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Paroxysmal central nervous system disorders v1.4 ATP1A4 Zornitza Stark gene: ATP1A4 was added
gene: ATP1A4 was added to Paroxysmal central nervous system disorders. Sources: Literature
Mode of inheritance for gene: ATP1A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A4 were set to 32549268
Phenotypes for gene: ATP1A4 were set to Hemiplegic migraine
Review for gene: ATP1A4 was set to RED
Added comment: Single family reported where missense variant segregated with hemiplegic migraine in four affected individuals.
Sources: Literature
Paroxysmal central nervous system disorders v1.4 CSNK1D Sarah Leigh reviewed gene: CSNK1D: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Paroxysmal central nervous system disorders v1.4 CSNK1D Sarah Leigh Tag for-review tag was added to gene: CSNK1D.
Paroxysmal central nervous system disorders v1.4 CSNK1D Zornitza Stark reviewed gene: CSNK1D: Rating: AMBER; Mode of pathogenicity: None; Publications: 15800623, 23636092; Phenotypes: Advanced sleep-phase syndrome, familial, 2 615224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal central nervous system disorders v1.4 PDE2A Zornitza Stark reviewed gene: PDE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32467598, 32196122, 29392776; Phenotypes: Paroxysmal dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Paroxysmal central nervous system disorders v1.4 DNMT1 Eleanor Williams Publications for gene: DNMT1 were set to 23904686; 22328086; 24709307
Paroxysmal central nervous system disorders v1.3 DNMT1 Eleanor Williams reviewed gene: DNMT1: Rating: ; Mode of pathogenicity: None; Publications: 31984424; Phenotypes: ; Mode of inheritance: None
Paroxysmal central nervous system disorders v1.3 KCNJ18 Eleanor Williams Tag ensembl_ids_known_missing tag was added to gene: KCNJ18.
Paroxysmal central nervous system disorders v1.3 KCNJ18 Eleanor Williams commented on gene: KCNJ18
Paroxysmal central nervous system disorders v1.3 Rebecca Foulger Panel version has been signed off
Paroxysmal central nervous system disorders v1.2 Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Paroxysmal central nervous system disorders v1.0 Rebecca Foulger promoted panel to version 1.0
Paroxysmal central nervous system disorders v0.174 Rebecca Foulger Panel types changed to GMS Rare Disease; GMS signed-off
Paroxysmal central nervous system disorders v0.173 CACNB4 Rebecca Foulger changed review comment from: Reviews by Andrea Nemeth and Jonathan William were uploaded (September 29th 2019) on their behalf based on email discussion of these genes to reach a consensus on the rating. Comments were received over email, and I uploaded an Amber review based on their comments.; to: Reviews by Andrea Nemeth and Jonathan Williams were uploaded (September 29th 2019) on their behalf based on email discussion of these genes to reach a consensus on the rating. Comments were received over email, and I uploaded an Amber review based on their comments.
Paroxysmal central nervous system disorders v0.173 CACNB4 Rebecca Foulger changed review comment from: Comment on list classification: Downgraded CACNB4 rating from Green to Amber based on GLH review. The most recent comments from Andrea Nemeth and Jonathan William agree that there is only weak evidence to support a gene:disease association. The current evidence comes from PMID:10762541 which reports 1 family (plus another family with epilepsy), and a mouse model.; to: Comment on list classification: Downgraded CACNB4 rating from Green to Amber based on GLH review. The most recent comments from Andrea Nemeth and Jonathan Williams agree that there is only weak evidence to support a gene:disease association. The current evidence comes from PMID:10762541 which reports 1 family (plus another family with epilepsy), and a mouse model.
Paroxysmal central nervous system disorders v0.172 GLRA1 Rebecca Foulger Phenotypes for gene: GLRA1 were changed from Hyperekplexia, hereditary 1, 149400 to Hyperekplexia 1, 149400
Paroxysmal central nervous system disorders v0.171 ATP1A2 Rebecca Foulger Phenotypes for gene: ATP1A2 were changed from Migraine, familial hemiplegic, 2, 602481; Migraine, familial basilar, 602481alternating hemiplegia of childhood 104290 to Migraine, familial hemiplegic, 2, 602481; Migraine, familial basilar, 602481; alternating hemiplegia of childhood 104290
Paroxysmal central nervous system disorders v0.170 ATP1A2 Rebecca Foulger Phenotypes for gene: ATP1A2 were changed from familial basilar migraine 602481; alternating hemiplegia of childhood 104290; familial hemiplegic migraine type 2, 602481 to Migraine, familial hemiplegic, 2, 602481; Migraine, familial basilar, 602481alternating hemiplegia of childhood 104290
Paroxysmal central nervous system disorders v0.169 ATAD1 Rebecca Foulger changed review comment from: Comment on list classification: Upgraded ATAD1 from Amber to Green to match Green rating of other Hyperkeplexia genes (GLRA1, GLRB, SLC6A5). A comment from Robyn Labrum (University College London Hospitals) on behalf of London North GLH for the GMS Neurology specialist test group (received via email, September 30th 2019) notes that Hyperkeplexia genes should be included on the panel if the clinicians agree.; to: Comment on list classification: Upgraded ATAD1 from Amber to Green to match Green rating of other Hyperkeplexia genes (GLRA1, GLRB, SLC6A5). A comment from Robyn Labrum (University College London Hospitals) on behalf of London North GLH for the GMS Neurology specialist test group (received via email, September 30th 2019) notes that Hyperekplexia genes should be included on the panel if the clinicians agree.
Paroxysmal central nervous system disorders v0.169 Rebecca Foulger List of related panels changed from Paroxysmal neurological disorders; pain disorders and sleep disorders to Paroxysmal neurological disorders; pain disorders and sleep disorders; R66
Paroxysmal central nervous system disorders v0.168 NKX2-1 Rebecca Foulger Publications for gene: NKX2-1 were set to 24555207
Paroxysmal central nervous system disorders v0.167 ISCA-37468-Loss Rebecca Foulger Classified Region: ISCA-37468-Loss as Red List (low evidence)
Paroxysmal central nervous system disorders v0.167 ISCA-37468-Loss Rebecca Foulger Added comment: Comment on list classification: Demoted CNV from Green to Red based on GLH review and a recent comment (September 30th 2019) from Robyn Labrum (University College London Hospitals) collated on behalf of London North GLH for the GMS Neurology specialist test group: Inappropriate phenotype. Better suited to ataxia panels, epilepsy or muscular dystrophy panel.
Paroxysmal central nervous system disorders v0.167 ISCA-37468-Loss Rebecca Foulger Region: isca-37468-loss has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.166 TBP_CAG Rebecca Foulger Classified STR: TBP_CAG as Red List (low evidence)
Paroxysmal central nervous system disorders v0.166 TBP_CAG Rebecca Foulger Added comment: Comment on list classification: Demoted STR from Green to Red based on GLH review and a recent comment (September 30th 2019) from Robyn Labrum (University College London Hospitals) collated on behalf of London North GLH for the GMS Neurology specialist test group: Inappropriate phenotype. Better suited to ataxia panels, epilepsy or muscular dystrophy panel.
Paroxysmal central nervous system disorders v0.166 TBP_CAG Rebecca Foulger Str: tbp_cag has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.165 DMPK_CTG Rebecca Foulger Classified STR: DMPK_CTG as Red List (low evidence)
Paroxysmal central nervous system disorders v0.165 DMPK_CTG Rebecca Foulger Added comment: Comment on list classification: Demoted STR from Green to Red based on GLH review and a recent comment (September 30th 2019) from Robyn Labrum (University College London Hospitals) collated on behalf of London North GLH for the GMS Neurology specialist test group: Inappropriate phenotype. Better suited to ataxia panels, epilepsy or muscular dystrophy panel.
Paroxysmal central nervous system disorders v0.165 DMPK_CTG Rebecca Foulger Str: dmpk_ctg has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.164 CSTB_CCCCGCCCCGCG Rebecca Foulger Classified STR: CSTB_CCCCGCCCCGCG as Red List (low evidence)
Paroxysmal central nervous system disorders v0.164 CSTB_CCCCGCCCCGCG Rebecca Foulger Added comment: Comment on list classification: Demoted STR from Green to Red based on GLH review and a recent comment (September 30th 2019) from Robyn Labrum (University College London Hospitals) collated on behalf of London North GLH for the GMS Neurology specialist test group: Inappropriate phenotype. Better suited to ataxia panels, epilepsy or muscular dystrophy panel.
Paroxysmal central nervous system disorders v0.164 CSTB_CCCCGCCCCGCG Rebecca Foulger Str: cstb_ccccgccccgcg has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.163 CACNA1A_CAG Rebecca Foulger Classified STR: CACNA1A_CAG as Red List (low evidence)
Paroxysmal central nervous system disorders v0.163 CACNA1A_CAG Rebecca Foulger Added comment: Comment on list classification: Demoted STR from Green to Red based on GLH review and a recent comment (September 30th 2019) from Robyn Labrum (University College London Hospitals) collated on behalf of London North GLH for the GMS Neurology specialist test group: Inappropriate phenotype. Better suited to ataxia panels, epilepsy or muscular dystrophy panel.
Paroxysmal central nervous system disorders v0.163 CACNA1A_CAG Rebecca Foulger Str: cacna1a_cag has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.162 ATN1_CAG Rebecca Foulger Classified STR: ATN1_CAG as Red List (low evidence)
Paroxysmal central nervous system disorders v0.162 ATN1_CAG Rebecca Foulger Added comment: Comment on list classification: Demoted STR from Green to Red based on GLH review and a recent comment (September 30th 2019) from Robyn Labrum (University College London Hospitals) collated on behalf of London North GLH for the GMS Neurology specialist test group: Inappropriate phenotype. Better suited to ataxia panels, epilepsy or muscular dystrophy panel.
Paroxysmal central nervous system disorders v0.162 ATN1_CAG Rebecca Foulger Str: atn1_cag has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.161 ATAD1 Rebecca Foulger Classified gene: ATAD1 as Green List (high evidence)
Paroxysmal central nervous system disorders v0.161 ATAD1 Rebecca Foulger Added comment: Comment on list classification: Upgraded ATAD1 from Amber to Green to match Green rating of other Hyperkeplexia genes (GLRA1, GLRB, SLC6A5). A comment from Robyn Labrum (University College London Hospitals) on behalf of London North GLH for the GMS Neurology specialist test group (received via email, September 30th 2019) notes that Hyperkeplexia genes should be included on the panel if the clinicians agree.
Paroxysmal central nervous system disorders v0.161 ATAD1 Rebecca Foulger Gene: atad1 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.160 VAMP2 Rebecca Foulger commented on gene: VAMP2: Review from Robyn Labrum (University College London Hospitals) was collated (September 30th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. This is a gene that was re-reviewed to reach a consensus- The comment by Robyn Labrum was expanded from previous comment. No new rating was submitted so the suggested rating remains as Green.
Paroxysmal central nervous system disorders v0.160 KCNK18 Rebecca Foulger Marked gene: KCNK18 as ready
Paroxysmal central nervous system disorders v0.160 KCNK18 Rebecca Foulger Gene: kcnk18 has been classified as Amber List (Moderate Evidence).
Paroxysmal central nervous system disorders v0.160 KCNK18 Rebecca Foulger Classified gene: KCNK18 as Amber List (moderate evidence)
Paroxysmal central nervous system disorders v0.160 KCNK18 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber based on consensus of GLH review.
Paroxysmal central nervous system disorders v0.160 KCNK18 Rebecca Foulger Gene: kcnk18 has been classified as Amber List (Moderate Evidence).
Paroxysmal central nervous system disorders v0.159 KCNK18 Rebecca Foulger commented on gene: KCNK18: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 30th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Amber. This is a gene that was re-reviewed to reach a consensus, and therefore the rating by Robyn Labrum has changed from Red to Amber.
Paroxysmal central nervous system disorders v0.159 MOG Rebecca Foulger Marked gene: MOG as ready
Paroxysmal central nervous system disorders v0.159 MOG Rebecca Foulger Gene: mog has been classified as Amber List (Moderate Evidence).
Paroxysmal central nervous system disorders v0.159 MOG Rebecca Foulger Classified gene: MOG as Amber List (moderate evidence)
Paroxysmal central nervous system disorders v0.159 MOG Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber based on consensus GLH review- insufficient evidence for Green rating.
Paroxysmal central nervous system disorders v0.159 MOG Rebecca Foulger Gene: mog has been classified as Amber List (Moderate Evidence).
Paroxysmal central nervous system disorders v0.158 MOG Rebecca Foulger commented on gene: MOG: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 30th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: None submitted but comment suggests Amber. This is a gene that was re-reviewed to reach a consensus, and therefore the rating by Robyn Labrum has changed from Green to Amber in PanelApp.
Paroxysmal central nervous system disorders v0.158 CACNB4 Rebecca Foulger Marked gene: CACNB4 as ready
Paroxysmal central nervous system disorders v0.158 CACNB4 Rebecca Foulger Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Paroxysmal central nervous system disorders v0.158 CACNB4 Rebecca Foulger commented on gene: CACNB4: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 30th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: ? Amber. This review agrees with the recent downgrading of CACNB4 to Amber.
Paroxysmal central nervous system disorders v0.158 VAMP2 Robyn Labrum commented on gene: VAMP2: Recent publication (Salpietro et al. Am J Hum Genet. 2019 Apr 4;104(4):721-730) de novo mutations in 5 unrelated individuals phenotype neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. More severe phenotype includes additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. ?Better on intellectual disability or neurodevelopmental panel. Needs clinical input.
Paroxysmal central nervous system disorders v0.158 KCNK18 Robyn Labrum edited their review of gene: KCNK18: Added comment: Phenotype is migraine with aura in one family - amber.; Changed rating: AMBER
Paroxysmal central nervous system disorders v0.158 MOG Robyn Labrum edited their review of gene: MOG: Added comment: In a single large Spanish family across 4 generations. All 11 affected members studied and 1 who did not completely fulfill the diagnostic criteria for narcolepsy carried the mutation, whereas all 14 unaffected family members studied did not have the mutation. Is this sufficient evidence? If not then it should be amber.; Changed rating: AMBER
Paroxysmal central nervous system disorders v0.158 CACNB4 Robyn Labrum reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.157 TBP_CAG Rebecca Foulger commented on STR: TBP_CAG: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: TBP_CAG. Suggested rating: ?; Comments provided: Triplet repeat.
Paroxysmal central nervous system disorders v0.157 DMPK_CTG Rebecca Foulger commented on STR: DMPK_CTG: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: DMPK_CTG. Suggested rating: ?; Comments provided: Triplet repeat.
Paroxysmal central nervous system disorders v0.157 CSTB_CCCCGCCCCGCG Rebecca Foulger commented on STR: CSTB_CCCCGCCCCGCG: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: CSTB_CCCCGCCCCGCG. Suggested rating: ?; Comments provided: STR.
Paroxysmal central nervous system disorders v0.157 CACNA1A_CAG Rebecca Foulger commented on STR: CACNA1A_CAG: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: CACNA1A_CAG. Suggested rating: ?; Comments provided: Triplet repeat. Primarily an ataxia gene.
Paroxysmal central nervous system disorders v0.157 ATN1_CAG Rebecca Foulger commented on STR: ATN1_CAG: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: ATN1_CAG. Suggested rating: ?; Comments provided: Triplet repeat. Primarily an ataxia gene. Also ataxia is not episodic/paroxysmal in nature.
Paroxysmal central nervous system disorders v0.157 CACNB4 Rebecca Foulger Classified gene: CACNB4 as Amber List (moderate evidence)
Paroxysmal central nervous system disorders v0.157 CACNB4 Rebecca Foulger Added comment: Comment on list classification: Downgraded CACNB4 rating from Green to Amber based on GLH review. The most recent comments from Andrea Nemeth and Jonathan William agree that there is only weak evidence to support a gene:disease association. The current evidence comes from PMID:10762541 which reports 1 family (plus another family with epilepsy), and a mouse model.
Paroxysmal central nervous system disorders v0.157 CACNB4 Rebecca Foulger Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Paroxysmal central nervous system disorders v0.156 CACNB4 Rebecca Foulger commented on gene: CACNB4: Reviews by Andrea Nemeth and Jonathan William were uploaded (September 29th 2019) on their behalf based on email discussion of these genes to reach a consensus on the rating. Comments were received over email, and I uploaded an Amber review based on their comments.
Paroxysmal central nervous system disorders v0.156 CACNB4 Jonathan Williams reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.155 CACNB4 Andrea Nemeth reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.154 NMNAT2 Rebecca Foulger Publications for gene: NMNAT2 were set to 31132363
Paroxysmal central nervous system disorders v0.153 NMNAT2 Rebecca Foulger Classified gene: NMNAT2 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.153 NMNAT2 Rebecca Foulger Added comment: Comment on list classification: This gene has been rated Red until there is more information to support a gene-disease association. The current information in the literature does not support a Green rating as suggested by external reviewer on the 'Pain syndromes' panel: there are not sufficient cases, only an animal model (PMID:31136762)
Paroxysmal central nervous system disorders v0.153 NMNAT2 Rebecca Foulger Gene: nmnat2 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.152 NMNAT2 Rebecca Foulger gene: NMNAT2 was added
gene: NMNAT2 was added to Paroxysmal central nervous system disorders. Sources: Other
Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT2 were set to 31132363
Phenotypes for gene: NMNAT2 were set to polyneuropathy; erythromelalgia
Review for gene: NMNAT2 was set to RED
Added comment: Michael Coleman (University of Cambridge) added NMNAT2 to the 'Pain syndromes' panel and Rated Green with the comment: "Strong evidence of a key role in axon survival from mouse studies (PMID 20126265 and other studies)".

I copied NMNAT2 to the Paroxysmal panel because 'Pain syndromes' was one of the panels used to create the initial Paroxysmal entity list.

Publication PMID:31132363 and phenotypes 'polyneuropathy; erythromelalgia' were suggested by Michael Coleman.
Sources: Other
Paroxysmal central nervous system disorders v0.151 MOG Rebecca Foulger commented on gene: MOG: PMID:21907016: In affected members of a large Spanish family with narcolepsy and cataplexy, Hor et al. (2011) identified a heterozygous 398C-G transversion in the MOG gene (p.S133C). 12 family members had narcolepsy and cataplexy, 7 of whom were obese and 4 of whom had type 2 diabetes. All 11 affected members studied (plus 1 who did not completely fulfill the diagnostic criteria for narcolepsy) carried the variant, whereas all 14 unaffected family members studied did not have the variant.
Paroxysmal central nervous system disorders v0.151 PER2 Rebecca Foulger Marked gene: PER2 as ready
Paroxysmal central nervous system disorders v0.151 PER2 Rebecca Foulger Gene: per2 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.151 NGF Rebecca Foulger Marked gene: NGF as ready
Paroxysmal central nervous system disorders v0.151 NGF Rebecca Foulger Gene: ngf has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.151 KCNJ2 Rebecca Foulger Marked gene: KCNJ2 as ready
Paroxysmal central nervous system disorders v0.151 KCNJ2 Rebecca Foulger Gene: kcnj2 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.151 WNK1 Rebecca Foulger Marked gene: WNK1 as ready
Paroxysmal central nervous system disorders v0.151 WNK1 Rebecca Foulger Gene: wnk1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.151 UBR4 Rebecca Foulger Marked gene: UBR4 as ready
Paroxysmal central nervous system disorders v0.151 UBR4 Rebecca Foulger Gene: ubr4 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.151 TTR Rebecca Foulger Marked gene: TTR as ready
Paroxysmal central nervous system disorders v0.151 TTR Rebecca Foulger Gene: ttr has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.151 TRPV4 Rebecca Foulger Marked gene: TRPV4 as ready
Paroxysmal central nervous system disorders v0.151 TRPV4 Rebecca Foulger Gene: trpv4 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.151 TRPV4 Rebecca Foulger Phenotypes for gene: TRPV4 were changed from sexual disinhibition; confusion; apathi; impaired memory; impaired speech; compulsive eating and drinking (or decreased eating); irritability; recurrent hypersomnia; behavioral disturbances; transient symptoms at the end, amnesia, moderate elation and insomnia; Monozygotic twins concordant for Kleine-Levin Syndrome; altered tactile, gustative, and olphatory perceptions; normality between episodes; feeling of unreality; depression and anxiety to Hereditary motor and sensory neuropathy, type IIc, 606071; sexual disinhibition; confusion; apathi; impaired memory; impaired speech; compulsive eating and drinking (or decreased eating); irritability; recurrent hypersomnia; behavioral disturbances; transient symptoms at the end, amnesia, moderate elation and insomnia; Monozygotic twins concordant for Kleine-Levin Syndrome; altered tactile, gustative, and olphatory perceptions; normality between episodes; feeling of unreality; depression and anxiety
Paroxysmal central nervous system disorders v0.150 TRPA1 Rebecca Foulger Marked gene: TRPA1 as ready
Paroxysmal central nervous system disorders v0.150 TRPA1 Rebecca Foulger Gene: trpa1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.150 TBP Rebecca Foulger Marked gene: TBP as ready
Paroxysmal central nervous system disorders v0.150 TBP Rebecca Foulger Gene: tbp has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.150 SPTLC2 Rebecca Foulger Marked gene: SPTLC2 as ready
Paroxysmal central nervous system disorders v0.150 SPTLC2 Rebecca Foulger Gene: sptlc2 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.150 SPTLC1 Rebecca Foulger Marked gene: SPTLC1 as ready
Paroxysmal central nervous system disorders v0.150 SPTLC1 Rebecca Foulger Gene: sptlc1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.150 SPR Rebecca Foulger Marked gene: SPR as ready
Paroxysmal central nervous system disorders v0.150 SPR Rebecca Foulger Gene: spr has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.150 SLC6A4 Rebecca Foulger Marked gene: SLC6A4 as ready
Paroxysmal central nervous system disorders v0.150 SLC6A4 Rebecca Foulger Gene: slc6a4 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.150 SEPT9 Rebecca Foulger Marked gene: SEPT9 as ready
Paroxysmal central nervous system disorders v0.150 SEPT9 Rebecca Foulger Gene: sept9 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.150 SCN9A Rebecca Foulger Marked gene: SCN9A as ready
Paroxysmal central nervous system disorders v0.150 SCN9A Rebecca Foulger Gene: scn9a has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.150 SCN4A Rebecca Foulger Marked gene: SCN4A as ready
Paroxysmal central nervous system disorders v0.150 SCN4A Rebecca Foulger Gene: scn4a has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.150 SCN11A Rebecca Foulger Marked gene: SCN11A as ready
Paroxysmal central nervous system disorders v0.150 SCN11A Rebecca Foulger Gene: scn11a has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.150 SCN10A Rebecca Foulger Marked gene: SCN10A as ready
Paroxysmal central nervous system disorders v0.150 SCN10A Rebecca Foulger Gene: scn10a has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.150 RYR1 Rebecca Foulger Marked gene: RYR1 as ready
Paroxysmal central nervous system disorders v0.150 RYR1 Rebecca Foulger Gene: ryr1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.150 RETREG1 Rebecca Foulger Marked gene: RETREG1 as ready
Paroxysmal central nervous system disorders v0.150 RETREG1 Rebecca Foulger Gene: retreg1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.150 RAB7A Rebecca Foulger Marked gene: RAB7A as ready
Paroxysmal central nervous system disorders v0.150 RAB7A Rebecca Foulger Gene: rab7a has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.150 PYGM Rebecca Foulger Marked gene: PYGM as ready
Paroxysmal central nervous system disorders v0.150 PYGM Rebecca Foulger Gene: pygm has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.150 PRNP Rebecca Foulger Marked gene: PRNP as ready
Paroxysmal central nervous system disorders v0.150 PRNP Rebecca Foulger Gene: prnp has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.150 PRDM12 Rebecca Foulger Marked gene: PRDM12 as ready
Paroxysmal central nervous system disorders v0.150 PRDM12 Rebecca Foulger Gene: prdm12 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.150 NTRK2 Rebecca Foulger Marked gene: NTRK2 as ready
Paroxysmal central nervous system disorders v0.150 NTRK2 Rebecca Foulger Gene: ntrk2 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.150 NTRK2 Rebecca Foulger Phenotypes for gene: NTRK2 were changed from Obesity, hyperphagia, and developmental delay, 613886 to Obesity, hyperphagia, and developmental delay, 613886; Epileptic encephalopathy, early infantile, 58, 617830
Paroxysmal central nervous system disorders v0.149 NTRK2 Rebecca Foulger Mode of inheritance for gene: NTRK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.148 NTRK1 Rebecca Foulger Marked gene: NTRK1 as ready
Paroxysmal central nervous system disorders v0.148 NTRK1 Rebecca Foulger Gene: ntrk1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.148 NAGLU Rebecca Foulger Marked gene: NAGLU as ready
Paroxysmal central nervous system disorders v0.148 NAGLU Rebecca Foulger Gene: naglu has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.148 MT-ATP8 Rebecca Foulger Marked gene: MT-ATP8 as ready
Paroxysmal central nervous system disorders v0.148 MT-ATP8 Rebecca Foulger Gene: mt-atp8 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.148 MT-ATP6 Rebecca Foulger Marked gene: MT-ATP6 as ready
Paroxysmal central nervous system disorders v0.148 MT-ATP6 Rebecca Foulger Gene: mt-atp6 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.148 MPV17 Rebecca Foulger Marked gene: MPV17 as ready
Paroxysmal central nervous system disorders v0.148 MPV17 Rebecca Foulger Gene: mpv17 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.148 KIF1A Rebecca Foulger Marked gene: KIF1A as ready
Paroxysmal central nervous system disorders v0.148 KIF1A Rebecca Foulger Gene: kif1a has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.148 KCNQ3 Rebecca Foulger Marked gene: KCNQ3 as ready
Paroxysmal central nervous system disorders v0.148 KCNQ3 Rebecca Foulger Gene: kcnq3 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.148 KCNJ5 Rebecca Foulger Marked gene: KCNJ5 as ready
Paroxysmal central nervous system disorders v0.148 KCNJ5 Rebecca Foulger Gene: kcnj5 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.148 KCNJ2 Rebecca Foulger Phenotypes for gene: KCNJ2 were changed from Andersen syndrome, 170390; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Hypokalemic Periodic Paralysis, Type 2 to Andersen syndrome, 170390; Andersen cardiodysrhythmic periodic paralysis; Episodic weakness; Periodic paralysis; Hypokalemic Periodic Paralysis, Type 2
Paroxysmal central nervous system disorders v0.147 KCNJ18 Rebecca Foulger Marked gene: KCNJ18 as ready
Paroxysmal central nervous system disorders v0.147 KCNJ18 Rebecca Foulger Gene: kcnj18 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.147 KCNJ18 Rebecca Foulger Phenotypes for gene: KCNJ18 were changed from Hypokalemic Periodic Paralysis, Type 1 to Thyrotoxic periodic paralysis, susceptibility to, 2, 613239; Hypokalemic Periodic Paralysis, Type 1
Paroxysmal central nervous system disorders v0.146 HTT Rebecca Foulger Marked gene: HTT as ready
Paroxysmal central nervous system disorders v0.146 HTT Rebecca Foulger Gene: htt has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.146 HTT Rebecca Foulger Phenotypes for gene: HTT were changed from Huntington disease to Huntington disease, 143100
Paroxysmal central nervous system disorders v0.145 HTT Rebecca Foulger Mode of inheritance for gene: HTT was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.144 HSPG2 Rebecca Foulger Marked gene: HSPG2 as ready
Paroxysmal central nervous system disorders v0.144 HSPG2 Rebecca Foulger Gene: hspg2 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.144 HSPG2 Rebecca Foulger Phenotypes for gene: HSPG2 were changed from Schwartz-Jampel syndrome, type 1, 255800 to Schwartz-Jampel syndrome, type 1, 255800; Dyssegmental dysplasia, Silverman-Handmaker type, 224410
Paroxysmal central nervous system disorders v0.143 HLA-DQB1 Rebecca Foulger Marked gene: HLA-DQB1 as ready
Paroxysmal central nervous system disorders v0.143 HLA-DQB1 Rebecca Foulger Gene: hla-dqb1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.143 HCRT Rebecca Foulger Marked gene: HCRT as ready
Paroxysmal central nervous system disorders v0.143 HCRT Rebecca Foulger Gene: hcrt has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.143 HCRT Rebecca Foulger Mode of inheritance for gene: HCRT was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.142 GLA Rebecca Foulger Marked gene: GLA as ready
Paroxysmal central nervous system disorders v0.142 GLA Rebecca Foulger Gene: gla has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.142 FAAHP1 Rebecca Foulger Marked gene: FAAHP1 as ready
Paroxysmal central nervous system disorders v0.142 FAAHP1 Rebecca Foulger Gene: faahp1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.142 EXT1 Rebecca Foulger Marked gene: EXT1 as ready
Paroxysmal central nervous system disorders v0.142 EXT1 Rebecca Foulger Gene: ext1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.142 EXT1 Rebecca Foulger Phenotypes for gene: EXT1 were changed from Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family) to Exostoses, multiple, type 1,133700; Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family)
Paroxysmal central nervous system disorders v0.141 ELP1 Rebecca Foulger Marked gene: ELP1 as ready
Paroxysmal central nervous system disorders v0.141 ELP1 Rebecca Foulger Gene: elp1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.141 ELP1 Rebecca Foulger Phenotypes for gene: ELP1 were changed from NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Familial dysautonomia; Dysautonomia, familial, 223900 to Neuropathy, Hereditary Sensory and Autonomic, Type III; Familial dysautonomia; Dysautonomia, familial, 223900
Paroxysmal central nervous system disorders v0.140 EIF3G Rebecca Foulger Marked gene: EIF3G as ready
Paroxysmal central nervous system disorders v0.140 EIF3G Rebecca Foulger Gene: eif3g has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.140 DMPK Rebecca Foulger Marked gene: DMPK as ready
Paroxysmal central nervous system disorders v0.140 DMPK Rebecca Foulger Gene: dmpk has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.140 CSTB Rebecca Foulger Marked gene: CSTB as ready
Paroxysmal central nervous system disorders v0.140 CSTB Rebecca Foulger Gene: cstb has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.140 CNBP Rebecca Foulger Marked gene: CNBP as ready
Paroxysmal central nervous system disorders v0.140 CNBP Rebecca Foulger Gene: cnbp has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.140 CLTCL1 Rebecca Foulger Marked gene: CLTCL1 as ready
Paroxysmal central nervous system disorders v0.140 CLTCL1 Rebecca Foulger Gene: cltcl1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.140 CLCN1 Rebecca Foulger Marked gene: CLCN1 as ready
Paroxysmal central nervous system disorders v0.140 CLCN1 Rebecca Foulger Gene: clcn1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.140 CCT5 Rebecca Foulger Marked gene: CCT5 as ready
Paroxysmal central nervous system disorders v0.140 CCT5 Rebecca Foulger Gene: cct5 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.140 CACNA1S Rebecca Foulger Marked gene: CACNA1S as ready
Paroxysmal central nervous system disorders v0.140 CACNA1S Rebecca Foulger Gene: cacna1s has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.140 ATP7B Rebecca Foulger Marked gene: ATP7B as ready
Paroxysmal central nervous system disorders v0.140 ATP7B Rebecca Foulger Gene: atp7b has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.140 ATP2A1 Rebecca Foulger Marked gene: ATP2A1 as ready
Paroxysmal central nervous system disorders v0.140 ATP2A1 Rebecca Foulger Gene: atp2a1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.140 ATN1 Rebecca Foulger Marked gene: ATN1 as ready
Paroxysmal central nervous system disorders v0.140 ATN1 Rebecca Foulger Gene: atn1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.140 ATN1 Rebecca Foulger Phenotypes for gene: ATN1 were changed from Dentatorubro-pallidoluysian atrophy to Dentatorubro-pallidoluysian atrophy, 125370
Paroxysmal central nervous system disorders v0.139 ATL3 Rebecca Foulger Marked gene: ATL3 as ready
Paroxysmal central nervous system disorders v0.139 ATL3 Rebecca Foulger Gene: atl3 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.139 ATL1 Rebecca Foulger Marked gene: ATL1 as ready
Paroxysmal central nervous system disorders v0.139 ATL1 Rebecca Foulger Gene: atl1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.139 ATL1 Rebecca Foulger Phenotypes for gene: ATL1 were changed from Hereditary spastic paraplegia, 182600; Neuropathy, hereditary sensory, type ID, 613708; HSN1D; Hereditary sensory neuropathy to Spastic paraplegia 3A, autosomal dominant, 182600; Neuropathy, hereditary sensory, type ID, 613708; HSN1D; Hereditary sensory neuropathy
Paroxysmal central nervous system disorders v0.138 AKR1C2 Rebecca Foulger Marked gene: AKR1C2 as ready
Paroxysmal central nervous system disorders v0.138 AKR1C2 Rebecca Foulger Gene: akr1c2 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.138 PDE2A Robyn Labrum changed review comment from: Only identified in one family with infantile?onset chorea?predominant movement disorder. Only sufficient evidence for amber.; to: Only identified in one family with infantile onset chorea predominant movement disorder. Only sufficient evidence for amber.
Paroxysmal central nervous system disorders v0.138 SCN8A Rebecca Foulger Phenotypes for gene: SCN8A were changed from epilepsy; paroxysmal kinesigenic dyskinesias to Epileptic encephalopathy, early infantile, 13, 614558; Seizures, benign familial infantile, 5, 617080; paroxysmal kinesigenic dyskinesias
Paroxysmal central nervous system disorders v0.137 SCN8A Rebecca Foulger Mode of inheritance for gene: SCN8A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.136 PDE2A Rebecca Foulger Marked gene: PDE2A as ready
Paroxysmal central nervous system disorders v0.136 PDE2A Rebecca Foulger Gene: pde2a has been classified as Amber List (Moderate Evidence).
Paroxysmal central nervous system disorders v0.136 MOG Rebecca Foulger Mode of inheritance for gene: MOG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.135 SLC6A5 Rebecca Foulger Marked gene: SLC6A5 as ready
Paroxysmal central nervous system disorders v0.135 SLC6A5 Rebecca Foulger Gene: slc6a5 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.135 SLC2A1 Rebecca Foulger Marked gene: SLC2A1 as ready
Paroxysmal central nervous system disorders v0.135 SLC2A1 Rebecca Foulger Gene: slc2a1 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.135 SLC2A1 Rebecca Foulger Phenotypes for gene: SLC2A1 were changed from EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 DEFICIENCY SYNDROME 1 to EPILEPSY, IDIOPATHIC GENERALIZED; Dystonia 9 (paroxysmal choreoathetosis with episodic ataxia), 601042; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 2, childhood onset, 612126; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777
Paroxysmal central nervous system disorders v0.134 SLC1A3 Rebecca Foulger Marked gene: SLC1A3 as ready
Paroxysmal central nervous system disorders v0.134 SLC1A3 Rebecca Foulger Gene: slc1a3 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.134 SLC1A3 Rebecca Foulger Phenotypes for gene: SLC1A3 were changed from Episodic ataxia, type 6, 612656; EPISODIC ATAXIA, TYPE 6 to Episodic ataxia, type 6, 612656
Paroxysmal central nervous system disorders v0.133 SLC1A3 Rebecca Foulger Phenotypes for gene: SLC1A3 were changed from Episodic ataxia, type 6, 612656; EPISODIC ATAXIA, TYPE 6; Episodic Ataxia to Episodic ataxia, type 6, 612656; EPISODIC ATAXIA, TYPE 6
Paroxysmal central nervous system disorders v0.132 SLC1A3 Rebecca Foulger Mode of inheritance for gene: SLC1A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.131 SCN1A Rebecca Foulger Marked gene: SCN1A as ready
Paroxysmal central nervous system disorders v0.131 SCN1A Rebecca Foulger Gene: scn1a has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.131 SCN1A Rebecca Foulger Phenotypes for gene: SCN1A were changed from Dravet syndrome; several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3 to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208; Epilepsy, generalized, with febrile seizures plus, type 2, 604403; Migraine, familial hemiplegic, 3, 609634; several epilepsy, convulsion and migraine disorders
Paroxysmal central nervous system disorders v0.130 SCN1A Rebecca Foulger Mode of inheritance for gene: SCN1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.129 PRRT2 Rebecca Foulger Marked gene: PRRT2 as ready
Paroxysmal central nervous system disorders v0.129 PRRT2 Rebecca Foulger Gene: prrt2 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.129 PRRT2 Rebecca Foulger Phenotypes for gene: PRRT2 were changed from SEIZURES, BENIGN FAMILIAL INFANTILE, 2; dystonia and occasionally hemiplegic migraine and epilepsy; episodic kinesigenic dyskinesia; EPISODIC KINESIGENIC DYSKINESIA 1; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS to Seizures, benign familial infantile, 2, 605751; dystonia and occasionally hemiplegic migraine and epilepsy; Episodic kinesigenic dyskinesia 1, 128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066
Paroxysmal central nervous system disorders v0.128 PRRT2 Rebecca Foulger Mode of inheritance for gene: PRRT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.127 PNKD Rebecca Foulger Marked gene: PNKD as ready
Paroxysmal central nervous system disorders v0.127 PNKD Rebecca Foulger Gene: pnkd has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.127 PNKD Rebecca Foulger Phenotypes for gene: PNKD were changed from PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 to Paroxysmal nonkinesigenic dyskinesia 1, 118800
Paroxysmal central nervous system disorders v0.126 PNKD Rebecca Foulger Mode of inheritance for gene: PNKD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.125 PDE10A Rebecca Foulger Marked gene: PDE10A as ready
Paroxysmal central nervous system disorders v0.125 PDE10A Rebecca Foulger Gene: pde10a has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.125 KCNMA1 Rebecca Foulger Marked gene: KCNMA1 as ready
Paroxysmal central nervous system disorders v0.125 KCNMA1 Rebecca Foulger Gene: kcnma1 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.125 KCNA1 Rebecca Foulger Marked gene: KCNA1 as ready
Paroxysmal central nervous system disorders v0.125 KCNA1 Rebecca Foulger Gene: kcna1 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.125 KCNA1 Rebecca Foulger Mode of inheritance for gene: KCNA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.124 GLRA1 Rebecca Foulger changed review comment from: Comment on list classification: Kept rating of GLRA1 as Green following Green recent reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.; to: Comment on list classification: Kept rating of GLRA1 as Green following Green updated reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.124 DNMT1 Rebecca Foulger Marked gene: DNMT1 as ready
Paroxysmal central nervous system disorders v0.124 DNMT1 Rebecca Foulger Gene: dnmt1 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.124 CSNK1D Rebecca Foulger Marked gene: CSNK1D as ready
Paroxysmal central nervous system disorders v0.124 CSNK1D Rebecca Foulger Gene: csnk1d has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.124 CSNK1D Rebecca Foulger changed review comment from: Comment on list classification: Demoted CSNK1D from Amber to Green based on Green reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.; to: Comment on list classification: Promoted CSNK1D from Amber to Green based on Green reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.124 CACNA1A Rebecca Foulger Marked gene: CACNA1A as ready
Paroxysmal central nervous system disorders v0.124 CACNA1A Rebecca Foulger Gene: cacna1a has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.124 ATP1A3 Rebecca Foulger Marked gene: ATP1A3 as ready
Paroxysmal central nervous system disorders v0.124 ATP1A3 Rebecca Foulger Gene: atp1a3 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.124 ATP1A3 Rebecca Foulger Phenotypes for gene: ATP1A3 were changed from DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820 to Dystonia-12, 128235; Alternating hemiplegia of childhood 2, 614820; CAPOS syndrome, 601338
Paroxysmal central nervous system disorders v0.123 ATP1A2 Rebecca Foulger Marked gene: ATP1A2 as ready
Paroxysmal central nervous system disorders v0.123 ATP1A2 Rebecca Foulger Gene: atp1a2 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.123 ADCY5 Rebecca Foulger Marked gene: ADCY5 as ready
Paroxysmal central nervous system disorders v0.123 ADCY5 Rebecca Foulger Gene: adcy5 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.123 PDE2A Rebecca Foulger changed review comment from: Comment on list classification: Demoted PDE2A from Green to Amber based on updated Amber recent reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH: insufficient evidence to support a gene:disease association at this time.; to: Comment on list classification: Demoted PDE2A from Green to Amber based on updated Amber reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH: insufficient evidence to support a gene:disease association at this time.
Paroxysmal central nervous system disorders v0.123 VAMP2 Rebecca Foulger Mode of inheritance for gene: VAMP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.122 VAMP2 Rebecca Foulger Phenotypes for gene: VAMP2 were changed from to axial hypotonia; intellectual disability; autistic features; central visual impairment; hyperkinetic movement disorder; epilepsy or electroencephalography abnormalities
Paroxysmal central nervous system disorders v0.121 VAMP2 Rebecca Foulger Publications for gene: VAMP2 were set to
Paroxysmal central nervous system disorders v0.120 KCNQ3 Rebecca Foulger changed review comment from: Comment on list classification: Demoted KCNQ3 from Amber to Red following Red re-reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.; to: Comment on list classification: Demoted KCNQ3 from Amber to Red following Red updated reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.120 KCNJ5 Rebecca Foulger changed review comment from: Comment on list classification: Demoted KCNJ5 from Amber to Red following Red re-reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.; to: Comment on list classification: Demoted KCNJ5 from Amber to Red following Red updated reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.120 SPR Rebecca Foulger changed review comment from: Comment on list classification: Demoted SPR from Amber to Red following Red re-reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.; to: Comment on list classification: Demoted SPR from Amber to Red following Red updated reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.120 SLC6A5 Rebecca Foulger changed review comment from: Comment on list classification: Kept rating of SLC6A5 as Green following Green re-reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.; to: Comment on list classification: Kept rating of SLC6A5 as Green following Green updated reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.120 GLRA1 Rebecca Foulger changed review comment from: Comment on list classification: Kept rating of GLRA1 as Green following Green reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.; to: Comment on list classification: Kept rating of GLRA1 as Green following Green recent reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.120 PDE2A Rebecca Foulger changed review comment from: Comment on list classification: Demoted PDE2A from Green to Amber based on updated Amber reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH: insufficient evidence to support a gene:disease association at this time.; to: Comment on list classification: Demoted PDE2A from Green to Amber based on updated Amber recent reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH: insufficient evidence to support a gene:disease association at this time.
Paroxysmal central nervous system disorders v0.120 FAAHP1 Rebecca Foulger Classified gene: FAAHP1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.120 FAAHP1 Rebecca Foulger Added comment: Comment on list classification: Kept rating of FAAHP1 as Red following Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.120 FAAHP1 Rebecca Foulger Gene: faahp1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.119 KCNQ3 Rebecca Foulger Classified gene: KCNQ3 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.119 KCNQ3 Rebecca Foulger Added comment: Comment on list classification: Demoted KCNQ3 from Amber to Red following Red re-reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.119 KCNQ3 Rebecca Foulger Gene: kcnq3 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.118 KCNJ5 Rebecca Foulger Phenotypes for gene: KCNJ5 were changed from to Hyperaldosteronism, familial, type III, 613677; Long QT syndrome 13, 613485
Paroxysmal central nervous system disorders v0.117 KCNJ5 Rebecca Foulger Mode of inheritance for gene: KCNJ5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.116 KCNJ5 Rebecca Foulger Classified gene: KCNJ5 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.116 KCNJ5 Rebecca Foulger Added comment: Comment on list classification: Demoted KCNJ5 from Amber to Red following Red re-reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.116 KCNJ5 Rebecca Foulger Gene: kcnj5 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.115 SPR Rebecca Foulger Classified gene: SPR as Red List (low evidence)
Paroxysmal central nervous system disorders v0.115 SPR Rebecca Foulger Added comment: Comment on list classification: Demoted SPR from Amber to Red following Red re-reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.115 SPR Rebecca Foulger Gene: spr has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.114 SLC6A5 Rebecca Foulger Classified gene: SLC6A5 as Green List (high evidence)
Paroxysmal central nervous system disorders v0.114 SLC6A5 Rebecca Foulger Added comment: Comment on list classification: Kept rating of SLC6A5 as Green following Green re-reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.114 SLC6A5 Rebecca Foulger Gene: slc6a5 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.113 KCNQ2 Rebecca Foulger Classified gene: KCNQ2 as Green List (high evidence)
Paroxysmal central nervous system disorders v0.113 KCNQ2 Rebecca Foulger Added comment: Comment on list classification: Kept rating of KCNQ2 as Green following Green updated reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.113 KCNQ2 Rebecca Foulger Gene: kcnq2 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.112 KCNQ2 Rebecca Foulger Mode of inheritance for gene: KCNQ2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.111 GLRB Rebecca Foulger Classified gene: GLRB as Green List (high evidence)
Paroxysmal central nervous system disorders v0.111 GLRB Rebecca Foulger Added comment: Comment on list classification: Kept rating of GLRB as Green following Green updated reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.111 GLRB Rebecca Foulger Gene: glrb has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.110 GLRA1 Rebecca Foulger Classified gene: GLRA1 as Green List (high evidence)
Paroxysmal central nervous system disorders v0.110 GLRA1 Rebecca Foulger Added comment: Comment on list classification: Kept rating of GLRA1 as Green following Green reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.110 GLRA1 Rebecca Foulger Gene: glra1 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.109 UBR4 Rebecca Foulger Classified gene: UBR4 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.109 UBR4 Rebecca Foulger Added comment: Comment on list classification: Kept rating of UBR4 as Red following Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.109 UBR4 Rebecca Foulger Gene: ubr4 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.108 KCNMA1 Rebecca Foulger Classified gene: KCNMA1 as Green List (high evidence)
Paroxysmal central nervous system disorders v0.108 KCNMA1 Rebecca Foulger Added comment: Comment on list classification: Kept rating of KCNMA1 as Green following Green reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.108 KCNMA1 Rebecca Foulger Gene: kcnma1 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.107 PDE2A Rebecca Foulger Classified gene: PDE2A as Amber List (moderate evidence)
Paroxysmal central nervous system disorders v0.107 PDE2A Rebecca Foulger Added comment: Comment on list classification: Demoted PDE2A from Green to Amber based on updated Amber reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH: insufficient evidence to support a gene:disease association at this time.
Paroxysmal central nervous system disorders v0.107 PDE2A Rebecca Foulger Gene: pde2a has been classified as Amber List (Moderate Evidence).
Paroxysmal central nervous system disorders v0.106 PDE2A Rebecca Foulger changed review comment from: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Amber.; to: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green/Amber- an Amber review was uploaded based on the associated comment suggesting limited evidence.
Paroxysmal central nervous system disorders v0.106 PDE2A Rebecca Foulger Phenotypes for gene: PDE2A were changed from to infantile‐onset chorea‐predominant movement disorder
Paroxysmal central nervous system disorders v0.105 PDE2A Rebecca Foulger Publications for gene: PDE2A were set to
Paroxysmal central nervous system disorders v0.104 PDE2A Rebecca Foulger Added comment: Comment on mode of inheritance: Set Mode of Inheritance as biallelic to match MOI suggestions from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.104 PDE2A Rebecca Foulger Mode of inheritance for gene: PDE2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.103 PDE10A Rebecca Foulger Classified gene: PDE10A as Green List (high evidence)
Paroxysmal central nervous system disorders v0.103 PDE10A Rebecca Foulger Added comment: Comment on list classification: Kept rating of PDE10A as Green following Green reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.103 PDE10A Rebecca Foulger Gene: pde10a has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.102 PDE10A Rebecca Foulger Phenotypes for gene: PDE10A were changed from to Dyskinesia, limb and orofacial, infantile-onset, 616921; Infantile-onset limb and orofacial dyskinesia
Paroxysmal central nervous system disorders v0.101 PDE10A Rebecca Foulger Added comment: Comment on mode of inheritance: Set Mode of Inheritance to BIALLELIC to match MOI suggestion from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.101 PDE10A Rebecca Foulger Mode of inheritance for gene: PDE10A was changed from to BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.100 TBP Rebecca Foulger Classified gene: TBP as Red List (low evidence)
Paroxysmal central nervous system disorders v0.100 TBP Rebecca Foulger Added comment: Comment on list classification: Kept rating of TBP as Red following Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.100 TBP Rebecca Foulger Gene: tbp has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.99 CSTB Rebecca Foulger Classified gene: CSTB as Red List (low evidence)
Paroxysmal central nervous system disorders v0.99 CSTB Rebecca Foulger Added comment: Comment on list classification: Kept rating of CSTB as Red following Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.99 CSTB Rebecca Foulger Gene: cstb has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.98 FAAHP1 Rebecca Foulger commented on gene: FAAHP1: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red.
Paroxysmal central nervous system disorders v0.98 KCNQ3 Rebecca Foulger commented on gene: KCNQ3: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red.
Paroxysmal central nervous system disorders v0.98 NKX2-1 Rebecca Foulger commented on gene: NKX2-1: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red.
Paroxysmal central nervous system disorders v0.98 KCNK18 Rebecca Foulger commented on gene: KCNK18: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red.
Paroxysmal central nervous system disorders v0.98 KCNJ5 Rebecca Foulger commented on gene: KCNJ5: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red.
Paroxysmal central nervous system disorders v0.98 SPR Rebecca Foulger commented on gene: SPR: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red.
Paroxysmal central nervous system disorders v0.98 SCN8A Rebecca Foulger commented on gene: SCN8A: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Amber.
Paroxysmal central nervous system disorders v0.98 MOG Rebecca Foulger commented on gene: MOG: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.
Paroxysmal central nervous system disorders v0.98 SLC6A5 Rebecca Foulger commented on gene: SLC6A5: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.
Paroxysmal central nervous system disorders v0.98 KCNQ2 Rebecca Foulger commented on gene: KCNQ2: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.
Paroxysmal central nervous system disorders v0.98 GLRB Rebecca Foulger commented on gene: GLRB: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.
Paroxysmal central nervous system disorders v0.98 GLRA1 Rebecca Foulger commented on gene: GLRA1: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.
Paroxysmal central nervous system disorders v0.98 ATAD1 Rebecca Foulger commented on gene: ATAD1: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. This rating is for a gene (ATAD1) previously added to the panel by West Midlands, Oxford and Wessex GLH. Suggested rating: Amber.
Paroxysmal central nervous system disorders v0.98 UBR4 Rebecca Foulger commented on gene: UBR4: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. This rating is for a gene (UBR4) previously added to the panel by West Midlands, Oxford and Wessex GLH. Suggested rating: Red.
Paroxysmal central nervous system disorders v0.98 KCNMA1 Rebecca Foulger commented on gene: KCNMA1: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. This rating is for a gene (KCNMA1) previously added to the panel by West Midlands, Oxford and Wessex GLH. Suggested rating: Green.
Paroxysmal central nervous system disorders v0.98 PDE2A Rebecca Foulger commented on gene: PDE2A: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Amber.
Paroxysmal central nervous system disorders v0.98 PDE10A Rebecca Foulger commented on gene: PDE10A: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.
Paroxysmal central nervous system disorders v0.98 VAMP2 Rebecca Foulger commented on gene: VAMP2: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.
Paroxysmal central nervous system disorders v0.98 TBP Rebecca Foulger commented on gene: TBP: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red.
Paroxysmal central nervous system disorders v0.98 CSTB Rebecca Foulger commented on gene: CSTB: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red.
Paroxysmal central nervous system disorders v0.97 FAAHP1 Robyn Labrum reviewed gene: FAAHP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.97 KCNQ3 Robyn Labrum reviewed gene: KCNQ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.97 NKX2-1 Robyn Labrum reviewed gene: NKX2-1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.97 KCNK18 Robyn Labrum reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.97 KCNJ5 Robyn Labrum reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.97 SPR Robyn Labrum reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.97 SCN8A Robyn Labrum reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.97 MOG Robyn Labrum reviewed gene: MOG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.97 SLC6A5 Robyn Labrum reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.97 KCNQ2 Robyn Labrum reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.97 GLRB Robyn Labrum reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.97 GLRA1 Robyn Labrum reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.97 ATAD1 Robyn Labrum reviewed gene: ATAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.97 UBR4 Robyn Labrum reviewed gene: UBR4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.97 KCNMA1 Robyn Labrum reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: paroxysmal nonkinesigenic dyskinesia-3 with or without generalized epilepsy; Mode of inheritance:
Paroxysmal central nervous system disorders v0.97 PDE2A Robyn Labrum reviewed gene: PDE2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: infantile?onset chorea?predominant movement disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.97 PDE10A Robyn Labrum reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Infantile-onset limb and orofacial dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.97 VAMP2 Robyn Labrum reviewed gene: VAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: axial hypotonia, intellectual disability, autistic features, central visual impairment, hyperkinetic movement disorder, epilepsy or electroencephalography abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.97 TBP Robyn Labrum reviewed gene: TBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.97 CSTB Robyn Labrum reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.96 FAAHP1 Rebecca Foulger reviewed gene: FAAHP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.96 KCNQ3 Rebecca Foulger commented on gene: KCNQ3: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red.
Paroxysmal central nervous system disorders v0.96 NKX2-1 Rebecca Foulger commented on gene: NKX2-1: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. A question mark was submitted for the rating, therefore I uploaded an Amber review from Penny Clouston.
Paroxysmal central nervous system disorders v0.96 KCNK18 Rebecca Foulger commented on gene: KCNK18: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Amber.
Paroxysmal central nervous system disorders v0.96 KCNJ5 Rebecca Foulger commented on gene: KCNJ5: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red.
Paroxysmal central nervous system disorders v0.96 SPR Rebecca Foulger commented on gene: SPR: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red.
Paroxysmal central nervous system disorders v0.96 SCN8A Rebecca Foulger commented on gene: SCN8A: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red.
Paroxysmal central nervous system disorders v0.96 MOG Rebecca Foulger commented on gene: MOG: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. A question mark was submitted for the rating because of a question over the level of evidence, therefore I uploaded an Amber review from Penny Clouston.
Paroxysmal central nervous system disorders v0.96 SLC6A5 Rebecca Foulger commented on gene: SLC6A5: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.
Paroxysmal central nervous system disorders v0.96 KCNQ2 Rebecca Foulger commented on gene: KCNQ2: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.
Paroxysmal central nervous system disorders v0.96 GLRB Rebecca Foulger commented on gene: GLRB: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.
Paroxysmal central nervous system disorders v0.96 GLRA1 Rebecca Foulger commented on gene: GLRA1: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.
Paroxysmal central nervous system disorders v0.96 CACNB4 Rebecca Foulger commented on gene: CACNB4: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. A question mark was submitted for the rating because of a question over the level of evidence, therefore I uploaded an Amber review from Penny Clouston.
Paroxysmal central nervous system disorders v0.96 ATAD1 Rebecca Foulger commented on gene: ATAD1: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.
Paroxysmal central nervous system disorders v0.96 UBR4 Rebecca Foulger commented on gene: UBR4: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red.
Paroxysmal central nervous system disorders v0.96 KCNMA1 Rebecca Foulger commented on gene: KCNMA1: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.
Paroxysmal central nervous system disorders v0.96 PDE2A Rebecca Foulger commented on gene: PDE2A: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. This rating is for a gene (PDE2A) previously added to the panel by London North GLH. Suggested rating: Amber.
Paroxysmal central nervous system disorders v0.96 PDE10A Rebecca Foulger commented on gene: PDE10A: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. This rating is for a gene (PDE10A) previously added to the panel by London North GLH. Suggested rating: Green.
Paroxysmal central nervous system disorders v0.96 VAMP2 Rebecca Foulger commented on gene: VAMP2: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. This rating is for a gene (VAMP2) previously added to the panel by London North GLH. A question mark was submitted for the rating because of a question over the relevance of the phenotype, therefore I uploaded an Amber review from Penny Clouston.
Paroxysmal central nervous system disorders v0.96 TBP Rebecca Foulger commented on gene: TBP: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. This rating is for a gene (TBP) previously previously added to the panel by London North GLH. Suggested rating: Red.
Paroxysmal central nervous system disorders v0.96 CSTB Rebecca Foulger commented on gene: CSTB: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. This rating is for a gene (CSTB) previously added to the panel by London North GLH. Suggested rating: Red.
Paroxysmal central nervous system disorders v0.95 FAAHP1 Penny Clouston reviewed gene: FAAHP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.95 KCNQ3 Penny Clouston reviewed gene: KCNQ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.95 NKX2-1 Penny Clouston reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.95 KCNK18 Penny Clouston reviewed gene: KCNK18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.95 KCNJ5 Penny Clouston reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.95 SPR Penny Clouston reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.95 SCN8A Penny Clouston reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.95 MOG Penny Clouston reviewed gene: MOG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.95 SLC6A5 Penny Clouston reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.95 KCNQ2 Penny Clouston reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.95 GLRB Penny Clouston reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.95 GLRA1 Penny Clouston reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.95 CACNB4 Penny Clouston reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.95 ATAD1 Penny Clouston reviewed gene: ATAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.95 UBR4 Penny Clouston reviewed gene: UBR4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.95 KCNMA1 Penny Clouston reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.95 PDE2A Penny Clouston reviewed gene: PDE2A: Rating: AMBER; Mode of pathogenicity: ; Publications: 29392776; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.95 PDE10A Penny Clouston reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskinesia, limb and orofacial, infantile-onset (OMIM 616921); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.95 VAMP2 Penny Clouston reviewed gene: VAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30929742; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.95 TBP Penny Clouston reviewed gene: TBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.95 CSTB Penny Clouston reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.94 TBP_CAG Rebecca Foulger edited their review of STR: TBP_CAG: Changed rating: RED
Paroxysmal central nervous system disorders v0.94 TBP_CAG Rebecca Foulger commented on STR: TBP_CAG
Paroxysmal central nervous system disorders v0.94 DMPK_CTG Rebecca Foulger reviewed STR: DMPK_CTG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Paroxysmal central nervous system disorders v0.94 CSTB_CCCCGCCCCGCG Rebecca Foulger reviewed STR: CSTB_CCCCGCCCCGCG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Paroxysmal central nervous system disorders v0.94 CACNA1A_CAG Rebecca Foulger reviewed STR: CACNA1A_CAG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Paroxysmal central nervous system disorders v0.94 ATN1_CAG Rebecca Foulger reviewed STR: ATN1_CAG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Paroxysmal central nervous system disorders v0.94 ISCA-37468-Loss Rebecca Foulger commented on Region: ISCA-37468-Loss: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of entities was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: ISCA-37468-Loss. Suggested rating: Red; Comments provided: None.
Paroxysmal central nervous system disorders v0.94 ISCA-37468-Loss Rebecca Foulger changed review comment from: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of entities was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red; Comments provided: phenotype severe and complicated, also episodes of sudden loss of muscle tone may occur. It may be better on another panel? Intellectual disability?.; to: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of entities was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: ISCA-37468-Loss. Suggested rating: Red; Comments provided: phenotype severe and complicated, also episodes of sudden loss of muscle tone may occur. It may be better on another panel? Intellectual disability?.
Paroxysmal central nervous system disorders v0.94 ISCA-37468-Loss Rebecca Foulger commented on Region: ISCA-37468-Loss: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of entities was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red; Comments provided: phenotype severe and complicated, also episodes of sudden loss of muscle tone may occur. It may be better on another panel? Intellectual disability?.
Paroxysmal central nervous system disorders v0.94 CACNB4 Rebecca Foulger commented on gene: CACNB4: PMID:10762541. Escayg et al., 2000 report a C104F missense mutation in affected members of a German family with epilepsy, and in a French Canadian family with episodic ataxia type 5 (MIM:613855). The French Canadian family had 5 affected individuals in 3 generations. The proband, after age 20 years, experienced recurrent episodes of vertigo and ataxia that lasted for several hours. The proband's mother had identical episodes of vertigo and ataxia after age 30 years.
Paroxysmal central nervous system disorders v0.94 CACNB4 Rebecca Foulger Phenotypes for gene: CACNB4 were changed from {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682; Episodic ataxia, type 5, 613855; Episodic Ataxia; EPISODIC ATAXIA, TYPE 5; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 to Episodic ataxia, type 5, 613855
Paroxysmal central nervous system disorders v0.93 CACNB4 Rebecca Foulger Publications for gene: CACNB4 were set to 10762541
Paroxysmal central nervous system disorders v0.92 KCNK18 Rebecca Foulger Phenotypes for gene: KCNK18 were changed from MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 to Migraine, with or without aura, susceptibility to, 13, 613656
Paroxysmal central nervous system disorders v0.91 KCNK18 Rebecca Foulger Mode of inheritance for gene: KCNK18 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.90 ISCA-37468-Loss Rebecca Foulger Triplosensitivity Score for ISCA-37468-Loss was changed from None to .
Source London North GLH was added to Region: ISCA-37468-Loss.
Paroxysmal central nervous system disorders v0.87 Rebecca Foulger Panel name changed from Paroxysmal neurological disorders, pain disorders and sleep disorders to Paroxysmal central nervous system disorders
List of related panels changed from to Paroxysmal neurological disorders; pain disorders and sleep disorders
Paroxysmal central nervous system disorders v0.86 SEPT9 Rebecca Foulger Classified gene: SEPT9 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.86 SEPT9 Rebecca Foulger Added comment: Comment on list classification: Demoted SEPT9 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.86 SEPT9 Rebecca Foulger Gene: sept9 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.85 NAGLU Rebecca Foulger Classified gene: NAGLU as Red List (low evidence)
Paroxysmal central nervous system disorders v0.85 NAGLU Rebecca Foulger Added comment: Comment on list classification: Demoted NAGLU from Amber to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.85 NAGLU Rebecca Foulger Gene: naglu has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.84 MPV17 Rebecca Foulger Classified gene: MPV17 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.84 MPV17 Rebecca Foulger Added comment: Comment on list classification: Demoted MPV17 from Amber to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.84 MPV17 Rebecca Foulger Gene: mpv17 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.83 CSNK1D Rebecca Foulger Classified gene: CSNK1D as Green List (high evidence)
Paroxysmal central nervous system disorders v0.83 CSNK1D Rebecca Foulger Added comment: Comment on list classification: Demoted CSNK1D from Amber to Green based on Green reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.83 CSNK1D Rebecca Foulger Gene: csnk1d has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.82 CSNK1D Rebecca Foulger Publications for gene: CSNK1D were set to 25660813; 23636092
Paroxysmal central nervous system disorders v0.81 CSNK1D Rebecca Foulger Mode of inheritance for gene: CSNK1D was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.80 WNK1 Rebecca Foulger Classified gene: WNK1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.80 WNK1 Rebecca Foulger Added comment: Comment on list classification: Demoted WNK1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.80 WNK1 Rebecca Foulger Gene: wnk1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.79 TTR Rebecca Foulger Classified gene: TTR as Red List (low evidence)
Paroxysmal central nervous system disorders v0.79 TTR Rebecca Foulger Added comment: Comment on list classification: Demoted TTR from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.79 TTR Rebecca Foulger Gene: ttr has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.78 TRPA1 Rebecca Foulger Classified gene: TRPA1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.78 TRPA1 Rebecca Foulger Added comment: Comment on list classification: Demoted TRPA1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.78 TRPA1 Rebecca Foulger Gene: trpa1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.77 TRPA1 Rebecca Foulger Phenotypes for gene: TRPA1 were changed from Episodic pain syndrome, familial, 615040; Familial episodic pain syndrome type I to ?Episodic pain syndrome, familial, 1, 615040; Familial episodic pain syndrome type I
Paroxysmal central nervous system disorders v0.76 SPTLC2 Rebecca Foulger Classified gene: SPTLC2 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.76 SPTLC2 Rebecca Foulger Added comment: Comment on list classification: Demoted SPTLC2 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.76 SPTLC2 Rebecca Foulger Gene: sptlc2 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.75 SPTLC1 Rebecca Foulger Classified gene: SPTLC1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.75 SPTLC1 Rebecca Foulger Added comment: Comment on list classification: Demoted SPTLC1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.75 SPTLC1 Rebecca Foulger Gene: sptlc1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.74 SPR Rebecca Foulger Phenotypes for gene: SPR were changed from Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716
Paroxysmal central nervous system disorders v0.73 SPR Rebecca Foulger Classified gene: SPR as Amber List (moderate evidence)
Paroxysmal central nervous system disorders v0.73 SPR Rebecca Foulger Added comment: Comment on list classification: Demoted rating of SPR from Green to Amber, awaiting further clinical review: currently one Red rating by London North GLH, and one Amber rating from West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.73 SPR Rebecca Foulger Gene: spr has been classified as Amber List (Moderate Evidence).
Paroxysmal central nervous system disorders v0.72 SCN9A Rebecca Foulger Classified gene: SCN9A as Red List (low evidence)
Paroxysmal central nervous system disorders v0.72 SCN9A Rebecca Foulger Added comment: Comment on list classification: Demoted SCN9A from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.72 SCN9A Rebecca Foulger Gene: scn9a has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.71 SCN8A Rebecca Foulger Classified gene: SCN8A as Amber List (moderate evidence)
Paroxysmal central nervous system disorders v0.71 SCN8A Rebecca Foulger Added comment: Comment on list classification: Demoted rating of SCN8A from Green to Amber, awaiting further clinical review: currently one Red rating by London North GLH, and one Amber rating from West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.71 SCN8A Rebecca Foulger Gene: scn8a has been classified as Amber List (Moderate Evidence).
Paroxysmal central nervous system disorders v0.70 SCN4A Rebecca Foulger Mode of inheritance for gene: SCN4A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.69 SCN4A Rebecca Foulger Classified gene: SCN4A as Red List (low evidence)
Paroxysmal central nervous system disorders v0.69 SCN4A Rebecca Foulger Added comment: Comment on list classification: Demoted SCN4A from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.69 SCN4A Rebecca Foulger Gene: scn4a has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.68 SCN11A Rebecca Foulger Classified gene: SCN11A as Red List (low evidence)
Paroxysmal central nervous system disorders v0.68 SCN11A Rebecca Foulger Added comment: Comment on list classification: Demoted SCN11A from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.68 SCN11A Rebecca Foulger Gene: scn11a has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.67 SCN10A Rebecca Foulger Classified gene: SCN10A as Red List (low evidence)
Paroxysmal central nervous system disorders v0.67 SCN10A Rebecca Foulger Added comment: Comment on list classification: Demoted SCN10A from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.67 SCN10A Rebecca Foulger Gene: scn10a has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.66 RYR1 Rebecca Foulger Phenotypes for gene: RYR1 were changed from to Central core disease of muscle, 117000
Paroxysmal central nervous system disorders v0.65 RYR1 Rebecca Foulger Classified gene: RYR1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.65 RYR1 Rebecca Foulger Added comment: Comment on list classification: Demoted RYR1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.65 RYR1 Rebecca Foulger Gene: ryr1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.64 RETREG1 Rebecca Foulger Classified gene: RETREG1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.64 RETREG1 Rebecca Foulger Added comment: Comment on list classification: Demoted RETREG1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.64 RETREG1 Rebecca Foulger Gene: retreg1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.63 RAB7A Rebecca Foulger Classified gene: RAB7A as Red List (low evidence)
Paroxysmal central nervous system disorders v0.63 RAB7A Rebecca Foulger Added comment: Comment on list classification: Demoted RAB7A from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.63 RAB7A Rebecca Foulger Gene: rab7a has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.62 PYGM Rebecca Foulger Classified gene: PYGM as Red List (low evidence)
Paroxysmal central nervous system disorders v0.62 PYGM Rebecca Foulger Added comment: Comment on list classification: Demoted PYGM from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.62 PYGM Rebecca Foulger Gene: pygm has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.61 KIF1A Rebecca Foulger Classified gene: KIF1A as Red List (low evidence)
Paroxysmal central nervous system disorders v0.61 KIF1A Rebecca Foulger Added comment: Comment on list classification: Demoted KIF1A from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.61 KIF1A Rebecca Foulger Gene: kif1a has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.60 KIF1A Rebecca Foulger Deleted their comment
Paroxysmal central nervous system disorders v0.60 PRNP Rebecca Foulger Classified gene: PRNP as Red List (low evidence)
Paroxysmal central nervous system disorders v0.60 PRNP Rebecca Foulger Added comment: Comment on list classification: Demoted PRNP from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.60 PRNP Rebecca Foulger Gene: prnp has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.59 PRNP Rebecca Foulger Phenotypes for gene: PRNP were changed from Cerebral amyloid angiopathy, PRNP-related to Cerebral amyloid angiopathy, PRNP-related, 137440
Paroxysmal central nervous system disorders v0.58 PRNP Rebecca Foulger Mode of inheritance for gene: PRNP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.57 PRDM12 Rebecca Foulger Classified gene: PRDM12 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.57 PRDM12 Rebecca Foulger Added comment: Comment on list classification: Demoted PRDM12 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.57 PRDM12 Rebecca Foulger Gene: prdm12 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.56 PRDM12 Rebecca Foulger Deleted their comment
Paroxysmal central nervous system disorders v0.56 PRDM12 Rebecca Foulger commented on gene: PRDM12: Demoted PRDM12 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.56 NTRK1 Rebecca Foulger Classified gene: NTRK1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.56 NTRK1 Rebecca Foulger Added comment: Comment on list classification: Demoted NTRK1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.56 NTRK1 Rebecca Foulger Gene: ntrk1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.55 NGF Rebecca Foulger Classified gene: NGF as Red List (low evidence)
Paroxysmal central nervous system disorders v0.55 NGF Rebecca Foulger Added comment: Comment on list classification: Demoted NGF from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.55 NGF Rebecca Foulger Gene: ngf has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.54 MT-ATP8 Rebecca Foulger Classified gene: MT-ATP8 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.54 MT-ATP8 Rebecca Foulger Added comment: Comment on list classification: Demoted MT-ATP8 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.54 MT-ATP8 Rebecca Foulger Gene: mt-atp8 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.53 MT-ATP6 Rebecca Foulger Phenotypes for gene: MT-ATP6 were changed from to Neuropathy, ataxia, and retinitis pigmentosa, 551500
Paroxysmal central nervous system disorders v0.52 MT-ATP6 Rebecca Foulger Classified gene: MT-ATP6 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.52 MT-ATP6 Rebecca Foulger Added comment: Comment on list classification: Demoted MT-ATP6 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.52 MT-ATP6 Rebecca Foulger Gene: mt-atp6 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.51 KIF1A Rebecca Foulger commented on gene: KIF1A: Demoted KIF1A from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.51 KCNQ3 Rebecca Foulger Classified gene: KCNQ3 as Amber List (moderate evidence)
Paroxysmal central nervous system disorders v0.51 KCNQ3 Rebecca Foulger Added comment: Comment on list classification: Demoted rating of KCNQ3 from Green to Amber, awaiting further clinical review: currently one Red rating by London North GLH, and one Amber rating from West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.51 KCNQ3 Rebecca Foulger Gene: kcnq3 has been classified as Amber List (Moderate Evidence).
Paroxysmal central nervous system disorders v0.50 KCNQ3 Rebecca Foulger Mode of inheritance for gene: KCNQ3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.49 KCNJ2 Rebecca Foulger Phenotypes for gene: KCNJ2 were changed from Andersen syndrome, 170390; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Andersen syndrome; Hypokalemic Periodic Paralysis, Type 2 to Andersen syndrome, 170390; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Hypokalemic Periodic Paralysis, Type 2
Paroxysmal central nervous system disorders v0.48 KCNJ2 Rebecca Foulger Phenotypes for gene: KCNJ2 were changed from ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Andersen syndrome; Hypokalemic Periodic Paralysis, Type 2 to Andersen syndrome, 170390; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Andersen syndrome; Hypokalemic Periodic Paralysis, Type 2
Paroxysmal central nervous system disorders v0.47 KCNJ2 Rebecca Foulger Mode of inheritance for gene: KCNJ2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.46 KCNJ2 Rebecca Foulger Classified gene: KCNJ2 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.46 KCNJ2 Rebecca Foulger Gene: kcnj2 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.45 KCNJ2 Rebecca Foulger commented on gene: KCNJ2: Demoted KCNJ2 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.45 GLA Rebecca Foulger Classified gene: GLA as Red List (low evidence)
Paroxysmal central nervous system disorders v0.45 GLA Rebecca Foulger Gene: gla has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.44 GLA Rebecca Foulger Phenotypes for gene: GLA were changed from Fabry disease, to Fabry disease, 301500
Paroxysmal central nervous system disorders v0.43 GLA Rebecca Foulger commented on gene: GLA: Demoted GLA from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.43 ELP1 Rebecca Foulger Classified gene: ELP1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.43 ELP1 Rebecca Foulger Added comment: Comment on list classification: Demoted ELP1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.43 ELP1 Rebecca Foulger Gene: elp1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.42 CACNB4 Rebecca Foulger Mode of inheritance for gene: CACNB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.41 CACNA1A Rebecca Foulger Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.40 ATP7B Rebecca Foulger Phenotypes for gene: ATP7B were changed from Wilson disease 277900 to Wilson disease, 277900
Paroxysmal central nervous system disorders v0.39 ATP2A1 Rebecca Foulger Phenotypes for gene: ATP2A1 were changed from Brody myopathy 601003 to Brody myopathy, 601003
Paroxysmal central nervous system disorders v0.38 ATP2A1 Rebecca Foulger Publications for gene: ATP2A1 were set to 9367679; 884119; 8841193
Paroxysmal central nervous system disorders v0.37 ATP1A3 Rebecca Foulger Mode of inheritance for gene: ATP1A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.36 ATP1A2 Rebecca Foulger Mode of inheritance for gene: ATP1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.35 ADCY5 Rebecca Foulger Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.34 CLCN1 Rebecca Foulger Classified gene: CLCN1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.34 CLCN1 Rebecca Foulger Added comment: Comment on list classification: Demoted CLCN1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.34 CLCN1 Rebecca Foulger Gene: clcn1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.33 CACNA1S Rebecca Foulger Classified gene: CACNA1S as Red List (low evidence)
Paroxysmal central nervous system disorders v0.33 CACNA1S Rebecca Foulger Added comment: Comment on list classification: Demoted CACNA1S from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.33 CACNA1S Rebecca Foulger Gene: cacna1s has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.32 ATP7B Rebecca Foulger Classified gene: ATP7B as Red List (low evidence)
Paroxysmal central nervous system disorders v0.32 ATP7B Rebecca Foulger Gene: atp7b has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.31 ATP7B Rebecca Foulger commented on gene: ATP7B: Demoted ATP7B from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.31 ATP2A1 Rebecca Foulger Classified gene: ATP2A1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.31 ATP2A1 Rebecca Foulger Added comment: Comment on list classification: Demoted ATP2A1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.31 ATP2A1 Rebecca Foulger Gene: atp2a1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.30 ATL3 Rebecca Foulger Classified gene: ATL3 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.30 ATL3 Rebecca Foulger Added comment: Comment on list classification: Demoted ATL3 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.30 ATL3 Rebecca Foulger Gene: atl3 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.29 ATL1 Rebecca Foulger Classified gene: ATL1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.29 ATL1 Rebecca Foulger Added comment: Comment on list classification: Demoted ATL1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.29 ATL1 Rebecca Foulger Gene: atl1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.28 ISCA-37468-Loss Rebecca Foulger changed review comment from: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Symbol submitted: ISCA-37468-Loss; Suggested initial gene rating: Red; Evidence: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.; to: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London), collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Symbol submitted: ISCA-37468-Loss; Suggested initial gene rating: Red; Evidence: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Paroxysmal central nervous system disorders v0.28 ISCA-37468-Loss Rebecca Foulger Triplosensitivity Score for ISCA-37468-Loss was changed from to None.
Source London North GLH was removed from Region: ISCA-37468-Loss.
Source NHS GMS was added to Region: ISCA-37468-Loss.
Model of inheritance for Region: ISCA-37468-Loss was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Paroxysmal central nervous system disorders v0.27 ISCA-37468-Loss Rebecca Foulger reviewed Region: ISCA-37468-Loss: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Paroxysmal central nervous system disorders v0.27 TBP Rebecca Foulger Source NHS GMS was added to TBP.
Paroxysmal central nervous system disorders v0.27 CSTB Rebecca Foulger Source NHS GMS was added to CSTB.
Paroxysmal central nervous system disorders v0.27 VAMP2 Rebecca Foulger Source NHS GMS was added to VAMP2.
Paroxysmal central nervous system disorders v0.27 PDE2A Rebecca Foulger Source NHS GMS was added to PDE2A.
Paroxysmal central nervous system disorders v0.27 PDE10A Rebecca Foulger Source NHS GMS was added to PDE10A.
Paroxysmal central nervous system disorders v0.27 WNK1 Rebecca Foulger Source NHS GMS was added to WNK1.
Paroxysmal central nervous system disorders v0.27 UBR4 Rebecca Foulger Source NHS GMS was added to UBR4.
Paroxysmal central nervous system disorders v0.27 TTR Rebecca Foulger Source NHS GMS was added to TTR.
Paroxysmal central nervous system disorders v0.27 TRPV4 Rebecca Foulger Source NHS GMS was added to TRPV4.
Paroxysmal central nervous system disorders v0.27 TRPA1 Rebecca Foulger Source NHS GMS was added to TRPA1.
Paroxysmal central nervous system disorders v0.27 SPTLC2 Rebecca Foulger Source NHS GMS was added to SPTLC2.
Paroxysmal central nervous system disorders v0.27 SPTLC1 Rebecca Foulger Source NHS GMS was added to SPTLC1.
Paroxysmal central nervous system disorders v0.27 SLC6A4 Rebecca Foulger Source NHS GMS was added to SLC6A4.
Paroxysmal central nervous system disorders v0.27 SEPT9 Rebecca Foulger Source NHS GMS was added to SEPT9.
Paroxysmal central nervous system disorders v0.27 SCN9A Rebecca Foulger Source NHS GMS was added to SCN9A.
Paroxysmal central nervous system disorders v0.27 SCN4A Rebecca Foulger Source NHS GMS was added to SCN4A.
Paroxysmal central nervous system disorders v0.27 SCN11A Rebecca Foulger Source NHS GMS was added to SCN11A.
Paroxysmal central nervous system disorders v0.27 SCN10A Rebecca Foulger Source NHS GMS was added to SCN10A.
Paroxysmal central nervous system disorders v0.27 RYR1 Rebecca Foulger Source NHS GMS was added to RYR1.
Paroxysmal central nervous system disorders v0.27 RETREG1 Rebecca Foulger Source NHS GMS was added to RETREG1.
Paroxysmal central nervous system disorders v0.27 RAB7A Rebecca Foulger Source NHS GMS was added to RAB7A.
Paroxysmal central nervous system disorders v0.27 PYGM Rebecca Foulger Source NHS GMS was added to PYGM.
Paroxysmal central nervous system disorders v0.27 PRNP Rebecca Foulger Source NHS GMS was added to PRNP.
Paroxysmal central nervous system disorders v0.27 PRDM12 Rebecca Foulger Source NHS GMS was added to PRDM12.
Paroxysmal central nervous system disorders v0.27 PER2 Rebecca Foulger Source NHS GMS was added to PER2.
Paroxysmal central nervous system disorders v0.27 NTRK2 Rebecca Foulger Source NHS GMS was added to NTRK2.
Paroxysmal central nervous system disorders v0.27 NTRK1 Rebecca Foulger Source NHS GMS was added to NTRK1.
Paroxysmal central nervous system disorders v0.27 NGF Rebecca Foulger Source NHS GMS was added to NGF.
Paroxysmal central nervous system disorders v0.27 NAGLU Rebecca Foulger Source NHS GMS was added to NAGLU.
Paroxysmal central nervous system disorders v0.27 MT-ATP8 Rebecca Foulger Source NHS GMS was added to MT-ATP8.
Paroxysmal central nervous system disorders v0.27 MT-ATP6 Rebecca Foulger Source NHS GMS was added to MT-ATP6.
Paroxysmal central nervous system disorders v0.27 MPV17 Rebecca Foulger Source NHS GMS was added to MPV17.
Paroxysmal central nervous system disorders v0.27 KIF1A Rebecca Foulger Source NHS GMS was added to KIF1A.
Paroxysmal central nervous system disorders v0.27 KCNJ2 Rebecca Foulger Source NHS GMS was added to KCNJ2.
Paroxysmal central nervous system disorders v0.27 KCNJ18 Rebecca Foulger Source NHS GMS was added to KCNJ18.
Paroxysmal central nervous system disorders v0.27 HTT Rebecca Foulger Source NHS GMS was added to HTT.
Paroxysmal central nervous system disorders v0.27 HSPG2 Rebecca Foulger Source NHS GMS was added to HSPG2.
Paroxysmal central nervous system disorders v0.27 HLA-DQB1 Rebecca Foulger Source NHS GMS was added to HLA-DQB1.
Paroxysmal central nervous system disorders v0.27 HCRT Rebecca Foulger Source NHS GMS was added to HCRT.
Paroxysmal central nervous system disorders v0.27 GLA Rebecca Foulger Source NHS GMS was added to GLA.
Paroxysmal central nervous system disorders v0.27 EXT1 Rebecca Foulger Source NHS GMS was added to EXT1.
Paroxysmal central nervous system disorders v0.27 ELP1 Rebecca Foulger Source NHS GMS was added to ELP1.
Paroxysmal central nervous system disorders v0.27 EIF3G Rebecca Foulger Source NHS GMS was added to EIF3G.
Paroxysmal central nervous system disorders v0.27 DMPK Rebecca Foulger Source NHS GMS was added to DMPK.
Paroxysmal central nervous system disorders v0.27 CNBP Rebecca Foulger Source NHS GMS was added to CNBP.
Paroxysmal central nervous system disorders v0.27 CLTCL1 Rebecca Foulger Source NHS GMS was added to CLTCL1.
Paroxysmal central nervous system disorders v0.27 CLCN1 Rebecca Foulger Source NHS GMS was added to CLCN1.
Paroxysmal central nervous system disorders v0.27 CCT5 Rebecca Foulger Source NHS GMS was added to CCT5.
Paroxysmal central nervous system disorders v0.27 CACNA1S Rebecca Foulger Source NHS GMS was added to CACNA1S.
Paroxysmal central nervous system disorders v0.27 ATP7B Rebecca Foulger Source NHS GMS was added to ATP7B.
Paroxysmal central nervous system disorders v0.27 ATP2A1 Rebecca Foulger Source NHS GMS was added to ATP2A1.
Paroxysmal central nervous system disorders v0.27 ATN1 Rebecca Foulger Source NHS GMS was added to ATN1.
Paroxysmal central nervous system disorders v0.27 ATL3 Rebecca Foulger Source NHS GMS was added to ATL3.
Paroxysmal central nervous system disorders v0.27 ATL1 Rebecca Foulger Source NHS GMS was added to ATL1.
Paroxysmal central nervous system disorders v0.27 AKR1C2 Rebecca Foulger Source NHS GMS was added to AKR1C2.
Paroxysmal central nervous system disorders v0.27 SPR Rebecca Foulger Source NHS GMS was added to SPR.
Paroxysmal central nervous system disorders v0.27 SLC6A5 Rebecca Foulger Source NHS GMS was added to SLC6A5.
Paroxysmal central nervous system disorders v0.27 SCN8A Rebecca Foulger Source NHS GMS was added to SCN8A.
Paroxysmal central nervous system disorders v0.27 NKX2-1 Rebecca Foulger Source NHS GMS was added to NKX2-1.
Paroxysmal central nervous system disorders v0.27 MOG Rebecca Foulger Source NHS GMS was added to MOG.
Paroxysmal central nervous system disorders v0.27 KCNQ3 Rebecca Foulger Source NHS GMS was added to KCNQ3.
Paroxysmal central nervous system disorders v0.27 KCNQ2 Rebecca Foulger Source NHS GMS was added to KCNQ2.
Paroxysmal central nervous system disorders v0.27 KCNK18 Rebecca Foulger Source NHS GMS was added to KCNK18.
Paroxysmal central nervous system disorders v0.27 KCNJ5 Rebecca Foulger Source NHS GMS was added to KCNJ5.
Paroxysmal central nervous system disorders v0.27 GLRB Rebecca Foulger Source NHS GMS was added to GLRB.
Paroxysmal central nervous system disorders v0.27 GLRA1 Rebecca Foulger Source NHS GMS was added to GLRA1.
Paroxysmal central nervous system disorders v0.27 CACNB4 Rebecca Foulger Source NHS GMS was added to CACNB4.
Paroxysmal central nervous system disorders v0.27 ATAD1 Rebecca Foulger Source NHS GMS was added to ATAD1.
Paroxysmal central nervous system disorders v0.27 SLC2A1 Rebecca Foulger Source NHS GMS was added to SLC2A1.
Paroxysmal central nervous system disorders v0.27 SLC1A3 Rebecca Foulger Source NHS GMS was added to SLC1A3.
Paroxysmal central nervous system disorders v0.27 SCN1A Rebecca Foulger Source NHS GMS was added to SCN1A.
Paroxysmal central nervous system disorders v0.27 PRRT2 Rebecca Foulger Source NHS GMS was added to PRRT2.
Paroxysmal central nervous system disorders v0.27 PNKD Rebecca Foulger Source NHS GMS was added to PNKD.
Paroxysmal central nervous system disorders v0.27 KCNMA1 Rebecca Foulger Source NHS GMS was added to KCNMA1.
Paroxysmal central nervous system disorders v0.27 KCNA1 Rebecca Foulger Source NHS GMS was added to KCNA1.
Paroxysmal central nervous system disorders v0.27 DNMT1 Rebecca Foulger Source NHS GMS was added to DNMT1.
Paroxysmal central nervous system disorders v0.27 CSNK1D Rebecca Foulger Source NHS GMS was added to CSNK1D.
Paroxysmal central nervous system disorders v0.27 CACNA1A Rebecca Foulger Source NHS GMS was added to CACNA1A.
Paroxysmal central nervous system disorders v0.27 ATP1A3 Rebecca Foulger Source NHS GMS was added to ATP1A3.
Paroxysmal central nervous system disorders v0.27 ATP1A2 Rebecca Foulger Source NHS GMS was added to ATP1A2.
Paroxysmal central nervous system disorders v0.27 ADCY5 Rebecca Foulger Source NHS GMS was added to ADCY5.
Paroxysmal central nervous system disorders v0.26 WNK1 Rebecca Foulger commented on gene: WNK1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 TTR Rebecca Foulger commented on gene: TTR: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 TRPV4 Rebecca Foulger commented on gene: TRPV4: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 TRPA1 Rebecca Foulger commented on gene: TRPA1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 TBP Rebecca Foulger reviewed gene: TBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.26 SPTLC2 Rebecca Foulger commented on gene: SPTLC2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SPTLC1 Rebecca Foulger commented on gene: SPTLC1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SPR Rebecca Foulger commented on gene: SPR: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SLC6A4 Rebecca Foulger commented on gene: SLC6A4: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SEPT9 Rebecca Foulger commented on gene: SEPT9: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SCN9A Rebecca Foulger commented on gene: SCN9A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SCN8A Rebecca Foulger commented on gene: SCN8A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SCN4A Rebecca Foulger commented on gene: SCN4A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SCN11A Rebecca Foulger commented on gene: SCN11A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SCN10A Rebecca Foulger commented on gene: SCN10A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 RYR1 Rebecca Foulger commented on gene: RYR1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 RETREG1 Rebecca Foulger commented on gene: RETREG1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 RAB7A Rebecca Foulger commented on gene: RAB7A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PYGM Rebecca Foulger commented on gene: PYGM: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PRNP Rebecca Foulger commented on gene: PRNP: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PRDM12 Rebecca Foulger commented on gene: PRDM12: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PER2 Rebecca Foulger commented on gene: PER2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 NTRK2 Rebecca Foulger commented on gene: NTRK2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 NTRK1 Rebecca Foulger commented on gene: NTRK1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 NKX2-1 Rebecca Foulger commented on gene: NKX2-1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 NGF Rebecca Foulger commented on gene: NGF: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 NAGLU Rebecca Foulger commented on gene: NAGLU: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 MT-ATP8 Rebecca Foulger commented on gene: MT-ATP8: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 MT-ATP6 Rebecca Foulger commented on gene: MT-ATP6: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 MPV17 Rebecca Foulger commented on gene: MPV17: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KIF1A Rebecca Foulger commented on gene: KIF1A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNQ3 Rebecca Foulger commented on gene: KCNQ3: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNK18 Rebecca Foulger commented on gene: KCNK18: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNJ5 Rebecca Foulger commented on gene: KCNJ5: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNJ2 Rebecca Foulger commented on gene: KCNJ2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNJ18 Rebecca Foulger commented on gene: KCNJ18: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 HTT Rebecca Foulger commented on gene: HTT: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 HSPG2 Rebecca Foulger commented on gene: HSPG2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 HLA-DQB1 Rebecca Foulger commented on gene: HLA-DQB1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 HCRT Rebecca Foulger commented on gene: HCRT: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 GLA Rebecca Foulger commented on gene: GLA: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 EXT1 Rebecca Foulger commented on gene: EXT1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ELP1 Rebecca Foulger commented on gene: ELP1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 EIF3G Rebecca Foulger commented on gene: EIF3G: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 DMPK Rebecca Foulger commented on gene: DMPK: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CSTB Rebecca Foulger reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.26 CNBP Rebecca Foulger commented on gene: CNBP: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CLTCL1 Rebecca Foulger commented on gene: CLTCL1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CLCN1 Rebecca Foulger commented on gene: CLCN1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CCT5 Rebecca Foulger commented on gene: CCT5: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CACNA1S Rebecca Foulger commented on gene: CACNA1S: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATP7B Rebecca Foulger commented on gene: ATP7B: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATP2A1 Rebecca Foulger commented on gene: ATP2A1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATN1 Rebecca Foulger commented on gene: ATN1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATL3 Rebecca Foulger commented on gene: ATL3: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATL1 Rebecca Foulger commented on gene: ATL1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 AKR1C2 Rebecca Foulger commented on gene: AKR1C2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 VAMP2 Rebecca Foulger reviewed gene: VAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.26 SLC6A5 Rebecca Foulger commented on gene: SLC6A5: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SLC2A1 Rebecca Foulger commented on gene: SLC2A1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SLC1A3 Rebecca Foulger commented on gene: SLC1A3: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SCN1A Rebecca Foulger commented on gene: SCN1A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PRRT2 Rebecca Foulger commented on gene: PRRT2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PNKD Rebecca Foulger commented on gene: PNKD: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PDE2A Rebecca Foulger reviewed gene: PDE2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.26 PDE10A Rebecca Foulger reviewed gene: PDE10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.26 MOG Rebecca Foulger commented on gene: MOG: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNQ2 Rebecca Foulger commented on gene: KCNQ2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNA1 Rebecca Foulger commented on gene: KCNA1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 GLRB Rebecca Foulger commented on gene: GLRB: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 GLRA1 Rebecca Foulger commented on gene: GLRA1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 DNMT1 Rebecca Foulger commented on gene: DNMT1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CSNK1D Rebecca Foulger commented on gene: CSNK1D: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CACNB4 Rebecca Foulger commented on gene: CACNB4: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CACNA1A Rebecca Foulger commented on gene: CACNA1A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATP1A2 Rebecca Foulger commented on gene: ATP1A2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ADCY5 Rebecca Foulger commented on gene: ADCY5: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.25 WNK1 James Polke reviewed gene: WNK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 TTR James Polke reviewed gene: TTR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 TRPV4 James Polke reviewed gene: TRPV4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 TRPA1 James Polke reviewed gene: TRPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 TBP James Polke reviewed gene: TBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SPTLC2 James Polke reviewed gene: SPTLC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SPTLC1 James Polke reviewed gene: SPTLC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SPR James Polke reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SLC6A4 James Polke reviewed gene: SLC6A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SEPT9 James Polke reviewed gene: SEPT9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SCN9A James Polke reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SCN8A James Polke reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SCN4A James Polke reviewed gene: SCN4A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SCN11A James Polke reviewed gene: SCN11A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SCN10A James Polke reviewed gene: SCN10A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 RYR1 James Polke reviewed gene: RYR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 RETREG1 James Polke reviewed gene: RETREG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 RAB7A James Polke reviewed gene: RAB7A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PYGM James Polke reviewed gene: PYGM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PRNP James Polke reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PRDM12 James Polke reviewed gene: PRDM12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PER2 James Polke reviewed gene: PER2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 NTRK2 James Polke reviewed gene: NTRK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 NTRK1 James Polke reviewed gene: NTRK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 NKX2-1 James Polke reviewed gene: NKX2-1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 NGF James Polke reviewed gene: NGF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 NAGLU James Polke reviewed gene: NAGLU: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 MT-ATP8 James Polke reviewed gene: MT-ATP8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 MT-ATP6 James Polke reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 MPV17 James Polke reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KIF1A James Polke reviewed gene: KIF1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNQ3 James Polke reviewed gene: KCNQ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNK18 James Polke reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNJ5 James Polke reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNJ2 James Polke reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNJ18 James Polke reviewed gene: KCNJ18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 HTT James Polke reviewed gene: HTT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 HSPG2 James Polke reviewed gene: HSPG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 HLA-DQB1 James Polke reviewed gene: HLA-DQB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 HCRT James Polke reviewed gene: HCRT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 GLA James Polke reviewed gene: GLA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 EXT1 James Polke reviewed gene: EXT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ELP1 James Polke reviewed gene: ELP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 EIF3G James Polke reviewed gene: EIF3G: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 DMPK James Polke reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CSTB James Polke reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CNBP James Polke reviewed gene: CNBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CLTCL1 James Polke reviewed gene: CLTCL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CLCN1 James Polke reviewed gene: CLCN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CCT5 James Polke reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CACNA1S James Polke reviewed gene: CACNA1S: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATP7B James Polke reviewed gene: ATP7B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATP2A1 James Polke reviewed gene: ATP2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATN1 James Polke reviewed gene: ATN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATL3 James Polke reviewed gene: ATL3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATL1 James Polke reviewed gene: ATL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 AKR1C2 James Polke reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 VAMP2 James Polke reviewed gene: VAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SLC6A5 James Polke reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SLC2A1 James Polke reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SLC1A3 James Polke reviewed gene: SLC1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SCN1A James Polke reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PRRT2 James Polke reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PNKD James Polke reviewed gene: PNKD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PDE2A James Polke reviewed gene: PDE2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PDE10A James Polke reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 MOG James Polke reviewed gene: MOG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNQ2 James Polke reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNA1 James Polke reviewed gene: KCNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 GLRB James Polke reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 GLRA1 James Polke reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 DNMT1 James Polke reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CSNK1D James Polke reviewed gene: CSNK1D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CACNB4 James Polke reviewed gene: CACNB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CACNA1A James Polke reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATP1A3 James Polke reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATP1A2 James Polke reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ADCY5 James Polke reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.24 WNK1 Rebecca Foulger Source London North GLH was added to WNK1.
Paroxysmal central nervous system disorders v0.24 TTR Rebecca Foulger Source London North GLH was added to TTR.
Paroxysmal central nervous system disorders v0.24 TRPV4 Rebecca Foulger Source London North GLH was added to TRPV4.
Paroxysmal central nervous system disorders v0.24 TRPA1 Rebecca Foulger Source London North GLH was added to TRPA1.
Paroxysmal central nervous system disorders v0.24 TBP Rebecca Foulger gene: TBP was added
gene: TBP was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red,London North GLH
Mode of inheritance for gene: TBP was set to
Paroxysmal central nervous system disorders v0.24 SPTLC2 Rebecca Foulger Source London North GLH was added to SPTLC2.
Paroxysmal central nervous system disorders v0.24 SPTLC1 Rebecca Foulger Source London North GLH was added to SPTLC1.
Paroxysmal central nervous system disorders v0.24 SPR Rebecca Foulger Source London North GLH was added to SPR.
Paroxysmal central nervous system disorders v0.24 SLC6A4 Rebecca Foulger Source London North GLH was added to SLC6A4.
Paroxysmal central nervous system disorders v0.24 SEPT9 Rebecca Foulger Source London North GLH was added to SEPT9.
Paroxysmal central nervous system disorders v0.24 SCN9A Rebecca Foulger Source London North GLH was added to SCN9A.
Paroxysmal central nervous system disorders v0.24 SCN8A Rebecca Foulger Source London North GLH was added to SCN8A.
Paroxysmal central nervous system disorders v0.24 SCN4A Rebecca Foulger Source London North GLH was added to SCN4A.
Paroxysmal central nervous system disorders v0.24 SCN11A Rebecca Foulger Source London North GLH was added to SCN11A.
Paroxysmal central nervous system disorders v0.24 SCN10A Rebecca Foulger Source London North GLH was added to SCN10A.
Paroxysmal central nervous system disorders v0.24 RYR1 Rebecca Foulger Source London North GLH was added to RYR1.
Paroxysmal central nervous system disorders v0.24 RETREG1 Rebecca Foulger Source London North GLH was added to RETREG1.
Paroxysmal central nervous system disorders v0.24 RAB7A Rebecca Foulger Source London North GLH was added to RAB7A.
Paroxysmal central nervous system disorders v0.24 PYGM Rebecca Foulger Source London North GLH was added to PYGM.
Paroxysmal central nervous system disorders v0.24 PRNP Rebecca Foulger Source London North GLH was added to PRNP.
Paroxysmal central nervous system disorders v0.24 PRDM12 Rebecca Foulger Source London North GLH was added to PRDM12.
Paroxysmal central nervous system disorders v0.24 PER2 Rebecca Foulger Source London North GLH was added to PER2.
Paroxysmal central nervous system disorders v0.24 NTRK2 Rebecca Foulger Source London North GLH was added to NTRK2.
Paroxysmal central nervous system disorders v0.24 NTRK1 Rebecca Foulger Source London North GLH was added to NTRK1.
Paroxysmal central nervous system disorders v0.24 NKX2-1 Rebecca Foulger Source London North GLH was added to NKX2-1.
Paroxysmal central nervous system disorders v0.24 NGF Rebecca Foulger Source London North GLH was added to NGF.
Paroxysmal central nervous system disorders v0.24 NAGLU Rebecca Foulger Source London North GLH was added to NAGLU.
Paroxysmal central nervous system disorders v0.24 MT-ATP8 Rebecca Foulger Source London North GLH was added to MT-ATP8.
Paroxysmal central nervous system disorders v0.24 MT-ATP6 Rebecca Foulger Source London North GLH was added to MT-ATP6.
Paroxysmal central nervous system disorders v0.24 MPV17 Rebecca Foulger Source London North GLH was added to MPV17.
Paroxysmal central nervous system disorders v0.24 KIF1A Rebecca Foulger Source London North GLH was added to KIF1A.
Paroxysmal central nervous system disorders v0.24 KCNQ3 Rebecca Foulger Source London North GLH was added to KCNQ3.
Paroxysmal central nervous system disorders v0.24 KCNK18 Rebecca Foulger Source London North GLH was added to KCNK18.
Paroxysmal central nervous system disorders v0.24 KCNJ5 Rebecca Foulger Source London North GLH was added to KCNJ5.
Paroxysmal central nervous system disorders v0.24 KCNJ2 Rebecca Foulger Source London North GLH was added to KCNJ2.
Paroxysmal central nervous system disorders v0.24 KCNJ18 Rebecca Foulger Source London North GLH was added to KCNJ18.
Paroxysmal central nervous system disorders v0.24 ISCA-37468-Loss Rebecca Foulger Source London North GLH was added to Region: ISCA-37468-Loss.
Paroxysmal central nervous system disorders v0.24 HTT Rebecca Foulger Source London North GLH was added to HTT.
Paroxysmal central nervous system disorders v0.24 HSPG2 Rebecca Foulger Source London North GLH was added to HSPG2.
Paroxysmal central nervous system disorders v0.24 HLA-DQB1 Rebecca Foulger Source London North GLH was added to HLA-DQB1.
Paroxysmal central nervous system disorders v0.24 HCRT Rebecca Foulger Source London North GLH was added to HCRT.
Paroxysmal central nervous system disorders v0.24 GLA Rebecca Foulger Source London North GLH was added to GLA.
Paroxysmal central nervous system disorders v0.24 EXT1 Rebecca Foulger Source London North GLH was added to EXT1.
Paroxysmal central nervous system disorders v0.24 ELP1 Rebecca Foulger Source London North GLH was added to ELP1.
Paroxysmal central nervous system disorders v0.24 EIF3G Rebecca Foulger Source London North GLH was added to EIF3G.
Paroxysmal central nervous system disorders v0.24 DMPK Rebecca Foulger Source London North GLH was added to DMPK.
Paroxysmal central nervous system disorders v0.24 CSTB Rebecca Foulger gene: CSTB was added
gene: CSTB was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red,London North GLH
Mode of inheritance for gene: CSTB was set to
Paroxysmal central nervous system disorders v0.24 CNBP Rebecca Foulger Source London North GLH was added to CNBP.
Paroxysmal central nervous system disorders v0.24 CLTCL1 Rebecca Foulger Source London North GLH was added to CLTCL1.
Paroxysmal central nervous system disorders v0.24 CLCN1 Rebecca Foulger Source London North GLH was added to CLCN1.
Paroxysmal central nervous system disorders v0.24 CCT5 Rebecca Foulger Source London North GLH was added to CCT5.
Paroxysmal central nervous system disorders v0.24 CACNA1S Rebecca Foulger Source London North GLH was added to CACNA1S.
Paroxysmal central nervous system disorders v0.24 ATP7B Rebecca Foulger Source London North GLH was added to ATP7B.
Paroxysmal central nervous system disorders v0.24 ATP2A1 Rebecca Foulger Source London North GLH was added to ATP2A1.
Paroxysmal central nervous system disorders v0.24 ATN1 Rebecca Foulger Source London North GLH was added to ATN1.
Paroxysmal central nervous system disorders v0.24 ATL3 Rebecca Foulger Source London North GLH was added to ATL3.
Paroxysmal central nervous system disorders v0.24 ATL1 Rebecca Foulger Source London North GLH was added to ATL1.
Paroxysmal central nervous system disorders v0.24 AKR1C2 Rebecca Foulger Source London North GLH was added to AKR1C2.
Paroxysmal central nervous system disorders v0.24 VAMP2 Rebecca Foulger gene: VAMP2 was added
gene: VAMP2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green,London North GLH
Mode of inheritance for gene: VAMP2 was set to
Paroxysmal central nervous system disorders v0.24 SLC6A5 Rebecca Foulger Source London North GLH was added to SLC6A5.
Paroxysmal central nervous system disorders v0.24 SLC2A1 Rebecca Foulger Source London North GLH was added to SLC2A1.
Paroxysmal central nervous system disorders v0.24 SLC1A3 Rebecca Foulger Source London North GLH was added to SLC1A3.
Paroxysmal central nervous system disorders v0.24 SCN1A Rebecca Foulger Source London North GLH was added to SCN1A.
Paroxysmal central nervous system disorders v0.24 PRRT2 Rebecca Foulger Source London North GLH was added to PRRT2.
Paroxysmal central nervous system disorders v0.24 PNKD Rebecca Foulger Source London North GLH was added to PNKD.
Paroxysmal central nervous system disorders v0.24 PDE2A Rebecca Foulger gene: PDE2A was added
gene: PDE2A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green,London North GLH
Mode of inheritance for gene: PDE2A was set to
Paroxysmal central nervous system disorders v0.24 PDE10A Rebecca Foulger gene: PDE10A was added
gene: PDE10A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green,London North GLH
Mode of inheritance for gene: PDE10A was set to
Paroxysmal central nervous system disorders v0.24 MOG Rebecca Foulger Source London North GLH was added to MOG.
Paroxysmal central nervous system disorders v0.24 KCNQ2 Rebecca Foulger Source London North GLH was added to KCNQ2.
Paroxysmal central nervous system disorders v0.24 KCNA1 Rebecca Foulger Source London North GLH was added to KCNA1.
Paroxysmal central nervous system disorders v0.24 GLRB Rebecca Foulger Source London North GLH was added to GLRB.
Paroxysmal central nervous system disorders v0.24 GLRA1 Rebecca Foulger Source London North GLH was added to GLRA1.
Paroxysmal central nervous system disorders v0.24 DNMT1 Rebecca Foulger Source London North GLH was added to DNMT1.
Paroxysmal central nervous system disorders v0.24 CSNK1D Rebecca Foulger Source London North GLH was added to CSNK1D.
Paroxysmal central nervous system disorders v0.24 CACNB4 Rebecca Foulger Source London North GLH was added to CACNB4.
Paroxysmal central nervous system disorders v0.24 CACNA1A Rebecca Foulger Source London North GLH was added to CACNA1A.
Paroxysmal central nervous system disorders v0.24 ATP1A3 Rebecca Foulger Source London North GLH was added to ATP1A3.
Paroxysmal central nervous system disorders v0.24 ATP1A2 Rebecca Foulger Source London North GLH was added to ATP1A2.
Paroxysmal central nervous system disorders v0.24 ADCY5 Rebecca Foulger Source London North GLH was added to ADCY5.
Paroxysmal central nervous system disorders v0.23 WNK1 Rebecca Foulger reviewed gene: WNK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 UBR4 Rebecca Foulger reviewed gene: UBR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 TTR Rebecca Foulger reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 TRPV4 Rebecca Foulger reviewed gene: TRPV4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 TRPA1 Rebecca Foulger reviewed gene: TRPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SPTLC2 Rebecca Foulger reviewed gene: SPTLC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SPTLC1 Rebecca Foulger reviewed gene: SPTLC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SLC6A4 Rebecca Foulger reviewed gene: SLC6A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SEPT9 Rebecca Foulger reviewed gene: SEPT9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SCN9A Rebecca Foulger reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SCN4A Rebecca Foulger reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SCN11A Rebecca Foulger reviewed gene: SCN11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SCN10A Rebecca Foulger reviewed gene: SCN10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 RYR1 Rebecca Foulger reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 RETREG1 Rebecca Foulger reviewed gene: RETREG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 RAB7A Rebecca Foulger reviewed gene: RAB7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 PYGM Rebecca Foulger reviewed gene: PYGM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 PRNP Rebecca Foulger reviewed gene: PRNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 PRDM12 Rebecca Foulger reviewed gene: PRDM12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 PER2 Rebecca Foulger reviewed gene: PER2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 NTRK2 Rebecca Foulger reviewed gene: NTRK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 NTRK1 Rebecca Foulger reviewed gene: NTRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 NGF Rebecca Foulger reviewed gene: NGF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 NAGLU Rebecca Foulger reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 MT-ATP8 Rebecca Foulger reviewed gene: MT-ATP8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 MT-ATP6 Rebecca Foulger reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 MPV17 Rebecca Foulger reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KIF1A Rebecca Foulger reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNJ2 Rebecca Foulger reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNJ18 Rebecca Foulger reviewed gene: KCNJ18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 HTT Rebecca Foulger reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 HSPG2 Rebecca Foulger reviewed gene: HSPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 HLA-DQB1 Rebecca Foulger reviewed gene: HLA-DQB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 HCRT Rebecca Foulger reviewed gene: HCRT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 GLA Rebecca Foulger reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 EXT1 Rebecca Foulger reviewed gene: EXT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ELP1 Rebecca Foulger reviewed gene: ELP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 EIF3G Rebecca Foulger reviewed gene: EIF3G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 DMPK Rebecca Foulger reviewed gene: DMPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CNBP Rebecca Foulger reviewed gene: CNBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CLTCL1 Rebecca Foulger reviewed gene: CLTCL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CLCN1 Rebecca Foulger reviewed gene: CLCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CCT5 Rebecca Foulger reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CACNA1S Rebecca Foulger reviewed gene: CACNA1S: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATP7B Rebecca Foulger reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATP2A1 Rebecca Foulger reviewed gene: ATP2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATN1 Rebecca Foulger reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATL3 Rebecca Foulger reviewed gene: ATL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATL1 Rebecca Foulger reviewed gene: ATL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 AKR1C2 Rebecca Foulger reviewed gene: AKR1C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SPR Rebecca Foulger reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SLC6A5 Rebecca Foulger reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SCN8A Rebecca Foulger reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 NKX2-1 Rebecca Foulger reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 MOG Rebecca Foulger reviewed gene: MOG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNQ3 Rebecca Foulger reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNQ2 Rebecca Foulger reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNK18 Rebecca Foulger reviewed gene: KCNK18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNJ5 Rebecca Foulger reviewed gene: KCNJ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 GLRB Rebecca Foulger reviewed gene: GLRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 GLRA1 Rebecca Foulger reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CACNB4 Rebecca Foulger reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATAD1 Rebecca Foulger reviewed gene: ATAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SLC2A1 Rebecca Foulger reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SLC1A3 Rebecca Foulger reviewed gene: SLC1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SCN1A Rebecca Foulger reviewed gene: SCN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 PRRT2 Rebecca Foulger reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 PNKD Rebecca Foulger reviewed gene: PNKD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNMA1 Rebecca Foulger reviewed gene: KCNMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNA1 Rebecca Foulger reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 DNMT1 Rebecca Foulger reviewed gene: DNMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CSNK1D Rebecca Foulger reviewed gene: CSNK1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CACNA1A Rebecca Foulger reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATP1A3 Rebecca Foulger reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATP1A2 Rebecca Foulger reviewed gene: ATP1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ADCY5 Rebecca Foulger reviewed gene: ADCY5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.22 WNK1 Tracy Lester reviewed gene: WNK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type II, 201300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 UBR4 Tracy Lester reviewed gene: UBR4: Rating: RED; Mode of pathogenicity: ; Publications: 23982692; Phenotypes: Episodic ataxia, type 8, 616055; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 TTR Tracy Lester reviewed gene: TTR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Carpal tunnel syndrome, familial, 115430, Amyloidosis, hereditary, transthyretin-related, 105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 TRPV4 Tracy Lester reviewed gene: TRPV4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary motor and sensory neuropathy, type IIc, 606071, [also many others]; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 TRPA1 Tracy Lester reviewed gene: TRPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic pain syndrome, familial, 1, 615040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SPTLC2 Tracy Lester reviewed gene: SPTLC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IC, 613640; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SPTLC1 Tracy Lester reviewed gene: SPTLC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: HSAN 1, Neuropathy, hereditary sensory and autonomic, type IA, 162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SLC6A4 Tracy Lester reviewed gene: SLC6A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: {Anxiety-related personality traits} 607834, {Obsessive-compulsive disorder} 164230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SEPT9 Tracy Lester reviewed gene: SEPT9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophy, hereditary neuralgic, 162100, Hereditary neuralgic amyotrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SCN9A Tracy Lester reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Paroxysmal extreme pain disorder, 167400, Erythermalgia, primary, AD, 133020, Small fiber neuropathy,133020, Febrile seizures, familial, 3B, 613863, Epilepsy, generalized, with febrile seizures plus, type 7, 613863, Insensitivity to pain, congenital, 243000, HSAN2D, autosomal recessive, AR, 243000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 SCN4A Tracy Lester reviewed gene: SCN4A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Thyrotoxic Periodic Paralysis, Susceptibility To, 2, Hypokalemic periodic paralysis, type 2, 613, Potassium-Aggravated Myotonia, Hyperkalemic periodic paralysis, type 2, 170500, Myasthenic syndrome, acetazolamide-responsive, 614198, Hyperkalemic Periodic Paralysis, Episodic weakness, Myotonia, Hypokalemic Periodic Paralysis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SCN11A Tracy Lester reviewed gene: SCN11A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic pain syndrome, familial, 3, 615552, Neuropathy, hereditary sensory and autonomic, type VII, 615548; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SCN10A Tracy Lester reviewed gene: SCN10A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic pain syndrome, familial, 2, 615551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 RYR1 Tracy Lester reviewed gene: RYR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Central core disease of muscle, 117000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 RETREG1 Tracy Lester reviewed gene: RETREG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, 613115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 RAB7A Tracy Lester reviewed gene: RAB7A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2B, 600882; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 PYGM Tracy Lester reviewed gene: PYGM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: McArdle disease, 232600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 PRNP Tracy Lester reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebral amyloid angiopathy, PRNP-related, 137440; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 PRDM12 Tracy Lester reviewed gene: PRDM12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, 616488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 PER2 Tracy Lester reviewed gene: PER2: Rating: RED; Mode of pathogenicity: ; Publications: 11232563; Phenotypes: Advanced sleep phase syndrome, familial, 1, 604348; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 NTRK2 Tracy Lester reviewed gene: NTRK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 58, 617830, Obesity, hyperphagia, and developmental delay, 613886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 NTRK1 Tracy Lester reviewed gene: NTRK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis (Hereditary sensory and autonomic neuropathy IV), 256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 NGF Tracy Lester reviewed gene: NGF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type V, 608654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 NAGLU Tracy Lester reviewed gene: NAGLU: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920, Charcot-Marie-Tooth disease, axonal, type 2V, 616491; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 MT-ATP8 Tracy Lester reviewed gene: MT-ATP8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Paroxysmal central nervous system disorders v0.22 MT-ATP6 Tracy Lester reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, ataxia, and retinitis pigmentosa, 551500; Mode of inheritance: MITOCHONDRIAL
Paroxysmal central nervous system disorders v0.22 MPV17 Tracy Lester reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 KIF1A Tracy Lester reviewed gene: KIF1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory, type IIC, 614213, Spastic paraplegia 30, autosomal recessive, 610357; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 KCNJ2 Tracy Lester reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Andersen cardiodysrhythmic periodic paralysis (Andersen syndrome), 170390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNJ18 Tracy Lester reviewed gene: KCNJ18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Thyrotoxic periodic paralysis, susceptibility to, 2, 613239; Mode of inheritance: Unknown
Paroxysmal central nervous system disorders v0.22 HTT Tracy Lester reviewed gene: HTT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Huntington disease, 143100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 HSPG2 Tracy Lester reviewed gene: HSPG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Schwartz-Jampel syndrome, type 1, 255800, Dyssegmental dysplasia, Silverman-Handmaker type, 224410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 HLA-DQB1 Tracy Lester reviewed gene: HLA-DQB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Kleine-Levin hibernation syndrome, 148840; Mode of inheritance: Unknown
Paroxysmal central nervous system disorders v0.22 HCRT Tracy Lester reviewed gene: HCRT: Rating: RED; Mode of pathogenicity: ; Publications: 10973318; Phenotypes: ?Narcolepsy 1, 161400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 GLA Tracy Lester reviewed gene: GLA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Fabry disease, 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Paroxysmal central nervous system disorders v0.22 EXT1 Tracy Lester reviewed gene: EXT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 ELP1 Tracy Lester reviewed gene: ELP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, Hereditary Sensory and Autonomic, Type III (also known as Dysautonomia, familial), 223900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 EIF3G Tracy Lester reviewed gene: EIF3G: Rating: RED; Mode of pathogenicity: ; Publications: 25669430; Phenotypes: Narcolepsy; Mode of inheritance: Unknown
Paroxysmal central nervous system disorders v0.22 DMPK Tracy Lester reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MYOTONIC DYSTROPHY 1 (DM1), Myotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 CNBP Tracy Lester reviewed gene: CNBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Myotonia, MYOTONIC DYSTROPHY 2 (DM2); Mode of inheritance: Other - please specifiy in evaluation comments
Paroxysmal central nervous system disorders v0.22 CLTCL1 Tracy Lester reviewed gene: CLTCL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital insensitivity to pain; Mode of inheritance: Unknown
Paroxysmal central nervous system disorders v0.22 CLCN1 Tracy Lester reviewed gene: CLCN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Myotonia congenita, recessive, 255700, Myotonia congenita, dominant, 160800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 CCT5 Tracy Lester reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia, 256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 CACNA1S Tracy Lester reviewed gene: CACNA1S: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypokalemic periodic paralysis, type 1, 170400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 ATP7B Tracy Lester reviewed gene: ATP7B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wilson disease, 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 ATP2A1 Tracy Lester reviewed gene: ATP2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brody myopathy, 601003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 ATN1 Tracy Lester reviewed gene: ATN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dentatorubro-pallidoluysian atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 ATL3 Tracy Lester reviewed gene: ATL3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory, type IF, 615632; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 ATL1 Tracy Lester reviewed gene: ATL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, autosomal dominant, 182600, Neuropathy, hereditary sensory, type ID, 613708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 AKR1C2 Tracy Lester reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Obesity, hyperphagia, and developmental delay; Mode of inheritance: Unknown
Paroxysmal central nervous system disorders v0.22 SPR Tracy Lester reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 SLC6A5 Tracy Lester reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 3, 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 SCN8A Tracy Lester reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 13, 614558, Seizures, benign familial infantile, 5, 617080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 NKX2-1 Tracy Lester reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24555207, 12196653; Phenotypes: Chorea, hereditary benign, 118700, Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 MOG Tracy Lester reviewed gene: MOG: Rating: AMBER; Mode of pathogenicity: ; Publications: 21907016; Phenotypes: Narcolepsy 7, 614250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNQ3 Tracy Lester reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Seizures, benign neonatal, type 2, 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNQ2 Tracy Lester reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Myokymia, 121200, Seizures, benign neonatal, 1, 121200, Epileptic encephalopathy, early infantile, 7, 613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNK18 Tracy Lester reviewed gene: KCNK18: Rating: AMBER; Mode of pathogenicity: ; Publications: 20871611, 22355750; Phenotypes: Migraine, with or without aura, susceptibility to, 13, 613656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNJ5 Tracy Lester reviewed gene: KCNJ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperaldosteronism, familial, type III, 613677, Long QT syndrome 13, 613485; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 GLRB Tracy Lester reviewed gene: GLRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 2, 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 GLRA1 Tracy Lester reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 1, 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 CACNB4 Tracy Lester reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic ataxia, type 5, 613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 ATAD1 Tracy Lester reviewed gene: ATAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 4, 618011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 SLC2A1 Tracy Lester reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, 606777, GLUT1 deficiency syndrome 2, childhood onset, 612126, Dystonia 9 (paroxysmal choreoathetosis with episodic ataxia), 601042; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 SLC1A3 Tracy Lester reviewed gene: SLC1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic ataxia, type 6, 612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 SCN1A Tracy Lester reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208, Epilepsy, generalized, with febrile seizures plus, type 2, 604403, Migraine, familial hemiplegic, 3, 609634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 PRRT2 Tracy Lester reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066, Episodic kinesigenic dyskinesia 1, 128200, Seizures, benign familial infantile, 2, 605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 PNKD Tracy Lester reviewed gene: PNKD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNMA1 Tracy Lester reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNA1 Tracy Lester reviewed gene: KCNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic Ataxia, type 1 (Episodic ataxia/myokymia syndrome), 160120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 DNMT1 Tracy Lester reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121, Neuropathy, hereditary sensory, type IE, 614116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 CSNK1D Tracy Lester reviewed gene: CSNK1D: Rating: GREEN; Mode of pathogenicity: ; Publications: 25660813, 23636092, 15800623; Phenotypes: Advanced sleep-phase syndrome, familial, 2, 615224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 CACNA1A Tracy Lester reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500, Migraine, familial hemiplegic, 1, 141500, Episodic Ataxia, type 2, 108500, Epileptic encephalopathy, early infantile, 42, 617106, Spinocerebellar ataxia 6, 183086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 ATP1A3 Tracy Lester reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia-12, 128235, Alternating hemiplegia of childhood 2, 614820, CAPOS syndrome, 601338; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 ATP1A2 Tracy Lester reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Migraine, familial basilar, 602481, Migraine, familial hemiplegic, 2, 602481, alternating hemiplegia of childhood 1, 104290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 ADCY5 Tracy Lester reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskinesia, familial, with facial myokymia, 606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.21 WNK1 Rebecca Foulger Source Wessex and West Midlands GLH was added to WNK1.
Paroxysmal central nervous system disorders v0.21 UBR4 Rebecca Foulger gene: UBR4 was added
gene: UBR4 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red,Wessex and West Midlands GLH
Mode of inheritance for gene: UBR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBR4 were set to 23982692
Phenotypes for gene: UBR4 were set to Episodic ataxia, type 8, 616055
Paroxysmal central nervous system disorders v0.21 TTR Rebecca Foulger Source Wessex and West Midlands GLH was added to TTR.
Paroxysmal central nervous system disorders v0.21 TRPV4 Rebecca Foulger Source Wessex and West Midlands GLH was added to TRPV4.
Paroxysmal central nervous system disorders v0.21 TRPA1 Rebecca Foulger Source Wessex and West Midlands GLH was added to TRPA1.
Paroxysmal central nervous system disorders v0.21 SPTLC2 Rebecca Foulger Source Wessex and West Midlands GLH was added to SPTLC2.
Paroxysmal central nervous system disorders v0.21 SPTLC1 Rebecca Foulger Source Wessex and West Midlands GLH was added to SPTLC1.
Paroxysmal central nervous system disorders v0.21 SLC6A4 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC6A4.
Paroxysmal central nervous system disorders v0.21 SEPT9 Rebecca Foulger Source Wessex and West Midlands GLH was added to SEPT9.
Paroxysmal central nervous system disorders v0.21 SCN9A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN9A.
Paroxysmal central nervous system disorders v0.21 SCN4A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN4A.
Paroxysmal central nervous system disorders v0.21 SCN11A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN11A.
Paroxysmal central nervous system disorders v0.21 SCN10A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN10A.
Paroxysmal central nervous system disorders v0.21 RYR1 Rebecca Foulger Source Wessex and West Midlands GLH was added to RYR1.
Paroxysmal central nervous system disorders v0.21 RETREG1 Rebecca Foulger Source Wessex and West Midlands GLH was added to RETREG1.
Paroxysmal central nervous system disorders v0.21 RAB7A Rebecca Foulger Source Wessex and West Midlands GLH was added to RAB7A.
Paroxysmal central nervous system disorders v0.21 PYGM Rebecca Foulger Source Wessex and West Midlands GLH was added to PYGM.
Paroxysmal central nervous system disorders v0.21 PRNP Rebecca Foulger Source Wessex and West Midlands GLH was added to PRNP.
Paroxysmal central nervous system disorders v0.21 PRDM12 Rebecca Foulger Source Wessex and West Midlands GLH was added to PRDM12.
Paroxysmal central nervous system disorders v0.21 PER2 Rebecca Foulger Source Wessex and West Midlands GLH was added to PER2.
Paroxysmal central nervous system disorders v0.21 NTRK2 Rebecca Foulger Source Wessex and West Midlands GLH was added to NTRK2.
Paroxysmal central nervous system disorders v0.21 NTRK1 Rebecca Foulger Source Wessex and West Midlands GLH was added to NTRK1.
Paroxysmal central nervous system disorders v0.21 NGF Rebecca Foulger Source Wessex and West Midlands GLH was added to NGF.
Paroxysmal central nervous system disorders v0.21 NAGLU Rebecca Foulger Source Wessex and West Midlands GLH was added to NAGLU.
Paroxysmal central nervous system disorders v0.21 MT-ATP8 Rebecca Foulger Source Wessex and West Midlands GLH was added to MT-ATP8.
Paroxysmal central nervous system disorders v0.21 MT-ATP6 Rebecca Foulger Source Wessex and West Midlands GLH was added to MT-ATP6.
Paroxysmal central nervous system disorders v0.21 MPV17 Rebecca Foulger Source Wessex and West Midlands GLH was added to MPV17.
Paroxysmal central nervous system disorders v0.21 KIF1A Rebecca Foulger Source Wessex and West Midlands GLH was added to KIF1A.
Paroxysmal central nervous system disorders v0.21 KCNJ2 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNJ2.
Paroxysmal central nervous system disorders v0.21 KCNJ18 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNJ18.
Paroxysmal central nervous system disorders v0.21 HTT Rebecca Foulger Source Wessex and West Midlands GLH was added to HTT.
Paroxysmal central nervous system disorders v0.21 HSPG2 Rebecca Foulger Source Wessex and West Midlands GLH was added to HSPG2.
Paroxysmal central nervous system disorders v0.21 HLA-DQB1 Rebecca Foulger Source Wessex and West Midlands GLH was added to HLA-DQB1.
Paroxysmal central nervous system disorders v0.21 HCRT Rebecca Foulger Source Wessex and West Midlands GLH was added to HCRT.
Paroxysmal central nervous system disorders v0.21 GLA Rebecca Foulger Source Wessex and West Midlands GLH was added to GLA.
Paroxysmal central nervous system disorders v0.21 EXT1 Rebecca Foulger Source Wessex and West Midlands GLH was added to EXT1.
Paroxysmal central nervous system disorders v0.21 ELP1 Rebecca Foulger Source Wessex and West Midlands GLH was added to ELP1.
Paroxysmal central nervous system disorders v0.21 EIF3G Rebecca Foulger Source Wessex and West Midlands GLH was added to EIF3G.
Paroxysmal central nervous system disorders v0.21 DMPK Rebecca Foulger Source Wessex and West Midlands GLH was added to DMPK.
Paroxysmal central nervous system disorders v0.21 CNBP Rebecca Foulger Source Wessex and West Midlands GLH was added to CNBP.
Paroxysmal central nervous system disorders v0.21 CLTCL1 Rebecca Foulger Source Wessex and West Midlands GLH was added to CLTCL1.
Paroxysmal central nervous system disorders v0.21 CLCN1 Rebecca Foulger Source Wessex and West Midlands GLH was added to CLCN1.
Paroxysmal central nervous system disorders v0.21 CCT5 Rebecca Foulger Source Wessex and West Midlands GLH was added to CCT5.
Paroxysmal central nervous system disorders v0.21 CACNA1S Rebecca Foulger Source Wessex and West Midlands GLH was added to CACNA1S.
Paroxysmal central nervous system disorders v0.21 ATP7B Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP7B.
Paroxysmal central nervous system disorders v0.21 ATP2A1 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP2A1.
Paroxysmal central nervous system disorders v0.21 ATN1 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATN1.
Paroxysmal central nervous system disorders v0.21 ATL3 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATL3.
Paroxysmal central nervous system disorders v0.21 ATL1 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATL1.
Paroxysmal central nervous system disorders v0.21 AKR1C2 Rebecca Foulger Source Wessex and West Midlands GLH was added to AKR1C2.
Paroxysmal central nervous system disorders v0.21 SPR Rebecca Foulger Source Wessex and West Midlands GLH was added to SPR.
Paroxysmal central nervous system disorders v0.21 SLC6A5 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC6A5.
Paroxysmal central nervous system disorders v0.21 SCN8A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN8A.
Paroxysmal central nervous system disorders v0.21 NKX2-1 Rebecca Foulger Source Wessex and West Midlands GLH was added to NKX2-1.
Paroxysmal central nervous system disorders v0.21 MOG Rebecca Foulger Source Wessex and West Midlands GLH was added to MOG.
Paroxysmal central nervous system disorders v0.21 KCNQ3 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNQ3.
Paroxysmal central nervous system disorders v0.21 KCNQ2 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNQ2.
Paroxysmal central nervous system disorders v0.21 KCNK18 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNK18.
Paroxysmal central nervous system disorders v0.21 KCNJ5 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNJ5.
Paroxysmal central nervous system disorders v0.21 GLRB Rebecca Foulger Source Wessex and West Midlands GLH was added to GLRB.
Paroxysmal central nervous system disorders v0.21 GLRA1 Rebecca Foulger Source Wessex and West Midlands GLH was added to GLRA1.
Paroxysmal central nervous system disorders v0.21 CACNB4 Rebecca Foulger Source Wessex and West Midlands GLH was added to CACNB4.
Paroxysmal central nervous system disorders v0.21 ATAD1 Rebecca Foulger gene: ATAD1 was added
gene: ATAD1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Wessex and West Midlands GLH,Expert Review Amber
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, 618011
Paroxysmal central nervous system disorders v0.21 SLC2A1 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC2A1.
Paroxysmal central nervous system disorders v0.21 SLC1A3 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC1A3.
Paroxysmal central nervous system disorders v0.21 SCN1A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN1A.
Paroxysmal central nervous system disorders v0.21 PRRT2 Rebecca Foulger Source Wessex and West Midlands GLH was added to PRRT2.
Paroxysmal central nervous system disorders v0.21 PNKD Rebecca Foulger Source Wessex and West Midlands GLH was added to PNKD.
Paroxysmal central nervous system disorders v0.21 KCNMA1 Rebecca Foulger gene: KCNMA1 was added
gene: KCNMA1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green,Wessex and West Midlands GLH
Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNMA1 were set to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446
Paroxysmal central nervous system disorders v0.21 KCNA1 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNA1.
Paroxysmal central nervous system disorders v0.21 DNMT1 Rebecca Foulger Source Wessex and West Midlands GLH was added to DNMT1.
Paroxysmal central nervous system disorders v0.21 CSNK1D Rebecca Foulger Source Wessex and West Midlands GLH was added to CSNK1D.
Paroxysmal central nervous system disorders v0.21 CACNA1A Rebecca Foulger Source Wessex and West Midlands GLH was added to CACNA1A.
Paroxysmal central nervous system disorders v0.21 ATP1A3 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP1A3.
Paroxysmal central nervous system disorders v0.21 ATP1A2 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP1A2.
Paroxysmal central nervous system disorders v0.21 ADCY5 Rebecca Foulger Source Wessex and West Midlands GLH was added to ADCY5.
Paroxysmal central nervous system disorders v0.20 TTR Ellen McDonagh Publications for gene: TTR were set to 12771253; The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. 8th ed.Benson, M. D. Amyloidosis. In: Scriver, C. R et al.: New York: McGraw-Hill . 2001.; 25069833; 19365058; 28678039; 26800456; 8309582; 14640030; 16433699; 3011930
Paroxysmal central nervous system disorders v0.19 TTR Ellen McDonagh reviewed gene: TTR: Rating: ; Mode of pathogenicity: None; Publications: 30878017, 31131842, 31118583, 31111153, 30120737; Phenotypes: Amyloidosis, hereditary, transthyretin-related 105210; Mode of inheritance: None
Paroxysmal central nervous system disorders v0.19 TTR Ellen McDonagh Tag treatable tag was added to gene: TTR.
Paroxysmal central nervous system disorders v0.18 SEPT9 Louise Daugherty Tag new-gene-name tag was added to gene: SEPT9.
Paroxysmal central nervous system disorders v0.18 SEPT9 Louise Daugherty commented on gene: SEPT9
Paroxysmal central nervous system disorders v0.18 FAAHP1 Louise Daugherty commented on gene: FAAHP1: From HGNC the authors PMID:30929760 specify that they used hg19in their CNV analysis (GRCh37). Looking in GRCh37 annotations in the archived version of Ensembl, gene they call ‘FAAH-OUT’ was not annotated at the time, except as http://feb2014.archive.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000232022;r=1:46897801-46911193;tl=YL1ImqsrtgZ7MKxn-5146184-727716019. Doing a BLAST search with the FAAH cDNA on GRCh38 in Ensembl 95 detected both FAAH (ENSG00000117480) and a gene now annotated as ENSG00000232022 in the appropriate location of the genome. HGNC named this as FAAHP1 in 2014. FAAH-OUT is an alias for FAAHP1.
Paroxysmal central nervous system disorders v0.18 FAAHP1 Louise Daugherty gene: FAAHP1 was added
gene: FAAHP1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Literature
Mode of inheritance for gene: FAAHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAAHP1 were set to 30929760
Phenotypes for gene: FAAHP1 were set to Pain insensitivity
Review for gene: FAAHP1 was set to RED
Added comment: From OMIM Habib et al. (2019) PMID: 30929760 identified a heterozygous approximately 8-kb heterozygous microdeletion on chromosome 1, about 4.7 kb downstream of the 3-prime end of the FAAH gene. Molecular cloning identified novel 5-prime exons of an expressed FAAH pseudogene, termed FAAHP1 (FAAH-OUT), that mapped within the microdeletion. The microdeletion removed the promoter and first 2 exons of the neighboring FAAHP1 gene. The authors noted that the deleted region is flanked by ALU sequences, which may predispose it to deletion by unequal crossing over. The affected woman also carried a heterozygous hypomorphic polymorphism in the FAAH gene (P129T; 602935.0001) that reduces FAAH enzyme activity. The patient's son, who exhibited some pain insensitivity, carried the microdeletion but not the hypomorphic FAAH allele. The woman's unaffected mother and daughter did not carry the microdeletion, but both carried the FAAH polymorphism in heterozygous state. The proband had approximately triple the levels of various circulating fatty acid amides normally degraded by FAAH compared with controls who were either homozygous wildtype or heterozygous for the hypomorphic FAAH allele. The authors proposed that the microdeletion affects FAAH function either by removing a regulatory element for FAAH or by reducing expression of FAAH-OUT, which may regulate FAAH epigenetically or function as a microRNA decoy for FAAH. One Colombian male sequenced in the 1000 Genomes Project carried a similar microdeletion, but his pain sensitivity was unknown, and he was homozygous wildtype for the FAAH allele. The case provided new insights into the role of the endocannabinoid system in analgesia.
Sources: Literature
Sources: Literature
Paroxysmal central nervous system disorders v0.17 TBP_CAG Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence)
Paroxysmal central nervous system disorders v0.17 TBP_CAG Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.16 TBP_CAG Louise Daugherty STR: TBP_CAG was added
STR: TBP_CAG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert list
STR tags were added to STR: TBP_CAG.
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136
Review for STR: TBP_CAG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Paroxysmal central nervous system disorders v0.15 DMPK_CTG Louise Daugherty Classified STR: DMPK_CTG as Green List (high evidence)
Paroxysmal central nervous system disorders v0.15 DMPK_CTG Louise Daugherty Str: dmpk_ctg has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.14 DMPK_CTG Louise Daugherty STR: DMPK_CTG was added
STR: DMPK_CTG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert list
STR tags were added to STR: DMPK_CTG.
Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: DMPK_CTG were set to Myotonic dystrophy 1 160900
Review for STR: DMPK_CTG was set to GREEN
Added comment: Source PanelApp panels : Skeletal Muscle Channelopathies v1.11
Sources: Expert list
Paroxysmal central nervous system disorders v0.13 CACNA1A_CAG Louise Daugherty Classified STR: CACNA1A_CAG as Green List (high evidence)
Paroxysmal central nervous system disorders v0.13 CACNA1A_CAG Louise Daugherty Str: cacna1a_cag has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.12 CACNA1A_CAG Louise Daugherty STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert list
STR tags were added to STR: CACNA1A_CAG.
Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086
Review for STR: CACNA1A_CAG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Paroxysmal central nervous system disorders v0.11 CSTB_CCCCGCCCCGCG Louise Daugherty Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Paroxysmal central nervous system disorders v0.11 CSTB_CCCCGCCCCGCG Louise Daugherty Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.10 CSTB_CCCCGCCCCGCG Louise Daugherty STR: CSTB_CCCCGCCCCGCG was added
STR: CSTB_CCCCGCCCCGCG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert list
STR tags were added to STR: CSTB_CCCCGCCCCGCG.
Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: CSTB_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Review for STR: CSTB_CCCCGCCCCGCG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Paroxysmal central nervous system disorders v0.9 ATN1_CAG Louise Daugherty Classified STR: ATN1_CAG as Green List (high evidence)
Paroxysmal central nervous system disorders v0.9 ATN1_CAG Louise Daugherty Str: atn1_cag has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.8 ATN1_CAG Louise Daugherty STR: ATN1_CAG was added
STR: ATN1_CAG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert list
STR tags were added to STR: ATN1_CAG.
Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090
Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370
Review for STR: ATN1_CAG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Paroxysmal central nervous system disorders v0.7 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
Paroxysmal central nervous system disorders v0.6 GLRB Louise Daugherty Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619
Paroxysmal central nervous system disorders v0.5 SLC6A5 Louise Daugherty Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618
Paroxysmal central nervous system disorders v0.3 PRNP Ellen McDonagh Added phenotypes Cerebral amyloid angiopathy, PRNP-related for gene: PRNP
Paroxysmal central nervous system disorders v0.3 NKX2-1 Ellen McDonagh Added phenotypes Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress for gene: NKX2-1
Paroxysmal central nervous system disorders v0.3 HTT Ellen McDonagh Added phenotypes Huntington disease for gene: HTT
Paroxysmal central nervous system disorders v0.3 GLA Ellen McDonagh Added phenotypes Fabry disease, for gene: GLA
Paroxysmal central nervous system disorders v0.3 ATP1A2 Ellen McDonagh Added phenotypes familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290 for gene: ATP1A2
Paroxysmal central nervous system disorders v0.3 ATN1 Ellen McDonagh Added phenotypes Dentatorubro-pallidoluysian atrophy for gene: ATN1
Paroxysmal central nervous system disorders v0.3 SLC6A4 Ellen McDonagh Added phenotypes SLC6A4-Related Behavior Disorders; {Anxiety-related personality traits} 607834; {Obsessive-compulsive disorder} for gene: SLC6A4
Paroxysmal central nervous system disorders v0.3 WNK1 Ellen McDonagh Added phenotypes HSAN 2; Neuropathy, hereditary sensory and autonomic, type II, 201300; Hereditary sensory and autonomic neuropathy type IIA for gene: WNK1
Paroxysmal central nervous system disorders v0.3 TTR Ellen McDonagh Added phenotypes Carpal tunnel syndrome, familial, 115430; Hereditary amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210; Familial amyloid polyneuropathy for gene: TTR
Paroxysmal central nervous system disorders v0.3 TRPV4 Ellen McDonagh Added phenotypes sexual disinhibition; apathi; feeling of unreality; impaired memory; impaired speech; altered tactile, gustative, and olphatory perceptions; compulsive eating and drinking (or decreased eating); irritability; recurrent hypersomnia; transient symptoms at the end, amnesia, moderate elation and insomnia; Monozygotic twins concordant for Kleine-Levin Syndrome; confusion; normality between episodes; behavioral disturbances; depression and anxiety for gene: TRPV4
Paroxysmal central nervous system disorders v0.3 TRPA1 Ellen McDonagh Added phenotypes Episodic pain syndrome, familial, 615040; Familial episodic pain syndrome type I for gene: TRPA1
Paroxysmal central nervous system disorders v0.3 SPTLC2 Ellen McDonagh Added phenotypes HSAN 1; Hereditary sensory and autonomic neuropathy type IC; Neuropathy, hereditary sensory and autonomic, type IC, 613640 for gene: SPTLC2
Paroxysmal central nervous system disorders v0.3 SPTLC1 Ellen McDonagh Added phenotypes HSAN 1; Neuropathy, hereditary sensory and autonomic, type IA, 162400; Hereditary sensory neuropathy type IA for gene: SPTLC1
Paroxysmal central nervous system disorders v0.3 SPR Ellen McDonagh Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 for gene: SPR
Paroxysmal central nervous system disorders v0.3 SLC6A5 Ellen McDonagh Added phenotypes 614618 HYPEREKPLEXIA 3 for gene: SLC6A5
Paroxysmal central nervous system disorders v0.3 SLC2A1 Ellen McDonagh Added phenotypes EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 DEFICIENCY SYNDROME 1 for gene: SLC2A1
Paroxysmal central nervous system disorders v0.3 SLC1A3 Ellen McDonagh Added phenotypes Episodic ataxia, type 6, 612656; EPISODIC ATAXIA, TYPE 6; Episodic Ataxia for gene: SLC1A3
Paroxysmal central nervous system disorders v0.3 SEPT9 Ellen McDonagh Added phenotypes Amyotrophy, hereditary neuralgic, 162100; Hereditary neuralgic amyotrophy for gene: SEPT9
Paroxysmal central nervous system disorders v0.3 SCN9A Ellen McDonagh Added phenotypes Paroxysmal extreme pain disorder, 167400; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Erythermalgia, primary, AD, 133020; Paroxysmal extreme pain disorder, AD, 167400; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863; Insensitivity to pain, channelopathy-associated, 243000; Insensitivity to pain, congenital, AR, 243000; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Dysosteosclerosis; HSAN2D, autosomal recessive, AR, 243000; Small fiber neuropathy, AD,133020; Erythermalgia, primary, 133020; Erythermalgia, Primary for gene: SCN9A
Paroxysmal central nervous system disorders v0.3 SCN8A Ellen McDonagh Added phenotypes epilepsy; paroxysmal kinesigenic dyskinesias for gene: SCN8A
Paroxysmal central nervous system disorders v0.3 SCN4A Ellen McDonagh Added phenotypes Thyrotoxic Periodic Paralysis, Susceptibility To, 2; Hypokalemic periodic paralysis, type 2, 613; Potassium-Aggravated Myotonia; Hyperkalemic Periodic Paralysis; Myasthenic syndrome, acetazolamide-responsive, 614198; Hyperkalemic periodic paralysis, type 2, 170500; Episodic weakness; Myotonia; Hypokalemic Periodic Paralysis for gene: SCN4A
Paroxysmal central nervous system disorders v0.3 SCN1A Ellen McDonagh Added phenotypes Dravet syndrome; several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3 for gene: SCN1A
Paroxysmal central nervous system disorders v0.3 SCN11A Ellen McDonagh Added phenotypes Familial episodic pain syndrome; Episodic pain syndrome, familial, 3, 615552; Neuropathy, hereditary sensory and autonomic, type VII, 615548; Hereditary sensory and autonomic neuropathy type VII for gene: SCN11A
Paroxysmal central nervous system disorders v0.3 SCN10A Ellen McDonagh Added phenotypes Painful small fibre neuropathy; SFN; Small fibre neuropathy; Familial episodic pain syndrome-2; Episodic pain syndrome, familial, 2, 615551 for gene: SCN10A
Paroxysmal central nervous system disorders v0.3 RETREG1 Ellen McDonagh Added phenotypes Hereditary sensory and autonomic neuropathy; Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN 2B for gene: RETREG1
Paroxysmal central nervous system disorders v0.3 RAB7A Ellen McDonagh Added phenotypes Hereditary motor and sensory neuropathy IIB; Charcot-Marie-Tooth disease, type 2B, 600882; HSAN1/2B for gene: RAB7A
Paroxysmal central nervous system disorders v0.3 PYGM Ellen McDonagh Added phenotypes McArdle disease, 232600 for gene: PYGM
Paroxysmal central nervous system disorders v0.3 PRRT2 Ellen McDonagh Added phenotypes SEIZURES, BENIGN FAMILIAL INFANTILE, 2; episodic kinesigenic dyskinesia; EPISODIC KINESIGENIC DYSKINESIA 1; dystonia and occasionally hemiplegic migraine and epilepsy; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS for gene: PRRT2
Paroxysmal central nervous system disorders v0.3 PRDM12 Ellen McDonagh Added phenotypes Neuropathy, hereditary sensory and autonomic, type VIII, 616488; Hereditary sensory and autonomic neuropathy type VIII; HSAN 8 for gene: PRDM12
Paroxysmal central nervous system disorders v0.3 PNKD Ellen McDonagh Added phenotypes PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 for gene: PNKD
Paroxysmal central nervous system disorders v0.3 PER2 Ellen McDonagh Added phenotypes Advanced sleep phase syndrome, familial, 1, 604348 for gene: PER2
Paroxysmal central nervous system disorders v0.3 NTRK2 Ellen McDonagh Added phenotypes Obesity, hyperphagia, and developmental delay, 613886 for gene: NTRK2
Paroxysmal central nervous system disorders v0.3 NTRK1 Ellen McDonagh Added phenotypes HSAN 4; Hereditary sensory neuropathy type IV; Insensitivity to pain, congenital, with anhidrosis, 256800 for gene: NTRK1
Paroxysmal central nervous system disorders v0.3 NGF Ellen McDonagh Added phenotypes Congenital sensory neuropathy with selective loss of small myelinated fibers; Neuropathy, hereditary sensory and autonomic, type V, 608654; Hereditary sensory neuropathy type V; HSAN 5 for gene: NGF
Paroxysmal central nervous system disorders v0.3 NAGLU Ellen McDonagh Added phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920; Late-onset painful sensory neuropathy, AD for gene: NAGLU
Paroxysmal central nervous system disorders v0.3 MPV17 Ellen McDonagh Added phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Navajo neurohepatopathy; Pain insensitivity for gene: MPV17
Paroxysmal central nervous system disorders v0.3 MOG Ellen McDonagh Added phenotypes Narcolepsy 7, 614250 for gene: MOG
Paroxysmal central nervous system disorders v0.3 KIF1A Ellen McDonagh Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213 for gene: KIF1A
Paroxysmal central nervous system disorders v0.3 KCNQ3 Ellen McDonagh Added phenotypes Seizures, benign neonatal, type 2, 121201 for gene: KCNQ3
Paroxysmal central nervous system disorders v0.3 KCNQ2 Ellen McDonagh Added phenotypes Myokymia, 121200; Seizures, benign neonatal, 1, 121200; Epileptic encephalopathy, early infantile, 7, 613720 for gene: KCNQ2
Paroxysmal central nervous system disorders v0.3 KCNK18 Ellen McDonagh Added phenotypes MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 for gene: KCNK18
Paroxysmal central nervous system disorders v0.3 KCNJ2 Ellen McDonagh Added phenotypes ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Andersen syndrome; Hypokalemic Periodic Paralysis, Type 2 for gene: KCNJ2
Paroxysmal central nervous system disorders v0.3 KCNJ18 Ellen McDonagh Added phenotypes Hypokalemic Periodic Paralysis, Type 1 for gene: KCNJ18
Paroxysmal central nervous system disorders v0.3 KCNA1 Ellen McDonagh Added phenotypes Episodic Ataxia; EPISODIC ATAXIA, TYPE 1; Episodic ataxia/myokymia syndrome, 160120; EA1; Myokymia; myokymia with periodic ataxia; Episodic Ataxia, Type 1 for gene: KCNA1
Paroxysmal central nervous system disorders v0.3 HSPG2 Ellen McDonagh Added phenotypes Schwartz-Jampel syndrome, type 1, 255800 for gene: HSPG2
Paroxysmal central nervous system disorders v0.3 HLA-DQB1 Ellen McDonagh Added phenotypes Kleine-Levin hibernation syndrome 148840; narcolepsy for gene: HLA-DQB1
Paroxysmal central nervous system disorders v0.3 HCRT Ellen McDonagh Added phenotypes ?Narcolepsy 1, 161400 for gene: HCRT
Paroxysmal central nervous system disorders v0.3 GLRB Ellen McDonagh Added phenotypes 614619 HYPEREKPLEXIA 2 for gene: GLRB
Paroxysmal central nervous system disorders v0.3 GLRA1 Ellen McDonagh Added phenotypes 149400 HYPEREKPLEXIA, HEREDITARY 1 for gene: GLRA1
Paroxysmal central nervous system disorders v0.3 EXT1 Ellen McDonagh Added phenotypes Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family) for gene: EXT1
Paroxysmal central nervous system disorders v0.3 ELP1 Ellen McDonagh Added phenotypes NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Familial dysautonomia; Dysautonomia, familial, 223900 for gene: ELP1
Paroxysmal central nervous system disorders v0.3 EIF3G Ellen McDonagh Added phenotypes Narcolepsy for gene: EIF3G
Paroxysmal central nervous system disorders v0.3 DNMT1 Ellen McDonagh Added phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116; CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN for gene: DNMT1
Paroxysmal central nervous system disorders v0.3 DMPK Ellen McDonagh Added phenotypes MYOTONIC DYSTROPHY 1 (DM1); Myotonia for gene: DMPK
Paroxysmal central nervous system disorders v0.3 CSNK1D Ellen McDonagh Added phenotypes Advanced sleep-phase syndrome, familial, 2, 615224 for gene: CSNK1D
Paroxysmal central nervous system disorders v0.3 CNBP Ellen McDonagh Added phenotypes Myotonia; MYOTONIC DYSTROPHY 2 (DM2) for gene: CNBP
Paroxysmal central nervous system disorders v0.3 CLTCL1 Ellen McDonagh Added phenotypes Congenital insensitivity to pain for gene: CLTCL1
Paroxysmal central nervous system disorders v0.3 CLCN1 Ellen McDonagh Added phenotypes Myotonia levior, recessive; Myotonia congenita, recessive, 255700; Hyperkalemic Periodic Paralysis; Myotonia Congenita; Myotonia; Myotonia congenita, dominant, 160800 for gene: CLCN1
Paroxysmal central nervous system disorders v0.3 CCT5 Ellen McDonagh Added phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HSAN with spastic paraplegia for gene: CCT5
Paroxysmal central nervous system disorders v0.3 CACNB4 Ellen McDonagh Added phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682; Episodic ataxia, type 5, 613855; Episodic Ataxia; EPISODIC ATAXIA, TYPE 5; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 for gene: CACNB4
Paroxysmal central nervous system disorders v0.3 CACNA1S Ellen McDonagh Added phenotypes Hypokalemic periodic paralysis, type 1, 170400 for gene: CACNA1S
Paroxysmal central nervous system disorders v0.3 CACNA1A Ellen McDonagh Added phenotypes Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500; EA2; Migraine, familial hemiplegic, 1, 141500; Episodic Ataxia, Type 2; familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500; Spinocerebellar ataxia 6, 183086; Episodic ataxia, type 2, 108500 for gene: CACNA1A
Paroxysmal central nervous system disorders v0.3 ATP7B Ellen McDonagh Added phenotypes Wilson disease 277900 for gene: ATP7B
Paroxysmal central nervous system disorders v0.3 ATP2A1 Ellen McDonagh Added phenotypes Brody myopathy 601003 for gene: ATP2A1
Paroxysmal central nervous system disorders v0.3 ATP1A3 Ellen McDonagh Added phenotypes DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820 for gene: ATP1A3
Paroxysmal central nervous system disorders v0.3 ATL3 Ellen McDonagh Added phenotypes Neuropathy, hereditary sensory, type IF, 615632; HSN1F for gene: ATL3
Paroxysmal central nervous system disorders v0.3 ATL1 Ellen McDonagh Added phenotypes Hereditary spastic paraplegia, 182600; Hereditary sensory neuropathy; HSN1D; Neuropathy, hereditary sensory, type ID, 613708 for gene: ATL1
Paroxysmal central nervous system disorders v0.3 AKR1C2 Ellen McDonagh Added phenotypes Obesity, hyperphagia, and developmental delay for gene: AKR1C2
Paroxysmal central nervous system disorders v0.3 ADCY5 Ellen McDonagh Added phenotypes Familial dyskinesia 606703; Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5
Paroxysmal central nervous system disorders v0.2 PRNP Ellen McDonagh gene: PRNP was added
gene: PRNP was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRNP were set to 25287017; 27716661; 26768678; 24224623
Phenotypes for gene: PRNP were set to Cerebral amyloid angiopathy, PRNP-related
Paroxysmal central nervous system disorders v0.2 NKX2-1 Ellen McDonagh gene: NKX2-1 was added
gene: NKX2-1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-1 were set to 24555207
Phenotypes for gene: NKX2-1 were set to Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Paroxysmal central nervous system disorders v0.2 HTT Ellen McDonagh gene: HTT was added
gene: HTT was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HTT were set to Huntington disease
Mode of pathogenicity for gene: HTT was set to Other - please provide details in the comments
Paroxysmal central nervous system disorders v0.2 GLA Ellen McDonagh gene: GLA was added
gene: GLA was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: GLA 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: GLA were set to Fabry disease,
Paroxysmal central nervous system disorders v0.2 ATP1A2 Ellen McDonagh gene: ATP1A2 was added
gene: ATP1A2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A2 were set to 12539047; 12953268; 18056581
Phenotypes for gene: ATP1A2 were set to familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290
Paroxysmal central nervous system disorders v0.2 ATN1 Ellen McDonagh gene: ATN1 was added
gene: ATN1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATN1 were set to Dentatorubro-pallidoluysian atrophy
Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments
Paroxysmal central nervous system disorders v0.2 SLC6A4 Ellen McDonagh gene: SLC6A4 was added
gene: SLC6A4 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: SLC6A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC6A4 were set to 17101915; 16642437; 15642926
Phenotypes for gene: SLC6A4 were set to SLC6A4-Related Behavior Disorders; {Anxiety-related personality traits} 607834; {Obsessive-compulsive disorder}
Mode of pathogenicity for gene: SLC6A4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Paroxysmal central nervous system disorders v0.2 WNK1 Ellen McDonagh gene: WNK1 was added
gene: WNK1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNK1 were set to 21625937; 15911806; 18521183; 15455397; 15060842; 16636245; 16946995
Phenotypes for gene: WNK1 were set to HSAN 2; Neuropathy, hereditary sensory and autonomic, type II, 201300; Hereditary sensory and autonomic neuropathy type IIA
Paroxysmal central nervous system disorders v0.2 TTR Ellen McDonagh gene: TTR was added
gene: TTR was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TTR were set to 12771253; The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. 8th ed.Benson, M. D. Amyloidosis. In: Scriver, C. R et al.: New York: McGraw-Hill . 2001.; 25069833; 19365058; 28678039; 26800456; 8309582; 14640030; 16433699; 3011930
Phenotypes for gene: TTR were set to Carpal tunnel syndrome, familial, 115430; Hereditary amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210; Familial amyloid polyneuropathy
Paroxysmal central nervous system disorders v0.2 TRPV4 Ellen McDonagh gene: TRPV4 was added
gene: TRPV4 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPV4 were set to 22547884
Phenotypes for gene: TRPV4 were set to sexual disinhibition; apathi; feeling of unreality; impaired memory; impaired speech; altered tactile, gustative, and olphatory perceptions; compulsive eating and drinking (or decreased eating); irritability; recurrent hypersomnia; transient symptoms at the end, amnesia, moderate elation and insomnia; Monozygotic twins concordant for Kleine-Levin Syndrome; confusion; normality between episodes; behavioral disturbances; depression and anxiety
Paroxysmal central nervous system disorders v0.2 TRPA1 Ellen McDonagh gene: TRPA1 was added
gene: TRPA1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: TRPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRPA1 were set to 28314413; 20718100; 28436534; 24778270; 16564016; 20547126; 24564660; 21468319
Phenotypes for gene: TRPA1 were set to Episodic pain syndrome, familial, 615040; Familial episodic pain syndrome type I
Paroxysmal central nervous system disorders v0.2 SPTLC2 Ellen McDonagh gene: SPTLC2 was added
gene: SPTLC2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPTLC2 were set to 27025386; 26681808; 20920666; 12207934; 23658386
Phenotypes for gene: SPTLC2 were set to HSAN 1; Hereditary sensory and autonomic neuropathy type IC; Neuropathy, hereditary sensory and autonomic, type IC, 613640
Paroxysmal central nervous system disorders v0.2 SPTLC1 Ellen McDonagh gene: SPTLC1 was added
gene: SPTLC1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPTLC1 were set to 11242114; 15037712; 11242106
Phenotypes for gene: SPTLC1 were set to HSAN 1; Neuropathy, hereditary sensory and autonomic, type IA, 162400; Hereditary sensory neuropathy type IA
Paroxysmal central nervous system disorders v0.2 SPR Ellen McDonagh gene: SPR was added
gene: SPR was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
Paroxysmal central nervous system disorders v0.2 SLC6A5 Ellen McDonagh gene: SLC6A5 was added
gene: SLC6A5 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A5 were set to 16751771
Phenotypes for gene: SLC6A5 were set to 614618 HYPEREKPLEXIA 3
Paroxysmal central nervous system disorders v0.2 SLC2A1 Ellen McDonagh gene: SLC2A1 was added
gene: SLC2A1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLC2A1 were set to 18451999; 19630075; 18577546
Phenotypes for gene: SLC2A1 were set to EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 DEFICIENCY SYNDROME 1
Paroxysmal central nervous system disorders v0.2 SLC1A3 Ellen McDonagh gene: SLC1A3 was added
gene: SLC1A3 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC1A3 were set to 27829685; 16116111; 19139306
Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6, 612656; EPISODIC ATAXIA, TYPE 6; Episodic Ataxia
Paroxysmal central nervous system disorders v0.2 SEPT9 Ellen McDonagh gene: SEPT9 was added
gene: SEPT9 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEPT9 were set to 19451530; 21556032; 16186812
Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic, 162100; Hereditary neuralgic amyotrophy
Paroxysmal central nervous system disorders v0.2 SCN9A Ellen McDonagh gene: SCN9A was added
gene: SCN9A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCN9A were set to 17145499; 16392115; 17679678; 17470132; 24813307; 28665811; 25316021; 16216943; 1536168; 24817410; 15958509; 28235406; 23596073; 17167479; 14985375
Phenotypes for gene: SCN9A were set to Paroxysmal extreme pain disorder, 167400; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Erythermalgia, primary, AD, 133020; Paroxysmal extreme pain disorder, AD, 167400; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863; Insensitivity to pain, channelopathy-associated, 243000; Insensitivity to pain, congenital, AR, 243000; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Dysosteosclerosis; HSAN2D, autosomal recessive, AR, 243000; Small fiber neuropathy, AD,133020; Erythermalgia, primary, 133020; Erythermalgia, Primary
Paroxysmal central nervous system disorders v0.2 SCN8A Ellen McDonagh gene: SCN8A was added
gene: SCN8A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN8A were set to 26677014
Phenotypes for gene: SCN8A were set to epilepsy; paroxysmal kinesigenic dyskinesias
Paroxysmal central nervous system disorders v0.2 SCN4A Ellen McDonagh gene: SCN4A was added
gene: SCN4A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN4A were set to 17395131; 15534250
Phenotypes for gene: SCN4A were set to Thyrotoxic Periodic Paralysis, Susceptibility To, 2; Hypokalemic periodic paralysis, type 2, 613; Potassium-Aggravated Myotonia; Hyperkalemic Periodic Paralysis; Myasthenic syndrome, acetazolamide-responsive, 614198; Hyperkalemic periodic paralysis, type 2, 170500; Episodic weakness; Myotonia; Hypokalemic Periodic Paralysis
Paroxysmal central nervous system disorders v0.2 SCN1A Ellen McDonagh gene: SCN1A was added
gene: SCN1A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN1A were set to 16054936; 19332696
Phenotypes for gene: SCN1A were set to Dravet syndrome; several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3
Paroxysmal central nervous system disorders v0.2 SCN11A Ellen McDonagh gene: SCN11A was added
gene: SCN11A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN11A were set to 24776970; 24207120; 27503742; 28665811; 24813307; 24036948; 25316021; 26645915; 28298626
Phenotypes for gene: SCN11A were set to Familial episodic pain syndrome; Episodic pain syndrome, familial, 3, 615552; Neuropathy, hereditary sensory and autonomic, type VII, 615548; Hereditary sensory and autonomic neuropathy type VII
Paroxysmal central nervous system disorders v0.2 SCN10A Ellen McDonagh gene: SCN10A was added
gene: SCN10A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SCN10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN10A were set to 24776970; 27598514; 24813307; 28665811; 23115331; 26711856; 25316021; 24006052; 25250524
Phenotypes for gene: SCN10A were set to Painful small fibre neuropathy; SFN; Small fibre neuropathy; Familial episodic pain syndrome-2; Episodic pain syndrome, familial, 2, 615551
Paroxysmal central nervous system disorders v0.2 RYR1 Ellen McDonagh gene: RYR1 was added
gene: RYR1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.2 RETREG1 Ellen McDonagh gene: RETREG1 was added
gene: RETREG1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RETREG1 were set to 24327336; 21115472; 19838196
Phenotypes for gene: RETREG1 were set to Hereditary sensory and autonomic neuropathy; Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN 2B
Paroxysmal central nervous system disorders v0.2 RAB7A Ellen McDonagh gene: RAB7A was added
gene: RAB7A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAB7A were set to 15455439; 12545426; 17060578
Phenotypes for gene: RAB7A were set to Hereditary motor and sensory neuropathy IIB; Charcot-Marie-Tooth disease, type 2B, 600882; HSAN1/2B
Paroxysmal central nervous system disorders v0.2 PYGM Ellen McDonagh gene: PYGM was added
gene: PYGM was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to McArdle disease, 232600
Paroxysmal central nervous system disorders v0.2 PRRT2 Ellen McDonagh gene: PRRT2 was added
gene: PRRT2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRRT2 were set to 22744660; 22101681; 22120146; 22399141
Phenotypes for gene: PRRT2 were set to SEIZURES, BENIGN FAMILIAL INFANTILE, 2; episodic kinesigenic dyskinesia; EPISODIC KINESIGENIC DYSKINESIA 1; dystonia and occasionally hemiplegic migraine and epilepsy; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
Paroxysmal central nervous system disorders v0.2 PRDM12 Ellen McDonagh gene: PRDM12 was added
gene: PRDM12 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM12 were set to 26975306; 26005867
Phenotypes for gene: PRDM12 were set to Neuropathy, hereditary sensory and autonomic, type VIII, 616488; Hereditary sensory and autonomic neuropathy type VIII; HSAN 8
Paroxysmal central nervous system disorders v0.2 PNKD Ellen McDonagh gene: PNKD was added
gene: PNKD was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PNKD were set to 15262732; 15496428; 15824259
Phenotypes for gene: PNKD were set to PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
Paroxysmal central nervous system disorders v0.2 PER2 Ellen McDonagh gene: PER2 was added
gene: PER2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: PER2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PER2 were set to 11232563
Phenotypes for gene: PER2 were set to Advanced sleep phase syndrome, familial, 1, 604348
Paroxysmal central nervous system disorders v0.2 NTRK2 Ellen McDonagh gene: NTRK2 was added
gene: NTRK2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: NTRK2 was set to Unknown
Publications for gene: NTRK2 were set to 16702999; 15494731
Phenotypes for gene: NTRK2 were set to Obesity, hyperphagia, and developmental delay, 613886
Paroxysmal central nervous system disorders v0.2 NTRK1 Ellen McDonagh gene: NTRK1 was added
gene: NTRK1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTRK1 were set to 11668614; 8696348; 18077166
Phenotypes for gene: NTRK1 were set to HSAN 4; Hereditary sensory neuropathy type IV; Insensitivity to pain, congenital, with anhidrosis, 256800
Paroxysmal central nervous system disorders v0.2 NGF Ellen McDonagh gene: NGF was added
gene: NGF was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NGF were set to 20978020; 15131306; 26562335; 14976160
Phenotypes for gene: NGF were set to Congenital sensory neuropathy with selective loss of small myelinated fibers; Neuropathy, hereditary sensory and autonomic, type V, 608654; Hereditary sensory neuropathy type V; HSAN 5
Paroxysmal central nervous system disorders v0.2 NAGLU Ellen McDonagh gene: NAGLU was added
gene: NAGLU was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber
Mode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NAGLU were set to 12202988; 25818867
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920; Late-onset painful sensory neuropathy, AD
Paroxysmal central nervous system disorders v0.2 MT-ATP8 Ellen McDonagh gene: MT-ATP8 was added
gene: MT-ATP8 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL
Paroxysmal central nervous system disorders v0.2 MT-ATP6 Ellen McDonagh gene: MT-ATP6 was added
gene: MT-ATP6 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Paroxysmal central nervous system disorders v0.2 MPV17 Ellen McDonagh gene: MPV17 was added
gene: MPV17 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPV17 were set to 16582910; 23714749; 185990; 11431741; 16909392; 22508010
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Navajo neurohepatopathy; Pain insensitivity
Paroxysmal central nervous system disorders v0.2 MOG Ellen McDonagh gene: MOG was added
gene: MOG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber
Mode of inheritance for gene: MOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MOG were set to 21907016
Phenotypes for gene: MOG were set to Narcolepsy 7, 614250
Paroxysmal central nervous system disorders v0.2 KIF1A Ellen McDonagh gene: KIF1A was added
gene: KIF1A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1A were set to 25265257; 21820098
Phenotypes for gene: KIF1A were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213
Paroxysmal central nervous system disorders v0.2 KCNQ3 Ellen McDonagh gene: KCNQ3 was added
gene: KCNQ3 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ3 were set to Seizures, benign neonatal, type 2, 121201
Paroxysmal central nervous system disorders v0.2 KCNQ2 Ellen McDonagh gene: KCNQ2 was added
gene: KCNQ2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ2 were set to Myokymia, 121200; Seizures, benign neonatal, 1, 121200; Epileptic encephalopathy, early infantile, 7, 613720
Paroxysmal central nervous system disorders v0.2 KCNK18 Ellen McDonagh gene: KCNK18 was added
gene: KCNK18 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber
Mode of inheritance for gene: KCNK18 was set to
Publications for gene: KCNK18 were set to 20871611; 22355750
Phenotypes for gene: KCNK18 were set to MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Paroxysmal central nervous system disorders v0.2 KCNJ5 Ellen McDonagh gene: KCNJ5 was added
gene: KCNJ5 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber
Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal central nervous system disorders v0.2 KCNJ2 Ellen McDonagh gene: KCNJ2 was added
gene: KCNJ2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ2 were set to 16217063
Phenotypes for gene: KCNJ2 were set to ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Andersen syndrome; Hypokalemic Periodic Paralysis, Type 2
Paroxysmal central nervous system disorders v0.2 KCNJ18 Ellen McDonagh gene: KCNJ18 was added
gene: KCNJ18 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: KCNJ18 was set to
Publications for gene: KCNJ18 were set to 20074522
Phenotypes for gene: KCNJ18 were set to Hypokalemic Periodic Paralysis, Type 1
Paroxysmal central nervous system disorders v0.2 KCNA1 Ellen McDonagh gene: KCNA1 was added
gene: KCNA1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNA1 were set to 17575281
Phenotypes for gene: KCNA1 were set to Episodic Ataxia; EPISODIC ATAXIA, TYPE 1; Episodic ataxia/myokymia syndrome, 160120; EA1; Myokymia; myokymia with periodic ataxia; Episodic Ataxia, Type 1
Paroxysmal central nervous system disorders v0.2 ISCA-37468-Loss Ellen McDonagh Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females)
Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621
Phenotypes for Region: ISCA-37468-Loss were set to short stature; severe intellectual disability; lip-smacking; exiting behavior; autistic features; hypotonia; stereotypical hand movements; eleveated serotonin levels; episodes of sudden loss of muscle tone
Paroxysmal central nervous system disorders v0.2 HSPG2 Ellen McDonagh gene: HSPG2 was added
gene: HSPG2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome, type 1, 255800
Paroxysmal central nervous system disorders v0.2 HLA-DQB1 Ellen McDonagh gene: HLA-DQB1 was added
gene: HLA-DQB1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: HLA-DQB1 was set to Unknown
Publications for gene: HLA-DQB1 were set to 12473762; 27305985; 27081540; 26283305; 26126836; 27253765
Phenotypes for gene: HLA-DQB1 were set to Kleine-Levin hibernation syndrome 148840; narcolepsy
Paroxysmal central nervous system disorders v0.2 HCRT Ellen McDonagh gene: HCRT was added
gene: HCRT was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: HCRT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HCRT were set to 10973318
Phenotypes for gene: HCRT were set to ?Narcolepsy 1, 161400
Paroxysmal central nervous system disorders v0.2 GLRB Ellen McDonagh gene: GLRB was added
gene: GLRB was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRB were set to 23238346; 11929858; 21391991
Phenotypes for gene: GLRB were set to 614619 HYPEREKPLEXIA 2
Paroxysmal central nervous system disorders v0.2 GLRA1 Ellen McDonagh gene: GLRA1 was added
gene: GLRA1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GLRA1 were set to 20301437
Phenotypes for gene: GLRA1 were set to 149400 HYPEREKPLEXIA, HEREDITARY 1
Paroxysmal central nervous system disorders v0.2 EXT1 Ellen McDonagh gene: EXT1 was added
gene: EXT1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EXT1 were set to 2788404; Journal Sleep Research (2012), 21(Suppl 1), P891
Phenotypes for gene: EXT1 were set to Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family)
Mode of pathogenicity for gene: EXT1 was set to Other - please provide details in the comments
Paroxysmal central nervous system disorders v0.2 ELP1 Ellen McDonagh gene: ELP1 was added
gene: ELP1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELP1 were set to 11179021; 11179008; 17985250; 8102296
Phenotypes for gene: ELP1 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Familial dysautonomia; Dysautonomia, familial, 223900
Paroxysmal central nervous system disorders v0.2 EIF3G Ellen McDonagh gene: EIF3G was added
gene: EIF3G was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: EIF3G was set to Unknown
Publications for gene: EIF3G were set to 25669430
Phenotypes for gene: EIF3G were set to Narcolepsy
Paroxysmal central nervous system disorders v0.2 DNMT1 Ellen McDonagh gene: DNMT1 was added
gene: DNMT1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNMT1 were set to 23904686; 22328086; 24709307
Phenotypes for gene: DNMT1 were set to Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116; CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN
Paroxysmal central nervous system disorders v0.2 DMPK Ellen McDonagh gene: DMPK was added
gene: DMPK was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DMPK were set to MYOTONIC DYSTROPHY 1 (DM1); Myotonia
Paroxysmal central nervous system disorders v0.2 CSNK1D Ellen McDonagh gene: CSNK1D was added
gene: CSNK1D was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber
Mode of inheritance for gene: CSNK1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSNK1D were set to 25660813; 23636092
Phenotypes for gene: CSNK1D were set to Advanced sleep-phase syndrome, familial, 2, 615224
Paroxysmal central nervous system disorders v0.2 CNBP Ellen McDonagh gene: CNBP was added
gene: CNBP was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: CNBP was set to Other - please specifiy in evaluation comments
Phenotypes for gene: CNBP were set to Myotonia; MYOTONIC DYSTROPHY 2 (DM2)
Paroxysmal central nervous system disorders v0.2 CLTCL1 Ellen McDonagh gene: CLTCL1 was added
gene: CLTCL1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: CLTCL1 was set to Unknown
Publications for gene: CLTCL1 were set to 26068709
Phenotypes for gene: CLTCL1 were set to Congenital insensitivity to pain
Paroxysmal central nervous system disorders v0.2 CLCN1 Ellen McDonagh gene: CLCN1 was added
gene: CLCN1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CLCN1 were set to 11840191; 18337100; 22649220
Phenotypes for gene: CLCN1 were set to Myotonia levior, recessive; Myotonia congenita, recessive, 255700; Hyperkalemic Periodic Paralysis; Myotonia Congenita; Myotonia; Myotonia congenita, dominant, 160800
Paroxysmal central nervous system disorders v0.2 CCT5 Ellen McDonagh gene: CCT5 was added
gene: CCT5 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCT5 were set to 28623285; 12874111; 16399879; 25124038
Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HSAN with spastic paraplegia
Paroxysmal central nervous system disorders v0.2 CACNB4 Ellen McDonagh gene: CACNB4 was added
gene: CACNB4 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNB4 were set to 10762541
Phenotypes for gene: CACNB4 were set to {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682; Episodic ataxia, type 5, 613855; Episodic Ataxia; EPISODIC ATAXIA, TYPE 5; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682
Paroxysmal central nervous system disorders v0.2 CACNA1S Ellen McDonagh gene: CACNA1S was added
gene: CACNA1S was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1S were set to 15534250; 18835861
Phenotypes for gene: CACNA1S were set to Hypokalemic periodic paralysis, type 1, 170400
Paroxysmal central nervous system disorders v0.2 CACNA1A Ellen McDonagh gene: CACNA1A was added
gene: CACNA1A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1A were set to 17575281; 21734179
Phenotypes for gene: CACNA1A were set to Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500; EA2; Migraine, familial hemiplegic, 1, 141500; Episodic Ataxia, Type 2; familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500; Spinocerebellar ataxia 6, 183086; Episodic ataxia, type 2, 108500
Paroxysmal central nervous system disorders v0.2 ATP7B Ellen McDonagh gene: ATP7B was added
gene: ATP7B was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 20301685
Phenotypes for gene: ATP7B were set to Wilson disease 277900
Paroxysmal central nervous system disorders v0.2 ATP2A1 Ellen McDonagh gene: ATP2A1 was added
gene: ATP2A1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP2A1 were set to 9367679; 884119; 8841193
Phenotypes for gene: ATP2A1 were set to Brody myopathy 601003
Paroxysmal central nervous system disorders v0.2 ATP1A3 Ellen McDonagh gene: ATP1A3 was added
gene: ATP1A3 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A3 were set to 22842232; 22850527
Phenotypes for gene: ATP1A3 were set to DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820
Paroxysmal central nervous system disorders v0.2 ATL3 Ellen McDonagh gene: ATL3 was added
gene: ATL3 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ATL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATL3 were set to 24736309; 24459106
Phenotypes for gene: ATL3 were set to Neuropathy, hereditary sensory, type IF, 615632; HSN1F
Paroxysmal central nervous system disorders v0.2 ATL1 Ellen McDonagh gene: ATL1 was added
gene: ATL1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATL1 were set to 21194679; 22340599
Phenotypes for gene: ATL1 were set to Hereditary spastic paraplegia, 182600; Hereditary sensory neuropathy; HSN1D; Neuropathy, hereditary sensory, type ID, 613708
Paroxysmal central nervous system disorders v0.2 AKR1C2 Ellen McDonagh gene: AKR1C2 was added
gene: AKR1C2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: AKR1C2 was set to Unknown
Phenotypes for gene: AKR1C2 were set to Obesity, hyperphagia, and developmental delay
Paroxysmal central nervous system disorders v0.2 ADCY5 Ellen McDonagh gene: ADCY5 was added
gene: ADCY5 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADCY5 were set to 11310626; 24700542
Phenotypes for gene: ADCY5 were set to Familial dyskinesia 606703; Dyskinesia, familial, with facial myokymia, 606703
Paroxysmal central nervous system disorders v0.0 Ellen McDonagh Added Panel Paroxysmal neurological disorders, pain disorders and sleep disorders
Set panel types to: GMS Rare Disease