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Hereditary spastic paraplegia v1.210 RNASEH2B Louise Daugherty Classified gene: RNASEH2B as Green List (high evidence)
Hereditary spastic paraplegia v1.210 RNASEH2B Louise Daugherty Added comment: Comment on list classification: New gene added. The 100,000 Genomes Project has identified one case and recent publications have reported RNASEH2B variants in homozygous status in patients with spastic paraplegia. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.
Hereditary spastic paraplegia v1.210 RNASEH2B Louise Daugherty Gene: rnaseh2b has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.209 RNASEH2B Louise Daugherty Phenotypes for gene: RNASEH2B were changed from spastic paraparesis to Aicardi-Goutieres syndrome 2, 610181; spastic paraparesis
Hereditary spastic paraplegia v1.208 RNASEH2B Louise Daugherty Publications for gene: RNASEH2B were set to PMID:30223285, PMID:25243380, PMID:29691679 and PMID:28762473
Hereditary spastic paraplegia v1.207 RNASEH2B Zerin Hyder gene: RNASEH2B was added
gene: RNASEH2B was added to Hereditary spastic paraplegia. 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 spastic paraparesis
Penetrance for gene: RNASEH2B were set to unknown
Mode of pathogenicity for gene: RNASEH2B was set to Other
Review for gene: RNASEH2B was set to GREEN
Added comment: Abovepublications report association of pure, childhood-onset spastic paraparesis in association with missense recessive variants in RNASEH2B.
Sources: Other
Hereditary spastic paraplegia v1.207 PCYT2 Louise Daugherty Classified gene: PCYT2 as Green List (high evidence)
Hereditary spastic paraplegia v1.207 PCYT2 Louise Daugherty Added comment: Comment on list classification: New gene for HSP. There are more than 3 unrelated cases to support the HSP phenotype caused by homozygous mutation in the gene encoding phosphoethanolamine cytidylyltransferase
Hereditary spastic paraplegia v1.207 PCYT2 Louise Daugherty Gene: pcyt2 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.206 PCYT2 Louise Daugherty gene: PCYT2 was added
gene: PCYT2 was added to Hereditary spastic paraplegia. 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 Complex hereditary spastic paraplegia
Review for gene: PCYT2 was set to GREEN
Added comment: New publication (2019) : Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia: Vaz, Frédéric M et.al., PMID: 31637422. Identified five individuals with biallelic PCYT2 variants clinically characterized by global developmental delay with regression, spastic para- or tetraparesis, epilepsy and progressive cerebral and cerebellar atrophy.

CTP:phosphoethanolamine cytidylyltransferase (ET) is encoded by the PCYT2 gene. Using patient fibroblasts they demonstrated that the variants were hypomorphic, resulting in altered but residual ET protein levels and concomitant reduced enzyme activity without affecting mRNA levels. The significantly better survival of hypomorphic CRISPR- Cas9 generated pcyt2 zebrafish knockout compared to a complete knockout, in conjunction with previously described data on the Pcyt2 mouse model, indicates that complete loss of ET function may be incompatible with life in vertebrates. Lipidomic analysis revealed profound lipid abnormalities in patient fibroblasts impacting both neutral etherlipid and etherphospholipid metabolism. Plasma lipidomics studies also identified changes in etherlipids that have the potential to be used as biomarkers for ET deficiency.

The data establishes that PCYT2 as a disease gene for a new complex hereditary spastic paraplegia and confirmed that etherlipid homeostasis is important for the development and function of the brain.
Sources: Literature
Hereditary spastic paraplegia v1.205 MARS Louise Daugherty Tag new-gene-name tag was added to gene: MARS.
Hereditary spastic paraplegia v1.205 MARS Louise Daugherty commented on gene: MARS
Hereditary spastic paraplegia v1.205 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Hereditary spastic paraplegia v1.205 DARS Louise Daugherty commented on gene: DARS: Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1
Hereditary spastic paraplegia v1.203 VPS37A Louise Daugherty commented on gene: VPS37A
Hereditary spastic paraplegia v1.203 VAMP1 Louise Daugherty reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 TFG Louise Daugherty reviewed gene: TFG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 TECPR2 Louise Daugherty reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 SLC33A1 Louise Daugherty commented on gene: SLC33A1
Hereditary spastic paraplegia v1.203 SLC25A46 Louise Daugherty reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 REEP2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia v1.203 REEP2 Louise Daugherty commented on gene: REEP2: Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019
Hereditary spastic paraplegia v1.203 REEP2 Louise Daugherty edited their review of gene: REEP2: Added comment: Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019; Changed rating: AMBER
Hereditary spastic paraplegia v1.203 PSEN1 Louise Daugherty reviewed gene: PSEN1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 MTPAP Louise Daugherty reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 MARS2 Louise Daugherty reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 MAG Louise Daugherty reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 LYST Louise Daugherty reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 KIF1C Louise Daugherty reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 KDM5C Louise Daugherty reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 IBA57 Louise Daugherty reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 GJC2 Louise Daugherty reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 GCH1 Louise Daugherty reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 DSTYK Louise Daugherty edited their review of gene: DSTYK: Changed rating: AMBER
Hereditary spastic paraplegia v1.203 DSTYK Louise Daugherty commented on gene: DSTYK
Hereditary spastic paraplegia v1.203 DARS Louise Daugherty reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 CDK16 Louise Daugherty commented on gene: CDK16
Hereditary spastic paraplegia v1.203 CAPN1 Louise Daugherty reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 AP5Z1 Louise Daugherty reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 AMPD2 Louise Daugherty reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 TFG Louise Daugherty Classified gene: TFG as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.203 TFG Louise Daugherty Gene: tfg has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.202 SLC33A1 Louise Daugherty Classified gene: SLC33A1 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.202 SLC33A1 Louise Daugherty Gene: slc33a1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.201 MTPAP Louise Daugherty Classified gene: MTPAP as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.201 MTPAP Louise Daugherty Gene: mtpap has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.200 MARS2 Louise Daugherty Classified gene: MARS2 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.200 MARS2 Louise Daugherty Gene: mars2 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.199 KIF1C Louise Daugherty Classified gene: KIF1C as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.199 KIF1C Louise Daugherty Gene: kif1c has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.198 UBAP1 Louise Daugherty Classified gene: UBAP1 as Green List (high evidence)
Hereditary spastic paraplegia v1.198 UBAP1 Louise Daugherty Gene: ubap1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.197 UBAP1 Louise Daugherty gene: UBAP1 was added
gene: UBAP1 was added to Hereditary spastic paraplegia. 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: 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.
Sources: Literature
Hereditary spastic paraplegia v1.196 EIF2B5 Chris Buxton gene: EIF2B5 was added
gene: EIF2B5 was added to Hereditary spastic paraplegia. Sources: Expert list
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B5 were set to See OMIM https://www.omim.org/entry/603896
Phenotypes for gene: EIF2B5 were set to progressive cerebellar ataxia; spasticity; cognitive impairment
Penetrance for gene: EIF2B5 were set to unknown
Mode of pathogenicity for gene: EIF2B5 was set to Other
Review for gene: EIF2B5 was set to AMBER
gene: EIF2B5 was marked as current diagnostic
Added comment: Curerntly diagnostic on Sheffield's HSP panel.
Vanishing white matter leukodystrophy: Phenotype could be theoretically interpreted as HSP in an infant? so maybe only consider for Child onset HSP panel.
HGMD mostly lists missense variants
Sources: Expert list
Hereditary spastic paraplegia v1.196 NT5C2 Rebecca Foulger Phenotypes for gene: NT5C2 were changed from Spasticparaplegia 45, autosomal recessive, 613162 to Spastic paraplegia 45, autosomal recessive, 613162
Hereditary spastic paraplegia v1.195 NT5C2 Rebecca Foulger Phenotypes for gene: NT5C2 were changed from Spasticparaplegia 45, autosomal recessive 613162 to Spasticparaplegia 45, autosomal recessive, 613162
Hereditary spastic paraplegia v1.194 NT5C2 Rebecca Foulger Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive 613162 to Spasticparaplegia 45, autosomal recessive 613162
Hereditary spastic paraplegia v1.193 NT5C2 Rebecca Foulger Classified gene: NT5C2 as Green List (high evidence)
Hereditary spastic paraplegia v1.193 NT5C2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green based on curation by Sarah Leigh and feedback from Helen Brittain who notes that there are sufficient cases with a phenotype that includes spasticity to meet the threshold for inclusion; therefore a green rating seems appropriate.
Hereditary spastic paraplegia v1.193 NT5C2 Rebecca Foulger Gene: nt5c2 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.192 GCH1 Rebecca Foulger Classified gene: GCH1 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.192 GCH1 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following clinical review from Helen Brittain- Amber rating is appropriate for now, based upon the two cases and some phenotypic queries.
Hereditary spastic paraplegia v1.192 GCH1 Rebecca Foulger Gene: gch1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.191 IBA57 Rebecca Foulger Classified gene: IBA57 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.191 IBA57 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following clinical review by Helen Brittain, who notes that it is possible that the varied phenotypes are part of the spectrum of presentations within IBA57 regarding its mitochondrial function (the more commonly reported recessive phenotype of mitochondrial dysfunction encompasses spasticity in several patients). IBA57 is green on the 'Mitochondrial disorders' panel which is the better route for detecting this broader phenotype. Ideally, further cases with an understanding of the spectrum of pathogenic variants and detailed phenotypic information will help in being confident about inclusion on this HSP panel.
Hereditary spastic paraplegia v1.191 IBA57 Rebecca Foulger Gene: iba57 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.190 GCH1 Rebecca Foulger Added comment: Comment on mode of inheritance: Both literature cases (PMID:24509643; 21935284) are heterozygous, so have kept MOI as Monoallelic for now while gene is rated Amber. Note that OMIM displays AR and AD inheritance for Dystonia, DOPA-responsive, with or without hyperphenylalaninemia (MIM:128230).
Hereditary spastic paraplegia v1.190 GCH1 Rebecca Foulger Mode of inheritance for gene: GCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia v1.189 RAB3GAP2 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'monoallelic' to 'biallelic' to match PMID:24482476 and OMIM.
Hereditary spastic paraplegia v1.189 RAB3GAP2 Rebecca Foulger Mode of inheritance for gene: RAB3GAP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.188 SLC2A1 Rebecca Foulger Added comment: Comment on mode of inheritance: Although Biallelic MOI is suggested by the Reviewer Chris Buxton, PMIDs:27725288, 11136715 and 21832227 show autosomal dominant inheritance for the GLUT1 deficiency (including HSP phenotype). Therefore changed MOI to 'Monoallelic' as agreed with Arianna.
Hereditary spastic paraplegia v1.188 SLC2A1 Rebecca Foulger Mode of inheritance for gene: SLC2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia v1.187 SLC2A1 Rebecca Foulger Classified gene: SLC2A1 as Green List (high evidence)
Hereditary spastic paraplegia v1.187 SLC2A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green after review and advice from Arianna Tucci. Gene added to panel and rated Red by Chris Buxton, but sufficient cases of SLC2A1 variants and HSP phenotype from the literature to support causation.
Hereditary spastic paraplegia v1.187 SLC2A1 Rebecca Foulger Gene: slc2a1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.186 SLC2A1 Rebecca Foulger Phenotypes for gene: SLC2A1 were changed from Developmental delay; seizure; paroxysmal choreoathetosis; spastic paraplegia to Developmental delay; seizure; paroxysmal choreoathetosis; spastic paraplegia; autosomal dominant, complicated hereditary spastic paraplegia (HSP)
Hereditary spastic paraplegia v1.185 ERLIN1 Rebecca Foulger Classified gene: ERLIN1 as Green List (high evidence)
Hereditary spastic paraplegia v1.185 ERLIN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green after clinical advice from Helen Brittain, who notes that "the phenotype is certainly appropriate, it meets our guidance on number of unrelated families and >1 variant therefore it seems appropriate for a green rating. Re the nomenclature: (6-bp deletion, c.862_868delACCAGG) c.862_868del would usually indicate that 862-868 inclusive is deleted which would be 7bp... However they then wrote 6 nucleotides afterwards. If it is 6bp deleted it could be in frame (they have indicated deletion YQ) so I am not sure. On balance I think it is worth including."
Hereditary spastic paraplegia v1.185 ERLIN1 Rebecca Foulger Gene: erlin1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.184 HACE1 Rebecca Foulger Classified gene: HACE1 as Green List (high evidence)
Hereditary spastic paraplegia v1.184 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green after clinical advice from Helen Brittain who says that Progressive spasticity seems to be a clear feature and there are sufficient cases.
Hereditary spastic paraplegia v1.184 HACE1 Rebecca Foulger Gene: hace1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.183 CYP27A1 Rebecca Foulger Classified gene: CYP27A1 as Green List (high evidence)
Hereditary spastic paraplegia v1.183 CYP27A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green after clinical advice from Helen Brittain, who agrees that it seems appropriate to include in terms of phenotypic overlap. Sufficient unrelatd cases (>3) to support diagnostic rating.
Hereditary spastic paraplegia v1.183 CYP27A1 Rebecca Foulger Gene: cyp27a1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.182 GBA2 Louise Daugherty Publications for gene: GBA2 were set to Martin et al. (2013)
Hereditary spastic paraplegia v1.181 GBA2 Louise Daugherty Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive to Spastic paraplegia 46, autosomal recessive, 614409
Hereditary spastic paraplegia v1.180 ERLIN1 Rebecca Foulger Classified gene: ERLIN1 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.180 ERLIN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Green to Amber awaiting further clinical review. A note of caution: OMIM states that in the article by Novarino et al. (2014), the nomenclature for the mutation in family 1598 was inconsistent, i.e., a 6-bp deletion, c.862_868delACCAGG.
Hereditary spastic paraplegia v1.180 ERLIN1 Rebecca Foulger Gene: erlin1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.179 SLC2A1 Rebecca Foulger Publications for gene: SLC2A1 were set to 11136715; 21832227; 18606970
Hereditary spastic paraplegia v1.178 SLC2A1 Rebecca Foulger commented on gene: SLC2A1: PMID:21832227 (Weber et al 2011) identified causative variants in SLC2A1 in a German/Dutch family and an Australian monozygotic twin pair with Dystonia. In their cohort of HSP patients, one missense variant (c.138G>C/p.Q46H) was detected in one case of German origin but functional studies indicated the variant was likely benign. The authors conclude that slowly progressive spastic paraparesis complicated by PED can therefore be regarded as a novel phenotype associated with SLC2A1 mutations. However, GLUT1 defects do not seem to play a major role in other forms of autosomal dominant HSP, as suggested by the absence of pathogenic mutations in 139 HSP index patients.
Hereditary spastic paraplegia v1.178 SLC2A1 Rebecca Foulger commented on gene: SLC2A1
Hereditary spastic paraplegia v1.178 RAB3GAP2 Rebecca Foulger Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia to spastic paraplegia; Warburg micro syndrome 2, 614225
Hereditary spastic paraplegia v1.177 RAB3GAP2 Rebecca Foulger Classified gene: RAB3GAP2 as Red List (low evidence)
Hereditary spastic paraplegia v1.177 RAB3GAP2 Rebecca Foulger Gene: rab3gap2 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.176 RAB3GAP2 Rebecca Foulger Classified gene: RAB3GAP2 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.176 RAB3GAP2 Rebecca Foulger Added comment: Comment on list classification: Added to panel and rated Red by Chris Buxton (Bristol NHS). Kept rating as Red based on expert review and limited cases, as reviewed by Chris Buxton. OMIM lists progressive spastic diplegia to quadriplegia as a clinical symptom of Warburg micro syndrome 2, 614225.
Hereditary spastic paraplegia v1.176 RAB3GAP2 Rebecca Foulger Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.175 RAB3GAP2 Rebecca Foulger Publications for gene: RAB3GAP2 were set to 24482476; 29300443
Hereditary spastic paraplegia v1.174 RAB3GAP2 Rebecca Foulger Deleted their comment
Hereditary spastic paraplegia v1.174 RAB3GAP2 Rebecca Foulger commented on gene: RAB3GAP2
Hereditary spastic paraplegia v1.174 RAB3GAP2 Rebecca Foulger Publications for gene: RAB3GAP2 were set to 24482476
Hereditary spastic paraplegia v1.173 LYST Rebecca Foulger Phenotypes for gene: LYST were changed from spastic paraplegia to spastic paraplegia; Chediak-Higashi syndrome, 214500
Hereditary spastic paraplegia v1.172 LYST Rebecca Foulger Added comment: Comment on publications: PMIDs:25519960 and 25519961 are in Japanese.
Hereditary spastic paraplegia v1.172 LYST Rebecca Foulger Publications for gene: LYST were set to 24521565
Hereditary spastic paraplegia v1.171 LYST Rebecca Foulger Classified gene: LYST as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.171 LYST Rebecca Foulger Gene: lyst has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.170 LYST Rebecca Foulger Classified gene: LYST as Red List (low evidence)
Hereditary spastic paraplegia v1.170 LYST Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber. Gene added to panel by Chris Buxton (Bristol NHS) based on one family in PMID:24521565. In addition, progressive spastic paraparesis seen in affected siblings in PMID:26307451, and PMIDs 25519960 and 25519961 describe LYST as a potential HSP locus. Further cases required for a diagnostic rating.
Hereditary spastic paraplegia v1.170 LYST Rebecca Foulger Gene: lyst has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.169 LYST Rebecca Foulger commented on gene: LYST: PMID:6307451 (Desai et al 2016) report 3 affected siblings with the late-onset form of CHS, and phenotypes including progressive spastic paraparesis.
Hereditary spastic paraplegia v1.169 LYST Rebecca Foulger commented on gene: LYST
Hereditary spastic paraplegia v1.169 KLC4 Rebecca Foulger Classified gene: KLC4 as Red List (low evidence)
Hereditary spastic paraplegia v1.169 KLC4 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red. Gene was added to panel and rated Red by Chris Buxton (Bristol NHS). As the reviewer notes, there is currently 1 family from 1 paper (PMID:26423925).
Hereditary spastic paraplegia v1.169 KLC4 Rebecca Foulger Gene: klc4 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.168 KLC4 Rebecca Foulger commented on gene: KLC4
Hereditary spastic paraplegia v1.168 KLC4 Rebecca Foulger Phenotypes for gene: KLC4 were changed from spastic paraplegia to spastic paraplegia; progressive complicated spastic paraplegia
Hereditary spastic paraplegia v1.167 KDM5C Rebecca Foulger commented on gene: KDM5C: Added 'watchlist' tag.
Hereditary spastic paraplegia v1.167 KDM5C Rebecca Foulger Tag watchlist tag was added to gene: KDM5C.
Hereditary spastic paraplegia v1.167 KDM5C Rebecca Foulger Classified gene: KDM5C as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.167 KDM5C Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber. Gene added to panel and rated Red by Chris Buxton (Bristol NHS). MIM:300534 is characterized by ID, progressive spastic paraplegia, short stature, microcephaly, and dysmorphic facial appearance. Chris Buxton reports 2 families from the literature (PMIDs10982473; 15586325; 26919706) with KDM5C variants and spastic paraplegia symptoms. Therefore Amber awaiting further cases.
Hereditary spastic paraplegia v1.167 KDM5C Rebecca Foulger Gene: kdm5c has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.166 KDM5C Rebecca Foulger commented on gene: KDM5C: PMID:26919706 investigated a family of 3 boys with ID and among them identified two different variants in KDM5C: Two affected boys have c.633delG and the other has c.631delC. The boys presented with severe DD, progressive spasticity (predominantly in the lower limbs), epilepsy and subclinical hypothyroidism. The mother
has two different frameshift mutations: a heterozygous germline mutation, c.631delC, and a low-prevalence
somatic mutation, c.633delG.
Hereditary spastic paraplegia v1.166 KDM5C Rebecca Foulger commented on gene: KDM5C
Hereditary spastic paraplegia v1.166 KDM5C Rebecca Foulger Phenotypes for gene: KDM5C were changed from Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism
Hereditary spastic paraplegia v1.165 HACE1 Rebecca Foulger Phenotypes for gene: HACE1 were changed from Spastic paraplegia; psychomotor retardation; seizure to Spastic paraplegia; psychomotor retardation; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756
Hereditary spastic paraplegia v1.164 HACE1 Rebecca Foulger Classified gene: HACE1 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.164 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber awaiting further clinical review. Gene added to panel and rated Amber by Chris Buxton (Bristol NHS) based on >3 cases of patients with 'Spastic paraplegia and psychomotor retardation with or without seizures, 616756' from 2 papers (Hollstein et al., 2015/PMID:26424145 and Akawi et al., 2015/PMID:26437029).
Hereditary spastic paraplegia v1.164 HACE1 Rebecca Foulger Gene: hace1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.163 ERLIN1 Rebecca Foulger Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia; Spastic paraplegia 62, 615681
Hereditary spastic paraplegia v1.162 ERLIN1 Rebecca Foulger Classified gene: ERLIN1 as Green List (high evidence)
Hereditary spastic paraplegia v1.162 ERLIN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green based on expert review and literature evidence. Gene added to panel and rated green by Alistair Pagnamenta (University of Oxford) based on PMID:24482476 which identified 7 HSP individuals from 3 families with homozygous variants in ERLIN1. Full phenotypes of affected individuals are supplied in the supplementary material.
Hereditary spastic paraplegia v1.162 ERLIN1 Rebecca Foulger Gene: erlin1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.161 ERLIN1 Rebecca Foulger commented on gene: ERLIN1
Hereditary spastic paraplegia v1.161 DARS Rebecca Foulger Classified gene: DARS as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.161 DARS Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to match expert review and literature evidence. Added to panel and rated Amber by Chris Buxton (Bristol NHS). 2 patients in PMID:25527264 with onset in late adolescence who presented with subacute spastic paraplegia.
Hereditary spastic paraplegia v1.161 DARS Rebecca Foulger Gene: dars has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.160 DARS Rebecca Foulger commented on gene: DARS
Hereditary spastic paraplegia v1.160 DARS Rebecca Foulger Phenotypes for gene: DARS were changed from Brain stem and spinal cord Hypomyelination; leg spasticity to Brain stem and spinal cord Hypomyelination; leg spasticity; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Hereditary spastic paraplegia v1.159 CYP27A1 Rebecca Foulger Publications for gene: CYP27A1 were set to 25862734; 26874936; 28623566; 27455001; 29321515
Hereditary spastic paraplegia v1.158 CYP27A1 Rebecca Foulger Phenotypes for gene: CYP27A1 were changed from progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Hereditary spastic paraplegia v1.157 CYP27A1 Rebecca Foulger Classified gene: CYP27A1 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.157 CYP27A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber awaiting further clinical review. CYP27A1 was added to panel and rated Amber by Chris Buxton (Bristol NHS). Multiple cases from literature of spastic paresis presenting with Cerebrotendinous xanthomatosis (CTX), which is caused by variants in CYP27A1.
Hereditary spastic paraplegia v1.157 CYP27A1 Rebecca Foulger Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.156 CYP27A1 Rebecca Foulger Publications for gene: CYP27A1 were set to 25862734
Hereditary spastic paraplegia v1.155 CYP27A1 Rebecca Foulger commented on gene: CYP27A1: PMID:29321515 (Sekijima et al, 2018) conducted a Japanese survey on Cerebrotendinous xanthomatosis (CTX). The most common initial symptom was tendon xanthoma, followed next by spastic paraplegia, cognitive dysfunction, cataract, ataxia, and epilepsy.
Hereditary spastic paraplegia v1.155 CYP27A1 Rebecca Foulger commented on gene: CYP27A1: PMID:27455001 (Zhang et al 2017) report a 27 year old male with mental retardation and subsequently memory lapses, ataxia, spastic paraplegia and fuzzy language. The patient was found to have a compound het variant in CYP27A1. The article is in Chinese, preventing further reading.
Hereditary spastic paraplegia v1.155 CYP27A1 Rebecca Foulger commented on gene: CYP27A1: PMID:28623566 (Chen et al 2017) investigated clinical symptoms of Chinese CTX patients. Three novel variants of p.Arg513Cys, c.1477-2A>C in family 1 and p.Arg188Stop in family 4 (NM 000784.3) in CYP27A1 were found. The probands in the study manifested cerebellar ataxia, tendon xanthoma and spastic paresis in family 1 and 4.
Hereditary spastic paraplegia v1.155 CYP27A1 Rebecca Foulger commented on gene: CYP27A1: PMID:26874936 (Rasafio et al 2016) report 2 Italian siblings from a consanguineous family with Cerebrotendinous xanthomatosis and different phenotypes but the same G-to-A transition causing splicing alteration. The 41 year old male presented with mutacism, spastic tetraparesis, bilateral pes cavus, sialorrhea, progressive dysphagia and head dystonia. Genetic testing of other family members revealed the same variant in a sister who had mild spastic paraparesis amongst her symptoms, and a status of asymptomatic carriers of heterozygous mutation in two sisters.
Hereditary spastic paraplegia v1.155 CYP27A1 Rebecca Foulger commented on gene: CYP27A1
Hereditary spastic paraplegia v1.155 ATP13A2 Rebecca Foulger Phenotypes for gene: ATP13A2 were changed from Adult-onset lower-limb predominant spastic paraparesis to Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia
Hereditary spastic paraplegia v1.154 ATP13A2 Rebecca Foulger Publications for gene: ATP13A2 were set to 28137957
Hereditary spastic paraplegia v1.153 ATP13A2 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by PMID:28137957 and OMIM.
Hereditary spastic paraplegia v1.153 ATP13A2 Rebecca Foulger Mode of inheritance for gene: ATP13A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.152 ATP13A2 Rebecca Foulger Classified gene: ATP13A2 as Green List (high evidence)
Hereditary spastic paraplegia v1.152 ATP13A2 Rebecca Foulger Added comment: Comment on list classification: Updating rating from Red to Green based on literature evidence. ATP13A2 was added to panel and rated Red by Chris Buxton (Bristol NHS) although he provides evidence of 3 unrelated cases in PMID:28137957. PMID:27217339 (Kara et al 2016) provides evidence of an additional case. Therefore sufficient (4) unrelated cases to support diagnostic rating, and ATP13A2 is associated with Spastic paraplegia 78, autosomal recessive, 617225 in OMIM.
Hereditary spastic paraplegia v1.152 ATP13A2 Rebecca Foulger Gene: atp13a2 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.151 ATP13A2 Rebecca Foulger commented on gene: ATP13A2: In a 46-year-old man (proband 41), born of consanguineous Pakistani parents, with AR spastic paraplegia, Kara et al. (2016, PMID:27217339) identified a homozygous 3-bp deletion (c.3020_3022del, NM_001141974.2), resulting in an in-frame deletion (Phe1007del).
Hereditary spastic paraplegia v1.151 ATP13A2 Rebecca Foulger commented on gene: ATP13A2
Hereditary spastic paraplegia v1.151 ARG1 Rebecca Foulger Phenotypes for gene: ARG1 were changed from Argininaemia; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Hereditary spastic paraplegia v1.150 ARG1 Rebecca Foulger Publications for gene: ARG1 were set to 26310552; 23859858
Hereditary spastic paraplegia v1.149 ARG1 Rebecca Foulger Classified gene: ARG1 as Green List (high evidence)
Hereditary spastic paraplegia v1.149 ARG1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: ARG1 was added to the panel by Chris Buxton (Bristol NHS). Sufficient cases from PMID:23859858 (which overlaps with PMID:26310552) to support causation of progressive spastic tetraplegia. Additional cases are reported on OMIM: spastic tetraplegia was seen in a Japanese girl with argininemia and compound het variants in ARG1 (PMID:2365823, Haraguchi et al 1990), and in a Japanese patient identified by Uchino et al, 1992 (PMID:1463019) with compound het variants in ARG1.
Hereditary spastic paraplegia v1.149 ARG1 Rebecca Foulger Gene: arg1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.148 ARG1 Rebecca Foulger commented on gene: ARG1: Wu (2013, 23859858) is very similar to PMID:26310552. They investigated 5 Chinese patients (3 boys, 2 girls) with argininemia in whom it mainly manifested as progressive spastic tetraplegia. Homozygous variants in ARG1 were found in patients 1 and 5, and compound het variants were found in patients 2, 3 and 4. Although not explicitly stated, from the text it sounds like the patients are not related.
Hereditary spastic paraplegia v1.148 ARG1 Rebecca Foulger commented on gene: ARG1
Hereditary spastic paraplegia v1.148 ABCD1 Rebecca Foulger Classified gene: ABCD1 as Green List (high evidence)
Hereditary spastic paraplegia v1.148 ABCD1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green. ABCD1 was added to panel and rated Green by Chris Buxton (Bristol NHS). Sufficient unrelated cases (>3) of patients with HSP phenotype and ABCD1 variant to support causation of spastic paraplegia (see comments on individual papers for details).
Hereditary spastic paraplegia v1.148 ABCD1 Rebecca Foulger Gene: abcd1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.147 ABCD1 Rebecca Foulger Phenotypes for gene: ABCD1 were changed from Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis to Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis; Adrenoleukodystrophy, 300100
Hereditary spastic paraplegia v1.146 ABCD1 Rebecca Foulger Phenotypes for gene: ABCD1 were changed from Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation to Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis
Hereditary spastic paraplegia v1.145 ABCD1 Rebecca Foulger Publications for gene: ABCD1 were set to
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1: O'Neill (2001, 11739809) identify a large kindred with AMN phenotype resembling X-linked dominant HSP. All obligate female carriers were clinically affected. A deletion of the ABCD1 gene ATG translation initiaion codon was detected leading to an N-terminally truncated protein.
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1: Koutsis (2015, 26049658) report a Greek family with 5 males and 2 females developing progressive spastic paraplegia. NGS of the proband revealed a novel frameshift mutation in ABCD1 (c.1174_1178del, p.Leu392Serfs*7), which segregated in all family members.
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1: Zhan 2013 (PMID:23664929) investigated a Chinese family with recessive HSP. A missense variant (c.1661G>A, p.R554H) was identified in ABCD1, which co-segregated with the disease.
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1: Balicza (2016, 27084228) carried out genetic testing for 58 probands with clinical features of HSP. Results included one hemizygous variant in ABCD1 (c.1553G>C, p.Arg518Pro) in a male patient with sporadic spastic paraparesis. His disease started at age 28. The authors report that there are other similar cases where ABCD1 variants mimic HSP.
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1
Hereditary spastic paraplegia v1.144 FXN_GAA Louise Daugherty Pathogenic Number of Repeats for FXN_GAA was changed from 63 to 66.
Hereditary spastic paraplegia v1.143 FXN_GAA Louise Daugherty GRCh38 position for FXN_GAA was changed from 69037287-69037303 to 69037287-69037304.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary spastic paraplegia v1.142 HTT_CAG Louise Daugherty GRCh38 position for HTT_CAG was changed from 3074875-3074939 to 3074877-3074939.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary spastic paraplegia v1.141 SLC2A1 Sarah Leigh Classified gene: SLC2A1 as Red List (low evidence)
Hereditary spastic paraplegia v1.141 SLC2A1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.141 SLC2A1 Sarah Leigh Gene: slc2a1 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.140 RAB3GAP2 Sarah Leigh Classified gene: RAB3GAP2 as Red List (low evidence)
Hereditary spastic paraplegia v1.140 RAB3GAP2 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.140 RAB3GAP2 Sarah Leigh Gene: rab3gap2 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.139 LYST Sarah Leigh Classified gene: LYST as Red List (low evidence)
Hereditary spastic paraplegia v1.139 LYST Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.139 LYST Sarah Leigh Gene: lyst has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.138 KLC4 Sarah Leigh Classified gene: KLC4 as Red List (low evidence)
Hereditary spastic paraplegia v1.138 KLC4 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.138 KLC4 Sarah Leigh Gene: klc4 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.137 KDM5C Sarah Leigh Classified gene: KDM5C as Red List (low evidence)
Hereditary spastic paraplegia v1.137 KDM5C Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.137 KDM5C Sarah Leigh Gene: kdm5c has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.136 HACE1 Sarah Leigh Classified gene: HACE1 as Red List (low evidence)
Hereditary spastic paraplegia v1.136 HACE1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.136 HACE1 Sarah Leigh Gene: hace1 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.135 HACE1 Sarah Leigh Classified gene: HACE1 as Red List (low evidence)
Hereditary spastic paraplegia v1.135 HACE1 Sarah Leigh Gene: hace1 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.134 ERLIN1 Sarah Leigh Classified gene: ERLIN1 as Red List (low evidence)
Hereditary spastic paraplegia v1.134 ERLIN1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.134 ERLIN1 Sarah Leigh Gene: erlin1 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.133 DARS Sarah Leigh Classified gene: DARS as Red List (low evidence)
Hereditary spastic paraplegia v1.133 DARS Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.133 DARS Sarah Leigh Gene: dars has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.132 CYP27A1 Sarah Leigh Classified gene: CYP27A1 as Red List (low evidence)
Hereditary spastic paraplegia v1.132 CYP27A1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.132 CYP27A1 Sarah Leigh Gene: cyp27a1 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.131 ATP13A2 Sarah Leigh Classified gene: ATP13A2 as Red List (low evidence)
Hereditary spastic paraplegia v1.131 ATP13A2 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.131 ATP13A2 Sarah Leigh Gene: atp13a2 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.130 ARG1 Sarah Leigh Classified gene: ARG1 as Red List (low evidence)
Hereditary spastic paraplegia v1.130 ARG1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.130 ARG1 Sarah Leigh Gene: arg1 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.129 ABCD1 Sarah Leigh Classified gene: ABCD1 as Red List (low evidence)
Hereditary spastic paraplegia v1.129 ABCD1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.129 ABCD1 Sarah Leigh Gene: abcd1 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.128 IBA57 Rebecca Foulger Classified gene: IBA57 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.128 IBA57 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Amber: Gene added and rated Red by Chris Buxton (Bristol NHS) based on 1 family in PMID:25609768. 2 additional families in PMID:30258207 (2018) but phenotype is variable and 2 Jewish brothers with same compound het variants have different symptoms. Therefore rated Amber awaiting clinical feedback.
Hereditary spastic paraplegia v1.128 IBA57 Rebecca Foulger Gene: iba57 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.127 IBA57 Rebecca Foulger Phenotypes for gene: IBA57 were changed from spastic paraplegia to ?Spastic paraplegia 74, autosomal recessive, 616451
Hereditary spastic paraplegia v1.126 IBA57 Rebecca Foulger Publications for gene: IBA57 were set to 25609768
Hereditary spastic paraplegia v1.125 IBA57 Rebecca Foulger commented on gene: IBA57: PMID:30258207 (Hamanaka et al, 2018) performed whole-exome sequencing in 2 unrelated families (Sepharadi Jewish and Japanese) with leukodystrophy. The 29-year-old Sepharadi Jewish male had clinically asymptomatic leukodystrophy. His 19-year-old younger brother, with the same compound heterozygous IBA57 variants, had a similar clinical course until 7 years of age when he developed a rapidly progressive spastic paraparesis following a febrile illness. A 7-year-old Japanese girl had developmental regression, spastic quadriplegia, and abnormal periventricular white matter. Therefore HSP symptoms amongst the individuals but phenotypes are very varied.
Hereditary spastic paraplegia v1.125 IBA57 Rebecca Foulger commented on gene: IBA57
Hereditary spastic paraplegia v1.125 GCH1 Rebecca Foulger Classified gene: GCH1 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.125 GCH1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Amber awaiting feedback from clinical team. 2 literature cases of HSP phenotype in PMIDs:24509643,21935284 both of which involved previous misdiagnosis of DRD/cerebral palsy.
Hereditary spastic paraplegia v1.125 GCH1 Rebecca Foulger Gene: gch1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.124 GCH1 Rebecca Foulger commented on gene: GCH1: PMID:21935284 (Lee et al. 2011) report a novel initiation codon mutation (c.1A>T; p.Met1Leu) in GCH1 in a patient with dopa-responsive dystonia (DRD) that had previously been mis-diagnosed as cerbral palsy.
Hereditary spastic paraplegia v1.124 GCH1 Rebecca Foulger commented on gene: GCH1
Hereditary spastic paraplegia v1.124 GCH1 Rebecca Foulger Mode of inheritance for gene: GCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia v1.123 GCH1 Rebecca Foulger Phenotypes for gene: GCH1 were changed from Dystonia; Spastic paraplegia; progressive spastic paraplegia; dopa-responsive dystonia (DRD) to Dystonia; Spastic paraplegia; progressive spastic paraplegia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
Hereditary spastic paraplegia v1.122 GCH1 Rebecca Foulger Phenotypes for gene: GCH1 were changed from Dystonia; Spastic paraplegia to Dystonia; Spastic paraplegia; progressive spastic paraplegia; dopa-responsive dystonia (DRD)
Hereditary spastic paraplegia v1.121 FARS2 Rebecca Foulger Classified gene: FARS2 as Green List (high evidence)
Hereditary spastic paraplegia v1.121 FARS2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: Gene added and rated green by Chris Buxton (Bristol NHS). At least 4 unrelated cases of FARS2 variants causing autosomal recessive HSP in the literature (PMIDs 30250868,26553276,25851414,29126765) plus functional support.
Hereditary spastic paraplegia v1.121 FARS2 Rebecca Foulger Gene: fars2 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.120 FARS2 Rebecca Foulger commented on gene: FARS2: In 2 unrelated patients with mitochondrial dysfunction and spastic paraplegia, Vantroys et al. (2017, PMID:29126765) identified compound heterozygous variants in the FARS2 gene: (c.1082C-T, NM_006567.4, P361L) in both probands, combined with A154V in proband 1, and a 3-bp deletion (c.521_523delTGG) in proband 2.
Hereditary spastic paraplegia v1.120 FARS2 Rebecca Foulger commented on gene: FARS2: In 2 sibs with mitochondrial dysfunction and spastic paraplegia, Vernon et al. (2015, PMID:25851414) identified compound het variants in the FARS2 gene: a paternally inherited R419C and a maternally inherited 116-kb interstitial deletion including all of exon 6 and parts of introns 5 and 6.
Hereditary spastic paraplegia v1.120 FARS2 Rebecca Foulger commented on gene: FARS2: In 4 sibs, born of consanguineous Chinese parents, with AR spastic paraplegia, Yang et al. (2016, PMID:26553276) identified a homozygous transversion (c.424G-T, NM_006567.3) in the FARS2 gene (D142Y).
Hereditary spastic paraplegia v1.120 FARS2 Rebecca Foulger commented on gene: FARS2
Hereditary spastic paraplegia v1.120 FARS2 Rebecca Foulger Publications for gene: FARS2 were set to 30250868; 26553276; 29126765
Hereditary spastic paraplegia v1.119 FARS2 Rebecca Foulger Phenotypes for gene: FARS2 were changed from spastic paraplegia to Spastic paraplegia 77, autosomal recessive, 617046
Hereditary spastic paraplegia v1.118 FARS2 Rebecca Foulger Publications for gene: FARS2 were set to
Hereditary spastic paraplegia v1.117 MAG Rebecca Foulger commented on gene: MAG: Added watchlist tag.
Hereditary spastic paraplegia v1.117 MAG Rebecca Foulger Tag watchlist tag was added to gene: MAG.
Hereditary spastic paraplegia v1.117 MAG Rebecca Foulger Classified gene: MAG as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.117 MAG Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Amber: Gene added and rated red by Chris Buxton (Bristol NHS) based on 1 family in PMID:24482476. One additional family reported in PMID:26179919 but require at least one further case for diagnostic rating.
Hereditary spastic paraplegia v1.117 MAG Rebecca Foulger Gene: mag has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.116 MAG Rebecca Foulger commented on gene: MAG: In 3 siblings with AR spastic paraplegia born of consanguineous Palestinian parents, Lossos et al. (2015, PMID:26179919) identified a homozygous c.399C-G transversion in the MAG gene (S133R).
Hereditary spastic paraplegia v1.116 MAG Rebecca Foulger commented on gene: MAG
Hereditary spastic paraplegia v1.116 MAG Rebecca Foulger Phenotypes for gene: MAG were changed from spastic paprplegia to Spastic paraplegia 75, autosomal recessive, 616680
Hereditary spastic paraplegia v1.115 MAG Rebecca Foulger Publications for gene: MAG were set to
Hereditary spastic paraplegia v1.114 KIF1C Sarah Leigh Publications for gene: KIF1C were set to Dor et al. (2014)
Hereditary spastic paraplegia v1.113 NT5C2 Sarah Leigh Publications for gene: NT5C2 were set to 28884889; 28327087; 29123918
Hereditary spastic paraplegia v1.112 NT5C2 Sarah Leigh Publications for gene: NT5C2 were set to Novarino et al. (2014)
Hereditary spastic paraplegia v1.111 NT5C2 Sarah Leigh Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45,613162 to Spasticparaplegia45, autosomal recessive 613162
Hereditary spastic paraplegia v1.110 ATXN7_CAG Louise Daugherty Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7 164500
Hereditary spastic paraplegia v1.109 ATXN3_CAG Louise Daugherty Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease 109150
Hereditary spastic paraplegia v1.108 CACNA1A_CAG Louise Daugherty Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6 183086
Hereditary spastic paraplegia v1.107 ATXN2_CAG Louise Daugherty Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2 183090
Hereditary spastic paraplegia v1.106 ATXN1_CAG Louise Daugherty Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400
Hereditary spastic paraplegia v1.105 TBP_CAG Arianna Tucci Phenotypes for STR: TBP_CAG were changed from to Spinocerebellar ataxia 17 607136
Hereditary spastic paraplegia v1.104 PPP2R2B_CAG Arianna Tucci Phenotypes for STR: PPP2R2B_CAG were changed from to Spinocerebellar ataxia 12 604326
Hereditary spastic paraplegia v1.103 HTT_CAG Arianna Tucci Phenotypes for STR: HTT_CAG were changed from to Huntington disease 143100
Hereditary spastic paraplegia v1.102 FXN_GAA Arianna Tucci Phenotypes for STR: FXN_GAA were changed from to Friedreich ataxia 229300
Hereditary spastic paraplegia v1.101 CACNA1A_CAG Arianna Tucci Phenotypes for STR: CACNA1A_CAG were changed from to Spinocerebellar ataxia 6 183086
Hereditary spastic paraplegia v1.100 ATXN7_CAG Arianna Tucci Phenotypes for STR: ATXN7_CAG were changed from to Spinocerebellar ataxia 7 164500
Hereditary spastic paraplegia v1.99 ATXN3_CAG Arianna Tucci Phenotypes for STR: ATXN3_CAG were changed from to Machado-Joseph disease 109150
Hereditary spastic paraplegia v1.98 ATXN2_CAG Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090
Hereditary spastic paraplegia v1.97 ATXN1_CAG Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from to Spinocerebellar ataxia 1 164400
Hereditary spastic paraplegia v1.96 ATXN10_ATTCT Arianna Tucci Phenotypes for STR: ATXN10_ATTCT were changed from to Spinocerebellar ataxia 10 603516
Hereditary spastic paraplegia v1.95 TBP_CAG Louise Daugherty Tag STR tag was added to STR: TBP_CAG.
Hereditary spastic paraplegia v1.95 PPP2R2B_CAG Louise Daugherty Tag STR tag was added to STR: PPP2R2B_CAG.
Hereditary spastic paraplegia v1.95 HTT_CAG Louise Daugherty Tag STR tag was added to STR: HTT_CAG.
Hereditary spastic paraplegia v1.95 FXN_GAA Louise Daugherty Tag STR tag was added to STR: FXN_GAA.
Hereditary spastic paraplegia v1.95 ATXN7_CAG Louise Daugherty Tag STR tag was added to STR: ATXN7_CAG.
Hereditary spastic paraplegia v1.95 CACNA1A_CAG Louise Daugherty Tag STR tag was added to STR: CACNA1A_CAG.
Hereditary spastic paraplegia v1.95 ATXN3_CAG Louise Daugherty Tag STR tag was added to STR: ATXN3_CAG.
Hereditary spastic paraplegia v1.95 ATXN2_CAG Louise Daugherty Tag STR tag was added to STR: ATXN2_CAG.
Hereditary spastic paraplegia v1.95 ATXN10_ATTCT Louise Daugherty Tag STR tag was added to STR: ATXN10_ATTCT.
Hereditary spastic paraplegia v1.95 ATXN1_CAG Louise Daugherty Tag STR tag was added to STR: ATXN1_CAG.
Hereditary spastic paraplegia v1.95 TBP_CAG Arianna Tucci Marked STR: TBP_CAG as ready
Hereditary spastic paraplegia v1.95 TBP_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary spastic paraplegia v1.95 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.95 TBP_CAG Arianna Tucci Classified STR: TBP_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.95 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.94 TBP_CAG Arianna Tucci STR: TBP_CAG was added
STR: TBP_CAG was added to Hereditary spastic paraplegia. Sources: Expert Review
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STR: TBP_CAG was marked as current diagnostic
Hereditary spastic paraplegia v1.93 PPP2R2B_CAG Arianna Tucci Classified STR: PPP2R2B_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.93 PPP2R2B_CAG Arianna Tucci Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.92 PPP2R2B_CAG Arianna Tucci Marked STR: PPP2R2B_CAG as ready
Hereditary spastic paraplegia v1.92 PPP2R2B_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary spastic paraplegia v1.92 PPP2R2B_CAG Arianna Tucci Str: ppp2r2b_cag has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.92 PPP2R2B_CAG Arianna Tucci STR: PPP2R2B_CAG was added
STR: PPP2R2B_CAG was added to Hereditary spastic paraplegia. Sources: Expert Review
Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STR: PPP2R2B_CAG was marked as current diagnostic
Hereditary spastic paraplegia v1.91 ATXN10_ATTCT Arianna Tucci Marked STR: ATXN10_ATTCT as ready
Hereditary spastic paraplegia v1.91 ATXN10_ATTCT Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary spastic paraplegia v1.91 ATXN10_ATTCT Arianna Tucci Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.91 ATXN10_ATTCT Arianna Tucci Classified STR: ATXN10_ATTCT as Green List (high evidence)
Hereditary spastic paraplegia v1.91 ATXN10_ATTCT Arianna Tucci Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.90 ATXN10_ATTCT Arianna Tucci STR: ATXN10_ATTCT was added
STR: ATXN10_ATTCT was added to Hereditary spastic paraplegia. Sources: Expert Review
Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STR: ATXN10_ATTCT was marked as current diagnostic
Hereditary spastic paraplegia v1.89 ATXN7_CAG Arianna Tucci Marked STR: ATXN7_CAG as ready
Hereditary spastic paraplegia v1.89 ATXN7_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary spastic paraplegia v1.89 ATXN7_CAG Arianna Tucci Str: atxn7_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.89 ATXN7_CAG Arianna Tucci Classified STR: ATXN7_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.89 ATXN7_CAG Arianna Tucci Str: atxn7_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.88 ATXN7_CAG Arianna Tucci STR: ATXN7_CAG was added
STR: ATXN7_CAG was added to Hereditary spastic paraplegia. Sources: Expert Review
Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STR: ATXN7_CAG was marked as current diagnostic
Hereditary spastic paraplegia v1.87 CACNA1A_CAG Arianna Tucci Marked STR: CACNA1A_CAG as ready
Hereditary spastic paraplegia v1.87 CACNA1A_CAG Arianna Tucci Added comment: Comment when marking as ready: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary spastic paraplegia v1.87 CACNA1A_CAG Arianna Tucci Str: cacna1a_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.87 CACNA1A_CAG Arianna Tucci Classified STR: CACNA1A_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.87 CACNA1A_CAG Arianna Tucci Str: cacna1a_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.86 CACNA1A_CAG Arianna Tucci STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Hereditary spastic paraplegia. Sources: Expert Review
Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STR: CACNA1A_CAG was marked as current diagnostic
Hereditary spastic paraplegia v1.85 ATXN3_CAG Arianna Tucci Marked STR: ATXN3_CAG as ready
Hereditary spastic paraplegia v1.85 ATXN3_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary spastic paraplegia v1.85 ATXN3_CAG Arianna Tucci Str: atxn3_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.85 ATXN3_CAG Arianna Tucci Classified STR: ATXN3_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.85 ATXN3_CAG Arianna Tucci Str: atxn3_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.84 ATXN3_CAG Arianna Tucci STR: ATXN3_CAG was added
STR: ATXN3_CAG was added to Hereditary spastic paraplegia. Sources: Expert Review
Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STR: ATXN3_CAG was marked as current diagnostic
Hereditary spastic paraplegia v1.83 ATXN2_CAG Arianna Tucci Classified STR: ATXN2_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.83 ATXN2_CAG Arianna Tucci Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.82 ATXN2_CAG Arianna Tucci STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Hereditary spastic paraplegia. Sources: Expert Review
Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert Review
Hereditary spastic paraplegia v1.81 ATXN1_CAG Arianna Tucci Marked STR: ATXN1_CAG as ready
Hereditary spastic paraplegia v1.81 ATXN1_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary spastic paraplegia v1.81 ATXN1_CAG Arianna Tucci Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.81 ATXN1_CAG Arianna Tucci Classified STR: ATXN1_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.81 ATXN1_CAG Arianna Tucci Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.80 ATXN1_CAG Arianna Tucci STR: ATXN1_CAG was added
STR: ATXN1_CAG was added to Hereditary spastic paraplegia. Sources: Expert Review
Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for STR: ATXN1_CAG was set to GREEN
Added comment: Sources: Expert Review
Hereditary spastic paraplegia v1.79 HTT_CAG Arianna Tucci Marked STR: HTT_CAG as ready
Hereditary spastic paraplegia v1.79 HTT_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as green following the Webex discussion with HD experts (6/09/2018) about feeding back HTT results
Hereditary spastic paraplegia v1.79 HTT_CAG Arianna Tucci Str: htt_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.79 HTT_CAG Arianna Tucci Classified STR: HTT_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.79 HTT_CAG Arianna Tucci Str: htt_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.78 HTT_CAG Arianna Tucci Pathogenic Number of Repeats for HTT_CAG was changed from 37 to 40.
Hereditary spastic paraplegia v1.77 HTT_CAG Arianna Tucci Pathogenic Number of Repeats for HTT_CAG was changed from 38 to 37.
Hereditary spastic paraplegia v1.75 HTT_CAG Arianna Tucci STR: HTT_CAG was added
STR: HTT_CAG was added to Hereditary spastic paraplegia. Sources: Expert Review
Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for STR: HTT_CAG was set to GREEN
Added comment: Added to the panel following the Webex discussion with GMC experts (6/09/2018) about feeding back HTT results
Sources: Expert Review
Hereditary spastic paraplegia v1.74 FXN_GAA Arianna Tucci Marked STR: FXN_GAA as ready
Hereditary spastic paraplegia v1.74 FXN_GAA Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary spastic paraplegia v1.74 FXN_GAA Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.74 FXN_GAA Arianna Tucci Classified STR: FXN_GAA as Green List (high evidence)
Hereditary spastic paraplegia v1.74 FXN_GAA Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.73 FXN_GAA Arianna Tucci STR: FXN_GAA was added
STR: FXN_GAA was added to Hereditary spastic paraplegia. Sources: Expert Review
Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal
STR: FXN_GAA was marked as current diagnostic
Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert Review
Hereditary spastic paraplegia v1.72 ERLIN1 Rebecca Foulger Publications for gene: ERLIN1 were set to PMID: 24482476
Hereditary spastic paraplegia v1.71 HACE1 Chris Buxton gene: HACE1 was added
gene: HACE1 was added to Hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HACE1 were set to 26424145; 26437029
Phenotypes for gene: HACE1 were set to Spastic paraplegia; psychomotor retardation; seizure
Penetrance for gene: HACE1 were set to unknown
Review for gene: HACE1 was set to AMBER
Added comment: Associated with 'Spastic paraplegia and psychomotor retardation with or without seizures' is an autosomal recessive complex neurodevelopmental disorder with onset in infancy

Hollstein (2015, 26424145): Exome study, 2 families with 8 affected individuals with biallelic LoF variants. Absence of expressed protein shown by Western blots.

Akawi (2015, 26437029) 6 patients from 4 unrelated families with SPPRS (truncal hypotonia and mixed spastic and dystonic tetraparesis)
Sources: Literature
Hereditary spastic paraplegia v1.71 DARS Chris Buxton gene: DARS was added
gene: DARS was added to Hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS were set to 23643384; 25527264
Phenotypes for gene: DARS were set to Brain stem and spinal cord Hypomyelination; leg spasticity
Penetrance for gene: DARS were set to unknown
Review for gene: DARS was set to AMBER
Added comment: HGMD: 15 missense, 1 ins associated with: Hypomyelination with brain stem and spinal cord involvement and leg spasticity:
An autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation
Taft (2013, 23643384) identiofied compound-heterozygous and homozygous DARS missense variants in 7 unrelated families with severe lower limb spasticity associated with leukoencephalopathy
Phenotype expanded by Wolf (2015, 25527264) to later onset and subacute spastic paraplegia.
Sources: Literature
Hereditary spastic paraplegia v1.71 ATP13A2 Chris Buxton gene: ATP13A2 was added
gene: ATP13A2 was added to Hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 28137957
Phenotypes for gene: ATP13A2 were set to Adult-onset lower-limb predominant spastic paraparesis
Penetrance for gene: ATP13A2 were set to unknown
Review for gene: ATP13A2 was set to RED
Added comment: Estrada-Cuzcano (2017, 28137957). Biallelic LoF varaints cause complicated hereditary spastic paraplegia.
Exome study identified biallelic missense . Further analysis of 795 HSP /erlated disorders identified 2 families with truncating ATP13A2 variants. Some supportive functional studies.
Clin: Adult-onset lower-limb predominant spastic paraparesis
Sources: Literature
Hereditary spastic paraplegia v1.71 SLC2A1 Chris Buxton gene: SLC2A1 was added
gene: SLC2A1 was added to Hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: SLC2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A1 were set to 11136715; 21832227; 18606970
Phenotypes for gene: SLC2A1 were set to Developmental delay; seizure; paroxysmal choreoathetosis; spastic paraplegia
Penetrance for gene: SLC2A1 were set to unknown
Review for gene: SLC2A1 was set to RED
Added comment: Spastic diplegia described as a component phenotype with a more complex presentation
Klepper (2001, 11136715) described diplegic spasticity associated with other dev delay and seizure phenotype in sibs with a het GLUT1 variant. Weber (2011, 21832227) desribed childhood onset paroxysmal choreoathetosis and progressive spastic paraplegia and het varaints in SLC2A1.
Zorzi (2008, 18606970) described a 22yo Italian woman with het denovo missense in SLC2A1 with delayed psychomotor development, mild mental retardation, microcephaly, dysarthria, and spasticity.
Diagnostic on Sheffield HSP panel.
Sources: Literature
Hereditary spastic paraplegia v1.71 RAB3GAP2 Chris Buxton gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: RAB3GAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB3GAP2 were set to 24482476
Phenotypes for gene: RAB3GAP2 were set to spastic paraplegia
Penetrance for gene: RAB3GAP2 were set to unknown
Review for gene: RAB3GAP2 was set to RED
Added comment: Described as a candidate HSP gene: Novarino (2014, 24482476)
single account. Diagnostic on Sheffield HSP panel.
Sources: Literature
Hereditary spastic paraplegia v1.71 LYST Chris Buxton gene: LYST was added
gene: LYST was added to Hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 24521565
Phenotypes for gene: LYST were set to spastic paraplegia
Penetrance for gene: LYST were set to unknown
Added comment: Shimazaki (2014, 24521565), homozygous LYST (c.4189T>G, p.F1397V).
Gene predominantly associated with Chediak-Higashi syndrome. one publication describing a HSP like phenotype.
Diagnostic on Sheffield HSP panel
Sources: Literature
Hereditary spastic paraplegia v1.71 KLC4 Chris Buxton gene: KLC4 was added
gene: KLC4 was added to Hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: KLC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLC4 were set to 26423925
Phenotypes for gene: KLC4 were set to spastic paraplegia
Penetrance for gene: KLC4 were set to Complete
Review for gene: KLC4 was set to RED
Added comment: Bayrakli (2015, 26423925). Affected, homozygous fs in three individuals in the same family.
One family, limited evidence
Diagnostic on Sheffield HSP panel
Sources: Literature
Hereditary spastic paraplegia v1.71 GCH1 Chris Buxton gene: GCH1 was added
gene: GCH1 was added to Hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: GCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GCH1 were set to 24509643; 21935284
Phenotypes for gene: GCH1 were set to Dystonia; Spastic paraplegia
Penetrance for gene: GCH1 were set to unknown
Review for gene: GCH1 was set to GREEN
Added comment: Fan (2014, 24509643) het for nonsense variant previously associated with dopa-responsive dystonia. Authors observe that Dopa-responsive Dystonia can resemble HSP

Lee (2011, 21935284), another example of DRD misdiagnosed as Cerebral palsy with GCH1 c.1A>T; p.Met1Leu missense
Diagnostic on Sheffield HSP panel
Sources: Literature
Hereditary spastic paraplegia v1.71 FARS2 Chris Buxton edited their review of gene: FARS2: Changed publications: 30250868, 26553276, 29126765
Hereditary spastic paraplegia v1.71 FARS2 Chris Buxton gene: FARS2 was added
gene: FARS2 was added to Hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FARS2 were set to spastic paraplegia
Penetrance for gene: FARS2 were set to unknown
Review for gene: FARS2 was set to GREEN
Added comment: Sahai (2018, 30250868) FARS2 cpd hhet with pure spastic paraplegia syndrome associated with bilateral signal abnormalities in the dentate nuclei. Biochemical evalutatoin showed impacts on activity of impacted enzyme .

Yang (2016, 26553276), FARS cpd het on exome study, functional studies supportive. Phenotype is Spastic Paraplegia.

Vantroys (2017, 29126765) writes that FARS can be associated with (i) an epileptic phenotype, and (ii) a spastic paraplegia phenotype. Descroibes 2 probands with phenotype including spasticity with cpd het varaints in FARs
Sources: Literature
Hereditary spastic paraplegia v1.71 CYP27A1 Chris Buxton gene: CYP27A1 was added
gene: CYP27A1 was added to Hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to 25862734
Phenotypes for gene: CYP27A1 were set to progressive lower extremity spasticity,often disproportionate to any degree of weakness
Penetrance for gene: CYP27A1 were set to unknown
Review for gene: CYP27A1 was set to AMBER
Added comment: Nicholls (2015, 25862734)
Cerebrotendinous xanthomatosis AR disorder of bile acid metabolism can mimic more common conditions such as hereditary spastic paraparesis, or MS particularly if the phenotype is spinal xanthomatosis where the disease causes a spastic paraplegia
Associated with rased cholestanol. paper describes homozygous, previously reported CYP27A1 variant, c.1183C>T, p.Arg395Trp (R395W)
Diagnostic on Sheffield HSP panel
Sources: Literature
Hereditary spastic paraplegia v1.71 ARG1 Chris Buxton gene: ARG1 was added
gene: ARG1 was added to Hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 26310552; 23859858
Phenotypes for gene: ARG1 were set to Argininaemia; Progressive spastic tetraplegia
Penetrance for gene: ARG1 were set to unknown
Added comment: Spastic tetraplegia noted with ARG1 deficiency argininemia in neonates. Symptoms similar to cerebeal palsy so Dx is delayed
Wu (2015, 26310552) identified 9 ARG1 varaints in 7 patients.

Wu (2013, 23859858), similar paper to the above one. Progressive spastic tetraplegia, poor physical growth from 1 month to 4 years. When argininemia was found at the ages of 4 to 12 years, four of patients had mental retardation, and three had seizures. 6 ARG1 mutations identified.

On Sheffield HSP panel
Sources: Literature
Hereditary spastic paraplegia v1.71 REEP2 Chris Buxton edited their review of gene: REEP2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.71 REEP2 Chris Buxton reviewed gene: REEP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28491902; Phenotypes: spastic paprplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.71 MAG Chris Buxton edited their review of gene: MAG: Changed publications: 24482476
Hereditary spastic paraplegia v1.71 MAG Chris Buxton gene: MAG was added
gene: MAG was added to Hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAG were set to spastic paprplegia
Penetrance for gene: MAG were set to unknown
Review for gene: MAG was set to RED
Added comment: 1 family Novarino (2014, 24482476). Homozygous Cys430Gly with HSp phenotype. No other detail. 1 family. Limited evidence
Diagnostic on Sheffield HSP panel
Sources: Literature
Hereditary spastic paraplegia v1.71 KDM5C Chris Buxton gene: KDM5C was added
gene: KDM5C was added to Hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: KDM5C were set to 10982473; 15586325; 26919706
Phenotypes for gene: KDM5C were set to Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism
Penetrance for gene: KDM5C were set to unknown
Review for gene: KDM5C was set to RED
Added comment: Claes (2000, 10982473) reported candidate HSP locus Xp21.1-Xq21.3. Jensen (2005, 15586325) identified as JARID1C(syn)/KDM5C gene: c.2191C>T Leu731Phe. 4 males in same pedigree: two generations present with severe MR, slowly progressive spastic paraplegia, facial hypotonia, and maxillary hypoplasia. Additional features are aggressive behavior and strabismus;

Fujita (2016, 26919706). Two different fs deletion variants. maternal reversion mechanims? Progressive spasticity component to phenotype.

Currently diagnostic on Sheffield's HSP panel
Sources: Literature
Hereditary spastic paraplegia v1.71 IBA57 Chris Buxton gene: IBA57 was added
gene: IBA57 was added to Hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IBA57 were set to 25609768
Phenotypes for gene: IBA57 were set to spastic paraplegia
Penetrance for gene: IBA57 were set to unknown
Review for gene: IBA57 was set to RED
Added comment: Lossos (2015, 25609768). Homozygous donor splice-site mutation in the IBA57. mRNA studies done, some protein studies support pathogenicity. 1 family, limited evidence.
Sources: Literature
Hereditary spastic paraplegia v1.71 ABCD1 Chris Buxton edited their review of gene: ABCD1: Changed publications: 11810273, 27084228, 11739809, 26049658
Hereditary spastic paraplegia v1.71 ABCD1 Chris Buxton gene: ABCD1 was added
gene: ABCD1 was added to Hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ABCD1 were set to Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation
Penetrance for gene: ABCD1 were set to unknown
Review for gene: ABCD1 was set to GREEN
Added comment: Guimarães (2001, 11810273), X-linked adrenoleukodystrophy.
Spastic paraparesis with neurophysiologic abnormalities with an altered spinal cord MRI and a normal cerebral MRI. 2 different splice variants described

Balicza (2016, 27084228), hereditary spastic paraplegia phenotype
Spastic paraparesis; c.1553G>C p.R518P (no details)

O'Neill (2001, 11739809), X-linked dominant hereditary spastic paraparesis
Obligate female carriers affected, deletion 26 bp nt. 369-394, 5'UTR-cd.3

Koutsis (2015, 26049658) progressive spastic paraplegia with raised VLCFA, ABCD1 (c.1174_1178del, p.Leu392Serfs*7)

Gene is on Sheffield's HSP panel
Sources: Literature
Hereditary spastic paraplegia v1.71 ZEB2 Chris Buxton reviewed gene: ZEB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mowat Wilson; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.71 WDR48 Chris Buxton reviewed gene: WDR48: Rating: RED; Mode of pathogenicity: None; Publications: 22717650; Phenotypes: Early onset spastic paraparesis, mild intellectual disability, kyphosis, pectus carinatum, hypertrichosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.71 TFG Chris Buxton reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: 23479643, 27492651, 27601211; Phenotypes: spastic paraplegia, optic atrophy, neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.71 TECPR2 Chris Buxton edited their review of gene: TECPR2: Changed phenotypes: complex HSP/dysautonomia
Hereditary spastic paraplegia v1.71 TECPR2 Chris Buxton reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23176824, 25590979; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.71 PGAP1 Chris Buxton reviewed gene: PGAP1: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: not stated; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.71 MTPAP Chris Buxton reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20970105, 25008111, 27391121; Phenotypes: cerebellar ataxia, spastic paraparesis, dysarthria, optic atrophy, learning difficulties; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.71 MTPAP Chris Buxton Deleted their review
Hereditary spastic paraplegia v1.71 MTPAP Chris Buxton commented on gene: MTPAP
Hereditary spastic paraplegia v1.71 MARS2 Chris Buxton reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22448145; Phenotypes: Spastic Ataxia, Leukoencephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.71 GJC2 Chris Buxton reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.71 GAD1 Chris Buxton reviewed gene: GAD1: Rating: RED; Mode of pathogenicity: None; Publications: 15571623; Phenotypes: Cerebral palsy, spastic, symmetric; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.71 ENTPD1 Chris Buxton reviewed gene: ENTPD1: Rating: RED; Mode of pathogenicity: None; Publications: 29691679, 24482476; Phenotypes: cognitive delay, spastic paraplegia, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.71 ARSI Chris Buxton reviewed gene: ARSI: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Abnormal gait, Nonambulatory, Absent deep tendon reflexes, Pes equinovarus, Corpus callosum & cerebellar hypoplasia, colpocephaly, Severe sensory/motor polyneuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.71 AMPD2 Chris Buxton reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: spastic paprplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.71 NT5C2 Chris Buxton reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28884889, 28327087, 29123918; Phenotypes: spastic paraplegia, mental retardation, Thin Corpus Callosum associated HSP; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.71 KIF1C Chris Buxton reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 24319291, 24482476, 17273843; Phenotypes: cerebellar ataxia, dysarthria, variable spasticity of the lower limbs, Cognition is not affected; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.71 ARL6IP1 Chris Buxton reviewed gene: ARL6IP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28471035, 24482476; Phenotypes: spastic paraplegia, sensory and motor polyneuropathy, congenital insensitivity to pain, acromutilation, spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.71 AP5Z1 Chris Buxton reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27606357; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.71 ERLIN1 Alistair Pagnamenta commented on gene: ERLIN1: Novarino et al (2014) reported 7 affected individuals from 3 different consanguineous families had homozygous variants in this gene co-segregating consistent with an AR mode of inheritance. In the first of these families, significant evidence for genetic linkage was identified on 10q (pLOD >3.0) and this region harboured p.R255X (see PMID: 24482476)
Hereditary spastic paraplegia v1.71 ERLIN1 Alistair Pagnamenta gene: ERLIN1 was added
gene: ERLIN1 was added to Hereditary spastic paraplegia. Sources: Other
Mode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERLIN1 were set to PMID: 24482476
Phenotypes for gene: ERLIN1 were set to Hereditary spastic paraplegia
Penetrance for gene: ERLIN1 were set to unknown
Review for gene: ERLIN1 was set to GREEN
Added comment: Sources: Other
Hereditary spastic paraplegia v1.71 Ellen McDonagh Panel name changed from Hereditary spastic paraplegia - childhood onset to Hereditary spastic paraplegia
List of related panels changed from Hereditary spastic paraplegia to
Panel types changed to Rare Disease 100K
Hereditary spastic paraplegia v1.70 Ellen McDonagh Panel name changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia - childhood onset
Hereditary spastic paraplegia v1.69 Ellen McDonagh List of related panels changed from to Hereditary spastic paraplegia
Hereditary spastic paraplegia v1.68 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Hereditary spastic paraplegia v1.67 SLC1A4 Louise Daugherty Classified gene: SLC1A4 as Green List (high evidence)
Hereditary spastic paraplegia v1.67 SLC1A4 Louise Daugherty Added comment: Comment on list classification: New gene suggested by external reviewer and reviewed by curation team. More than three unrelated individuals reported in the literature, ID is part of the phenotype. Publications support gene-disease association and rating of this gene to Green.
Hereditary spastic paraplegia v1.67 SLC1A4 Louise Daugherty Gene: slc1a4 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.66 SLC1A4 Louise Daugherty gene: SLC1A4 was added
gene: SLC1A4 was added to Hereditary spastic paraplegia. Sources: Expert Review
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Review for gene: SLC1A4 was set to GREEN
Added comment: From review left on the Genetic Epilepsy Syndromes panel by Zornitza Stark (Australian Genomics) 4 Sep 2018, 3:29 a.m. Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants.
Genomics England clinical team also thought the gene was relevant to the Hereditary spastic paraplegia.
Sources: Expert Review
Hereditary spastic paraplegia ERLIN2 Louise Daugherty classified ERLIN2 as Green List (high evidence)
Hereditary spastic paraplegia POLR3A Louise Daugherty classified POLR3A as Green List (high evidence)
Hereditary spastic paraplegia POLR3A Louise Daugherty Added gene to panel
Hereditary spastic paraplegia CAPN1 Arianna Tucci marked gene: CAPN1 as ready
Hereditary spastic paraplegia CAPN1 Arianna Tucci classified CAPN1 as Green List (high evidence)
Hereditary spastic paraplegia CAPN1 Arianna Tucci edited their review of gene: CAPN1
Hereditary spastic paraplegia CAPN1 Arianna Tucci Added gene to panel
Hereditary spastic paraplegia KIDINS220 Helen Brittain marked KIDINS220 as ready
Hereditary spastic paraplegia KIDINS220 Helen Brittain classified KIDINS220 as Green List (high evidence)
Hereditary spastic paraplegia KIDINS220 Helen Brittain Added gene to panel
Hereditary spastic paraplegia CDK16 Sarah Leigh classified CDK16 as Amber List (moderate evidence)
Hereditary spastic paraplegia CDK16 Sarah Leigh Added gene to panel
Hereditary spastic paraplegia SERAC1 Louise Daugherty classified SERAC1 as Green List (high evidence)
Hereditary spastic paraplegia SERAC1 Louise Daugherty Added gene to panel
Hereditary spastic paraplegia PCDH12 Ellen McDonagh Added gene to panel
Hereditary spastic paraplegia REEP2 Louise Daugherty classified REEP2 as Amber List (moderate evidence)
Hereditary spastic paraplegia REEP2 Louise Daugherty Added gene to panel
Hereditary spastic paraplegia OPA3 Louise Daugherty classified OPA3 as green
Hereditary spastic paraplegia OPA3 Louise Daugherty added OPA3 to panel
Hereditary spastic paraplegia OPA3 Louise Daugherty reviewed OPA3
Hereditary spastic paraplegia TECPR2 Rebecca Foulger commented on TECPR2
Hereditary spastic paraplegia VAMP1 Rebecca Foulger edited their review of VAMP1
Hereditary spastic paraplegia VAMP1 Rebecca Foulger commented on VAMP1
Hereditary spastic paraplegia AP5Z1 Jo Martindale reviewed AP5Z1
Hereditary spastic paraplegia SLC25A46 Sarah Leigh classified SLC25A46 as green
Hereditary spastic paraplegia SLC25A46 Sarah Leigh added SLC25A46 to panel
Hereditary spastic paraplegia SLC25A46 Sarah Leigh reviewed SLC25A46
Hereditary spastic paraplegia NKX6-2 Sarah Leigh classified NKX6-2 as green
Hereditary spastic paraplegia NKX6-2 Sarah Leigh added NKX6-2 to panel
Hereditary spastic paraplegia NKX6-2 Sarah Leigh reviewed NKX6-2
Hereditary spastic paraplegia SPG14 Louise Daugherty classified SPG14 as grey
Hereditary spastic paraplegia SPG14 Louise Daugherty commented on SPG14
Hereditary spastic paraplegia SPG16 Louise Daugherty classified SPG16 as grey
Hereditary spastic paraplegia SPG16 Louise Daugherty commented on SPG16
Hereditary spastic paraplegia SPG19 Louise Daugherty classified SPG19 as grey
Hereditary spastic paraplegia SPG19 Louise Daugherty commented on SPG19
Hereditary spastic paraplegia SPG29 Louise Daugherty classified SPG29 as grey
Hereditary spastic paraplegia SPG29 Louise Daugherty commented on SPG29
Hereditary spastic paraplegia SPG27 Louise Daugherty classified SPG27 as grey
Hereditary spastic paraplegia SPG27 Louise Daugherty commented on SPG27
Hereditary spastic paraplegia SPG25 Louise Daugherty classified SPG25 as grey
Hereditary spastic paraplegia SPG25 Louise Daugherty commented on SPG25
Hereditary spastic paraplegia SPG24 Louise Daugherty classified SPG24 as grey
Hereditary spastic paraplegia SPG24 Louise Daugherty commented on SPG24
Hereditary spastic paraplegia SPG23 Louise Daugherty classified SPG23 as grey
Hereditary spastic paraplegia SPG23 Louise Daugherty commented on SPG23
Hereditary spastic paraplegia SPG32 Louise Daugherty classified SPG32 as grey
Hereditary spastic paraplegia SPG32 Louise Daugherty commented on SPG32
Hereditary spastic paraplegia SPG34 Louise Daugherty classified SPG34 as grey
Hereditary spastic paraplegia SPG34 Louise Daugherty commented on SPG34
Hereditary spastic paraplegia SPG36 Louise Daugherty classified SPG36 as grey
Hereditary spastic paraplegia SPG36 Louise Daugherty commented on SPG36
Hereditary spastic paraplegia SPG37 Louise Daugherty commented on SPG37
Hereditary spastic paraplegia SPG37 Louise Daugherty classified SPG37 as grey
Hereditary spastic paraplegia SPG38 Louise Daugherty classified SPG38 as grey
Hereditary spastic paraplegia SPG38 Louise Daugherty commented on SPG38
Hereditary spastic paraplegia SPG41 Louise Daugherty classified SPG41 as grey
Hereditary spastic paraplegia SPG41 Louise Daugherty commented on SPG41
Hereditary spastic paraplegia WDR45B Sarah Leigh classified WDR45B as green
Hereditary spastic paraplegia WDR45B Sarah Leigh added WDR45B to panel
Hereditary spastic paraplegia WDR45B Sarah Leigh reviewed WDR45B
Hereditary spastic paraplegia SPG20 Louise Daugherty commented on SPG20
Hereditary spastic paraplegia DSTYK Rebecca Foulger commented on DSTYK
Hereditary spastic paraplegia DSTYK Rebecca Foulger commented on DSTYK
Hereditary spastic paraplegia DSTYK Rebecca Foulger added DSTYK to panel
Hereditary spastic paraplegia DSTYK Rebecca Foulger reviewed DSTYK
Hereditary spastic paraplegia TUBB4A Ellen McDonagh classified TUBB4A as green
Hereditary spastic paraplegia TUBB4A Ellen McDonagh added TUBB4A to panel
Hereditary spastic paraplegia TUBB4A Ellen McDonagh reviewed TUBB4A
Hereditary spastic paraplegia ADAR Arianna Tucci classified ADAR as green
Hereditary spastic paraplegia ADAR Arianna Tucci added ADAR to panel
Hereditary spastic paraplegia ADAR Arianna Tucci reviewed ADAR
Hereditary spastic paraplegia ALS2 Richard Scott marked ALS2 as ready
Hereditary spastic paraplegia ALS2 Richard Scott classified ALS2 as green
Hereditary spastic paraplegia ALS2 Richard Scott added ALS2 to panel
Hereditary spastic paraplegia ALS2 Richard Scott reviewed ALS2
Hereditary spastic paraplegia AIMP1 Richard Scott marked AIMP1 as ready
Hereditary spastic paraplegia AIMP1 Richard Scott classified AIMP1 as green
Hereditary spastic paraplegia AIMP1 Richard Scott added AIMP1 to panel
Hereditary spastic paraplegia AIMP1 Richard Scott reviewed AIMP1
Hereditary spastic paraplegia KIF1C Alice Gardham reviewed KIF1C
Hereditary spastic paraplegia SPG41 Ellen McDonagh commented on SPG41
Hereditary spastic paraplegia SPG38 Ellen McDonagh commented on SPG38
Hereditary spastic paraplegia SPG37 Ellen McDonagh commented on SPG37
Hereditary spastic paraplegia SPG36 Ellen McDonagh commented on SPG36
Hereditary spastic paraplegia SPG34 Ellen McDonagh commented on SPG34
Hereditary spastic paraplegia SPG32 Ellen McDonagh commented on SPG32
Hereditary spastic paraplegia SPG29 Ellen McDonagh commented on SPG29
Hereditary spastic paraplegia SPG27 Ellen McDonagh commented on SPG27
Hereditary spastic paraplegia SPG25 Ellen McDonagh commented on SPG25
Hereditary spastic paraplegia SPG24 Ellen McDonagh commented on SPG24
Hereditary spastic paraplegia SPG23 Ellen McDonagh commented on SPG23
Hereditary spastic paraplegia SPG19 Ellen McDonagh commented on SPG19
Hereditary spastic paraplegia SPG16 Ellen McDonagh commented on SPG16
Hereditary spastic paraplegia SPG14 Ellen McDonagh commented on SPG14
Hereditary spastic paraplegia KIAA0196 Louise Daugherty commented on KIAA0196
Hereditary spastic paraplegia SPG9 Louise Daugherty commented on SPG9
Hereditary spastic paraplegia KIF1A Ellen Thomas commented on KIF1A