was added STR: HTT_CAG was added to Hereditary spastic paraplegia - 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: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group Sources: Expert list
26 Apr 2019	Adult onset hereditary spastic paraplegia v0.18	FXN_GAA	Louise Daugherty STR: FXN_GAA was added STR: FXN_GAA was added to Hereditary spastic paraplegia - 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: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group Sources: Expert list
26 Apr 2019	Adult onset hereditary spastic paraplegia v0.17	CACNA1A_CAG	Louise Daugherty STR: CACNA1A_CAG was added STR: CACNA1A_CAG was added to Hereditary spastic paraplegia - 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: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group Sources: Expert list
26 Apr 2019	Adult onset hereditary spastic paraplegia v0.16	ATXN7_CAG	Louise Daugherty STR: ATXN7_CAG was added STR: ATXN7_CAG was added to Hereditary spastic paraplegia - 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: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group Sources: Expert list
26 Apr 2019	Adult onset hereditary spastic paraplegia v0.15	ATXN3_CAG	Louise Daugherty STR: ATXN3_CAG was added STR: ATXN3_CAG was added to Hereditary spastic paraplegia - 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: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group Sources: Expert list
26 Apr 2019	Adult onset hereditary spastic paraplegia v0.14	ATXN2_CAG	Louise Daugherty STR: ATXN2_CAG was added STR: ATXN2_CAG was added to Hereditary spastic paraplegia - 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: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group Sources: Expert list
26 Apr 2019	Adult onset hereditary spastic paraplegia v0.12	ATXN10_ATTCT	Louise Daugherty STR: ATXN10_ATTCT was added STR: ATXN10_ATTCT was added to Hereditary spastic paraplegia - 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: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group Sources: Expert list
26 Apr 2019	Adult onset hereditary spastic paraplegia v0.10	ATXN1_CAG	Louise Daugherty STR: ATXN1_CAG was added STR: ATXN1_CAG was added to Hereditary spastic paraplegia - 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: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group Sources: Expert list
26 Apr 2019	Adult onset hereditary spastic paraplegia v0.7	ATN1_CAG	Louise Daugherty STR: ATN1_CAG was added STR: ATN1_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list STR tags were added to STR: ATN1_CAG. Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090 Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370 Review for STR: ATN1_CAG was set to GREEN Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group. Sources: Expert list
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.6	SPAST	Louise Daugherty reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	ZFYVE26	James Polke reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive, 270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	WDR45B	James Polke reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	WASHC5	James Polke reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant, 603563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	VPS37A	James Polke reviewed gene: VPS37A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 53, autosomal recessive, 614898, AR ; Mode of inheritance:
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	VAMP1	James Polke reviewed gene: VAMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600 ; Mode of inheritance:
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	UCHL1	James Polke reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 79, autosomal recessive, 615491, AR; Mode of inheritance:
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	TFG	James Polke reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 57, autosomal recessive 615658,AR, Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD ; Mode of inheritance:
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	TECPR2	James Polke reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 49, autosomal recessive,615031, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	SPG7	James Polke reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 7, autosomal recessive, 607259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	SPG21	James Polke reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, autosomal recessive, Mast syndrome, 248900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	SPG11	James Polke reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 11, autosomal recessive, 604360, Amyotrophic lateral sclerosis 5, juvenile, 602099, AR, Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	SPAST	James Polke reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 4, autosomal dominant, 182601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	SPART	James Polke reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 20, autosomal recessive, Troyer syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	SLC33A1	James Polke reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD ; Mode of inheritance:
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	SLC1A4	James Polke reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	SACS	James Polke reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, 270550 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	RTN2	James Polke reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 12, autosomal dominant, 604805 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	REEP2	James Polke reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 72, autosomal recessive, 615625, ?Spastic paraplegia 72, autosomal dominant, 615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	REEP1	James Polke reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 31, autosomal dominant, 610250 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	PSEN1	James Polke reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	PNPLA6	James Polke reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 39, autosomal recessive, 612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	PLP1	James Polke reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 2, X-linked recessive, 312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	NT5C2	James Polke reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 45, autosomal recessive, 613162, AR ; Mode of inheritance:
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	NKX6-2	James Polke reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	NIPA1	James Polke reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	MTPAP	James Polke reviewed gene: MTPAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic ataxia 4, autosomal recessive, 613672 ; Mode of inheritance:
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	MARS2	James Polke reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 3, autosomal recessive, 611390; Mode of inheritance:
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	MAG	James Polke reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	LYST	James Polke reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, Chediak-Higashi syndrome, 214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	L1CAM	James Polke reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-linked hydrocephalus, 307000, MASA syndrome, 303350, Hereditary spastic paraplegia, 308840; Mode of inheritance: X-LINKED recessive: hemizygous mutation in males, biallelic mutations in females
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	KIF5A	James Polke reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	KIF1C	James Polke reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 2, autosomal recessive, 611302; Mode of inheritance:
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	KIF1A	James Polke reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 30, autosomal recessive, 610357, Mental retardation, autosomal dominant 9, 614255, AD, Neuropathy, hereditary sensory, type IIC, 614213, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	KIDINS220	James Polke reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	KDM5C	James Polke reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534, Intellectual disability, developmental delay, progressive spasticity, epilepsy, hypothyroidism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	KCNA2	James Polke reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 5129488; Phenotypes: Hereditary spastic paraplegia and ataxia; Mode of inheritance:
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	IBA57	James Polke reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	HSPD1	James Polke reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280, Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	HACE1	James Polke reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, psychomotor retardation, seizure, Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	GJC2	James Polke reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 2, 608804, AR, Spastic paraplegia 44, autosomal recessive 613206, AR, Lymphatic malformation 3, 613480, AD; Mode of inheritance:
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	GCH1	James Polke reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Spastic paraplegia, progressive spastic paraplegia, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	GBA2	James Polke reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	FARS2	James Polke reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 77, autosomal recessive, 617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	FA2H	James Polke reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 35, autosomal recessive, 611026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	ERLIN2	James Polke reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 18, autosomal recessive, 611225, Spastic paraplegia, autosomal dominant, hereditary spastic paraplegia, neurodegeneration.; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	ERLIN1	James Polke reviewed gene: ERLIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	DSTYK	James Polke reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital anomalies of kidney and urinary tract 1, 610805, AD, Spastic paraplegia 23, 270750, AR; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	DDHD2	James Polke reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 54, autosomal recessive, 615033 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	DDHD1	James Polke reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 28, autosomal recessive, 609340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	DARS	James Polke reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Brain stem and spinal cord Hypomyelination, leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	CYP7B1	James Polke reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 5A, autosomal recessive, 270800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	CYP2U1	James Polke reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 56, autosomal recessive, 615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	CYP27A1	James Polke reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	CPT1C	James Polke reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 73, autosomal dominant, 616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	CDK16	James Polke reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual disability and spastic paraplegia, x-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	CAPN1	James Polke reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 76 autosomal recessive, 616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	C19orf12	James Polke reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 43, autosomal recessive, 615043, Neurodegeneration with brain iron accumulation 4, 614298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	C12orf65	James Polke reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 55, autosomal recessive, 615035, optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy, Combined oxidative phosphorylation deficiency 7, 613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	BSCL2	James Polke reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Silver spastic paraplegia syndrome, 270685; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	B4GALNT1	James Polke reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 26, autosomal recessive, 609195 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	ATP13A2	James Polke reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia, Kufor-Rakeb syndrome, 606693 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	ATL1	James Polke reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, 182600 autosomal dominant, Spastic Paraplegia, Dominant, Neuropathy, hereditary sensory, type ID, 613708 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	ARG1	James Polke reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Argininaemia, 207800, Progressive spastic tetraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	AP5Z1	James Polke reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 48, autosomal recessive, 613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	AP4S1	James Polke reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 52, autosomal recessive, 614067, developmental delay, seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	AP4M1	James Polke reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive, 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	AP4E1	James Polke reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive, 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	AP4B1	James Polke reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive, 614066 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	AMPD2	James Polke reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 63, 615686, AR, Pontocerebellar hypoplasia, type 9, 615809, AR ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	ALS2	James Polke reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paralysis, infantile onset ascending,autosomal recessive, 607225, Primary lateral sclerosis, juvenile, autosomal recessive, 606353, Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	ALDH18A1	James Polke reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 9A, autosomal dominant 601162, Spastic paraplegia 9B, autosomal recessive 616586, Cutis laxa, autosomal dominant 3 616603, Cutis laxa, autosomal recessive, type IIIA 219150, ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, SPG9; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	AFG3L2	James Polke reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, spastic, 5, autosomal recessive, Spastic ataxia 5, autosomal recessive, Spinocerebellar ataxia 28, autosomal dominant, 610246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	ABCD1	James Polke reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, adrenal failure, VLCFA accumulation, spastic paraparesis, Adrenoleukodystrophy, 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	ZFYVE26	Louise Daugherty Source Expert Review Green was added to ZFYVE26. Mode of inheritance for gene ZFYVE26 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	WDR45B	Louise Daugherty Source Expert Review Green was added to WDR45B. Mode of inheritance for gene WDR45B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	WASHC5	Louise Daugherty Source Expert Review Green was added to WASHC5. Mode of inheritance for gene WASHC5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563 for gene: WASHC5 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	VPS37A	Louise Daugherty Source Expert Review Green was added to VPS37A. Added phenotypes Spastic paraplegia 53, autosomal recessive, 614898, AR for gene: VPS37A Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	VAMP1	Louise Daugherty Source Expert Review Green was added to VAMP1. Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	UCHL1	Louise Daugherty Source Expert Review Green was added to UCHL1. Added phenotypes Spastic paraplegia 79, autosomal recessive, 615491, AR for gene: UCHL1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	TFG	Louise Daugherty Source Expert Review Green was added to TFG. Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD; ?Spastic paraplegia 57, autosomal recessive 615658,AR for gene: TFG Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	TECPR2	Louise Daugherty Source Expert Review Green was added to TECPR2. Mode of inheritance for gene TECPR2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 49, autosomal recessive,615031, AR for gene: TECPR2 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	SPG7	Louise Daugherty Source Expert Review Green was added to SPG7. Mode of inheritance for gene SPG7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	SPG21	Louise Daugherty Source Expert Review Green was added to SPG21. Mode of inheritance for gene SPG21 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mast syndrome, 248900; Spastic Paraplegia, autosomal recessive for gene: SPG21 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	SPG11	Louise Daugherty Source Expert Review Green was added to SPG11. Mode of inheritance for gene SPG11 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR; Amyotrophic lateral sclerosis 5, juvenile, 602099, AR for gene: SPG11 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	SPAST	Louise Daugherty Source Expert Review Green was added to SPAST. Mode of inheritance for gene SPAST was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Spastic paraplegia 4, autosomal dominant, 182601 for gene: SPAST Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	SPART	Louise Daugherty Source Expert Review Green was added to SPART. Mode of inheritance for gene SPART was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Troyer syndrome; Spastic paraplegia 20, autosomal recessive for gene: SPART Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	SLC33A1	Louise Daugherty Source Expert Review Green was added to SLC33A1. Added phenotypes Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD for gene: SLC33A1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	SLC1A4	Louise Daugherty Source Expert Review Green was added to SLC1A4. Mode of inheritance for gene SLC1A4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	SACS	Louise Daugherty Source Expert Review Green was added to SACS. Mode of inheritance for gene SACS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 for gene: SACS Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	RTN2	Louise Daugherty Source Expert Review Green was added to RTN2. Mode of inheritance for gene RTN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Spastic paraplegia 12, autosomal dominant, 604805 for gene: RTN2 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	REEP2	Louise Daugherty Source Expert Review Green was added to REEP2. Mode of inheritance for gene REEP2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes ?Spastic paraplegia 72, autosomal dominant, 615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: REEP2 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	REEP1	Louise Daugherty Source Expert Review Green was added to REEP1. Mode of inheritance for gene REEP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	PSEN1	Louise Daugherty Source Expert Review Green was added to PSEN1. Mode of inheritance for gene PSEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques for gene: PSEN1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	PNPLA6	Louise Daugherty Source Expert Review Green was added to PNPLA6. Mode of inheritance for gene PNPLA6 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 39, autosomal recessive, 612020 for gene: PNPLA6 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	PLP1	Louise Daugherty Source Expert Review Green was added to PLP1. Mode of inheritance for gene PLP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Spastic paraplegia 2, X-linked recessive, 312920 for gene: PLP1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	NT5C2	Louise Daugherty Source Expert Review Green was added to NT5C2. Added phenotypes Spastic paraplegia 45, autosomal recessive, 613162, AR for gene: NT5C2 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	NKX6-2	Louise Daugherty Source Expert Review Green was added to NKX6-2. Mode of inheritance for gene NKX6-2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	NIPA1	Louise Daugherty Source Expert Review Green was added to NIPA1. Mode of inheritance for gene NIPA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363 for gene: NIPA1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	MTPAP	Louise Daugherty Source Expert Review Green was added to MTPAP. Added phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 for gene: MTPAP Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	MARS2	Louise Daugherty Source Expert Review Green was added to MARS2. Added phenotypes Spastic ataxia 3, autosomal recessive, 611390 for gene: MARS2 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	MAG	Louise Daugherty Source Expert Review Green was added to MAG. Mode of inheritance for gene MAG was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 75, autosomal recessive, 616680 for gene: MAG Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	LYST	Louise Daugherty Source Expert Review Green was added to LYST. Mode of inheritance for gene LYST was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Chediak-Higashi syndrome, 214500; Spastic paraplegia for gene: LYST Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	L1CAM	Louise Daugherty Source Expert Review Green was added to L1CAM. Mode of inheritance for gene L1CAM was changed from to X-LINKED recessive: hemizygous mutation in males, biallelic mutations in females Added phenotypes Hereditary spastic paraplegia, 308840; MASA syndrome, 303350; X-linked hydrocephalus, 307000 for gene: L1CAM Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	KIF5A	Louise Daugherty Source Expert Review Green was added to KIF5A. Mode of inheritance for gene KIF5A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187 for gene: KIF5A Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	KIF1C	Louise Daugherty Source Expert Review Green was added to KIF1C. Added phenotypes Spastic ataxia 2, autosomal recessive, 611302 for gene: KIF1C Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	KIF1A	Louise Daugherty Source Expert Review Green was added to KIF1A. Mode of inheritance for gene KIF1A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213, AR; Mental retardation, autosomal dominant 9, 614255, AD for gene: KIF1A Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	KIDINS220	Louise Daugherty Source Expert Review Green was added to KIDINS220. Mode of inheritance for gene KIDINS220 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296 for gene: KIDINS220 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	KDM5C	Louise Daugherty Source Expert Review Green was added to KDM5C. Mode of inheritance for gene KDM5C was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Intellectual disability; developmental delay; epilepsy; progressive spasticity; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; hypothyroidism for gene: KDM5C Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	KCNA2	Louise Daugherty Source Expert Review Green was added to KCNA2. Added phenotypes Hereditary spastic paraplegia and ataxia for gene: KCNA2 Publications for gene KCNA2 were changed from to 5129488 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	IBA57	Louise Daugherty Source Expert Review Green was added to IBA57. Mode of inheritance for gene IBA57 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	HSPD1	Louise Daugherty Source Expert Review Amber was added to HSPD1. Mode of inheritance for gene HSPD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280 for gene: HSPD1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	HACE1	Louise Daugherty Source Expert Review Green was added to HACE1. Mode of inheritance for gene HACE1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756; psychomotor retardation; Spastic paraplegia for gene: HACE1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	GJC2	Louise Daugherty Source Expert Review Green was added to GJC2. Added phenotypes Spastic paraplegia 44, autosomal recessive 613206, AR; Lymphatic malformation 3, 613480, AD; Leukodystrophy, hypomyelinating, 2, 608804, AR for gene: GJC2 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	GCH1	Louise Daugherty Source Expert Review Green was added to GCH1. Mode of inheritance for gene GCH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Dystonia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; progressive spastic paraplegia; Spastic paraplegia for gene: GCH1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	GBA2	Louise Daugherty Source Expert Review Green was added to GBA2. Mode of inheritance for gene GBA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	FARS2	Louise Daugherty Source Expert Review Green was added to FARS2. Mode of inheritance for gene FARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046 for gene: FARS2 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	FA2H	Louise Daugherty Source Expert Review Green was added to FA2H. Mode of inheritance for gene FA2H was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 35, autosomal recessive, 611026 for gene: FA2H Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	ERLIN2	Louise Daugherty Source Expert Review Green was added to ERLIN2. Mode of inheritance for gene ERLIN2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia, autosomal dominant; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225; hereditary spastic paraplegia for gene: ERLIN2 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	ERLIN1	Louise Daugherty Source Expert Review Green was added to ERLIN1. Mode of inheritance for gene ERLIN1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 for gene: ERLIN1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	DSTYK	Louise Daugherty Source Expert Review Green was added to DSTYK. Mode of inheritance for gene DSTYK was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Spastic paraplegia 23, 270750, AR; Congenital anomalies of kidney and urinary tract 1, 610805, AD for gene: DSTYK Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	DDHD2	Louise Daugherty Source Expert Review Green was added to DDHD2. Mode of inheritance for gene DDHD2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 54, autosomal recessive, 615033 for gene: DDHD2 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	DDHD1	Louise Daugherty Source Expert Review Green was added to DDHD1. Mode of inheritance for gene DDHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 28, autosomal recessive, 609340 for gene: DDHD1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	DARS	Louise Daugherty Source Expert Review Green was added to DARS. Mode of inheritance for gene DARS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes leg spasticity; Brain stem and spinal cord Hypomyelination; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	CYP7B1	Louise Daugherty Source Expert Review Green was added to CYP7B1. Mode of inheritance for gene CYP7B1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800 for gene: CYP7B1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	CYP2U1	Louise Daugherty Source Expert Review Green was added to CYP2U1. Mode of inheritance for gene CYP2U1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	CYP27A1	Louise Daugherty Source Expert Review Green was added to CYP27A1. Mode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness for gene: CYP27A1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	CPT1C	Louise Daugherty Source Expert Review Green was added to CPT1C. Mode of inheritance for gene CPT1C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes ?Spastic paraplegia 73, autosomal dominant, 616282 for gene: CPT1C Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	CDK16	Louise Daugherty Source Expert Review Red was added to CDK16. Mode of inheritance for gene CDK16 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Intellectual disability and spastic paraplegia, x-linked for gene: CDK16
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	CAPN1	Louise Daugherty Source Expert Review Green was added to CAPN1. Mode of inheritance for gene CAPN1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 76 autosomal recessive, 616907 for gene: CAPN1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	C19orf12	Louise Daugherty Source Expert Review Green was added to C19orf12. Mode of inheritance for gene C19orf12 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	C12orf65	Louise Daugherty Source Expert Review Green was added to C12orf65. Mode of inheritance for gene C12orf65 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy; Combined oxidative phosphorylation deficiency 7, 613559; Spastic paraplegia 55, autosomal recessive, 615035 for gene: C12orf65 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	BSCL2	Louise Daugherty Source Expert Review Green was added to BSCL2. Mode of inheritance for gene BSCL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Silver spastic paraplegia syndrome, 270685 for gene: BSCL2 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	B4GALNT1	Louise Daugherty Source Expert Review Green was added to B4GALNT1. Mode of inheritance for gene B4GALNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 26, autosomal recessive, 609195 for gene: B4GALNT1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	ATP13A2	Louise Daugherty Source Expert Review Green was added to ATP13A2. Mode of inheritance for gene ATP13A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Kufor-Rakeb syndrome, 606693 AR; Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia for gene: ATP13A2 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	ATL1	Louise Daugherty Source Expert Review Green was added to ATL1. Mode of inheritance for gene ATL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Spastic paraplegia 3A, 182600 autosomal dominant; Spastic Paraplegia, Dominant; Neuropathy, hereditary sensory, type ID, 613708 for gene: ATL1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	ARG1	Louise Daugherty Source Expert Review Green was added to ARG1. Mode of inheritance for gene ARG1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Progressive spastic tetraplegia; Argininaemia, 207800 for gene: ARG1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	AP5Z1	Louise Daugherty Source Expert Review Green was added to AP5Z1. Mode of inheritance for gene AP5Z1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 48, autosomal recessive, 613647 for gene: AP5Z1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	AP4S1	Louise Daugherty Source Expert Review Green was added to AP4S1. Mode of inheritance for gene AP4S1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes seizures; developmental delay; Spastic paraplegia 52, autosomal recessive, 614067 for gene: AP4S1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	AP4M1	Louise Daugherty Source Expert Review Green was added to AP4M1. Mode of inheritance for gene AP4M1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 50, autosomal recessive, 612936 for gene: AP4M1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	AP4E1	Louise Daugherty Source Expert Review Green was added to AP4E1. Mode of inheritance for gene AP4E1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 51, autosomal recessive, 613744 for gene: AP4E1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	AP4B1	Louise Daugherty Source Expert Review Green was added to AP4B1. Mode of inheritance for gene AP4B1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 47, autosomal recessive, 614066 for gene: AP4B1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	AMPD2	Louise Daugherty Source Expert Review Green was added to AMPD2. Mode of inheritance for gene AMPD2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Spastic paraplegia 63, 615686, AR; Pontocerebellar hypoplasia, type 9, 615809, AR for gene: AMPD2 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	ALS2	Louise Daugherty Source Expert Review Green was added to ALS2. Mode of inheritance for gene ALS2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paralysis, infantile onset ascending,autosomal recessive, 607225; Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100 for gene: ALS2 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	ALDH18A1	Louise Daugherty Source Expert Review Green was added to ALDH18A1. Mode of inheritance for gene ALDH18A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 9B, autosomal recessive 616586; SPG9; ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; Cutis laxa, autosomal dominant 3 616603; Spastic paraplegia 9A, autosomal dominant 601162; Cutis laxa, autosomal recessive, type IIIA 219150 for gene: ALDH18A1 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	AFG3L2	Louise Daugherty Source Expert Review Green was added to AFG3L2. Mode of inheritance for gene AFG3L2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive; Spinocerebellar ataxia 28, autosomal dominant, 610246 for gene: AFG3L2 Rating Changed from Red List (low evidence) to Green List (high evidence)
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	ABCD1	Louise Daugherty Source Expert Review Green was added to ABCD1. Mode of inheritance for gene ABCD1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes spastic paraparesis; Hereditary spastic paraplegia; VLCFA accumulation; adrenal failure; Adrenoleukodystrophy, 300100 for gene: ABCD1 Rating Changed from Red List (low evidence) to Green List (high evidence)
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.3	SPAST	Louise Daugherty Source NHS GMS was added to SPAST.
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	ZFYVE26	Louise Daugherty gene: ZFYVE26 was added gene: ZFYVE26 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ZFYVE26 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	WDR45B	Louise Daugherty gene: WDR45B was added gene: WDR45B was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: WDR45B was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	WASHC5	Louise Daugherty gene: WASHC5 was added gene: WASHC5 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: WASHC5 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	VPS37A	Louise Daugherty gene: VPS37A was added gene: VPS37A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: VPS37A was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	VAMP1	Louise Daugherty gene: VAMP1 was added gene: VAMP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: VAMP1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	UCHL1	Louise Daugherty gene: UCHL1 was added gene: UCHL1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: UCHL1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	TUBB4A	Louise Daugherty gene: TUBB4A was added gene: TUBB4A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: TUBB4A was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	TFG	Louise Daugherty gene: TFG was added gene: TFG was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: TFG was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	TECPR2	Louise Daugherty gene: TECPR2 was added gene: TECPR2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: TECPR2 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	SPG7	Louise Daugherty gene: SPG7 was added gene: SPG7 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SPG7 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	SPG21	Louise Daugherty gene: SPG21 was added gene: SPG21 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SPG21 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	SPG11	Louise Daugherty gene: SPG11 was added gene: SPG11 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SPG11 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	SPAST	Louise Daugherty gene: SPAST was added gene: SPAST was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SPAST was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	SPART	Louise Daugherty gene: SPART was added gene: SPART was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SPART was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	SLC33A1	Louise Daugherty gene: SLC33A1 was added gene: SLC33A1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SLC33A1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	SLC25A46	Louise Daugherty gene: SLC25A46 was added gene: SLC25A46 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SLC25A46 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	SLC1A4	Louise Daugherty gene: SLC1A4 was added gene: SLC1A4 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SLC1A4 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	SLC16A2	Louise Daugherty gene: SLC16A2 was added gene: SLC16A2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SLC16A2 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	SERAC1	Louise Daugherty gene: SERAC1 was added gene: SERAC1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SERAC1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	SACS	Louise Daugherty gene: SACS was added gene: SACS was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SACS was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	RTN2	Louise Daugherty gene: RTN2 was added gene: RTN2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: RTN2 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	REEP2	Louise Daugherty gene: REEP2 was added gene: REEP2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: REEP2 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	REEP1	Louise Daugherty gene: REEP1 was added gene: REEP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: REEP1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	PSEN1	Louise Daugherty gene: PSEN1 was added gene: PSEN1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: PSEN1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	POLR3A	Louise Daugherty gene: POLR3A was added gene: POLR3A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: POLR3A was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	PNPLA6	Louise Daugherty gene: PNPLA6 was added gene: PNPLA6 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: PNPLA6 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	PLP1	Louise Daugherty gene: PLP1 was added gene: PLP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: PLP1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	OPA3	Louise Daugherty gene: OPA3 was added gene: OPA3 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: OPA3 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	NT5C2	Louise Daugherty gene: NT5C2 was added gene: NT5C2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: NT5C2 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	NKX6-2	Louise Daugherty gene: NKX6-2 was added gene: NKX6-2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: NKX6-2 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	NIPA1	Louise Daugherty gene: NIPA1 was added gene: NIPA1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: NIPA1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	MTPAP	Louise Daugherty gene: MTPAP was added gene: MTPAP was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: MTPAP was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	MARS2	Louise Daugherty gene: MARS2 was added gene: MARS2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: MARS2 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	MAG	Louise Daugherty gene: MAG was added gene: MAG was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: MAG was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	LYST	Louise Daugherty gene: LYST was added gene: LYST was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: LYST was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	L1CAM	Louise Daugherty gene: L1CAM was added gene: L1CAM was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: L1CAM was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	KIF5A	Louise Daugherty gene: KIF5A was added gene: KIF5A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: KIF5A was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	KIF1C	Louise Daugherty gene: KIF1C was added gene: KIF1C was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: KIF1C was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	KIF1A	Louise Daugherty gene: KIF1A was added gene: KIF1A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: KIF1A was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	KIDINS220	Louise Daugherty gene: KIDINS220 was added gene: KIDINS220 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: KIDINS220 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	KDM5C	Louise Daugherty gene: KDM5C was added gene: KDM5C was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: KDM5C was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	KCNA2	Louise Daugherty gene: KCNA2 was added gene: KCNA2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: KCNA2 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	IBA57	Louise Daugherty gene: IBA57 was added gene: IBA57 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: IBA57 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	HSPD1	Louise Daugherty gene: HSPD1 was added gene: HSPD1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: HSPD1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	HACE1	Louise Daugherty gene: HACE1 was added gene: HACE1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: HACE1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	GJC2	Louise Daugherty gene: GJC2 was added gene: GJC2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: GJC2 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	GCH1	Louise Daugherty gene: GCH1 was added gene: GCH1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: GCH1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	GBA2	Louise Daugherty gene: GBA2 was added gene: GBA2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: GBA2 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	FARS2	Louise Daugherty gene: FARS2 was added gene: FARS2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: FARS2 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	FA2H	Louise Daugherty gene: FA2H was added gene: FA2H was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: FA2H was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	ERLIN2	Louise Daugherty gene: ERLIN2 was added gene: ERLIN2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ERLIN2 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	ERLIN1	Louise Daugherty gene: ERLIN1 was added gene: ERLIN1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ERLIN1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	DSTYK	Louise Daugherty gene: DSTYK was added gene: DSTYK was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: DSTYK was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	DDHD2	Louise Daugherty gene: DDHD2 was added gene: DDHD2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: DDHD2 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	DDHD1	Louise Daugherty gene: DDHD1 was added gene: DDHD1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: DDHD1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	DARS	Louise Daugherty gene: DARS was added gene: DARS was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: DARS was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	CYP7B1	Louise Daugherty gene: CYP7B1 was added gene: CYP7B1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: CYP7B1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	CYP2U1	Louise Daugherty gene: CYP2U1 was added gene: CYP2U1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: CYP2U1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	CYP27A1	Louise Daugherty gene: CYP27A1 was added gene: CYP27A1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: CYP27A1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	CPT1C	Louise Daugherty gene: CPT1C was added gene: CPT1C was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: CPT1C was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	CDK16	Louise Daugherty gene: CDK16 was added gene: CDK16 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: CDK16 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	CAPN1	Louise Daugherty gene: CAPN1 was added gene: CAPN1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: CAPN1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	C19orf12	Louise Daugherty gene: C19orf12 was added gene: C19orf12 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: C19orf12 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	C12orf65	Louise Daugherty gene: C12orf65 was added gene: C12orf65 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: C12orf65 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	BSCL2	Louise Daugherty gene: BSCL2 was added gene: BSCL2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: BSCL2 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	B4GALNT1	Louise Daugherty gene: B4GALNT1 was added gene: B4GALNT1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: B4GALNT1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	ATP13A2	Louise Daugherty gene: ATP13A2 was added gene: ATP13A2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ATP13A2 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	ATL1	Louise Daugherty gene: ATL1 was added gene: ATL1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ATL1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	ARG1	Louise Daugherty gene: ARG1 was added gene: ARG1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ARG1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	AP5Z1	Louise Daugherty gene: AP5Z1 was added gene: AP5Z1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AP5Z1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	AP4S1	Louise Daugherty gene: AP4S1 was added gene: AP4S1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AP4S1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	AP4M1	Louise Daugherty gene: AP4M1 was added gene: AP4M1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AP4M1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	AP4E1	Louise Daugherty gene: AP4E1 was added gene: AP4E1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AP4E1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	AP4B1	Louise Daugherty gene: AP4B1 was added gene: AP4B1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AP4B1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	AMPD2	Louise Daugherty gene: AMPD2 was added gene: AMPD2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AMPD2 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	ALS2	Louise Daugherty gene: ALS2 was added gene: ALS2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ALS2 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	ALDH18A1	Louise Daugherty gene: ALDH18A1 was added gene: ALDH18A1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ALDH18A1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	AIMP1	Louise Daugherty gene: AIMP1 was added gene: AIMP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AIMP1 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	AFG3L2	Louise Daugherty gene: AFG3L2 was added gene: AFG3L2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AFG3L2 was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	ADAR	Louise Daugherty gene: ADAR was added gene: ADAR was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ADAR was set to
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	ABCD1	Louise Daugherty gene: ABCD1 was added gene: ABCD1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ABCD1 was set to
16 Nov 2018	Adult onset hereditary spastic paraplegia v0.0		Ellen McDonagh Added Panel Hereditary spastic paraplegia - adult onset Set panel types to: GMS Rare Disease