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Hereditary neuropathy or pain disorder v0.49 DNAJC3 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.49 DNAJC3 Louise Daugherty Gene: dnajc3 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.48 CYP27A1 Louise Daugherty changed review comment from: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca). Although Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis, it was noted that it was good to pick up early; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca). Although Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis, it was noted that it was good to pick up early so advised Green rating over Amber for R57 panel
Hereditary neuropathy or pain disorder v0.48 CYP27A1 Louise Daugherty edited their review of gene: CYP27A1: Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.48 CYP27A1 Louise Daugherty changed review comment from: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca). Although Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis, it was noted that it was good to pick up early
Hereditary neuropathy or pain disorder v0.48 CYP27A1 Louise Daugherty Classified gene: CYP27A1 as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.48 CYP27A1 Louise Daugherty Gene: cyp27a1 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.47 DEGS1 Louise Daugherty commented on gene: DEGS1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - leukodystrophy with neuropathy
Hereditary neuropathy or pain disorder v0.47 DEGS1 Louise Daugherty Classified gene: DEGS1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.47 DEGS1 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.47 DEGS1 Louise Daugherty Gene: degs1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.46 DARS2 Louise Daugherty commented on gene: DARS2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - mitochondrial / Mitochondrial gene - extension to phenotype to include isolated neuropathy
Hereditary neuropathy or pain disorder v0.46 DARS2 Louise Daugherty Classified gene: DARS2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.46 DARS2 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.46 DARS2 Louise Daugherty Gene: dars2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.45 CYP27A1 Louise Daugherty commented on gene: CYP27A1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis
Hereditary neuropathy or pain disorder v0.45 CYP27A1 Louise Daugherty Classified gene: CYP27A1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.45 CYP27A1 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.45 CYP27A1 Louise Daugherty Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.44 CTDP1 Louise Daugherty commented on gene: CTDP1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype (dysmorphic, cataract) - founder mutation in Roma populations, intronic
Hereditary neuropathy or pain disorder v0.44 CTDP1 Louise Daugherty Classified gene: CTDP1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.44 CTDP1 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.44 CTDP1 Louise Daugherty Gene: ctdp1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.43 CPOX Louise Daugherty Classified gene: CPOX as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.43 CPOX Louise Daugherty Gene: cpox has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.42 CPOX Louise Daugherty edited their review of gene: CPOX: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - porphyria, can present similar to AIP according to Alex Promote to Green as management implications; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.42 CPOX Louise Daugherty Classified gene: CPOX as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.42 CPOX Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.42 CPOX Louise Daugherty Gene: cpox has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.41 COA7 Louise Daugherty commented on gene: COA7: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope - ataxia with neuropathy / Broader phenotype - SCA with axonal neuropathy
Hereditary neuropathy or pain disorder v0.41 COA7 Louise Daugherty Classified gene: COA7 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.41 COA7 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.41 COA7 Louise Daugherty Gene: coa7 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.40 WARS Louise Daugherty edited their review of gene: WARS: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green/ Additional evidence: 3 cases in literature with same variant on diff haplotypes and postulated dom neg effect; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.40 VRK1 Louise Daugherty changed review comment from: Gene rated Green: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)
New evidence/re-evaluation of evidence - promotion to Green / Additional evidence: PMID:30847374 cites 2 other cases with neuropathy & unpublished evidence; to: Gene rated Amber: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)
New evidence/re-evaluation of evidence - promotion to Green / Additional evidence: PMID:30847374 cites 2 other cases with neuropathy & unpublished evidence.
Hereditary neuropathy or pain disorder v0.40 VRK1 Louise Daugherty Classified gene: VRK1 as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.40 VRK1 Louise Daugherty Gene: vrk1 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.39 VRK1 Louise Daugherty commented on gene: VRK1: Gene rated Green: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)
New evidence/re-evaluation of evidence - promotion to Green / Additional evidence: PMID:30847374 cites 2 other cases with neuropathy & unpublished evidence
Hereditary neuropathy or pain disorder v0.39 TRIM2 Louise Daugherty Classified gene: TRIM2 as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.39 TRIM2 Louise Daugherty Gene: trim2 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.38 TRIM2 Louise Daugherty commented on gene: TRIM2: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green / Consider for Green with functional data? 2 families with missense variants; no new publications since 2015
Hereditary neuropathy or pain disorder v0.38 SYT2 Louise Daugherty changed review comment from: Gene rated Red : From feedback from Genomics England Clinical team (Anna de Burca). Congenital myasthenia gene; currently Green on Congenital myaesthenic syndrome Panel so recommend leave as Red on the R78 panel, but promote to Green on larger panel for WGS; to: Gene rated Red : From feedback from Genomics England Clinical team (Anna de Burca). 3 families and functional data according to Natalie's review but more of a myastheia phenotype but overlaps with CMT . Congenital myasthenia gene; currently Green on Congenital myaesthenic syndrome Panel so recommend leave as Red on the R78 panel, but promote to Green on larger panel for WGS.
Hereditary neuropathy or pain disorder v0.38 SYT2 Louise Daugherty Classified gene: SYT2 as Red List (low evidence)
Hereditary neuropathy or pain disorder v0.38 SYT2 Louise Daugherty Gene: syt2 has been classified as Red List (Low Evidence).
Hereditary neuropathy or pain disorder v0.37 SYT2 Louise Daugherty changed review comment from: Gene rated Red : From feedback from Genomics England Clinical team (Anna de Burca). Congenital myasthenia gene; currently Red on congenital myasthenic syndrome panel but Oxford have given Green review for that panel so suggest promote on the congenital myasthenic syndrome panel, leave as Red on the R78 panel, but promote to Green on larger panel for WGS; to: Gene rated Red : From feedback from Genomics England Clinical team (Anna de Burca). Congenital myasthenia gene; currently Green on Congenital myaesthenic syndrome Panel so recommend leave as Red on the R78 panel, but promote to Green on larger panel for WGS
Hereditary neuropathy or pain disorder v0.37 SYT2 Louise Daugherty commented on gene: SYT2: Gene rated Red : From feedback from Genomics England Clinical team (Anna de Burca). Congenital myasthenia gene; currently Red on congenital myasthenic syndrome panel but Oxford have given Green review for that panel so suggest promote on the congenital myasthenic syndrome panel, leave as Red on the R78 panel, but promote to Green on larger panel for WGS
Hereditary neuropathy or pain disorder v0.37 PRNP Louise Daugherty changed review comment from: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype. AlexRossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that AR provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel; to: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype. Alex Rossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that Alex Rossor provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel
Hereditary neuropathy or pain disorder v0.37 SETX Louise Daugherty changed review comment from: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / James Polke Red review but no comment?? Pretty rare for this to present as a dominant juvenile ALS phenotype but three different mutations reported. Probably reasonable to keep as green but presumably in ALS panel; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / James Polke Red review but no comment?? Pretty rare for this to present as a dominant juvenile ALS phenotype but three different mutations reported. Probably reasonable to keep as green but presumably in ALS panel. SETX had been reviewed by James Polke as Red but he had not left a comment, since he was not on the call, agreed that this gene be left as Green unless James provides an explanation for his Red review
Hereditary neuropathy or pain disorder v0.37 SETX Louise Daugherty changed review comment from: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / James Polke Red review but no comment?? Pretty rare for this to present as a dominant juvenile ALS phenotype but three different mutations reported. Probably reasonable to keep as green but presumably in ALS panel; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / James Polke Red review but no comment?? Pretty rare for this to present as a dominant juvenile ALS phenotype but three different mutations reported. Probably reasonable to keep as green but presumably in ALS panel
Hereditary neuropathy or pain disorder v0.37 PRNP Louise Daugherty changed review comment from: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype; to: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype. AlexRossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that AR provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel
Hereditary neuropathy or pain disorder v0.37 PRNP Louise Daugherty changed review comment from: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
AlexRossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that AR provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel; to: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.37 SLC5A7 Louise Daugherty edited their review of gene: SLC5A7: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green? / Limited evidence? See Natalie review but AR says multiple families; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.37 SETX Louise Daugherty edited their review of gene: SETX: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / James Polke Red review but no comment?? Pretty rare for this to present as a dominant juvenile ALS phenotype but three different mutations reported. Probably reasonable to keep as green but presumably in ALS panel; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.37 SBF1 Louise Daugherty edited their review of gene: SBF1: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green / New evidence: 1 more family - promote to Green; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.37 PRNP Louise Daugherty edited their review of gene: PRNP: Changed rating: RED
Hereditary neuropathy or pain disorder v0.37 PRNP Louise Daugherty commented on gene: PRNP: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype
Hereditary neuropathy or pain disorder v0.37 PMP2 Louise Daugherty edited their review of gene: PMP2: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green / New evidence - green; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.37 NEFH Louise Daugherty commented on gene: NEFH: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green? / New CMT gene, 2 families & functional evidence in OMIM
Hereditary neuropathy or pain disorder v0.37 NEFH Louise Daugherty edited their review of gene: NEFH: Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.37 MCM3AP Louise Daugherty Publications for gene: MCM3AP were set to
Hereditary neuropathy or pain disorder v0.36 MCM3AP Louise Daugherty edited their review of gene: MCM3AP: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) New evidence/re-evaluation of evidence - promotion to Green/ New evidence - PMID:28633435; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.36 GNB4 Louise Daugherty edited their review of gene: GNB4: Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.36 GNB4 Louise Daugherty commented on gene: GNB4: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green / CMT - new evidence Agree promote to Green
Hereditary neuropathy or pain disorder v0.36 DST Louise Daugherty edited their review of gene: DST: Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.36 DST Louise Daugherty commented on gene: DST: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) . New evidence/re-evaluation of evidence - promotion to Green / New evidence - upgrade to Green? New evidence promote to Green
Hereditary neuropathy or pain disorder v0.36 DRP2 Louise Daugherty commented on gene: DRP2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green? 2 cases but functional studies don't show features of neuropathy - Amber? More evidence needed
Hereditary neuropathy v1.351 DNAJB2 Louise Daugherty commented on gene: DNAJB2: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).New evidence/re-evaluation of evidence - promotion to Green / Reviewed as Amber due to single reported variant in 2016, Natalie says no publications since 2016 but Alex says now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases
Hereditary neuropathy v1.351 DNAJB2 Louise Daugherty Classified gene: DNAJB2 as Green List (high evidence)
Hereditary neuropathy v1.351 DNAJB2 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy v1.351 DNAJB2 Louise Daugherty Gene: dnajb2 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.36 DNAJB2 Louise Daugherty commented on gene: DNAJB2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)/ Green for larger panel only as main phenotype is distal SMA; AR to provide further references
Hereditary neuropathy or pain disorder v0.36 DCTN1 Louise Daugherty edited their review of gene: DCTN1: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) . New evidence/re-evaluation of evidence - promotion to Green / New evidence - upgrade to Green; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.36 DCTN1 Louise Daugherty Classified gene: DCTN1 as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.36 DCTN1 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.36 DCTN1 Louise Daugherty Gene: dctn1 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.35 ATP1A1 Louise Daugherty edited their review of gene: ATP1A1: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green / New gene - 7 unrelated families (2018) Agree promote to Green; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.35 ARHGEF10 Louise Daugherty commented on gene: ARHGEF10: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / One published family plus functional evidence (NB. Bristol review although Green acknowledges limited evidence) - demote
Hereditary neuropathy or pain disorder v0.35 ATL3 Louise Daugherty commented on gene: ATL3: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / Limited evidence highlighted by Natalie - same variant in 2 families and other variant didn't segregate - downgrade to Amber? Agree downgrade due to lack of evidence
Hereditary neuropathy or pain disorder v0.35 CNTNAP1 Louise Daugherty commented on gene: CNTNAP1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - congenital hypomyelinating neuropathy, arthrogryposis, severe dev delay
Hereditary neuropathy or pain disorder v0.35 CNTNAP1 Louise Daugherty Classified gene: CNTNAP1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.35 CNTNAP1 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.35 CNTNAP1 Louise Daugherty Gene: cntnap1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.34 CD59 Louise Daugherty commented on gene: CD59: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype: haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy
Hereditary neuropathy or pain disorder v0.34 CD59 Louise Daugherty Classified gene: CD59 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.34 CD59 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.34 CD59 Louise Daugherty Gene: cd59 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.33 C12orf65 Louise Daugherty Classified gene: C12orf65 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.33 C12orf65 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.33 C12orf65 Louise Daugherty Gene: c12orf65 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.32 BCKDHB Louise Daugherty commented on gene: BCKDHB: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - Maple syrup urine disease
Hereditary neuropathy or pain disorder v0.32 BCKDHB Louise Daugherty Classified gene: BCKDHB as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.32 BCKDHB Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.32 BCKDHB Louise Daugherty Gene: bckdhb has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.31 BAG3 Louise Daugherty commented on gene: BAG3: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - myopathy with neuropathy / Broader phenotype - not reviewed by Alex in this round but previously reviewed as Green; myofibrillar myopathy, sufficient evidence for neuropathy?
Hereditary neuropathy or pain disorder v0.31 BAG3 Louise Daugherty Classified gene: BAG3 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.31 BAG3 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.31 BAG3 Louise Daugherty Gene: bag3 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.30 B4GALNT1 Louise Daugherty commented on gene: B4GALNT1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - HSP with neuropathy / Broader phenotype: HSP gene but can be associated with neuropathy.
Hereditary neuropathy or pain disorder v0.30 B4GALNT1 Louise Daugherty Classified gene: B4GALNT1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.30 B4GALNT1 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.30 B4GALNT1 Louise Daugherty Gene: b4galnt1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.29 ATM Louise Daugherty commented on gene: ATM: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy / Broader phenotype - biallelic only (cancer risk)
Hereditary neuropathy or pain disorder v0.29 ATM Louise Daugherty Classified gene: ATM as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.29 ATM Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.29 ATM Louise Daugherty Gene: atm has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.28 ARSA Louise Daugherty commented on gene: ARSA: Gene rated as Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Metachromatic leukodystrophy - broader phenotype
Hereditary neuropathy or pain disorder v0.28 ARSA Louise Daugherty Classified gene: ARSA as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.28 ARSA Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.28 ARSA Louise Daugherty Gene: arsa has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.27 APTX Louise Daugherty commented on gene: APTX: Gene remains rated as Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy / Broader phenotype: Ataxia with oculomotor apraxia
Hereditary neuropathy or pain disorder v0.27 APTX Louise Daugherty edited their review of gene: APTX: Changed rating: AMBER
Hereditary neuropathy or pain disorder v0.27 APTX Louise Daugherty Classified gene: APTX as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.27 APTX Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.27 APTX Louise Daugherty Gene: aptx has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.26 APOA1 Louise Daugherty Classified gene: APOA1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.26 APOA1 Louise Daugherty Gene: apoa1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.25 APOA1 Louise Daugherty commented on gene: APOA1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.25 APOA1 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).. Extension of panel scope - minor feature. Amyloidosis - most cases visceral amyloidosis but 1 family with neurological phenotype- rate Red.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Gene remains rated as Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).. Extension of panel scope - minor feature. Amyloidosis - most cases visceral amyloidosis but 1 family with neurological phenotype- rate Red.
Hereditary neuropathy or pain disorder v0.25 APOA1 Louise Daugherty edited their review of gene: APOA1: Changed rating: AMBER
Hereditary neuropathy or pain disorder v0.25 AP1S1 Louise Daugherty Classified gene: AP1S1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.25 AP1S1 Louise Daugherty Gene: ap1s1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.24 AP1S1 Louise Daugherty commented on gene: AP1S1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.24 AP1S1 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma - OMIM 4 families from Quebec with same splice site mutation - rated Red
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Gene remains rated as Amber: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma - OMIM 4 families from Quebec with same splice site mutation
Hereditary neuropathy or pain disorder v0.24 AP1S1 Louise Daugherty edited their review of gene: AP1S1: Changed rating: AMBER
Hereditary neuropathy or pain disorder v0.24 AGXT Louise Daugherty edited their review of gene: AGXT: Changed rating: AMBER
Hereditary neuropathy or pain disorder v0.24 AGXT Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Gene well established to cause PH1 Primary Hyperoxaluria (green). 2 reports of neuropathy - enough cases?- rated Red
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Gene remains rated Amber: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Gene well established to cause PH1 Primary Hyperoxaluria (green). 2 reports of neuropathy - enough cases?
Hereditary neuropathy or pain disorder v0.24 AGXT Louise Daugherty Classified gene: AGXT as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.24 AGXT Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.24 AGXT Louise Daugherty Gene: agxt has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.23 ABHD12 Louise Daugherty edited their review of gene: ABHD12: Changed rating: AMBER
Hereditary neuropathy or pain disorder v0.23 AGTPBP1 Louise Daugherty edited their review of gene: AGTPBP1: Changed rating: AMBER
Hereditary neuropathy or pain disorder v0.23 ABHD12 Louise Daugherty Classified gene: ABHD12 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.23 ABHD12 Louise Daugherty Gene: abhd12 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.22 AGTPBP1 Louise Daugherty Classified gene: AGTPBP1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.22 AGTPBP1 Louise Daugherty Gene: agtpbp1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.21 AGTPBP1 Louise Daugherty commented on gene: AGTPBP1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.21 AGTPBP1 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).Extension of panel scope - syndrome with non-neurological features / Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy - complex phenotype - overlap with ID - rated Red.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).Extension of panel scope - syndrome with non-neurological features / Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy - complex phenotype - overlap with ID
Hereditary neuropathy or pain disorder v0.21 ABCA1 Louise Daugherty commented on gene: ABCA1: The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/
Hereditary neuropathy or pain disorder v0.21 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/

; to: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
Hereditary neuropathy or pain disorder v0.21 ABHD12 Louise Daugherty changed review comment from: Gene remains rated as Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia - rated Red.
; to: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
Hereditary neuropathy or pain disorder v0.21 ABHD12 Louise Daugherty commented on gene: ABHD12: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.21 ABHD12 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia - rated Red.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Gene remains rated as Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia - rated Red.
Childhood onset dystonia, chorea or related movement disorder v0.7 WDR45 Ellen McDonagh Source PanelApp was added to WDR45.
Mode of inheritance for gene WDR45 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes beta-propeller protein-associated neurodegeneration; Dystonia; Neurodegeneration with brain iron accumulation 5 300894 for gene: WDR45
Publications for gene WDR45 were changed from to 22892189; 23435086; 23176820
Childhood onset dystonia, chorea or related movement disorder v0.7 PDHA1 Ellen McDonagh Source PanelApp was added to PDHA1.
Mode of inheritance for gene PDHA1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Pyruvate dehydrogenase E1-alpha deficiency 312170 for gene: PDHA1
Childhood onset dystonia, chorea or related movement disorder v0.7 OFD1 Ellen McDonagh Source PanelApp was added to OFD1.
Mode of inheritance for gene OFD1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Joubert syndrome 10; X-linked Joubert syndrome; Orofaciodigital syndrome I for gene: OFD1
Publications for gene OFD1 were changed from to 22353940; 19800048
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFA1 Ellen McDonagh Source PanelApp was added to NDUFA1.
Mode of inheritance for gene NDUFA1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Mitochondrial complex I deficiency 252010 for gene: NDUFA1
Publications for gene NDUFA1 were changed from to 28247337; 17262856; 21596602; 27604308; 19185523
Childhood onset dystonia, chorea or related movement disorder v0.7 MAOA Ellen McDonagh Source PanelApp was added to MAOA.
Mode of inheritance for gene MAOA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Brunner syndrome, 300615; Monoamine oxidase A deficiency for gene: MAOA
Publications for gene MAOA were changed from to 8211186; 27830117; 24169519
Childhood onset dystonia, chorea or related movement disorder v0.7 RAB39B Ellen McDonagh Source PanelApp was added to RAB39B.
Mode of inheritance for gene RAB39B was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Waisman syndrome 311510 for gene: RAB39B
Publications for gene RAB39B were changed from to 27448726; 26399558; 27838047; 25434005; 27943471
Childhood onset dystonia, chorea or related movement disorder v0.7 BCAP31 Ellen McDonagh Source PanelApp was added to BCAP31.
Mode of inheritance for gene BCAP31 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS; Deafness, dystonia and cerebellar hypomyelination, 300475 for gene: BCAP31
Publications for gene BCAP31 were changed from to 28332767; 24011989
Childhood onset dystonia, chorea or related movement disorder v0.7 AP1S2 Ellen McDonagh Source PanelApp was added to AP1S2.
Mode of inheritance for gene AP1S2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Dystonia; Mental retardation, X-linked syndromic 5 304340 for gene: AP1S2
Publications for gene AP1S2 were changed from to 23756445; 17617514; 18428203
Childhood onset dystonia, chorea or related movement disorder v0.7 ZSWIM6 Ellen McDonagh Source PanelApp was added to ZSWIM6.
Mode of inheritance for gene ZSWIM6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene ZSWIM6 was changed from to Other - please provide details in the comments
Added phenotypes Acromelic frontonasal dysostosis 603671 for gene: ZSWIM6
Publications for gene ZSWIM6 were changed from to 25105228
Childhood onset dystonia, chorea or related movement disorder v0.7 YY1 Ellen McDonagh Source PanelApp was added to YY1.
Mode of inheritance for gene YY1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Gabriele-de Vries syndrome 617557 for gene: YY1
Publications for gene YY1 were changed from to 28575647
Childhood onset dystonia, chorea or related movement disorder v0.7 XPR1 Ellen McDonagh Source PanelApp was added to XPR1.
Mode of inheritance for gene XPR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Basal ganglia calcification, idiopathic, 6 616413 for gene: XPR1
Publications for gene XPR1 were changed from to 25938945
Childhood onset dystonia, chorea or related movement disorder v0.7 TUBA1A Ellen McDonagh Source PanelApp was added to TUBA1A.
Mode of inheritance for gene TUBA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Lissencephaly 3 611603 for gene: TUBA1A
Childhood onset dystonia, chorea or related movement disorder v0.7 TOR1A Ellen McDonagh Source PanelApp was added to TOR1A.
Mode of inheritance for gene TOR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia; Dystonia-1, torsion, 128100 for gene: TOR1A
Publications for gene TOR1A were changed from to 20301334; 11523564; 17503336; 20301665; 9288096; 16537570
Childhood onset dystonia, chorea or related movement disorder v0.7 THAP1 Ellen McDonagh Source PanelApp was added to THAP1.
Mode of inheritance for gene THAP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dystonia 6, torsion, 602629; Dystonia for gene: THAP1
Publications for gene THAP1 were changed from to 20301334
Childhood onset dystonia, chorea or related movement disorder v0.7 SLC20A2 Ellen McDonagh Source PanelApp was added to SLC20A2.
Mode of inheritance for gene SLC20A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Basal ganglia calcification, idiopathic, 1 213600; Dystonia for gene: SLC20A2
Childhood onset dystonia, chorea or related movement disorder v0.7 SLC1A3 Ellen McDonagh Source PanelApp was added to SLC1A3.
Mode of inheritance for gene SLC1A3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes EPISODIC ATAXIA, TYPE 6 for gene: SLC1A3
Publications for gene SLC1A3 were changed from to 19139306; 16116111; 27829685
Childhood onset dystonia, chorea or related movement disorder v0.7 SCN8A Ellen McDonagh Source PanelApp was added to SCN8A.
Mode of inheritance for gene SCN8A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes paroxysmal kinesigenic dyskinesias; epilepsy for gene: SCN8A
Publications for gene SCN8A were changed from to 26677014
Childhood onset dystonia, chorea or related movement disorder v0.7 SCN1A Ellen McDonagh Source PanelApp was added to SCN1A.
Mode of inheritance for gene SCN1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3; Dravet syndrome for gene: SCN1A
Publications for gene SCN1A were changed from to 19332696; 16054936
Childhood onset dystonia, chorea or related movement disorder v0.7 PRRT2 Ellen McDonagh Source PanelApp was added to PRRT2.
Mode of inheritance for gene PRRT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; SEIZURES, BENIGN FAMILIAL INFANTILE, 2; Episodic kinesigenic dyskinesia 1, 128200; dystonia and occasionally hemiplegic migraine and epilepsy; Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; episodic kinesigenic dyskinesia for gene: PRRT2
Publications for gene PRRT2 were changed from to 22744660; 20301334; 22399141; 22120146; 22101681
Childhood onset dystonia, chorea or related movement disorder v0.7 PRNP Ellen McDonagh Source PanelApp was added to PRNP.
Mode of inheritance for gene PRNP was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Creutzfeldt-Jakob disease 123400; Huntington disease-like 1 603218; Gerstmann-Straussler disease 137440; Cerebral amyloid angiopathy, PRNP-related 137440 for gene: PRNP
Childhood onset dystonia, chorea or related movement disorder v0.7 PNKD Ellen McDonagh Source PanelApp was added to PNKD.
Mode of inheritance for gene PNKD was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Familial Paroxysmal Nonkinesigenic Dyskinesia; PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; Paroxysmal nonkinesigenic dyskinesia, 118800 for gene: PNKD
Publications for gene PNKD were changed from to 15496428; 20301334; 15262732; 15824259
Childhood onset dystonia, chorea or related movement disorder v0.7 PDGFRB Ellen McDonagh Source PanelApp was added to PDGFRB.
Mode of inheritance for gene PDGFRB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dystonia; Basal ganglia calcification, idiopathic, 4 615007 for gene: PDGFRB
Publications for gene PDGFRB were changed from to 27984190; 23255827; 26129893; 25292412
Childhood onset dystonia, chorea or related movement disorder v0.7 PDGFB Ellen McDonagh Source PanelApp was added to PDGFB.
Mode of inheritance for gene PDGFB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Basal ganglia calcification, idiopathic, 5 615483 for gene: PDGFB
Publications for gene PDGFB were changed from to 26129893
Childhood onset dystonia, chorea or related movement disorder v0.7 NKX2-1 Ellen McDonagh Source PanelApp was added to NKX2-1.
Added phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978; Chorea, hereditary benign 118700 for gene: NKX2-1
Publications for gene NKX2-1 were changed from to 24555207
Childhood onset dystonia, chorea or related movement disorder v0.7 KCNQ3 Ellen McDonagh Source PanelApp was added to KCNQ3.
Mode of inheritance for gene KCNQ3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Seizures, benign neonatal, type 2, 121201 for gene: KCNQ3
Childhood onset dystonia, chorea or related movement disorder v0.7 KCNQ2 Ellen McDonagh Source PanelApp was added to KCNQ2.
Mode of inheritance for gene KCNQ2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Myokymia, 121200; Dystonia for gene: KCNQ2
Childhood onset dystonia, chorea or related movement disorder v0.7 KCNA1 Ellen McDonagh Source PanelApp was added to KCNA1.
Mode of inheritance for gene KCNA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes EPISODIC ATAXIA, TYPE 1; myokymia with periodic ataxia for gene: KCNA1
Publications for gene KCNA1 were changed from to 17575281
Childhood onset dystonia, chorea or related movement disorder v0.7 IFIH1 Ellen McDonagh Source PanelApp was added to IFIH1.
Mode of inheritance for gene IFIH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Aicardi-Goutieres syndrome 7 615846 for gene: IFIH1
Childhood onset dystonia, chorea or related movement disorder v0.7 GNAL Ellen McDonagh Source PanelApp was added to GNAL.
Added phenotypes Dystonia 25, 615073 for gene: GNAL
Publications for gene GNAL were changed from to 25847575; 20301334; 24151159; 23222958; 26810727; 24535567; 27222887; 23759320; 25382112; 24408567; 26506956; 23449625; 24729450; 26725140; 26365774; 27123488; 27093447
Childhood onset dystonia, chorea or related movement disorder v0.7 FOXP2 Ellen McDonagh Source PanelApp was added to FOXP2.
Mode of inheritance for gene FOXP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Speech-language disorder-1 602081 for gene: FOXP2
Publications for gene FOXP2 were changed from to 15877281; 22434823; 11586359
Childhood onset dystonia, chorea or related movement disorder v0.7 CACNB4 Ellen McDonagh Source PanelApp was added to CACNB4.
Mode of inheritance for gene CACNB4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EPISODIC ATAXIA, TYPE 5 for gene: CACNB4
Publications for gene CACNB4 were changed from to 10762541
Childhood onset dystonia, chorea or related movement disorder v0.7 CACNA1A Ellen McDonagh Source PanelApp was added to CACNA1A.
Mode of inheritance for gene CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes familial hemiplegic migraine type 1, 141500; Dystonia; episodic ataxia type 2 (EA2), 108500 for gene: CACNA1A
Publications for gene CACNA1A were changed from to 21734179; 17575281
Childhood onset dystonia, chorea or related movement disorder v0.7 ATP1A3 Ellen McDonagh Source PanelApp was added to ATP1A3.
Mode of inheritance for gene ATP1A3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Rapid-Onset Dystonia-Parkinsonism; Dystonia-12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; DYSTONIA 12, 128235 for gene: ATP1A3
Publications for gene ATP1A3 were changed from to 22850527; 22842232; 20301334
Childhood onset dystonia, chorea or related movement disorder v0.7 ATP1A2 Ellen McDonagh Source PanelApp was added to ATP1A2.
Mode of inheritance for gene ATP1A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290; Dystonia; migraine for gene: ATP1A2
Publications for gene ATP1A2 were changed from to 18056581; 12953268; 12539047
Childhood onset dystonia, chorea or related movement disorder v0.7 ADCY5 Ellen McDonagh Source PanelApp was added to ADCY5.
Mode of inheritance for gene ADCY5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dyskinesia, familial, with facial myokymia, 606703; dystonia; Familial dyskinesia 606703 for gene: ADCY5
Publications for gene ADCY5 were changed from to 11310626; 24700542
Childhood onset dystonia, chorea or related movement disorder v0.7 SGCE Ellen McDonagh Source PanelApp was added to SGCE.
Mode of inheritance for gene SGCE was changed from to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Added phenotypes Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900; Myoclonus dystonia syndrome for gene: SGCE
Publications for gene SGCE were changed from to 20301334; 11528394; 12325078
Childhood onset dystonia, chorea or related movement disorder v0.7 TUBB4A Ellen McDonagh Source PanelApp was added to TUBB4A.
Mode of inheritance for gene TUBB4A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes hereditary whispering dysphonia; ?Dystonia 4, torsion, autosomal dominant, 128101; Dystonia; Leukodystrophy, hypomyelinating, 6 612438 for gene: TUBB4A
Publications for gene TUBB4A were changed from to 27809427; 24850488; 23582646; 24526230
Childhood onset dystonia, chorea or related movement disorder v0.7 MR1 Ellen McDonagh Source PanelApp was added to MR1.
Mode of inheritance for gene MR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dystonia; Paroxysmal/Episodic dystonia for gene: MR1
Childhood onset dystonia, chorea or related movement disorder v0.7 KMT2B Ellen McDonagh Source PanelApp was added to KMT2B.
Mode of inheritance for gene KMT2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dystonia 28, childhood-onset 617284; early-onset dystonia for gene: KMT2B
Publications for gene KMT2B were changed from to 27992417
Childhood onset dystonia, chorea or related movement disorder v0.7 GNAO1 Ellen McDonagh Source PanelApp was added to GNAO1.
Mode of inheritance for gene GNAO1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Neurodevelopmental disorder with involuntary movements, 617493 for gene: GNAO1
Publications for gene GNAO1 were changed from to 26060304; 27625011; 25966631; 27068059; 28357411
Childhood onset dystonia, chorea or related movement disorder v0.7 GLI3 Ellen McDonagh Source PanelApp was added to GLI3.
Mode of inheritance for gene GLI3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Joubert Syndrome and Senior-Loken Syndrome 24 gene panel for gene: GLI3
Childhood onset dystonia, chorea or related movement disorder v0.7 FTL Ellen McDonagh Source PanelApp was added to FTL.
Mode of inheritance for gene FTL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Neurodegeneration with brain iron accumulation 3 606159 for gene: FTL
Childhood onset dystonia, chorea or related movement disorder v0.7 DCTN1 Ellen McDonagh Source PanelApp was added to DCTN1.
Added phenotypes Neuropathy, distal hereditary motor, type VIIB for gene: DCTN1
Childhood onset dystonia, chorea or related movement disorder v0.7 CHMP2B Ellen McDonagh Source PanelApp was added to CHMP2B.
Mode of inheritance for gene CHMP2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Dystonia; familial frontotemporal lobar degeneration (ALS17) for gene: CHMP2B
Childhood onset dystonia, chorea or related movement disorder v0.7 ANO3 Ellen McDonagh Source PanelApp was added to ANO3.
Mode of inheritance for gene ANO3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dystonia 24, 615034; familial form of cranio-cervical dystonia for gene: ANO3
Publications for gene ANO3 were changed from to 25847575; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 27392807; 24442708
Childhood onset dystonia, chorea or related movement disorder v0.7 MT-ND6 Ellen McDonagh Source PanelApp was added to MT-ND6.
Added phenotypes Leber Optic Atrophy And Dystonia for gene: MT-ND6
Childhood onset dystonia, chorea or related movement disorder v0.7 ZNF423 Ellen McDonagh Source PanelApp was added to ZNF423.
Mode of inheritance for gene ZNF423 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 19; Nephronophthisis 14; Nephronophthisis 14, 614844; Joubert syndrome 19, 614844; Joubert syndrome with oculorenal defect for gene: ZNF423
Childhood onset dystonia, chorea or related movement disorder v0.7 SPR Ellen McDonagh Source PanelApp was added to SPR.
Mode of inheritance for gene SPR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Dopa-Responsive Dystonia; Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; Sepiapterin reductase deficiency; paediatric form of dopa responsive dystonia for gene: SPR
Publications for gene SPR were changed from to 15241655; 18502672; 27830117; 20301334; 11443547; 22522443; 27604308
Childhood onset dystonia, chorea or related movement disorder v0.7 SLC6A5 Ellen McDonagh Source PanelApp was added to SLC6A5.
Mode of inheritance for gene SLC6A5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5
Publications for gene SLC6A5 were changed from to 16751771
Childhood onset dystonia, chorea or related movement disorder v0.7 SLC2A1 Ellen McDonagh Source PanelApp was added to SLC2A1.
Mode of inheritance for gene SLC2A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes GLUT1 deficiency syndrome 2, childhood onset; dystonia 9; EPILEPSY, IDIOPATHIC GENERALIZED; GLUT1 deficiency syndrome 1, 606777; GLUT1 deficiency syndrome 1, infantile onset, severe; Dystonia; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 2 for gene: SLC2A1
Publications for gene SLC2A1 were changed from to 19630075; 20301334; 18451999; 18577546
Childhood onset dystonia, chorea or related movement disorder v0.7 GLRA1 Ellen McDonagh Source PanelApp was added to GLRA1.
Mode of inheritance for gene GLRA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hyperekplexia, hereditary 1, 149400 for gene: GLRA1
Publications for gene GLRA1 were changed from to 20301437
Childhood onset dystonia, chorea or related movement disorder v0.7 GCH1 Ellen McDonagh Source PanelApp was added to GCH1.
Mode of inheritance for gene GCH1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Dopa-Responsive Dystonia (DRD); Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; GTP-cyclohydrolase deficiency for gene: GCH1
Publications for gene GCH1 were changed from to 3762960; 8163996; 7730309; 10987649; 942621; 9667588; 3822637; 7874165; 17111153; 6734669; 1899474; 945938; 3400489; 7869202; 10208576; 20301334; 27830117; 12552057; 20301681; 10732814; 12084887; 3041760; 16908750; 11346370; 11113234; 2296384; 15753436
Childhood onset dystonia, chorea or related movement disorder v0.7 C19orf12 Ellen McDonagh Source PanelApp was added to C19orf12.
Mode of inheritance for gene C19orf12 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes neurodegeneration with brain iron accumulation-4; mitochondrial membrane protein-associated neurodegeneration; Dystonia for gene: C19orf12
Childhood onset dystonia, chorea or related movement disorder v0.7 WDR73 Ellen McDonagh Source PanelApp was added to WDR73.
Mode of inheritance for gene WDR73 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Galloway-Mowat syndrome 1, 251300 for gene: WDR73
Childhood onset dystonia, chorea or related movement disorder v0.7 VPS13B Ellen McDonagh Source PanelApp was added to VPS13B.
Mode of inheritance for gene VPS13B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cohen syndrome, 216550; COHEN SYNDROME for gene: VPS13B
Childhood onset dystonia, chorea or related movement disorder v0.7 VPS13A Ellen McDonagh Source PanelApp was added to VPS13A.
Mode of inheritance for gene VPS13A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Choreoacanthocytosis 200150; complex parkinsonism for gene: VPS13A
Publications for gene VPS13A were changed from to 14663054; 11381253; 11381254
Childhood onset dystonia, chorea or related movement disorder v0.7 VAC14 Ellen McDonagh Source PanelApp was added to VAC14.
Mode of inheritance for gene VAC14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Striatonigral degeneration, childhood-onset 617054 for gene: VAC14
Publications for gene VAC14 were changed from to 17956977; 27292112; 19037259
Childhood onset dystonia, chorea or related movement disorder v0.7 TXNDC15 Ellen McDonagh Source PanelApp was added to TXNDC15.
Mode of inheritance for gene TXNDC15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Meckel-Gruber syndrome; MGS for gene: TXNDC15
Publications for gene TXNDC15 were changed from to 27894351
Childhood onset dystonia, chorea or related movement disorder v0.7 TMEM67 Ellen McDonagh Source PanelApp was added to TMEM67.
Mode of inheritance for gene TMEM67 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 613550; 607361; Joubert syndrome; ?Bardet-Biedl syndrome?; 216360; Joubert syndrome 6; Meckel-Gruber syndrome; Meckel syndrome; COACH syndrome; nephronophthisis; Senior-Boichis syndrome; 610688; Nephronophthisis 11 for gene: TMEM67
Publications for gene TMEM67 were changed from to PMID: 17160906; PMID: 19058225; PMID: 20607301; PMID: 16415887; PMID: 18327255; PMID: 19508969
Childhood onset dystonia, chorea or related movement disorder v0.7 TMEM237 Ellen McDonagh Source PanelApp was added to TMEM237.
Mode of inheritance for gene TMEM237 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 14; Joubert syndrome; Joubert syndrome with oculorenal defect for gene: TMEM237
Publications for gene TMEM237 were changed from to 20301500; 22152675
Childhood onset dystonia, chorea or related movement disorder v0.7 TMEM231 Ellen McDonagh Source PanelApp was added to TMEM231.
Mode of inheritance for gene TMEM231 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 20; Meckel syndrome 11, 615397; Joubert syndrome 20, 614970; Meckel syndrome; Joubert syndrome with oculorenal defect for gene: TMEM231
Childhood onset dystonia, chorea or related movement disorder v0.7 TMEM216 Ellen McDonagh Source PanelApp was added to TMEM216.
Mode of inheritance for gene TMEM216 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome: Meckel-Gruber syndrome; Joubert syndrome 2; Joubert syndrome with oculorenal defect; Meckel syndrome for gene: TMEM216
Publications for gene TMEM216 were changed from to 22282472; 20512146; 20036350
Childhood onset dystonia, chorea or related movement disorder v0.7 TMEM138 Ellen McDonagh Source PanelApp was added to TMEM138.
Mode of inheritance for gene TMEM138 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 16; Joubert syndrome with oculorenal defect for gene: TMEM138
Publications for gene TMEM138 were changed from to 22282472
Childhood onset dystonia, chorea or related movement disorder v0.7 TMEM107 Ellen McDonagh Source PanelApp was added to TMEM107.
Mode of inheritance for gene TMEM107 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Orofaciodigital syndrome XVI 617563; ?Joubert syndrome 29 617562; Meckel syndrome 13 617562 for gene: TMEM107
Publications for gene TMEM107 were changed from to 22698544; 26595381; 26123494; 26518474
Childhood onset dystonia, chorea or related movement disorder v0.7 TH Ellen McDonagh Source PanelApp was added to TH.
Mode of inheritance for gene TH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes DOPA-responsive dystonia; Segawa syndrome, recessive, 605407; Tyrosine Hydroxylase Deficiency; Segawa syndrome; paediatric form of dopa responsive dystonia for gene: TH
Publications for gene TH were changed from to 27830117; 20301334; 8528210; 21937992; 9732974; 9703425; 8817341; 17696123; 7814018; 11246459; 10585338
Childhood onset dystonia, chorea or related movement disorder v0.7 TCTN3 Ellen McDonagh Source PanelApp was added to TCTN3.
Mode of inheritance for gene TCTN3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Meckel-Gruber; Joubert syndrome; Joubert syndrome 18; Orofaciodigital syndrome IV; Mohr-Majewski syndrome for gene: TCTN3
Publications for gene TCTN3 were changed from to 22883145; 25118024
Childhood onset dystonia, chorea or related movement disorder v0.7 TCTN2 Ellen McDonagh Source PanelApp was added to TCTN2.
Mode of inheritance for gene TCTN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Meckel syndrome; Joubert syndrome, Meckel-Gruber syndrome; Joubert syndrome 24 for gene: TCTN2
Publications for gene TCTN2 were changed from to 21565611; 25118024
Childhood onset dystonia, chorea or related movement disorder v0.7 TCTN1 Ellen McDonagh Source PanelApp was added to TCTN1.
Mode of inheritance for gene TCTN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome for gene: TCTN1
Publications for gene TCTN1 were changed from to 20301500; 22693042; 28631893; 21725307; 26477546; 26489806
Childhood onset dystonia, chorea or related movement disorder v0.7 SYNJ1 Ellen McDonagh Source PanelApp was added to SYNJ1.
Mode of inheritance for gene SYNJ1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Parkinson disease 20, early-onset; juvenile Parkinsonism for gene: SYNJ1
Publications for gene SYNJ1 were changed from to 27496670; 23804577; 23804563
Childhood onset dystonia, chorea or related movement disorder v0.7 SURF1 Ellen McDonagh Source PanelApp was added to SURF1.
Mode of inheritance for gene SURF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000 for gene: SURF1
Childhood onset dystonia, chorea or related movement disorder v0.7 SUFU Ellen McDonagh Source PanelApp was added to SUFU.
Mode of inheritance for gene SUFU was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 32, 617757 for gene: SUFU
Childhood onset dystonia, chorea or related movement disorder v0.7 SUCLG1 Ellen McDonagh Source PanelApp was added to SUCLG1.
Mode of inheritance for gene SUCLG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 for gene: SUCLG1
Childhood onset dystonia, chorea or related movement disorder v0.7 SUCLA2 Ellen McDonagh Source PanelApp was added to SUCLA2.
Mode of inheritance for gene SUCLA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia for gene: SUCLA2
Childhood onset dystonia, chorea or related movement disorder v0.7 SLC6A3 Ellen McDonagh Source PanelApp was added to SLC6A3.
Mode of inheritance for gene SLC6A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes {Nicotine dependence, protection against}, 188890; Dopamine transporter deficiency; Parkinsonism-dystonia, infantile, 613135 for gene: SLC6A3
Publications for gene SLC6A3 were changed from to 21112253; 27830117; 24613933
Childhood onset dystonia, chorea or related movement disorder v0.7 SLC39A14 Ellen McDonagh Source PanelApp was added to SLC39A14.
Mode of inheritance for gene SLC39A14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypermanganesemia with dystonia 2 617013 for gene: SLC39A14
Publications for gene SLC39A14 were changed from to 27231142
Childhood onset dystonia, chorea or related movement disorder v0.7 SLC30A10 Ellen McDonagh Source PanelApp was added to SLC30A10.
Mode of inheritance for gene SLC30A10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 for gene: SLC30A10
Publications for gene SLC30A10 were changed from to 22934317; 22341972; 25778823; 22341971; 22926781
Childhood onset dystonia, chorea or related movement disorder v0.7 SLC25A19 Ellen McDonagh Source PanelApp was added to SLC25A19.
Mode of inheritance for gene SLC25A19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly, Amish type 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710 for gene: SLC25A19
Publications for gene SLC25A19 were changed from to 19798730; 12185364; 17035501
Childhood onset dystonia, chorea or related movement disorder v0.7 SLC19A3 Ellen McDonagh Source PanelApp was added to SLC19A3.
Mode of inheritance for gene SLC19A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia; Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483 for gene: SLC19A3
Childhood onset dystonia, chorea or related movement disorder v0.7 SLC18A2 Ellen McDonagh Source PanelApp was added to SLC18A2.
Mode of inheritance for gene SLC18A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism); Vesicular monoamine transporter deficiency for gene: SLC18A2
Publications for gene SLC18A2 were changed from to 27830117; 28477711; 26497564; 23363473; 27520881; 24398404; 24018103; 27604308
Childhood onset dystonia, chorea or related movement disorder v0.7 SERAC1 Ellen McDonagh Source PanelApp was added to SERAC1.
Mode of inheritance for gene SERAC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Lesions in the basal ganglia; MEGDEL syndrome; MEGDHEL syndrome; Dystonia; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome for gene: SERAC1
Publications for gene SERAC1 were changed from to 27186703; 16527507; 28482397; 28778788; 29205472; 22683713; 27604308
Childhood onset dystonia, chorea or related movement disorder v0.7 SDHA Ellen McDonagh Source PanelApp was added to SDHA.
Mode of inheritance for gene SDHA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Childhood onset dystonia, chorea or related movement disorder v0.7 RPGRIP1L Ellen McDonagh Source PanelApp was added to RPGRIP1L.
Mode of inheritance for gene RPGRIP1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 7; Joubert syndrome; Meckel-Gruber syndrome; Meckel syndrome 5; Meckel syndrome for gene: RPGRIP1L
Publications for gene RPGRIP1L were changed from to 17558409; 17558407; 19574260
Childhood onset dystonia, chorea or related movement disorder v0.7 QDPR Ellen McDonagh Source PanelApp was added to QDPR.
Mode of inheritance for gene QDPR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dihydropteridine reductase deficiency; Hyperphenylalaninemia, BH4-deficient, C, 261630; Dystonia for gene: QDPR
Publications for gene QDPR were changed from to 11746132; 27830117; 2785251; 16917893; 11153907; 49470; 2116088; 7627180; 317358; 53532; 27604308; 10029353
Childhood onset dystonia, chorea or related movement disorder v0.7 PTS Ellen McDonagh Source PanelApp was added to PTS.
Mode of inheritance for gene PTS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 6-Pyruvoyltetrahydropterin Synthase Deficiency; Dystonia; 6-Pyruvoyl-tetrahydropterin synthase deficiency; Hyperphenylalaninemia, BH4-deficient, A, 261640 for gene: PTS
Publications for gene PTS were changed from to 27830117; 9450907; 8178819; 10220141; 27604308
Childhood onset dystonia, chorea or related movement disorder v0.7 PRKRA Ellen McDonagh Source PanelApp was added to PRKRA.
Mode of inheritance for gene PRKRA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia 16, 612067; early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Dystonia for gene: PRKRA
Publications for gene PRKRA were changed from to 22842711; 25737287; 20301334; 18420150; 18243799; 26990861; 25914261; 24142417; 25142429
Childhood onset dystonia, chorea or related movement disorder v0.7 PRKN Ellen McDonagh Source PanelApp was added to PRKN.
Mode of inheritance for gene PRKN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia; Parkinson disease, juvenile, type 2; juvenile parkinsonism/dystonia for gene: PRKN
Childhood onset dystonia, chorea or related movement disorder v0.7 PMM2 Ellen McDonagh Source PanelApp was added to PMM2.
Mode of inheritance for gene PMM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Congenital disorder of glycosylation, type Ia 212065 for gene: PMM2
Publications for gene PMM2 were changed from to 9140401
Childhood onset dystonia, chorea or related movement disorder v0.7 PLA2G6 Ellen McDonagh Source PanelApp was added to PLA2G6.
Mode of inheritance for gene PLA2G6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Parkinson disease 14, autosomal recessive 612953; Infantile neuroaxonal dystrophy 1 256600; Neurodegeneration with brain iron accumulation 2B 610217; PLA2G6-associated neurodegeneration for gene: PLA2G6
Publications for gene PLA2G6 were changed from to 16783378; 18799783; 18570303
Childhood onset dystonia, chorea or related movement disorder v0.7 PINK1 Ellen McDonagh Source PanelApp was added to PINK1.
Mode of inheritance for gene PINK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Parkinson disease 6, early onset; Dystonia for gene: PINK1
Childhood onset dystonia, chorea or related movement disorder v0.7 PDP1 Ellen McDonagh Source PanelApp was added to PDP1.
Mode of inheritance for gene PDP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782 for gene: PDP1
Publications for gene PDP1 were changed from to 19184109; 15855260
Childhood onset dystonia, chorea or related movement disorder v0.7 PDE10A Ellen McDonagh Source PanelApp was added to PDE10A.
Mode of inheritance for gene PDE10A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Striatal degeneration, autosomal dominant 616922; Dyskinesia, limb and orofacial, infantile-onset 616921 for gene: PDE10A
Publications for gene PDE10A were changed from to 27058447; 27058446
Childhood onset dystonia, chorea or related movement disorder v0.7 PCCB Ellen McDonagh Source PanelApp was added to PCCB.
Mode of inheritance for gene PCCB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Propionicacidemia 606054 for gene: PCCB
Childhood onset dystonia, chorea or related movement disorder v0.7 PCCA Ellen McDonagh Source PanelApp was added to PCCA.
Mode of inheritance for gene PCCA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Propionicacidemia 606054 for gene: PCCA
Publications for gene PCCA were changed from to 6790853; 15235904
Childhood onset dystonia, chorea or related movement disorder v0.7 PARK7 Ellen McDonagh Source PanelApp was added to PARK7.
Added phenotypes Parkinson disease 7, autosomal recessive early-onset for gene: PARK7
Childhood onset dystonia, chorea or related movement disorder v0.7 PANK2 Ellen McDonagh Source PanelApp was added to PANK2.
Mode of inheritance for gene PANK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia; pantothenate kinase-associated neurodegeneration for gene: PANK2
Childhood onset dystonia, chorea or related movement disorder v0.7 OCLN Ellen McDonagh Source PanelApp was added to OCLN.
Mode of inheritance for gene OCLN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Band-like calcification with simplified gyration and polymicrogyria 251290 for gene: OCLN
Publications for gene OCLN were changed from to 20727516
Childhood onset dystonia, chorea or related movement disorder v0.7 NUP62 Ellen McDonagh Source PanelApp was added to NUP62.
Added phenotypes Striatonigral degeneration, infantile 271930 for gene: NUP62
Publications for gene NUP62 were changed from to 16786527; 12374138; 14718703
Childhood onset dystonia, chorea or related movement disorder v0.7 NPHP3 Ellen McDonagh Source PanelApp was added to NPHP3.
Mode of inheritance for gene NPHP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Nephronophthisis 3, 604387; Senior-Loken syndrome; Renal-hepatic-pancreatic dysplasia 1, 208540; Nephronophthisis; Meckel syndrome 7, 267010; Renal-hepatic-pancreatic dysplasia for gene: NPHP3
Childhood onset dystonia, chorea or related movement disorder v0.7 NPHP1 Ellen McDonagh Source PanelApp was added to NPHP1.
Mode of inheritance for gene NPHP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 4; 609583 Nephronophthisis 1, juvenile; Senior-Loken syndrome; 256100 Senior-Loken syndrome-1, 266900; Nephronophthisis for gene: NPHP1
Publications for gene NPHP1 were changed from to 15689444; 15138899; 22982934
Childhood onset dystonia, chorea or related movement disorder v0.7 NKX6-2 Ellen McDonagh Source PanelApp was added to NKX6-2.
Mode of inheritance for gene NKX6-2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 for gene: NKX6-2
Publications for gene NKX6-2 were changed from to 15601927; 28575651
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFV1 Ellen McDonagh Source PanelApp was added to NDUFV1.
Mode of inheritance for gene NDUFV1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, 252010 for gene: NDUFV1
Publications for gene NDUFV1 were changed from to 10080174; 26345448
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFS8 Ellen McDonagh Source PanelApp was added to NDUFS8.
Mode of inheritance for gene NDUFS8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, nuclear type 2, 618222 for gene: NDUFS8
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFS7 Ellen McDonagh Source PanelApp was added to NDUFS7.
Mode of inheritance for gene NDUFS7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, nuclear type 3, 618224 for gene: NDUFS7
Hereditary neuropathy or pain disorder v0.21 WARS Louise Daugherty commented on gene: WARS: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFS4 Ellen McDonagh Source PanelApp was added to NDUFS4.
Mode of inheritance for gene NDUFS4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency 252010; Leigh syndrome 256000 for gene: NDUFS4
Publications for gene NDUFS4 were changed from to 24020637
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFS3 Ellen McDonagh Source PanelApp was added to NDUFS3.
Added phenotypes Mitochondrial complex I deficiency 252010; Leigh syndrome due to mitochondrial complex I deficiency 256000 for gene: NDUFS3
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFAF6 Ellen McDonagh Source PanelApp was added to NDUFAF6.
Mode of inheritance for gene NDUFAF6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency 256000 for gene: NDUFAF6
Publications for gene NDUFAF6 were changed from to 27623250; 26741492; 18614015
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFAF2 Ellen McDonagh Source PanelApp was added to NDUFAF2.
Mode of inheritance for gene NDUFAF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, nuclear type 10, 618233 for gene: NDUFAF2
Publications for gene NDUFAF2 were changed from to 16200211; 20818383; 20571988
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFA9 Ellen McDonagh Source PanelApp was added to NDUFA9.
Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency 256000 for gene: NDUFA9
Publications for gene NDUFA9 were changed from to 22114105
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFA2 Ellen McDonagh Source PanelApp was added to NDUFA2.
Publications for gene NDUFA2 were changed from to 18513682
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFA12 Ellen McDonagh Source PanelApp was added to NDUFA12.
Added phenotypes Leigh syndrome due to mitochondrial complex 1 deficiency 256000 for gene: NDUFA12
Publications for gene NDUFA12 were changed from to 21617257
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFA10 Ellen McDonagh Source PanelApp was added to NDUFA10.
Mode of inheritance for gene NDUFA10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leigh syndrome 256000 for gene: NDUFA10
Publications for gene NDUFA10 were changed from to 28247337; 21150889; 26741492
Childhood onset dystonia, chorea or related movement disorder v0.7 MUT Ellen McDonagh Source PanelApp was added to MUT.
Mode of inheritance for gene MUT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Methylmalonic aciduria, mut(0) type 251000 for gene: MUT
Childhood onset dystonia, chorea or related movement disorder v0.7 MKS1 Ellen McDonagh Source PanelApp was added to MKS1.
Mode of inheritance for gene MKS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity for gene MKS1 was changed from to Other - please provide details in the comments
Added phenotypes polydactyly; Joubert syndrome 28; Joubert syndrome; polycystic kidneys; occipital encephalocele; Meckel-Gruber syndrome; 249000; renal fibrosis; Meckel syndrome; Bardet-Biedl syndrome for gene: MKS1
Publications for gene MKS1 were changed from to 18327255; 26490104; 24886560; 17437276; 16415886
Childhood onset dystonia, chorea or related movement disorder v0.7 MECR Ellen McDonagh Source PanelApp was added to MECR.
Mode of inheritance for gene MECR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 for gene: MECR
Publications for gene MECR were changed from to 27817865
Childhood onset dystonia, chorea or related movement disorder v0.7 KIF7 Ellen McDonagh Source PanelApp was added to KIF7.
Mode of inheritance for gene KIF7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 12 200990; Acrocallosal syndrome 200990 for gene: KIF7
Publications for gene KIF7 were changed from to 21633164
Childhood onset dystonia, chorea or related movement disorder v0.7 KIAA0586 Ellen McDonagh Source PanelApp was added to KIAA0586.
Mode of inheritance for gene KIAA0586 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Short-rib thoracic dysplasia 14 with polydactyly; Joubert syndrome; Joubert syndrome 23; Short-rib dysplasia 14 with polydactyly for gene: KIAA0586
Publications for gene KIAA0586 were changed from to 26096313
Childhood onset dystonia, chorea or related movement disorder v0.7 IVD Ellen McDonagh Source PanelApp was added to IVD.
Mode of inheritance for gene IVD was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Isovaleric acidemia 243500 for gene: IVD
Childhood onset dystonia, chorea or related movement disorder v0.7 ISG15 Ellen McDonagh Source PanelApp was added to ISG15.
Mode of inheritance for gene ISG15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency 38 616126 for gene: ISG15
Publications for gene ISG15 were changed from to 22859821; 25307056
Childhood onset dystonia, chorea or related movement disorder v0.7 INPP5E Ellen McDonagh Source PanelApp was added to INPP5E.
Mode of inheritance for gene INPP5E was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome; Joubert syndrome 1 for gene: INPP5E
Publications for gene INPP5E were changed from to 26748598; 23386033
Childhood onset dystonia, chorea or related movement disorder v0.7 ICK Ellen McDonagh Source PanelApp was added to ICK.
Mode of inheritance for gene ICK was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Endocrine-cerebroosteodysplasia, 612651; ECO; short-rib thoracic dysplasia with polydactyly (SRTD) for gene: ICK
Publications for gene ICK were changed from to 27466187; 19185282; 27069622
Childhood onset dystonia, chorea or related movement disorder v0.7 HYLS1 Ellen McDonagh Source PanelApp was added to HYLS1.
Mode of inheritance for gene HYLS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome; Hydrolethalus syndrome, 236680 for gene: HYLS1
Publications for gene HYLS1 were changed from to 18648327 - Hydrolethalus syndrome; 19656802 - impairment in ciligenesis; 15843405 - Hydrolethalus syndrome; 26830932 - report in two siblings with Joubert syndrome
Childhood onset dystonia, chorea or related movement disorder v0.7 HTRA2 Ellen McDonagh Source PanelApp was added to HTRA2.
Mode of inheritance for gene HTRA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 3-methylglutaconic aciduria, type VIII 617248 for gene: HTRA2
Publications for gene HTRA2 were changed from to 27208207; 27696117
Childhood onset dystonia, chorea or related movement disorder v0.7 HPCA Ellen McDonagh Source PanelApp was added to HPCA.
Mode of inheritance for gene HPCA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes adolescence-onset segmental dystonia; generalized dystonia with additional neurological features; Dystonia 2, torsion, autosomal recessive, 224500; childhood-onset generalized dystonia for gene: HPCA
Publications for gene HPCA were changed from to 25799108; 30145809
Childhood onset dystonia, chorea or related movement disorder v0.7 HIBCH Ellen McDonagh Source PanelApp was added to HIBCH.
Mode of inheritance for gene HIBCH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency 250620 for gene: HIBCH
Childhood onset dystonia, chorea or related movement disorder v0.7 GLRB Ellen McDonagh Source PanelApp was added to GLRB.
Mode of inheritance for gene GLRB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hyperekplexia 2, 614619 for gene: GLRB
Publications for gene GLRB were changed from to 21391991; 23238346; 11929858
Childhood onset dystonia, chorea or related movement disorder v0.7 GCDH Ellen McDonagh Source PanelApp was added to GCDH.
Mode of inheritance for gene GCDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia for gene: GCDH
Publications for gene GCDH were changed from to 8900227; 11174631; 8900228; 10699052; 7795610
Childhood onset dystonia, chorea or related movement disorder v0.7 FOLR1 Ellen McDonagh Source PanelApp was added to FOLR1.
Mode of inheritance for gene FOLR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068; Folate receptor alpha deficiency for gene: FOLR1
Publications for gene FOLR1 were changed from to 27830117; 21937992; 19732866; 2044715
Childhood onset dystonia, chorea or related movement disorder v0.7 FBXO7 Ellen McDonagh Source PanelApp was added to FBXO7.
Mode of inheritance for gene FBXO7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes juvenile parkinsonism; Dystonia for gene: FBXO7
Childhood onset dystonia, chorea or related movement disorder v0.7 FA2H Ellen McDonagh Source PanelApp was added to FA2H.
Mode of inheritance for gene FA2H was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes fatty acid hydroxylase-associated neurodegeneration; Dystonia; Spastic paraplegia 35, autosomal recessive 612319 for gene: FA2H
Publications for gene FA2H were changed from to 19068277
Childhood onset dystonia, chorea or related movement disorder v0.7 EVC2 Ellen McDonagh Source PanelApp was added to EVC2.
Mode of inheritance for gene EVC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ellis-van Creveld syndrome, 225500; Weyers acrofacial dysostosis, 193530 for gene: EVC2
Childhood onset dystonia, chorea or related movement disorder v0.7 EVC Ellen McDonagh Source PanelApp was added to EVC.
Mode of inheritance for gene EVC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ellis-van Creveld syndrome, 225500; Weyers acrodental dysostosis, 193530 for gene: EVC
Childhood onset dystonia, chorea or related movement disorder v0.7 ETHE1 Ellen McDonagh Source PanelApp was added to ETHE1.
Mode of inheritance for gene ETHE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ethylmalonic encephalopathy 602473 for gene: ETHE1
Childhood onset dystonia, chorea or related movement disorder v0.7 DNAJC12 Ellen McDonagh Source PanelApp was added to DNAJC12.
Mode of inheritance for gene DNAJC12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 for gene: DNAJC12
Publications for gene DNAJC12 were changed from to 28132689
Childhood onset dystonia, chorea or related movement disorder v0.7 DLAT Ellen McDonagh Source PanelApp was added to DLAT.
Mode of inheritance for gene DLAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pyruvate dehydrogenase E2 deficiency 245348; Dystonia for gene: DLAT
Publications for gene DLAT were changed from to 16049940; 19891062
Childhood onset dystonia, chorea or related movement disorder v0.7 DHFR Ellen McDonagh Source PanelApp was added to DHFR.
Mode of inheritance for gene DHFR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; Dihydrofolate reductase deficiency for gene: DHFR
Publications for gene DHFR were changed from to 21310277; 27830117; 21310276; 27604308
Childhood onset dystonia, chorea or related movement disorder v0.7 DHCR7 Ellen McDonagh Source PanelApp was added to DHCR7.
Mode of inheritance for gene DHCR7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Smith-Lemli-Opitz syndrome 270400 for gene: DHCR7
Publications for gene DHCR7 were changed from to 9634533
Childhood onset dystonia, chorea or related movement disorder v0.7 DDX59 Ellen McDonagh Source PanelApp was added to DDX59.
Mode of inheritance for gene DDX59 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Orofaciodigital syndrome V, 174300 for gene: DDX59
Publications for gene DDX59 were changed from to 29127725; 28711741; 23972372
Childhood onset dystonia, chorea or related movement disorder v0.7 DDC Ellen McDonagh Source PanelApp was added to DDC.
Mode of inheritance for gene DDC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643; Dystonia for gene: DDC
Publications for gene DDC were changed from to 27830117; 27604308; 24816252
Childhood onset dystonia, chorea or related movement disorder v0.7 DCAF17 Ellen McDonagh Source PanelApp was added to DCAF17.
Mode of inheritance for gene DCAF17 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia; Woodhouse-Sakati syndrome for gene: DCAF17
Hereditary neuropathy or pain disorder v0.21 VRK1 Louise Daugherty commented on gene: VRK1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Childhood onset dystonia, chorea or related movement disorder v0.7 DCAF10 Ellen McDonagh Source PanelApp was added to DCAF10.
Childhood onset dystonia, chorea or related movement disorder v0.7 DBH Ellen McDonagh Source PanelApp was added to DBH.
Mode of inheritance for gene DBH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dopamine beta-hydroxylase deficiency, 223360 for gene: DBH
Publications for gene DBH were changed from to 27778639; 27830117; 27604308
Childhood onset dystonia, chorea or related movement disorder v0.7 CSTB Ellen McDonagh Source PanelApp was added to CSTB.
Mode of inheritance for gene CSTB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes microcephaly and severe dyskinesia (26843564); Epilepsy, progressive myoclonic 1A, 254800 for gene: CSTB
Publications for gene CSTB were changed from to 26843564
Childhood onset dystonia, chorea or related movement disorder v0.7 CSPP1 Ellen McDonagh Source PanelApp was added to CSPP1.
Mode of inheritance for gene CSPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Meckel syndrome; Joubert syndrome; Meckel-Gruber syndrome; Joubert syndrome 21 for gene: CSPP1
Publications for gene CSPP1 were changed from to 24360803; 24360808; 24360807
Childhood onset dystonia, chorea or related movement disorder v0.7 CRB2 Ellen McDonagh Source PanelApp was added to CRB2.
Mode of inheritance for gene CRB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ventriculomegaly with cystic kidney disease 219730 for gene: CRB2
Publications for gene CRB2 were changed from to 25557780
Childhood onset dystonia, chorea or related movement disorder v0.7 CP Ellen McDonagh Source PanelApp was added to CP.
Mode of inheritance for gene CP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebellar ataxia 604290; Dystonia; [Hypoceruloplasminemia, hereditary] 604290; Aceruloplasminemia; Hemosiderosis, systemic, due to aceruloplasminemia 604290 for gene: CP
Childhood onset dystonia, chorea or related movement disorder v0.7 COX15 Ellen McDonagh Source PanelApp was added to COX15.
Mode of inheritance for gene COX15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 for gene: COX15
Childhood onset dystonia, chorea or related movement disorder v0.7 COX10 Ellen McDonagh Source PanelApp was added to COX10.
Mode of inheritance for gene COX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex IV deficiency, 220110; Leigh syndrome due to mitochondrial COX4 deficiency, 256000 for gene: COX10
Publications for gene COX10 were changed from to 10767350
Childhood onset dystonia, chorea or related movement disorder v0.7 COASY Ellen McDonagh Source PanelApp was added to COASY.
Mode of inheritance for gene COASY was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neurodegeneration with brain iron accumulation 6 615643; COASY protein-associated neurodegeneration for gene: COASY
Publications for gene COASY were changed from to 27021474; 24360804
Childhood onset dystonia, chorea or related movement disorder v0.7 CEP41 Ellen McDonagh Source PanelApp was added to CEP41.
Mode of inheritance for gene CEP41 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 15 for gene: CEP41
Publications for gene CEP41 were changed from to 22246503
Childhood onset dystonia, chorea or related movement disorder v0.7 CEP290 Ellen McDonagh Source PanelApp was added to CEP290.
Mode of inheritance for gene CEP290 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 611755; 610189; Senior-Loken syndrome; 611134; 610188; Joubert syndrome 5; Senior-Loken syndrome 6; Meckel syndrome; Meckel syndrome 4; Joubert syndrome with oculorenal defect for gene: CEP290
Publications for gene CEP290 were changed from to 18327255; 20690115
Childhood onset dystonia, chorea or related movement disorder v0.7 CEP104 Ellen McDonagh Source PanelApp was added to CEP104.
Mode of inheritance for gene CEP104 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 25; Joubert syndrome 25, 616781 for gene: CEP104
Publications for gene CEP104 were changed from to 26477546
Childhood onset dystonia, chorea or related movement disorder v0.7 CENPF Ellen McDonagh Source PanelApp was added to CENPF.
Mode of inheritance for gene CENPF was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Stromme syndrome, 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome for gene: CENPF
Publications for gene CENPF were changed from to 26820108
Childhood onset dystonia, chorea or related movement disorder v0.7 CC2D2A Ellen McDonagh Source PanelApp was added to CC2D2A.
Mode of inheritance for gene CC2D2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome with oculorenal defect; Meckel syndrome 6; Meckel syndrome; COACH syndrome; Joubert syndrome 9 for gene: CC2D2A
Childhood onset dystonia, chorea or related movement disorder v0.7 C5orf42 Ellen McDonagh Source PanelApp was added to C5orf42.
Mode of inheritance for gene C5orf42 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 17; Oral-facial-digital syndrome type VI; Joubert syndrome for gene: C5orf42
Publications for gene C5orf42 were changed from to 22425360; 22693042; 25920555
Childhood onset dystonia, chorea or related movement disorder v0.7 C2CD3 Ellen McDonagh Source PanelApp was added to C2CD3.
Mode of inheritance for gene C2CD3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes MIM208500); MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD; short-rib polydactyly syndromes (SRPS; ?Orofaciodigital syndrome XIV, 615948; Orofaciodigital syndromes (OFDS, MIM 311200) for gene: C2CD3
Publications for gene C2CD3 were changed from to 26044959; 27094867; 24997988
Childhood onset dystonia, chorea or related movement disorder v0.7 BCS1L Ellen McDonagh Source PanelApp was added to BCS1L.
Mode of inheritance for gene BCS1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leigh syndrome, 256000; Bjornstad syndrome, 262000; Mitochondrial complex III deficiency, nuclear type 1, 124000 for gene: BCS1L
Childhood onset dystonia, chorea or related movement disorder v0.7 B9D2 Ellen McDonagh Source PanelApp was added to B9D2.
Mode of inheritance for gene B9D2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Meckel syndrome; Joubert syndrome; Meckel syndrome 10, 614175; ciliopathies for gene: B9D2
Publications for gene B9D2 were changed from to 26092869 - two further cases with Joubert syndrome reported from two different families; 21763481 - two affected fetuses form the same family displayed overlapping phenotypes including cystic kidneys, ductal plate malformation, polydactyly, and occipital encephalocele. Homozygous variant identified in this gene, which was not present in the unaffected son. Homozygous variants were not identified in other known Meckel syndrome genes
Childhood onset dystonia, chorea or related movement disorder v0.7 ATP7B Ellen McDonagh Source PanelApp was added to ATP7B.
Mode of inheritance for gene ATP7B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Wilson disease 277900; Dystonia for gene: ATP7B
Publications for gene ATP7B were changed from to 20301685
Childhood onset dystonia, chorea or related movement disorder v0.7 ATP13A2 Ellen McDonagh Source PanelApp was added to ATP13A2.
Mode of inheritance for gene ATP13A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Kufor-Rakeb syndrome 606693; Parkinson disease; Dystonia for gene: ATP13A2
Publications for gene ATP13A2 were changed from to 21060012
Childhood onset dystonia, chorea or related movement disorder v0.7 ATM Ellen McDonagh Source PanelApp was added to ATM.
Mode of inheritance for gene ATM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia; Ataxia telangiectasia for gene: ATM
Childhood onset dystonia, chorea or related movement disorder v0.7 ARL13B Ellen McDonagh Source PanelApp was added to ARL13B.
Mode of inheritance for gene ARL13B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 8 for gene: ARL13B
Publications for gene ARL13B were changed from to 25138100; 18674751
Childhood onset dystonia, chorea or related movement disorder v0.7 APTX Ellen McDonagh Source PanelApp was added to APTX.
Mode of inheritance for gene APTX was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia for gene: APTX
Childhood onset dystonia, chorea or related movement disorder v0.7 AHI1 Ellen McDonagh Source PanelApp was added to AHI1.
Mode of inheritance for gene AHI1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 3; Joubert syndrome; Joubert syndrome-3. for gene: AHI1
Childhood onset dystonia, chorea or related movement disorder v0.7 ADAR Ellen McDonagh Source PanelApp was added to ADAR.
Mode of inheritance for gene ADAR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 6, 615010; dystonia for gene: ADAR
Publications for gene ADAR were changed from to 28139822; 23001123
Hereditary neuropathy or pain disorder v0.21 TRIM2 Louise Daugherty Classified gene: TRIM2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.21 TRIM2 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.21 TRIM2 Louise Daugherty Gene: trim2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.20 SYT2 Louise Daugherty commented on gene: SYT2: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.20 SLC5A7 Louise Daugherty Classified gene: SLC5A7 as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.20 SLC5A7 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.20 SLC5A7 Louise Daugherty Gene: slc5a7 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.19 SETX Louise Daugherty commented on gene: SETX: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.19 SBF1 Louise Daugherty Classified gene: SBF1 as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.19 SBF1 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.19 SBF1 Louise Daugherty Gene: sbf1 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.18 PRNP Louise Daugherty Classified gene: PRNP as Red List (low evidence)
Hereditary neuropathy or pain disorder v0.18 PRNP Louise Daugherty Gene: prnp has been classified as Red List (Low Evidence).
Hereditary neuropathy or pain disorder v0.17 PRNP Louise Daugherty Classified gene: PRNP as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.17 PRNP Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
AlexRossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that AR provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel
Hereditary neuropathy or pain disorder v0.17 PRNP Louise Daugherty Gene: prnp has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.16 PMP2 Louise Daugherty Classified gene: PMP2 as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.16 PMP2 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.16 PMP2 Louise Daugherty Gene: pmp2 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.15 NEFH Louise Daugherty Classified gene: NEFH as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.15 NEFH Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.15 NEFH Louise Daugherty Gene: nefh has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.14 MCM3AP Louise Daugherty Classified gene: MCM3AP as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.14 MCM3AP Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.14 MCM3AP Louise Daugherty Gene: mcm3ap has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.13 GNB4 Louise Daugherty Classified gene: GNB4 as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.13 GNB4 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.13 GNB4 Louise Daugherty Gene: gnb4 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.12 DST Louise Daugherty Classified gene: DST as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.12 DST Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.12 DST Louise Daugherty Gene: dst has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.11 DRP2 Louise Daugherty Classified gene: DRP2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.11 DRP2 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.11 DRP2 Louise Daugherty Gene: drp2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.10 DNAJB2 Louise Daugherty Classified gene: DNAJB2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.10 DNAJB2 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.10 DNAJB2 Louise Daugherty Gene: dnajb2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.9 ATP1A1 Louise Daugherty Classified gene: ATP1A1 as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.9 ATP1A1 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.9 ATP1A1 Louise Daugherty Gene: atp1a1 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.8 ATL3 Louise Daugherty Classified gene: ATL3 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.8 ATL3 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.8 ATL3 Louise Daugherty Gene: atl3 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.7 ARHGEF10 Louise Daugherty changed review comment from: Comment on list classification: The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.; to: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.7 ARHGEF10 Louise Daugherty Classified gene: ARHGEF10 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.7 ARHGEF10 Louise Daugherty Added comment: Comment on list classification: The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.7 ARHGEF10 Louise Daugherty Gene: arhgef10 has been classified as Amber List (Moderate Evidence).
Childhood onset dystonia, chorea or related movement disorder v0.3 Ellen McDonagh List of related panels changed from to R57
Childhood onset dystonia, chorea or related movement disorder v0.2 Ellen McDonagh Panel status changed from internal to public
Panel types changed to GMS Rare Disease
Childhood onset dystonia, chorea or related movement disorder v0.1 VPS37A Ellen McDonagh gene: VPS37A was added
gene: VPS37A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive, 614898
Childhood onset dystonia, chorea or related movement disorder v0.1 TREM2 Ellen McDonagh gene: TREM2 was added
gene: TREM2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: TREM2 was set to
Phenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193; Alzheimers disease; Frontotemporal dementia
Childhood onset dystonia, chorea or related movement disorder v0.1 SLC46A1 Ellen McDonagh Source South West GLH was added to SLC46A1.
Mode of inheritance for gene SLC46A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Folate malabsorption, hereditary, 229050 for gene: SLC46A1
Childhood onset dystonia, chorea or related movement disorder v0.1 SDHAF1 Ellen McDonagh Source South West GLH was added to SDHAF1.
Mode of inheritance for gene SDHAF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex II deficiency, 252011 for gene: SDHAF1
Childhood onset dystonia, chorea or related movement disorder v0.1 SCP2 Ellen McDonagh Source South West GLH was added to SCP2.
Mode of inheritance for gene SCP2 was changed from to Unknown
Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SCP2
Childhood onset dystonia, chorea or related movement disorder v0.1 SCN9A Ellen McDonagh gene: SCN9A was added
gene: SCN9A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN9A were set to Paroxysmal extreme pain disorder, 167400; Erythermalgia, Primary; Erythermalgia, primary, 133020; Hereditary Sensory Neuropathy; Insensitivity to pain, channelopathy-associated, 243000; Congenital Indifference to Pain; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Dysosteosclerosis; Febrile seizures, familial, 3B, 613863; Paroxysmal Extreme Pain Disorder
Childhood onset dystonia, chorea or related movement disorder v0.1 PTEN Ellen McDonagh gene: PTEN was added
gene: PTEN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: PTEN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PTEN were set to Lhermitte-Duclos syndrome, 158350; Cowden syndrome 1, 158350; Macrocephaly/autism syndrome, 605309; VATER association with macrocephaly and ventriculomegaly, 276950
Childhood onset dystonia, chorea or related movement disorder v0.1 PSEN1 Ellen McDonagh gene: PSEN1 was added
gene: PSEN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: PSEN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSEN1 were set to Alzheimer disease, type 3, 607822; Pick disease, 172700; Dementia, frontotemporal 600274; Cardiomyopathy, dilated, 1U, 613694
Childhood onset dystonia, chorea or related movement disorder v0.1 PNPT1 Ellen McDonagh Source South West GLH was added to PNPT1.
Mode of inheritance for gene PNPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932 for gene: PNPT1
Childhood onset dystonia, chorea or related movement disorder v0.1 PITX3 Ellen McDonagh gene: PITX3 was added
gene: PITX3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: PITX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PITX3 were set to Disorders of Dopamine Synthesis Regulation
Childhood onset dystonia, chorea or related movement disorder v0.1 PDX1 Ellen McDonagh gene: PDX1 was added
gene: PDX1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDX1 were set to Pancreatic agenesis 1 260370; MODY, type IV 606392
Childhood onset dystonia, chorea or related movement disorder v0.1 PDHX Ellen McDonagh Source South West GLH was added to PDHX.
Mode of inheritance for gene PDHX was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Lacticacidemia due to PDX1 deficiency, 245349 for gene: PDHX
Childhood onset dystonia, chorea or related movement disorder v0.1 PARK7 Ellen McDonagh gene: PARK7 was added
gene: PARK7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PARK7 were set to Parkinson disease 7, autosomal recessive early-onset
Childhood onset dystonia, chorea or related movement disorder v0.1 NUP62 Ellen McDonagh gene: NUP62 was added
gene: NUP62 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile 271930
Childhood onset dystonia, chorea or related movement disorder v0.1 NDUFS3 Ellen McDonagh Source South West GLH was added to NDUFS3.
Mode of inheritance for gene NDUFS3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, nuclear type 8, 618230 for gene: NDUFS3
Childhood onset dystonia, chorea or related movement disorder v0.1 NDUFA9 Ellen McDonagh gene: NDUFA9 was added
gene: NDUFA9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA9 were set to Mitochondrial complex I deficiency, nuclear type 26, 618247
Childhood onset dystonia, chorea or related movement disorder v0.1 NDUFA2 Ellen McDonagh Source South West GLH was added to NDUFA2.
Mode of inheritance for gene NDUFA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, nuclear type 13 for gene: NDUFA2
Childhood onset dystonia, chorea or related movement disorder v0.1 NDUFA12 Ellen McDonagh gene: NDUFA12 was added
gene: NDUFA12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA12 were set to ?Mitochondrial complex I deficiency, nuclear type 23, 618244
Childhood onset dystonia, chorea or related movement disorder v0.1 MR1 Ellen McDonagh gene: MR1 was added
gene: MR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: MR1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.1 MPV17 Ellen McDonagh Source South West GLH was added to MPV17.
Mode of inheritance for gene MPV17 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 for gene: MPV17
Childhood onset dystonia, chorea or related movement disorder v0.1 MMADHC Ellen McDonagh Source South West GLH was added to MMADHC.
Mode of inheritance for gene MMADHC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Methylmalonic aciduria, cblD type, variant 2; Homocystinuria, cblD type, variant 1; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC
Childhood onset dystonia, chorea or related movement disorder v0.1 MCOLN1 Ellen McDonagh Source South West GLH was added to MCOLN1.
Mode of inheritance for gene MCOLN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mucolipidosis IV, 252650 for gene: MCOLN1
Childhood onset dystonia, chorea or related movement disorder v0.1 MAT1A Ellen McDonagh Source South West GLH was added to MAT1A.
Mode of inheritance for gene MAT1A was changed from to Unknown
Added phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A
Childhood onset dystonia, chorea or related movement disorder v0.1 KCNK18 Ellen McDonagh Source South West GLH was added to KCNK18.
Mode of inheritance for gene KCNK18 was changed from to Unknown
Added phenotypes MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 for gene: KCNK18
Childhood onset dystonia, chorea or related movement disorder v0.1 HTT Ellen McDonagh gene: HTT was added
gene: HTT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HTT were set to Huntington disease, 143100
Childhood onset dystonia, chorea or related movement disorder v0.1 GFAP Ellen McDonagh Source South West GLH was added to GFAP.
Mode of inheritance for gene GFAP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Alexander disease, 203450 for gene: GFAP
Childhood onset dystonia, chorea or related movement disorder v0.1 GAMT Ellen McDonagh Source South West GLH was added to GAMT.
Mode of inheritance for gene GAMT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebral creatine deficiency syndrome 2, 612736 for gene: GAMT
Childhood onset dystonia, chorea or related movement disorder v0.1 FOXRED1 Ellen McDonagh Source South West GLH was added to FOXRED1.
Mode of inheritance for gene FOXRED1 was changed from to Unknown
Added phenotypes Mitochondrial complex I deficiency, nuclear type 19, 618241 for gene: FOXRED1
Childhood onset dystonia, chorea or related movement disorder v0.1 FASTKD2 Ellen McDonagh Source South West GLH was added to FASTKD2.
Mode of inheritance for gene FASTKD2 was changed from to Unknown
Added phenotypes Dystonia for gene: FASTKD2
Childhood onset dystonia, chorea or related movement disorder v0.1 ERCC6 Ellen McDonagh gene: ERCC6 was added
gene: ERCC6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: ERCC6 was set to Unknown
Phenotypes for gene: ERCC6 were set to Dystonia
Childhood onset dystonia, chorea or related movement disorder v0.1 EARS2 Ellen McDonagh Source South West GLH was added to EARS2.
Mode of inheritance for gene EARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924 for gene: EARS2
Childhood onset dystonia, chorea or related movement disorder v0.1 DRD5 Ellen McDonagh gene: DRD5 was added
gene: DRD5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: DRD5 was set to Unknown
Phenotypes for gene: DRD5 were set to {Blepharospasm, primary benign}, 606798
Childhood onset dystonia, chorea or related movement disorder v0.1 DRD2 Ellen McDonagh gene: DRD2 was added
gene: DRD2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: DRD2 was set to Unknown
Phenotypes for gene: DRD2 were set to Dystonia, myoclonic, 159900
Childhood onset dystonia, chorea or related movement disorder v0.1 DCTN1 Ellen McDonagh gene: DCTN1 was added
gene: DCTN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DCTN1 were set to Neuropathy, distal hereditary motor, type VIIB
Childhood onset dystonia, chorea or related movement disorder v0.1 DCAF10 Ellen McDonagh gene: DCAF10 was added
gene: DCAF10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: DCAF10 was set to BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v0.1 CIZ1 Ellen McDonagh Source South West GLH was added to CIZ1.
Mode of inheritance for gene CIZ1 was changed from to Unknown
Added phenotypes Dystonia 23, 614860 for gene: CIZ1
Childhood onset dystonia, chorea or related movement disorder v0.1 BDNF Ellen McDonagh gene: BDNF was added
gene: BDNF was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: BDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BDNF were set to Central hypoventilation syndrome, congenital, 209880
Childhood onset dystonia, chorea or related movement disorder v0.1 ATN1 Ellen McDonagh gene: ATN1 was added
gene: ATN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
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, 125370
Childhood onset dystonia, chorea or related movement disorder v0.1 AIFM1 Ellen McDonagh Source South West GLH was added to AIFM1.
Mode of inheritance for gene AIFM1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Combined oxidative phosphorylation deficiency 6 300816 for gene: AIFM1
Childhood onset dystonia, chorea or related movement disorder v0.1 AFG3L2 Ellen McDonagh Source South West GLH was added to AFG3L2.
Mode of inheritance for gene AFG3L2 was changed from to Unknown
Added phenotypes Dystonia for gene: AFG3L2
Childhood onset dystonia, chorea or related movement disorder v0.1 TREX1 Ellen McDonagh Source South West GLH was added to TREX1.
Mode of inheritance for gene TREX1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, 192315; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 for gene: TREX1
Childhood onset dystonia, chorea or related movement disorder v0.1 TPK1 Ellen McDonagh Source South West GLH was added to TPK1.
Mode of inheritance for gene TPK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1
Childhood onset dystonia, chorea or related movement disorder v0.1 TIMM8A Ellen McDonagh Source South West GLH was added to TIMM8A.
Mode of inheritance for gene TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A
Childhood onset dystonia, chorea or related movement disorder v0.1 TAF1 Ellen McDonagh Source South West GLH was added to TAF1.
Mode of inheritance for gene TAF1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes (NB complex mutation); Dystonia-Parkinsonism, X-linked, 314250 for gene: TAF1
Childhood onset dystonia, chorea or related movement disorder v0.1 SAMHD1 Ellen McDonagh Source South West GLH was added to SAMHD1.
Mode of inheritance for gene SAMHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 5, 612952 for gene: SAMHD1
Childhood onset dystonia, chorea or related movement disorder v0.1 RNASEH2C Ellen McDonagh Source South West GLH was added to RNASEH2C.
Mode of inheritance for gene RNASEH2C was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 3, 610329 for gene: RNASEH2C
Childhood onset dystonia, chorea or related movement disorder v0.1 RNASEH2B Ellen McDonagh Source South West GLH was added to RNASEH2B.
Mode of inheritance for gene RNASEH2B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 2, 610181 for gene: RNASEH2B
Childhood onset dystonia, chorea or related movement disorder v0.1 RNASEH2A Ellen McDonagh Source South West GLH was added to RNASEH2A.
Mode of inheritance for gene RNASEH2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 4, 610333 for gene: RNASEH2A
Childhood onset dystonia, chorea or related movement disorder v0.1 PLP1 Ellen McDonagh gene: PLP1 was added
gene: PLP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked, 312920; Pelizaeus-Merzbacher disease, 312080
Childhood onset dystonia, chorea or related movement disorder v0.1 PCDH12 Ellen McDonagh gene: PCDH12 was added
gene: PCDH12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH12 were set to perithalamic hyperechogenicity; midbrain abnormalities; microcephaly; hypothalamic abnormalities; intellectual disability; periventricular hyperechogenicity. Microcephaly, seizures, spasticity, and brain calcification, 251280; epilepsy
Childhood onset dystonia, chorea or related movement disorder v0.1 NPC2 Ellen McDonagh Source South West GLH was added to NPC2.
Mode of inheritance for gene NPC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Niemann-pick disease, type C2, 607625 for gene: NPC2
Childhood onset dystonia, chorea or related movement disorder v0.1 L2HGDH Ellen McDonagh Source South West GLH was added to L2HGDH.
Mode of inheritance for gene L2HGDH was changed from to Unknown
Added phenotypes L-2-hydroxyglutaric aciduria, 236792 for gene: L2HGDH
Childhood onset dystonia, chorea or related movement disorder v0.1 HPRT1 Ellen McDonagh Source South West GLH was added to HPRT1.
Mode of inheritance for gene HPRT1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Lesch-Nyhan syndrome, 300322 for gene: HPRT1
Childhood onset dystonia, chorea or related movement disorder v0.1 HEXA Ellen McDonagh Source South West GLH was added to HEXA.
Mode of inheritance for gene HEXA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes [Hex A pseudodeficiency] 272800 AR; GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800 for gene: HEXA
Childhood onset dystonia, chorea or related movement disorder v0.1 FOXG1 Ellen McDonagh gene: FOXG1 was added
gene: FOXG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXG1 were set to Rett Syndrome, congenital variant, 613454
Childhood onset dystonia, chorea or related movement disorder v0.1 CYP27A1 Ellen McDonagh Source South West GLH was added to CYP27A1.
Mode of inheritance for gene CYP27A1 was changed from to Unknown
Added phenotypes Cerebrotendinous xanthomatosis, CTX, 213700 for gene: CYP27A1
Childhood onset dystonia, chorea or related movement disorder v0.1 AUH Ellen McDonagh Source South West GLH was added to AUH.
Mode of inheritance for gene AUH was changed from to Unknown
Added phenotypes 3-methylglutaconic aciduria, type I, 250950 for gene: AUH
Childhood onset dystonia, chorea or related movement disorder v0.1 ARX Ellen McDonagh gene: ARX was added
gene: ARX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: ARX 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: ARX were set to Partington Syndrome, 300382
Childhood onset dystonia, chorea or related movement disorder v0.1 ARSA Ellen McDonagh Source South West GLH was added to ARSA.
Mode of inheritance for gene ARSA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Metachromatic leukodystrophy, 250100 for gene: ARSA
Childhood onset dystonia, chorea or related movement disorder v0.1 SUOX Ellen McDonagh Source South West GLH was added to SUOX.
Mode of inheritance for gene SUOX was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Sulfite oxidase deficiency, 272300 for gene: SUOX
Childhood onset dystonia, chorea or related movement disorder v0.1 NKX2-1 Ellen McDonagh gene: NKX2-1 was added
gene: NKX2-1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978; Chorea, hereditary benign 118700
Childhood onset dystonia, chorea or related movement disorder v0.1 GNAL Ellen McDonagh Source South West GLH was added to GNAL.
Mode of inheritance for gene GNAL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dystonia 25, 615073 for gene: GNAL
Childhood onset dystonia, chorea or related movement disorder v0.1 ACTB Ellen McDonagh gene: ACTB was added
gene: ACTB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTB were set to Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
Childhood onset dystonia, chorea or related movement disorder v0.0 ZNF423 Ellen McDonagh gene: ZNF423 was added
gene: ZNF423 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ZNF423 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 YARS2 Ellen McDonagh gene: YARS2 was added
gene: YARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: YARS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 XYLT2 Ellen McDonagh gene: XYLT2 was added
gene: XYLT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: XYLT2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 XYLT1 Ellen McDonagh gene: XYLT1 was added
gene: XYLT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: XYLT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 XPR1 Ellen McDonagh gene: XPR1 was added
gene: XPR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: XPR1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 XPNPEP3 Ellen McDonagh gene: XPNPEP3 was added
gene: XPNPEP3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: XPNPEP3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 XDH Ellen McDonagh gene: XDH was added
gene: XDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: XDH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 WDR81 Ellen McDonagh gene: WDR81 was added
gene: WDR81 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: WDR81 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 WDR35 Ellen McDonagh gene: WDR35 was added
gene: WDR35 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: WDR35 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 WDR34 Ellen McDonagh gene: WDR34 was added
gene: WDR34 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: WDR34 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 WDR19 Ellen McDonagh gene: WDR19 was added
gene: WDR19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: WDR19 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 WDPCP Ellen McDonagh gene: WDPCP was added
gene: WDPCP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: WDPCP was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 VRK1 Ellen McDonagh gene: VRK1 was added
gene: VRK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: VRK1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 VPS53 Ellen McDonagh gene: VPS53 was added
gene: VPS53 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: VPS53 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 VPS33B Ellen McDonagh gene: VPS33B was added
gene: VPS33B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: VPS33B was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 VPS13B Ellen McDonagh gene: VPS13B was added
gene: VPS13B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: VPS13B was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 VLDLR Ellen McDonagh gene: VLDLR was added
gene: VLDLR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: VLDLR was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 VKORC1 Ellen McDonagh gene: VKORC1 was added
gene: VKORC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: VKORC1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 VIPAS39 Ellen McDonagh gene: VIPAS39 was added
gene: VIPAS39 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: VIPAS39 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 VARS2 Ellen McDonagh gene: VARS2 was added
gene: VARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: VARS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 UROS Ellen McDonagh gene: UROS was added
gene: UROS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: UROS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 UROD Ellen McDonagh gene: UROD was added
gene: UROD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: UROD was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 UROC1 Ellen McDonagh gene: UROC1 was added
gene: UROC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: UROC1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 UQCRQ Ellen McDonagh gene: UQCRQ was added
gene: UQCRQ was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: UQCRQ was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 UQCRB Ellen McDonagh gene: UQCRB was added
gene: UQCRB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: UQCRB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 UMPS Ellen McDonagh gene: UMPS was added
gene: UMPS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: UMPS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 UMOD Ellen McDonagh gene: UMOD was added
gene: UMOD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: UMOD was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 UGT1A1 Ellen McDonagh gene: UGT1A1 was added
gene: UGT1A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: UGT1A1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TYMP Ellen McDonagh gene: TYMP was added
gene: TYMP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TYMP was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TXNDC15 Ellen McDonagh gene: TXNDC15 was added
gene: TXNDC15 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TXNDC15 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TWNK Ellen McDonagh gene: TWNK was added
gene: TWNK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TWNK was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TUSC3 Ellen McDonagh gene: TUSC3 was added
gene: TUSC3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TUSC3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TUFM Ellen McDonagh gene: TUFM was added
gene: TUFM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TUFM was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TUBB3 Ellen McDonagh gene: TUBB3 was added
gene: TUBB3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TUBB3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TUBB2B Ellen McDonagh gene: TUBB2B was added
gene: TUBB2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TUBB2B was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TUBA8 Ellen McDonagh gene: TUBA8 was added
gene: TUBA8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TUBA8 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TUBA1A Ellen McDonagh gene: TUBA1A was added
gene: TUBA1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TUBA1A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TTPA Ellen McDonagh gene: TTPA was added
gene: TTPA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TTPA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TTC8 Ellen McDonagh gene: TTC8 was added
gene: TTC8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TTC8 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TTC37 Ellen McDonagh gene: TTC37 was added
gene: TTC37 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TTC37 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TTC21B Ellen McDonagh gene: TTC21B was added
gene: TTC21B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TTC21B was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TTC19 Ellen McDonagh gene: TTC19 was added
gene: TTC19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TTC19 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TSFM Ellen McDonagh gene: TSFM was added
gene: TSFM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TSFM was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TSEN54 Ellen McDonagh gene: TSEN54 was added
gene: TSEN54 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TSEN54 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TSEN34 Ellen McDonagh gene: TSEN34 was added
gene: TSEN34 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TSEN34 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TSEN2 Ellen McDonagh gene: TSEN2 was added
gene: TSEN2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TSEN2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TRPM6 Ellen McDonagh gene: TRPM6 was added
gene: TRPM6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TRPM6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TRNT1 Ellen McDonagh gene: TRNT1 was added
gene: TRNT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TRNT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TRMU Ellen McDonagh gene: TRMU was added
gene: TRMU was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TRMU was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TRIM37 Ellen McDonagh gene: TRIM37 was added
gene: TRIM37 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TRIM37 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TRAF3IP1 Ellen McDonagh gene: TRAF3IP1 was added
gene: TRAF3IP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TRAF3IP1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TPK1 Ellen McDonagh gene: TPK1 was added
gene: TPK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TPK1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TOE1 Ellen McDonagh gene: TOE1 was added
gene: TOE1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TOE1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TMEM70 Ellen McDonagh gene: TMEM70 was added
gene: TMEM70 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM70 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TMEM67 Ellen McDonagh gene: TMEM67 was added
gene: TMEM67 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM67 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TMEM5 Ellen McDonagh gene: TMEM5 was added
gene: TMEM5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM5 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TMEM237 Ellen McDonagh gene: TMEM237 was added
gene: TMEM237 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM237 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TMEM231 Ellen McDonagh gene: TMEM231 was added
gene: TMEM231 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM231 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TMEM216 Ellen McDonagh gene: TMEM216 was added
gene: TMEM216 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM216 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TMEM165 Ellen McDonagh gene: TMEM165 was added
gene: TMEM165 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM165 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TMEM138 Ellen McDonagh gene: TMEM138 was added
gene: TMEM138 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM138 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TMEM126B Ellen McDonagh gene: TMEM126B was added
gene: TMEM126B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM126B was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TMEM107 Ellen McDonagh gene: TMEM107 was added
gene: TMEM107 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM107 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TK2 Ellen McDonagh gene: TK2 was added
gene: TK2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TK2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TINF2 Ellen McDonagh gene: TINF2 was added
gene: TINF2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TINF2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TIMM50 Ellen McDonagh gene: TIMM50 was added
gene: TIMM50 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TIMM50 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TFR2 Ellen McDonagh gene: TFR2 was added
gene: TFR2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TFR2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TERT Ellen McDonagh gene: TERT was added
gene: TERT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TERT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TCTN3 Ellen McDonagh gene: TCTN3 was added
gene: TCTN3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TCTN3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TCTN2 Ellen McDonagh gene: TCTN2 was added
gene: TCTN2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TCTN2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TCTN1 Ellen McDonagh gene: TCTN1 was added
gene: TCTN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TCTN1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TCTEX1D2 Ellen McDonagh gene: TCTEX1D2 was added
gene: TCTEX1D2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TCTEX1D2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TCN2 Ellen McDonagh gene: TCN2 was added
gene: TCN2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TCN2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TAZ Ellen McDonagh gene: TAZ was added
gene: TAZ was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TAZ was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TAT Ellen McDonagh gene: TAT was added
gene: TAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TAT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TARS2 Ellen McDonagh gene: TARS2 was added
gene: TARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TARS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TANGO2 Ellen McDonagh gene: TANGO2 was added
gene: TANGO2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TANGO2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TALDO1 Ellen McDonagh gene: TALDO1 was added
gene: TALDO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TALDO1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TACO1 Ellen McDonagh gene: TACO1 was added
gene: TACO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TACO1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SYNE1 Ellen McDonagh gene: SYNE1 was added
gene: SYNE1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SYNE1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SUOX Ellen McDonagh gene: SUOX was added
gene: SUOX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SUOX was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SUMF1 Ellen McDonagh gene: SUMF1 was added
gene: SUMF1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SUMF1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SUFU Ellen McDonagh gene: SUFU was added
gene: SUFU was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SUFU was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SUCLG1 Ellen McDonagh gene: SUCLG1 was added
gene: SUCLG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SUCLG1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 STT3A Ellen McDonagh gene: STT3A was added
gene: STT3A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: STT3A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 STS Ellen McDonagh gene: STS was added
gene: STS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: STS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ST3GAL5 Ellen McDonagh gene: ST3GAL5 was added
gene: ST3GAL5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ST3GAL5 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ST3GAL3 Ellen McDonagh gene: ST3GAL3 was added
gene: ST3GAL3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ST3GAL3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SSR4 Ellen McDonagh gene: SSR4 was added
gene: SSR4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SSR4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SRD5A3 Ellen McDonagh gene: SRD5A3 was added
gene: SRD5A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SRD5A3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SPTLC2 Ellen McDonagh gene: SPTLC2 was added
gene: SPTLC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SPTLC2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SPTLC1 Ellen McDonagh gene: SPTLC1 was added
gene: SPTLC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SPTLC1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SPTBN2 Ellen McDonagh gene: SPTBN2 was added
gene: SPTBN2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SPTBN2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SMPD4 Ellen McDonagh gene: SMPD4 was added
gene: SMPD4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SMPD4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SMPD1 Ellen McDonagh gene: SMPD1 was added
gene: SMPD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SMPD1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC9A6 Ellen McDonagh gene: SLC9A6 was added
gene: SLC9A6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC9A6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC7A9 Ellen McDonagh gene: SLC7A9 was added
gene: SLC7A9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC7A9 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC7A7 Ellen McDonagh gene: SLC7A7 was added
gene: SLC7A7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC7A7 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC6A20 Ellen McDonagh gene: SLC6A20 was added
gene: SLC6A20 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC6A20 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC6A19 Ellen McDonagh gene: SLC6A19 was added
gene: SLC6A19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC6A19 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC5A1 Ellen McDonagh gene: SLC5A1 was added
gene: SLC5A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC5A1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC52A3 Ellen McDonagh gene: SLC52A3 was added
gene: SLC52A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC52A3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC52A2 Ellen McDonagh gene: SLC52A2 was added
gene: SLC52A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC52A2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC46A1 Ellen McDonagh gene: SLC46A1 was added
gene: SLC46A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC46A1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC40A1 Ellen McDonagh gene: SLC40A1 was added
gene: SLC40A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC40A1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC3A1 Ellen McDonagh gene: SLC3A1 was added
gene: SLC3A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC3A1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC39A8 Ellen McDonagh gene: SLC39A8 was added
gene: SLC39A8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC39A8 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC39A4 Ellen McDonagh gene: SLC39A4 was added
gene: SLC39A4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC39A4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC37A4 Ellen McDonagh gene: SLC37A4 was added
gene: SLC37A4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC37A4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC35D1 Ellen McDonagh gene: SLC35D1 was added
gene: SLC35D1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC35D1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC35C1 Ellen McDonagh gene: SLC35C1 was added
gene: SLC35C1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC35C1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC35A2 Ellen McDonagh gene: SLC35A2 was added
gene: SLC35A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC35A2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC35A1 Ellen McDonagh gene: SLC35A1 was added
gene: SLC35A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC35A1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC2A2 Ellen McDonagh gene: SLC2A2 was added
gene: SLC2A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC2A2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC25A46 Ellen McDonagh gene: SLC25A46 was added
gene: SLC25A46 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A46 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC25A4 Ellen McDonagh gene: SLC25A4 was added
gene: SLC25A4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC25A38 Ellen McDonagh gene: SLC25A38 was added
gene: SLC25A38 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A38 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC25A3 Ellen McDonagh gene: SLC25A3 was added
gene: SLC25A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC25A26 Ellen McDonagh gene: SLC25A26 was added
gene: SLC25A26 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A26 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC25A22 Ellen McDonagh gene: SLC25A22 was added
gene: SLC25A22 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A22 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC25A20 Ellen McDonagh gene: SLC25A20 was added
gene: SLC25A20 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A20 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC25A19 Ellen McDonagh gene: SLC25A19 was added
gene: SLC25A19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A19 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC25A15 Ellen McDonagh gene: SLC25A15 was added
gene: SLC25A15 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A15 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC25A13 Ellen McDonagh gene: SLC25A13 was added
gene: SLC25A13 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A13 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC25A12 Ellen McDonagh gene: SLC25A12 was added
gene: SLC25A12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A12 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC25A1 Ellen McDonagh gene: SLC25A1 was added
gene: SLC25A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC22A5 Ellen McDonagh gene: SLC22A5 was added
gene: SLC22A5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC22A5 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC19A2 Ellen McDonagh gene: SLC19A2 was added
gene: SLC19A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC19A2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC18A2 Ellen McDonagh gene: SLC18A2 was added
gene: SLC18A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC18A2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC17A5 Ellen McDonagh gene: SLC17A5 was added
gene: SLC17A5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC17A5 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC16A1 Ellen McDonagh gene: SLC16A1 was added
gene: SLC16A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC16A1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC12A3 Ellen McDonagh gene: SLC12A3 was added
gene: SLC12A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC12A3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SKIV2L Ellen McDonagh gene: SKIV2L was added
gene: SKIV2L was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SKIV2L was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SI Ellen McDonagh gene: SI was added
gene: SI was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SI was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SGSH Ellen McDonagh gene: SGSH was added
gene: SGSH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SGSH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SEPSECS Ellen McDonagh gene: SEPSECS was added
gene: SEPSECS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SEPSECS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SEC23B Ellen McDonagh gene: SEC23B was added
gene: SEC23B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SEC23B was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SDHD Ellen McDonagh gene: SDHD was added
gene: SDHD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SDHD was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SDHC Ellen McDonagh gene: SDHC was added
gene: SDHC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SDHC was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SDHB Ellen McDonagh gene: SDHB was added
gene: SDHB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SDHB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SDHAF2 Ellen McDonagh gene: SDHAF2 was added
gene: SDHAF2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SDHAF2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SDHAF1 Ellen McDonagh gene: SDHAF1 was added
gene: SDHAF1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SDHAF1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SDHA Ellen McDonagh gene: SDHA was added
gene: SDHA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SDHA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SDCCAG8 Ellen McDonagh gene: SDCCAG8 was added
gene: SDCCAG8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SDCCAG8 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SCP2 Ellen McDonagh gene: SCP2 was added
gene: SCP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SCP2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SCO2 Ellen McDonagh gene: SCO2 was added
gene: SCO2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SCO2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SCO1 Ellen McDonagh gene: SCO1 was added
gene: SCO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SCO1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SC5D Ellen McDonagh gene: SC5D was added
gene: SC5D was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SC5D was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SBDS Ellen McDonagh gene: SBDS was added
gene: SBDS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SBDS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SARS2 Ellen McDonagh gene: SARS2 was added
gene: SARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SARS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SAR1B Ellen McDonagh gene: SAR1B was added
gene: SAR1B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SAR1B was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RYR1 Ellen McDonagh gene: RYR1 was added
gene: RYR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RYR1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RRM2B Ellen McDonagh gene: RRM2B was added
gene: RRM2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RRM2B was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RPL10 Ellen McDonagh gene: RPL10 was added
gene: RPL10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RPL10 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RPIA Ellen McDonagh gene: RPIA was added
gene: RPIA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RPIA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RPGRIP1L Ellen McDonagh gene: RPGRIP1L was added
gene: RPGRIP1L was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RPGRIP1L was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ROBO3 Ellen McDonagh gene: ROBO3 was added
gene: ROBO3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ROBO3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RNF216 Ellen McDonagh gene: RNF216 was added
gene: RNF216 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RNF216 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RNF170 Ellen McDonagh gene: RNF170 was added
gene: RNF170 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RNF170 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RNASEH2A Ellen McDonagh gene: RNASEH2A was added
gene: RNASEH2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RNASEH2A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RNASEH1 Ellen McDonagh gene: RNASEH1 was added
gene: RNASEH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RNASEH1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RMND1 Ellen McDonagh gene: RMND1 was added
gene: RMND1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RMND1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RFT1 Ellen McDonagh gene: RFT1 was added
gene: RFT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RFT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RELN Ellen McDonagh gene: RELN was added
gene: RELN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RELN was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RBP4 Ellen McDonagh gene: RBP4 was added
gene: RBP4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RBP4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RBCK1 Ellen McDonagh gene: RBCK1 was added
gene: RBCK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RBCK1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RARS2 Ellen McDonagh gene: RARS2 was added
gene: RARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RARS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RANBP2 Ellen McDonagh gene: RANBP2 was added
gene: RANBP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RANBP2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 QARS Ellen McDonagh gene: QARS was added
gene: QARS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: QARS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PYGM Ellen McDonagh gene: PYGM was added
gene: PYGM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PYGM was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PYGL Ellen McDonagh gene: PYGL was added
gene: PYGL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PYGL was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PYCR1 Ellen McDonagh gene: PYCR1 was added
gene: PYCR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PYCR1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PUS1 Ellen McDonagh gene: PUS1 was added
gene: PUS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PUS1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PTF1A Ellen McDonagh gene: PTF1A was added
gene: PTF1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PTF1A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PSPH Ellen McDonagh gene: PSPH was added
gene: PSPH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PSPH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PSAT1 Ellen McDonagh gene: PSAT1 was added
gene: PSAT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PSAT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PSAP Ellen McDonagh gene: PSAP was added
gene: PSAP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PSAP was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PRPS1 Ellen McDonagh gene: PRPS1 was added
gene: PRPS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PRPS1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PRODH Ellen McDonagh gene: PRODH was added
gene: PRODH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PRODH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PRKAG2 Ellen McDonagh gene: PRKAG2 was added
gene: PRKAG2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PRKAG2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PPT1 Ellen McDonagh gene: PPT1 was added
gene: PPT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PPT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PPOX Ellen McDonagh gene: PPOX was added
gene: PPOX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PPOX was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PPA2 Ellen McDonagh gene: PPA2 was added
gene: PPA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PPA2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 POR Ellen McDonagh gene: POR was added
gene: POR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: POR was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 POMT2 Ellen McDonagh gene: POMT2 was added
gene: POMT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: POMT2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 POMT1 Ellen McDonagh gene: POMT1 was added
gene: POMT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: POMT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 POMGNT2 Ellen McDonagh gene: POMGNT2 was added
gene: POMGNT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: POMGNT2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 POMGNT1 Ellen McDonagh gene: POMGNT1 was added
gene: POMGNT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: POMGNT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 POLG2 Ellen McDonagh gene: POLG2 was added
gene: POLG2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: POLG2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 POLG Ellen McDonagh gene: POLG was added
gene: POLG was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: POLG was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PNPT1 Ellen McDonagh gene: PNPT1 was added
gene: PNPT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PNPT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PNPO Ellen McDonagh gene: PNPO was added
gene: PNPO was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PNPO was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PNPLA6 Ellen McDonagh gene: PNPLA6 was added
gene: PNPLA6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PNPLA6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PNP Ellen McDonagh gene: PNP was added
gene: PNP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PNP was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PMPCA Ellen McDonagh gene: PMPCA was added
gene: PMPCA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PMPCA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PMM2 Ellen McDonagh gene: PMM2 was added
gene: PMM2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PMM2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PKHD1 Ellen McDonagh gene: PKHD1 was added
gene: PKHD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PKHD1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PKD2 Ellen McDonagh gene: PKD2 was added
gene: PKD2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PKD2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PKD1 Ellen McDonagh gene: PKD1 was added
gene: PKD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PKD1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PIGV Ellen McDonagh gene: PIGV was added
gene: PIGV was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PIGV was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PIGT Ellen McDonagh gene: PIGT was added
gene: PIGT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PIGT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PIGO Ellen McDonagh gene: PIGO was added
gene: PIGO was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PIGO was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PIGN Ellen McDonagh gene: PIGN was added
gene: PIGN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PIGN was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PIGM Ellen McDonagh gene: PIGM was added
gene: PIGM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PIGM was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PIGL Ellen McDonagh gene: PIGL was added
gene: PIGL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PIGL was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PIGA Ellen McDonagh gene: PIGA was added
gene: PIGA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PIGA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PHYH Ellen McDonagh gene: PHYH was added
gene: PHYH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PHYH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PHKG2 Ellen McDonagh gene: PHKG2 was added
gene: PHKG2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PHKG2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PHKB Ellen McDonagh gene: PHKB was added
gene: PHKB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PHKB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PHKA2 Ellen McDonagh gene: PHKA2 was added
gene: PHKA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PHKA2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PHKA1 Ellen McDonagh gene: PHKA1 was added
gene: PHKA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PHKA1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PHGDH Ellen McDonagh gene: PHGDH was added
gene: PHGDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PHGDH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PGM3 Ellen McDonagh gene: PGM3 was added
gene: PGM3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PGM3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PGM1 Ellen McDonagh gene: PGM1 was added
gene: PGM1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PGM1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PGK1 Ellen McDonagh gene: PGK1 was added
gene: PGK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PGK1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PGAP3 Ellen McDonagh gene: PGAP3 was added
gene: PGAP3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PGAP3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PGAP2 Ellen McDonagh gene: PGAP2 was added
gene: PGAP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PGAP2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PGAM2 Ellen McDonagh gene: PGAM2 was added
gene: PGAM2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PGAM2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PFKM Ellen McDonagh gene: PFKM was added
gene: PFKM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PFKM was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PEX7 Ellen McDonagh gene: PEX7 was added
gene: PEX7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX7 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PEX6 Ellen McDonagh gene: PEX6 was added
gene: PEX6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PEX5 Ellen McDonagh gene: PEX5 was added
gene: PEX5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX5 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PEX3 Ellen McDonagh gene: PEX3 was added
gene: PEX3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PEX26 Ellen McDonagh gene: PEX26 was added
gene: PEX26 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX26 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PEX2 Ellen McDonagh gene: PEX2 was added
gene: PEX2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PEX19 Ellen McDonagh gene: PEX19 was added
gene: PEX19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX19 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PEX16 Ellen McDonagh gene: PEX16 was added
gene: PEX16 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX16 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PEX14 Ellen McDonagh gene: PEX14 was added
gene: PEX14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX14 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PEX13 Ellen McDonagh gene: PEX13 was added
gene: PEX13 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX13 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PEX12 Ellen McDonagh gene: PEX12 was added
gene: PEX12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX12 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PEX11B Ellen McDonagh gene: PEX11B was added
gene: PEX11B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX11B was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PEX10 Ellen McDonagh gene: PEX10 was added
gene: PEX10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX10 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PEX1 Ellen McDonagh gene: PEX1 was added
gene: PEX1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PEPD Ellen McDonagh gene: PEPD was added
gene: PEPD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEPD was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PDSS2 Ellen McDonagh gene: PDSS2 was added
gene: PDSS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PDSS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PDSS1 Ellen McDonagh gene: PDSS1 was added
gene: PDSS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PDSS1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PDPR Ellen McDonagh gene: PDPR was added
gene: PDPR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PDPR was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PDP1 Ellen McDonagh gene: PDP1 was added
gene: PDP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PDP1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PDHB Ellen McDonagh gene: PDHB was added
gene: PDHB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PDHB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PDGFRB Ellen McDonagh gene: PDGFRB was added
gene: PDGFRB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PDGFRB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PCSK9 Ellen McDonagh gene: PCSK9 was added
gene: PCSK9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PCSK9 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PCK1 Ellen McDonagh gene: PCK1 was added
gene: PCK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PCK1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PCBD1 Ellen McDonagh gene: PCBD1 was added
gene: PCBD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PCBD1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PC Ellen McDonagh gene: PC was added
gene: PC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PC was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PAX6 Ellen McDonagh gene: PAX6 was added
gene: PAX6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PAX6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PARS2 Ellen McDonagh gene: PARS2 was added
gene: PARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PARS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PAH Ellen McDonagh gene: PAH was added
gene: PAH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PAH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 OXCT1 Ellen McDonagh gene: OXCT1 was added
gene: OXCT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: OXCT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 OTC Ellen McDonagh gene: OTC was added
gene: OTC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: OTC was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 OPLAH Ellen McDonagh gene: OPLAH was added
gene: OPLAH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: OPLAH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 OPHN1 Ellen McDonagh gene: OPHN1 was added
gene: OPHN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: OPHN1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 OPA1 Ellen McDonagh gene: OPA1 was added
gene: OPA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: OPA1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 OFD1 Ellen McDonagh gene: OFD1 was added
gene: OFD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: OFD1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 OCRL Ellen McDonagh gene: OCRL was added
gene: OCRL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: OCRL was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 OAT Ellen McDonagh gene: OAT was added
gene: OAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: OAT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NUBPL Ellen McDonagh gene: NUBPL was added
gene: NUBPL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NUBPL was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NT5C3A Ellen McDonagh gene: NT5C3A was added
gene: NT5C3A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NT5C3A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NSDHL Ellen McDonagh gene: NSDHL was added
gene: NSDHL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NSDHL was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NPHP4 Ellen McDonagh gene: NPHP4 was added
gene: NPHP4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NPHP4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NPHP3 Ellen McDonagh gene: NPHP3 was added
gene: NPHP3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NPHP3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NPHP1 Ellen McDonagh gene: NPHP1 was added
gene: NPHP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NPHP1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NHLRC1 Ellen McDonagh gene: NHLRC1 was added
gene: NHLRC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NHLRC1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NFU1 Ellen McDonagh gene: NFU1 was added
gene: NFU1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NFU1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NEU1 Ellen McDonagh gene: NEU1 was added
gene: NEU1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NEU1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NEK8 Ellen McDonagh gene: NEK8 was added
gene: NEK8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NEK8 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NEK1 Ellen McDonagh gene: NEK1 was added
gene: NEK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NEK1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFV2 Ellen McDonagh gene: NDUFV2 was added
gene: NDUFV2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFV2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFS6 Ellen McDonagh gene: NDUFS6 was added
gene: NDUFS6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFS6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFS3 Ellen McDonagh gene: NDUFS3 was added
gene: NDUFS3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFS3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFS2 Ellen McDonagh gene: NDUFS2 was added
gene: NDUFS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFB9 Ellen McDonagh gene: NDUFB9 was added
gene: NDUFB9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFB9 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFB3 Ellen McDonagh gene: NDUFB3 was added
gene: NDUFB3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFB3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFB11 Ellen McDonagh gene: NDUFB11 was added
gene: NDUFB11 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFB11 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFAF4 Ellen McDonagh gene: NDUFAF4 was added
gene: NDUFAF4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFAF4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFAF3 Ellen McDonagh gene: NDUFAF3 was added
gene: NDUFAF3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFAF3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFAF2 Ellen McDonagh gene: NDUFAF2 was added
gene: NDUFAF2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFAF2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFAF1 Ellen McDonagh gene: NDUFAF1 was added
gene: NDUFAF1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFAF1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFA4 Ellen McDonagh gene: NDUFA4 was added
gene: NDUFA4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFA4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFA2 Ellen McDonagh gene: NDUFA2 was added
gene: NDUFA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFA2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFA11 Ellen McDonagh gene: NDUFA11 was added
gene: NDUFA11 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFA11 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NARS2 Ellen McDonagh gene: NARS2 was added
gene: NARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NARS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NAGS Ellen McDonagh gene: NAGS was added
gene: NAGS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NAGS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NAGLU Ellen McDonagh gene: NAGLU was added
gene: NAGLU was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NAGLU was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NAGA Ellen McDonagh gene: NAGA was added
gene: NAGA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NAGA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MVK Ellen McDonagh gene: MVK was added
gene: MVK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MVK was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MUT Ellen McDonagh gene: MUT was added
gene: MUT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MUT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TY Ellen McDonagh gene: MT-TY was added
gene: MT-TY was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TY was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TW Ellen McDonagh gene: MT-TW was added
gene: MT-TW was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TW was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TV Ellen McDonagh gene: MT-TV was added
gene: MT-TV was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TT Ellen McDonagh gene: MT-TT was added
gene: MT-TT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TT was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TS2 Ellen McDonagh gene: MT-TS2 was added
gene: MT-TS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TS1 Ellen McDonagh gene: MT-TS1 was added
gene: MT-TS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TS1 was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TR Ellen McDonagh gene: MT-TR was added
gene: MT-TR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TR was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TQ Ellen McDonagh gene: MT-TQ was added
gene: MT-TQ was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TQ was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TP Ellen McDonagh gene: MT-TP was added
gene: MT-TP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MTTP Ellen McDonagh gene: MTTP was added
gene: MTTP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MTTP was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TN Ellen McDonagh gene: MT-TN was added
gene: MT-TN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TN was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TM Ellen McDonagh gene: MT-TM was added
gene: MT-TM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TM was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TL2 Ellen McDonagh gene: MT-TL2 was added
gene: MT-TL2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TL2 was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TL1 Ellen McDonagh gene: MT-TL1 was added
gene: MT-TL1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TI Ellen McDonagh gene: MT-TI was added
gene: MT-TI was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TH Ellen McDonagh gene: MT-TH was added
gene: MT-TH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TG Ellen McDonagh gene: MT-TG was added
gene: MT-TG was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TF Ellen McDonagh gene: MT-TF was added
gene: MT-TF was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TE Ellen McDonagh gene: MT-TE was added
gene: MT-TE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TD Ellen McDonagh gene: MT-TD was added
gene: MT-TD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TD was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TA Ellen McDonagh gene: MT-TA was added
gene: MT-TA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TA was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MTRR Ellen McDonagh gene: MTRR was added
gene: MTRR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MTRR was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-RNR2 Ellen McDonagh gene: MT-RNR2 was added
gene: MT-RNR2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-RNR2 was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-RNR1 Ellen McDonagh gene: MT-RNR1 was added
gene: MT-RNR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MTR Ellen McDonagh gene: MTR was added
gene: MTR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MTR was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MTPAP Ellen McDonagh gene: MTPAP was added
gene: MTPAP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MTPAP was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MTO1 Ellen McDonagh gene: MTO1 was added
gene: MTO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MTO1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-ND4L Ellen McDonagh gene: MT-ND4L was added
gene: MT-ND4L was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-ND4L was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-ND2 Ellen McDonagh gene: MT-ND2 was added
gene: MT-ND2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MTHFR Ellen McDonagh gene: MTHFR was added
gene: MTHFR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MTHFR was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-CYB Ellen McDonagh gene: MT-CYB was added
gene: MT-CYB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-CO2 Ellen McDonagh gene: MT-CO2 was added
gene: MT-CO2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-CO1 Ellen McDonagh gene: MT-CO1 was added
gene: MT-CO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-ATP8 Ellen McDonagh gene: MT-ATP8 was added
gene: MT-ATP8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MSMO1 Ellen McDonagh gene: MSMO1 was added
gene: MSMO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MSMO1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MRPS34 Ellen McDonagh gene: MRPS34 was added
gene: MRPS34 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MRPS34 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MRPS22 Ellen McDonagh gene: MRPS22 was added
gene: MRPS22 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MRPS22 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MRPL3 Ellen McDonagh gene: MRPL3 was added
gene: MRPL3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MRPL3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MPV17 Ellen McDonagh gene: MPV17 was added
gene: MPV17 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MPV17 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MPI Ellen McDonagh gene: MPI was added
gene: MPI was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MPI was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MPDU1 Ellen McDonagh gene: MPDU1 was added
gene: MPDU1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MPDU1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MOGS Ellen McDonagh gene: MOGS was added
gene: MOGS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MOGS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MOCS2 Ellen McDonagh gene: MOCS2 was added
gene: MOCS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MOCS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MOCS1 Ellen McDonagh gene: MOCS1 was added
gene: MOCS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MOCS1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MMADHC Ellen McDonagh gene: MMADHC was added
gene: MMADHC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MMADHC was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MMACHC Ellen McDonagh gene: MMACHC was added
gene: MMACHC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MMACHC was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MMAB Ellen McDonagh gene: MMAB was added
gene: MMAB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MMAB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MMAA Ellen McDonagh gene: MMAA was added
gene: MMAA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MMAA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MLYCD Ellen McDonagh gene: MLYCD was added
gene: MLYCD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MLYCD was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MKS1 Ellen McDonagh gene: MKS1 was added
gene: MKS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MKS1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MKKS Ellen McDonagh gene: MKKS was added
gene: MKKS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MKKS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MGME1 Ellen McDonagh gene: MGME1 was added
gene: MGME1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MGME1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MGAT2 Ellen McDonagh gene: MGAT2 was added
gene: MGAT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MGAT2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MFSD8 Ellen McDonagh gene: MFSD8 was added
gene: MFSD8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MFSD8 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MFN2 Ellen McDonagh gene: MFN2 was added
gene: MFN2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MFN2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MFF Ellen McDonagh gene: MFF was added
gene: MFF was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MFF was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MDH2 Ellen McDonagh gene: MDH2 was added
gene: MDH2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MDH2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MCOLN1 Ellen McDonagh gene: MCOLN1 was added
gene: MCOLN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MCOLN1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MCEE Ellen McDonagh gene: MCEE was added
gene: MCEE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MCEE was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MCCC2 Ellen McDonagh gene: MCCC2 was added
gene: MCCC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MCCC2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MCCC1 Ellen McDonagh gene: MCCC1 was added
gene: MCCC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MCCC1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MAT1A Ellen McDonagh gene: MAT1A was added
gene: MAT1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MAT1A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MAPKBP1 Ellen McDonagh gene: MAPKBP1 was added
gene: MAPKBP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MAPKBP1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MAOA Ellen McDonagh gene: MAOA was added
gene: MAOA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MAOA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MANBA Ellen McDonagh gene: MANBA was added
gene: MANBA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MANBA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MAN2B1 Ellen McDonagh gene: MAN2B1 was added
gene: MAN2B1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MAN2B1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MAN1B1 Ellen McDonagh gene: MAN1B1 was added
gene: MAN1B1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MAN1B1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MAGT1 Ellen McDonagh gene: MAGT1 was added
gene: MAGT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MAGT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 LZTFL1 Ellen McDonagh gene: LZTFL1 was added
gene: LZTFL1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LZTFL1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 LPL Ellen McDonagh gene: LPL was added
gene: LPL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LPL was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 LPIN1 Ellen McDonagh gene: LPIN1 was added
gene: LPIN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LPIN1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 LONP1 Ellen McDonagh gene: LONP1 was added
gene: LONP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LONP1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 LMBRD1 Ellen McDonagh gene: LMBRD1 was added
gene: LMBRD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LMBRD1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 LIPT1 Ellen McDonagh gene: LIPT1 was added
gene: LIPT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LIPT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 LIPC Ellen McDonagh gene: LIPC was added
gene: LIPC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LIPC was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 LIPA Ellen McDonagh gene: LIPA was added
gene: LIPA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LIPA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 LIAS Ellen McDonagh gene: LIAS was added
gene: LIAS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LIAS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 LDLRAP1 Ellen McDonagh gene: LDLRAP1 was added
gene: LDLRAP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LDLRAP1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 LDLR Ellen McDonagh gene: LDLR was added
gene: LDLR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LDLR was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 LDHA Ellen McDonagh gene: LDHA was added
gene: LDHA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LDHA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 LCT Ellen McDonagh gene: LCT was added
gene: LCT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LCT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 LCAT Ellen McDonagh gene: LCAT was added
gene: LCAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LCAT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 LBR Ellen McDonagh gene: LBR was added
gene: LBR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LBR was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 LARS2 Ellen McDonagh gene: LARS2 was added
gene: LARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LARS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 LARGE1 Ellen McDonagh gene: LARGE1 was added
gene: LARGE1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LARGE1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 LAMP2 Ellen McDonagh gene: LAMP2 was added
gene: LAMP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LAMP2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 L2HGDH Ellen McDonagh gene: L2HGDH was added
gene: L2HGDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: L2HGDH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 KYNU Ellen McDonagh gene: KYNU was added
gene: KYNU was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: KYNU was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 KIF7 Ellen McDonagh gene: KIF7 was added
gene: KIF7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: KIF7 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 KIAA0586 Ellen McDonagh gene: KIAA0586 was added
gene: KIAA0586 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: KIAA0586 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 KCNQ3 Ellen McDonagh gene: KCNQ3 was added
gene: KCNQ3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: KCNQ3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 KCNK18 Ellen McDonagh gene: KCNK18 was added
gene: KCNK18 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: KCNK18 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 KCNJ10 Ellen McDonagh gene: KCNJ10 was added
gene: KCNJ10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: KCNJ10 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 KARS Ellen McDonagh gene: KARS was added
gene: KARS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: KARS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 IVD Ellen McDonagh gene: IVD was added
gene: IVD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IVD was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ITPA Ellen McDonagh gene: ITPA was added
gene: ITPA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ITPA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ISPD Ellen McDonagh gene: ISPD was added
gene: ISPD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ISPD was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ISG15 Ellen McDonagh gene: ISG15 was added
gene: ISG15 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ISG15 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ISCU Ellen McDonagh gene: ISCU was added
gene: ISCU was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ISCU was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 IQCB1 Ellen McDonagh gene: IQCB1 was added
gene: IQCB1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IQCB1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 INVS Ellen McDonagh gene: INVS was added
gene: INVS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: INVS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 INPP5E Ellen McDonagh gene: INPP5E was added
gene: INPP5E was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: INPP5E was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 IFT80 Ellen McDonagh gene: IFT80 was added
gene: IFT80 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IFT80 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 IFT52 Ellen McDonagh gene: IFT52 was added
gene: IFT52 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IFT52 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 IFT43 Ellen McDonagh gene: IFT43 was added
gene: IFT43 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IFT43 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 IFT27 Ellen McDonagh gene: IFT27 was added
gene: IFT27 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IFT27 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 IFT172 Ellen McDonagh gene: IFT172 was added
gene: IFT172 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IFT172 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 IFT140 Ellen McDonagh gene: IFT140 was added
gene: IFT140 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IFT140 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 IFT122 Ellen McDonagh gene: IFT122 was added
gene: IFT122 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IFT122 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 IER3IP1 Ellen McDonagh gene: IER3IP1 was added
gene: IER3IP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IER3IP1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 IDUA Ellen McDonagh gene: IDUA was added
gene: IDUA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IDUA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 IDS Ellen McDonagh gene: IDS was added
gene: IDS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IDS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 IDH2 Ellen McDonagh gene: IDH2 was added
gene: IDH2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IDH2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ICK Ellen McDonagh gene: ICK was added
gene: ICK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ICK was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 IBA57 Ellen McDonagh gene: IBA57 was added
gene: IBA57 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IBA57 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 IARS2 Ellen McDonagh gene: IARS2 was added
gene: IARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IARS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HYLS1 Ellen McDonagh gene: HYLS1 was added
gene: HYLS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HYLS1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HYAL1 Ellen McDonagh gene: HYAL1 was added
gene: HYAL1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HYAL1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HSD3B7 Ellen McDonagh gene: HSD3B7 was added
gene: HSD3B7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HSD3B7 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HSD17B4 Ellen McDonagh gene: HSD17B4 was added
gene: HSD17B4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HSD17B4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HSD17B10 Ellen McDonagh gene: HSD17B10 was added
gene: HSD17B10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HSD17B10 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HPS1 Ellen McDonagh gene: HPS1 was added
gene: HPS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HPS1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HPRT1 Ellen McDonagh gene: HPRT1 was added
gene: HPRT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HPRT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HPD Ellen McDonagh gene: HPD was added
gene: HPD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HPD was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HOGA1 Ellen McDonagh gene: HOGA1 was added
gene: HOGA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HOGA1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HNF1B Ellen McDonagh gene: HNF1B was added
gene: HNF1B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HNF1B was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HMGCS2 Ellen McDonagh gene: HMGCS2 was added
gene: HMGCS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HMGCS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HMGCL Ellen McDonagh gene: HMGCL was added
gene: HMGCL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HMGCL was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HMBS Ellen McDonagh gene: HMBS was added
gene: HMBS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HMBS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HLCS Ellen McDonagh gene: HLCS was added
gene: HLCS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HLCS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HGSNAT Ellen McDonagh gene: HGSNAT was added
gene: HGSNAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HGSNAT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HGD Ellen McDonagh gene: HGD was added
gene: HGD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HGD was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HFE2 Ellen McDonagh gene: HFE2 was added
gene: HFE2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HFE2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HFE Ellen McDonagh gene: HFE was added
gene: HFE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HFE was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HEXB Ellen McDonagh gene: HEXB was added
gene: HEXB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HEXB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HCCS Ellen McDonagh gene: HCCS was added
gene: HCCS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HCCS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HAMP Ellen McDonagh gene: HAMP was added
gene: HAMP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HAMP was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HADHB Ellen McDonagh gene: HADHB was added
gene: HADHB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HADHB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HADHA Ellen McDonagh gene: HADHA was added
gene: HADHA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HADHA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HADH Ellen McDonagh gene: HADH was added
gene: HADH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HADH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HAAO Ellen McDonagh gene: HAAO was added
gene: HAAO was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HAAO was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GYS2 Ellen McDonagh gene: GYS2 was added
gene: GYS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GYS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GYS1 Ellen McDonagh gene: GYS1 was added
gene: GYS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GYS1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GYG1 Ellen McDonagh gene: GYG1 was added
gene: GYG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GYG1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GUSB Ellen McDonagh gene: GUSB was added
gene: GUSB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GUSB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GTPBP3 Ellen McDonagh gene: GTPBP3 was added
gene: GTPBP3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GTPBP3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GSS Ellen McDonagh gene: GSS was added
gene: GSS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GSS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GRHPR Ellen McDonagh gene: GRHPR was added
gene: GRHPR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GRHPR was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GPHN Ellen McDonagh gene: GPHN was added
gene: GPHN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GPHN was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GPD1 Ellen McDonagh gene: GPD1 was added
gene: GPD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GPD1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GPAA1 Ellen McDonagh gene: GPAA1 was added
gene: GPAA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GPAA1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GOSR2 Ellen McDonagh gene: GOSR2 was added
gene: GOSR2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GOSR2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GNS Ellen McDonagh gene: GNS was added
gene: GNS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GNS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GNPTG Ellen McDonagh gene: GNPTG was added
gene: GNPTG was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GNPTG was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GNPTAB Ellen McDonagh gene: GNPTAB was added
gene: GNPTAB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GNPTAB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GNPAT Ellen McDonagh gene: GNPAT was added
gene: GNPAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GNPAT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GNMT Ellen McDonagh gene: GNMT was added
gene: GNMT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GNMT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GNE Ellen McDonagh gene: GNE was added
gene: GNE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GNE was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GMPPB Ellen McDonagh gene: GMPPB was added
gene: GMPPB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GMPPB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GLYCTK Ellen McDonagh gene: GLYCTK was added
gene: GLYCTK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GLYCTK was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GLUL Ellen McDonagh gene: GLUL was added
gene: GLUL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GLUL was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GLUD1 Ellen McDonagh gene: GLUD1 was added
gene: GLUD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GLUD1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GLRX5 Ellen McDonagh gene: GLRX5 was added
gene: GLRX5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GLRX5 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GLRB Ellen McDonagh gene: GLRB was added
gene: GLRB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GLRB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GLIS2 Ellen McDonagh gene: GLIS2 was added
gene: GLIS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GLIS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GLI3 Ellen McDonagh gene: GLI3 was added
gene: GLI3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GLI3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GLDC Ellen McDonagh gene: GLDC was added
gene: GLDC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GLDC was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GLA Ellen McDonagh gene: GLA was added
gene: GLA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GLA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GK Ellen McDonagh gene: GK was added
gene: GK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GK was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GIF Ellen McDonagh gene: GIF was added
gene: GIF was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GIF was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GFPT1 Ellen McDonagh gene: GFPT1 was added
gene: GFPT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GFPT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GFM1 Ellen McDonagh gene: GFM1 was added
gene: GFM1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GFM1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GFER Ellen McDonagh gene: GFER was added
gene: GFER was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GFER was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GFAP Ellen McDonagh gene: GFAP was added
gene: GFAP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GFAP was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GDAP1 Ellen McDonagh gene: GDAP1 was added
gene: GDAP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GDAP1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GCLC Ellen McDonagh gene: GCLC was added
gene: GCLC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GCLC was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GBE1 Ellen McDonagh gene: GBE1 was added
gene: GBE1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GBE1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GBA2 Ellen McDonagh gene: GBA2 was added
gene: GBA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GBA2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GATM Ellen McDonagh gene: GATM was added
gene: GATM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GATM was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GARS Ellen McDonagh gene: GARS was added
gene: GARS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GARS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GAMT Ellen McDonagh gene: GAMT was added
gene: GAMT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GAMT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GALT Ellen McDonagh gene: GALT was added
gene: GALT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GALT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GALNT3 Ellen McDonagh gene: GALNT3 was added
gene: GALNT3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GALNT3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GALNS Ellen McDonagh gene: GALNS was added
gene: GALNS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GALNS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GALK1 Ellen McDonagh gene: GALK1 was added
gene: GALK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GALK1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GALE Ellen McDonagh gene: GALE was added
gene: GALE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GALE was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GALC Ellen McDonagh gene: GALC was added
gene: GALC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GALC was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GABRG2 Ellen McDonagh gene: GABRG2 was added
gene: GABRG2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GABRG2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GAA Ellen McDonagh gene: GAA was added
gene: GAA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GAA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 G6PC3 Ellen McDonagh gene: G6PC3 was added
gene: G6PC3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: G6PC3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 G6PC Ellen McDonagh gene: G6PC was added
gene: G6PC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: G6PC was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FUT8 Ellen McDonagh gene: FUT8 was added
gene: FUT8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FUT8 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FUCA1 Ellen McDonagh gene: FUCA1 was added
gene: FUCA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FUCA1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FTCD Ellen McDonagh gene: FTCD was added
gene: FTCD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FTCD was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FOXP2 Ellen McDonagh gene: FOXP2 was added
gene: FOXP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FOXP2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FMO3 Ellen McDonagh gene: FMO3 was added
gene: FMO3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FMO3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FLVCR1 Ellen McDonagh gene: FLVCR1 was added
gene: FLVCR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FLVCR1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FLAD1 Ellen McDonagh gene: FLAD1 was added
gene: FLAD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FLAD1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FKTN Ellen McDonagh gene: FKTN was added
gene: FKTN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FKTN was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FKRP Ellen McDonagh gene: FKRP was added
gene: FKRP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FKRP was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FH Ellen McDonagh gene: FH was added
gene: FH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FGFR2 Ellen McDonagh gene: FGFR2 was added
gene: FGFR2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FGFR2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FECH Ellen McDonagh gene: FECH was added
gene: FECH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FECH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FDXR Ellen McDonagh gene: FDXR was added
gene: FDXR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FDXR was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FBXL4 Ellen McDonagh gene: FBXL4 was added
gene: FBXL4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FBXL4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FBP1 Ellen McDonagh gene: FBP1 was added
gene: FBP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FBP1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FASTKD2 Ellen McDonagh gene: FASTKD2 was added
gene: FASTKD2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FASTKD2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FARS2 Ellen McDonagh gene: FARS2 was added
gene: FARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FARS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FAR1 Ellen McDonagh gene: FAR1 was added
gene: FAR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FAR1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FAH Ellen McDonagh gene: FAH was added
gene: FAH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FAH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 EXT2 Ellen McDonagh gene: EXT2 was added
gene: EXT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EXT2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 EXT1 Ellen McDonagh gene: EXT1 was added
gene: EXT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EXT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 EXOSC3 Ellen McDonagh gene: EXOSC3 was added
gene: EXOSC3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EXOSC3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 EVC2 Ellen McDonagh gene: EVC2 was added
gene: EVC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EVC2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 EVC Ellen McDonagh gene: EVC was added
gene: EVC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EVC was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ETHE1 Ellen McDonagh gene: ETHE1 was added
gene: ETHE1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ETHE1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ETFDH Ellen McDonagh gene: ETFDH was added
gene: ETFDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ETFDH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ETFB Ellen McDonagh gene: ETFB was added
gene: ETFB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ETFB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ETFA Ellen McDonagh gene: ETFA was added
gene: ETFA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ETFA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 EPM2A Ellen McDonagh gene: EPM2A was added
gene: EPM2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EPM2A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 EPG5 Ellen McDonagh gene: EPG5 was added
gene: EPG5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EPG5 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ENO3 Ellen McDonagh gene: ENO3 was added
gene: ENO3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ENO3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ELAC2 Ellen McDonagh gene: ELAC2 was added
gene: ELAC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ELAC2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 EIF2B5 Ellen McDonagh gene: EIF2B5 was added
gene: EIF2B5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EIF2B5 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 EIF2B4 Ellen McDonagh gene: EIF2B4 was added
gene: EIF2B4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EIF2B4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 EIF2B3 Ellen McDonagh gene: EIF2B3 was added
gene: EIF2B3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EIF2B3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 EIF2B2 Ellen McDonagh gene: EIF2B2 was added
gene: EIF2B2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EIF2B2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 EIF2B1 Ellen McDonagh gene: EIF2B1 was added
gene: EIF2B1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EIF2B1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 EBP Ellen McDonagh gene: EBP was added
gene: EBP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EBP was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 EARS2 Ellen McDonagh gene: EARS2 was added
gene: EARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EARS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DYNC2LI1 Ellen McDonagh gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DYNC2LI1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DYNC2H1 Ellen McDonagh gene: DYNC2H1 was added
gene: DYNC2H1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DYNC2H1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DYM Ellen McDonagh gene: DYM was added
gene: DYM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DYM was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DPYS Ellen McDonagh gene: DPYS was added
gene: DPYS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DPYS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DPYD Ellen McDonagh gene: DPYD was added
gene: DPYD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DPYD was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DPM3 Ellen McDonagh gene: DPM3 was added
gene: DPM3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DPM3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DPM2 Ellen McDonagh gene: DPM2 was added
gene: DPM2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DPM2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DPM1 Ellen McDonagh gene: DPM1 was added
gene: DPM1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DPM1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DPAGT1 Ellen McDonagh gene: DPAGT1 was added
gene: DPAGT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DPAGT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DOLK Ellen McDonagh gene: DOLK was added
gene: DOLK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DOLK was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DNMT1 Ellen McDonagh gene: DNMT1 was added
gene: DNMT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DNMT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DNM1L Ellen McDonagh gene: DNM1L was added
gene: DNM1L was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DNM1L was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DNAJC19 Ellen McDonagh gene: DNAJC19 was added
gene: DNAJC19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DNAJC19 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DNAH1 Ellen McDonagh gene: DNAH1 was added
gene: DNAH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DNAH1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DNA2 Ellen McDonagh gene: DNA2 was added
gene: DNA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DNA2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DMXL2 Ellen McDonagh gene: DMXL2 was added
gene: DMXL2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DMXL2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DKC1 Ellen McDonagh gene: DKC1 was added
gene: DKC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DKC1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DHTKD1 Ellen McDonagh gene: DHTKD1 was added
gene: DHTKD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DHTKD1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DHODH Ellen McDonagh gene: DHODH was added
gene: DHODH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DHODH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DHFR Ellen McDonagh gene: DHFR was added
gene: DHFR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DHFR was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DHDDS Ellen McDonagh gene: DHDDS was added
gene: DHDDS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DHDDS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DHCR7 Ellen McDonagh gene: DHCR7 was added
gene: DHCR7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DHCR7 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DHCR24 Ellen McDonagh gene: DHCR24 was added
gene: DHCR24 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DHCR24 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DGUOK Ellen McDonagh gene: DGUOK was added
gene: DGUOK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DGUOK was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DDX59 Ellen McDonagh gene: DDX59 was added
gene: DDX59 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DDX59 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DDHD2 Ellen McDonagh gene: DDHD2 was added
gene: DDHD2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DDHD2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DCXR Ellen McDonagh gene: DCXR was added
gene: DCXR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DCXR was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DCDC2 Ellen McDonagh gene: DCDC2 was added
gene: DCDC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DCDC2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DCC Ellen McDonagh gene: DCC was added
gene: DCC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DCC was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DBT Ellen McDonagh gene: DBT was added
gene: DBT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DBT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DBH Ellen McDonagh gene: DBH was added
gene: DBH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DBH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DARS2 Ellen McDonagh gene: DARS2 was added
gene: DARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DARS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DARS Ellen McDonagh gene: DARS was added
gene: DARS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DARS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DAG1 Ellen McDonagh gene: DAG1 was added
gene: DAG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DAG1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 D2HGDH Ellen McDonagh gene: D2HGDH was added
gene: D2HGDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: D2HGDH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CYP7B1 Ellen McDonagh gene: CYP7B1 was added
gene: CYP7B1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CYP7B1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CYP2U1 Ellen McDonagh gene: CYP2U1 was added
gene: CYP2U1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CYP2U1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CYCS Ellen McDonagh gene: CYCS was added
gene: CYCS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CYCS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CYC1 Ellen McDonagh gene: CYC1 was added
gene: CYC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CYC1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CUBN Ellen McDonagh gene: CUBN was added
gene: CUBN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CUBN was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CTSK Ellen McDonagh gene: CTSK was added
gene: CTSK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CTSK was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CTSC Ellen McDonagh gene: CTSC was added
gene: CTSC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CTSC was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CTSA Ellen McDonagh gene: CTSA was added
gene: CTSA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CTSA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CTNS Ellen McDonagh gene: CTNS was added
gene: CTNS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CTNS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CTH Ellen McDonagh gene: CTH was added
gene: CTH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CTH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CSPP1 Ellen McDonagh gene: CSPP1 was added
gene: CSPP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CSPP1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CRB2 Ellen McDonagh gene: CRB2 was added
gene: CRB2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CRB2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CPT2 Ellen McDonagh gene: CPT2 was added
gene: CPT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CPT2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CPT1A Ellen McDonagh gene: CPT1A was added
gene: CPT1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CPT1A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CPS1 Ellen McDonagh gene: CPS1 was added
gene: CPS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CPS1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CPOX Ellen McDonagh gene: CPOX was added
gene: CPOX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CPOX was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CP Ellen McDonagh gene: CP was added
gene: CP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CP was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COX7B Ellen McDonagh gene: COX7B was added
gene: COX7B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COX7B was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COX6B1 Ellen McDonagh gene: COX6B1 was added
gene: COX6B1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COX6B1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COX6A1 Ellen McDonagh gene: COX6A1 was added
gene: COX6A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COX6A1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COX20 Ellen McDonagh gene: COX20 was added
gene: COX20 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COX20 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COX14 Ellen McDonagh gene: COX14 was added
gene: COX14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COX14 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COQ9 Ellen McDonagh gene: COQ9 was added
gene: COQ9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COQ9 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COQ8B Ellen McDonagh gene: COQ8B was added
gene: COQ8B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COQ8B was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COQ8A Ellen McDonagh gene: COQ8A was added
gene: COQ8A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COQ8A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COQ6 Ellen McDonagh gene: COQ6 was added
gene: COQ6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COQ6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COQ4 Ellen McDonagh gene: COQ4 was added
gene: COQ4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COQ4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COQ2 Ellen McDonagh gene: COQ2 was added
gene: COQ2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COQ2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COG8 Ellen McDonagh gene: COG8 was added
gene: COG8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COG8 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COG7 Ellen McDonagh gene: COG7 was added
gene: COG7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COG7 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COG6 Ellen McDonagh gene: COG6 was added
gene: COG6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COG6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COG5 Ellen McDonagh gene: COG5 was added
gene: COG5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COG5 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COG4 Ellen McDonagh gene: COG4 was added
gene: COG4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COG4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COG1 Ellen McDonagh gene: COG1 was added
gene: COG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COG1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COA6 Ellen McDonagh gene: COA6 was added
gene: COA6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COA6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COA3 Ellen McDonagh gene: COA3 was added
gene: COA3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COA3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CNNM2 Ellen McDonagh gene: CNNM2 was added
gene: CNNM2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CNNM2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CLPP Ellen McDonagh gene: CLPP was added
gene: CLPP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CLPP was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CLN6 Ellen McDonagh gene: CLN6 was added
gene: CLN6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CLN6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CLDN19 Ellen McDonagh gene: CLDN19 was added
gene: CLDN19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CLDN19 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CLDN16 Ellen McDonagh gene: CLDN16 was added
gene: CLDN16 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CLDN16 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CLCN2 Ellen McDonagh gene: CLCN2 was added
gene: CLCN2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CLCN2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CISD2 Ellen McDonagh gene: CISD2 was added
gene: CISD2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CISD2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CHSY1 Ellen McDonagh gene: CHSY1 was added
gene: CHSY1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CHSY1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CHST6 Ellen McDonagh gene: CHST6 was added
gene: CHST6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CHST6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CHST3 Ellen McDonagh gene: CHST3 was added
gene: CHST3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CHST3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CHST14 Ellen McDonagh gene: CHST14 was added
gene: CHST14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CHST14 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CHMP2B Ellen McDonagh gene: CHMP2B was added
gene: CHMP2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CHMP2B was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CHMP1A Ellen McDonagh gene: CHMP1A was added
gene: CHMP1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CHMP1A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CHKB Ellen McDonagh gene: CHKB was added
gene: CHKB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CHKB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CHCHD10 Ellen McDonagh gene: CHCHD10 was added
gene: CHCHD10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CHCHD10 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CFAP43 Ellen McDonagh gene: CFAP43 was added
gene: CFAP43 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CFAP43 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CEP83 Ellen McDonagh gene: CEP83 was added
gene: CEP83 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CEP83 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CEP41 Ellen McDonagh gene: CEP41 was added
gene: CEP41 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CEP41 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CEP290 Ellen McDonagh gene: CEP290 was added
gene: CEP290 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CEP290 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CEP164 Ellen McDonagh gene: CEP164 was added
gene: CEP164 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CEP164 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CEP120 Ellen McDonagh gene: CEP120 was added
gene: CEP120 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CEP120 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CEP104 Ellen McDonagh gene: CEP104 was added
gene: CEP104 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CEP104 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CENPF Ellen McDonagh gene: CENPF was added
gene: CENPF was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CENPF was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CCDC115 Ellen McDonagh gene: CCDC115 was added
gene: CCDC115 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CCDC115 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CC2D2A Ellen McDonagh gene: CC2D2A was added
gene: CC2D2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CC2D2A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CBS Ellen McDonagh gene: CBS was added
gene: CBS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CBS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CAT Ellen McDonagh gene: CAT was added
gene: CAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CAT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CASK Ellen McDonagh gene: CASK was added
gene: CASK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CASK was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CAMTA1 Ellen McDonagh gene: CAMTA1 was added
gene: CAMTA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CAMTA1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CA5A Ellen McDonagh gene: CA5A was added
gene: CA5A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CA5A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 C5orf42 Ellen McDonagh gene: C5orf42 was added
gene: C5orf42 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: C5orf42 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 C2CD3 Ellen McDonagh gene: C2CD3 was added
gene: C2CD3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: C2CD3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 C21orf2 Ellen McDonagh gene: C21orf2 was added
gene: C21orf2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: C21orf2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 C1QBP Ellen McDonagh gene: C1QBP was added
gene: C1QBP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: C1QBP was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 C12orf65 Ellen McDonagh gene: C12orf65 was added
gene: C12orf65 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: C12orf65 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 BTD Ellen McDonagh gene: BTD was added
gene: BTD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BTD was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 BOLA3 Ellen McDonagh gene: BOLA3 was added
gene: BOLA3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BOLA3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 BCKDK Ellen McDonagh gene: BCKDK was added
gene: BCKDK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BCKDK was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 BCKDHB Ellen McDonagh gene: BCKDHB was added
gene: BCKDHB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BCKDHB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 BCKDHA Ellen McDonagh gene: BCKDHA was added
gene: BCKDHA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BCKDHA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 BBS9 Ellen McDonagh gene: BBS9 was added
gene: BBS9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BBS9 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 BBS7 Ellen McDonagh gene: BBS7 was added
gene: BBS7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BBS7 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 BBS5 Ellen McDonagh gene: BBS5 was added
gene: BBS5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BBS5 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 BBS4 Ellen McDonagh gene: BBS4 was added
gene: BBS4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BBS4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 BBS2 Ellen McDonagh gene: BBS2 was added
gene: BBS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BBS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 BBS12 Ellen McDonagh gene: BBS12 was added
gene: BBS12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BBS12 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 BBS10 Ellen McDonagh gene: BBS10 was added
gene: BBS10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BBS10 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 BBS1 Ellen McDonagh gene: BBS1 was added
gene: BBS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BBS1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 BAAT Ellen McDonagh gene: BAAT was added
gene: BAAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BAAT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 B9D2 Ellen McDonagh gene: B9D2 was added
gene: B9D2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: B9D2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 B4GAT1 Ellen McDonagh gene: B4GAT1 was added
gene: B4GAT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: B4GAT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 B4GALT7 Ellen McDonagh gene: B4GALT7 was added
gene: B4GALT7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: B4GALT7 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 B4GALT1 Ellen McDonagh gene: B4GALT1 was added
gene: B4GALT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: B4GALT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 B3GLCT Ellen McDonagh gene: B3GLCT was added
gene: B3GLCT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: B3GLCT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 B3GAT3 Ellen McDonagh gene: B3GAT3 was added
gene: B3GAT3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: B3GAT3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 B3GALT6 Ellen McDonagh gene: B3GALT6 was added
gene: B3GALT6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: B3GALT6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 B3GALNT2 Ellen McDonagh gene: B3GALNT2 was added
gene: B3GALNT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: B3GALNT2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 AUH Ellen McDonagh gene: AUH was added
gene: AUH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AUH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ATPAF2 Ellen McDonagh gene: ATPAF2 was added
gene: ATPAF2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ATPAF2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ATP8B1 Ellen McDonagh gene: ATP8B1 was added
gene: ATP8B1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ATP8B1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ATP8A2 Ellen McDonagh gene: ATP8A2 was added
gene: ATP8A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ATP8A2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ATP7A Ellen McDonagh gene: ATP7A was added
gene: ATP7A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ATP7A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ATP6V0A2 Ellen McDonagh gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ATP6V0A2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ATP6AP1 Ellen McDonagh gene: ATP6AP1 was added
gene: ATP6AP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ATP6AP1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ATIC Ellen McDonagh gene: ATIC was added
gene: ATIC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ATIC was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ATAD3A Ellen McDonagh gene: ATAD3A was added
gene: ATAD3A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ATAD3A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ASS1 Ellen McDonagh gene: ASS1 was added
gene: ASS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ASS1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ASPA Ellen McDonagh gene: ASPA was added
gene: ASPA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ASPA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ASL Ellen McDonagh gene: ASL was added
gene: ASL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ASL was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ASAH1 Ellen McDonagh gene: ASAH1 was added
gene: ASAH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ASAH1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ARSE Ellen McDonagh gene: ARSE was added
gene: ARSE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ARSE was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ARSB Ellen McDonagh gene: ARSB was added
gene: ARSB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ARSB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ARL6 Ellen McDonagh gene: ARL6 was added
gene: ARL6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ARL6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ARL13B Ellen McDonagh gene: ARL13B was added
gene: ARL13B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ARL13B was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ARG1 Ellen McDonagh gene: ARG1 was added
gene: ARG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ARG1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 APRT Ellen McDonagh gene: APRT was added
gene: APRT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: APRT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 APOPT1 Ellen McDonagh gene: APOPT1 was added
gene: APOPT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: APOPT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 APOE Ellen McDonagh gene: APOE was added
gene: APOE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: APOE was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 APOC2 Ellen McDonagh gene: APOC2 was added
gene: APOC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: APOC2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 APOB Ellen McDonagh gene: APOB was added
gene: APOB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: APOB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 APOA5 Ellen McDonagh gene: APOA5 was added
gene: APOA5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: APOA5 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 APOA1 Ellen McDonagh gene: APOA1 was added
gene: APOA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: APOA1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ANKS6 Ellen McDonagh gene: ANKS6 was added
gene: ANKS6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ANKS6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 AMT Ellen McDonagh gene: AMT was added
gene: AMT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AMT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 AMPD2 Ellen McDonagh gene: AMPD2 was added
gene: AMPD2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AMPD2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 AMN Ellen McDonagh gene: AMN was added
gene: AMN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AMN was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 AMACR Ellen McDonagh gene: AMACR was added
gene: AMACR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AMACR was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALPL Ellen McDonagh gene: ALPL was added
gene: ALPL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALPL was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALMS1 Ellen McDonagh gene: ALMS1 was added
gene: ALMS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALMS1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALG9 Ellen McDonagh gene: ALG9 was added
gene: ALG9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALG9 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALG8 Ellen McDonagh gene: ALG8 was added
gene: ALG8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALG8 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALG6 Ellen McDonagh gene: ALG6 was added
gene: ALG6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALG6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALG3 Ellen McDonagh gene: ALG3 was added
gene: ALG3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALG3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALG13 Ellen McDonagh gene: ALG13 was added
gene: ALG13 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALG13 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALG12 Ellen McDonagh gene: ALG12 was added
gene: ALG12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALG12 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALG11 Ellen McDonagh gene: ALG11 was added
gene: ALG11 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALG11 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALG1 Ellen McDonagh gene: ALG1 was added
gene: ALG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALG1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALDOB Ellen McDonagh gene: ALDOB was added
gene: ALDOB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALDOB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALDOA Ellen McDonagh gene: ALDOA was added
gene: ALDOA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALDOA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALDH7A1 Ellen McDonagh gene: ALDH7A1 was added
gene: ALDH7A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALDH7A1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALDH6A1 Ellen McDonagh gene: ALDH6A1 was added
gene: ALDH6A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALDH6A1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALDH5A1 Ellen McDonagh gene: ALDH5A1 was added
gene: ALDH5A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALDH5A1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALDH4A1 Ellen McDonagh gene: ALDH4A1 was added
gene: ALDH4A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALDH4A1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALDH3A2 Ellen McDonagh gene: ALDH3A2 was added
gene: ALDH3A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALDH3A2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALAS2 Ellen McDonagh gene: ALAS2 was added
gene: ALAS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALAS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALAD Ellen McDonagh gene: ALAD was added
gene: ALAD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALAD was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 AKR1D1 Ellen McDonagh gene: AKR1D1 was added
gene: AKR1D1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AKR1D1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 AIFM1 Ellen McDonagh gene: AIFM1 was added
gene: AIFM1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AIFM1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 AHI1 Ellen McDonagh gene: AHI1 was added
gene: AHI1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AHI1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 AGXT Ellen McDonagh gene: AGXT was added
gene: AGXT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AGXT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 AGPS Ellen McDonagh gene: AGPS was added
gene: AGPS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AGPS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 AGL Ellen McDonagh gene: AGL was added
gene: AGL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AGL was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 AGK Ellen McDonagh gene: AGK was added
gene: AGK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AGK was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 AGA Ellen McDonagh gene: AGA was added
gene: AGA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AGA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ADSL Ellen McDonagh gene: ADSL was added
gene: ADSL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ADSL was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ADGRG1 Ellen McDonagh gene: ADGRG1 was added
gene: ADGRG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ADGRG1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ADA Ellen McDonagh gene: ADA was added
gene: ADA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ADA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ACY1 Ellen McDonagh gene: ACY1 was added
gene: ACY1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ACY1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ACO2 Ellen McDonagh gene: ACO2 was added
gene: ACO2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ACO2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ACAT1 Ellen McDonagh gene: ACAT1 was added
gene: ACAT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ACAT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ACADVL Ellen McDonagh gene: ACADVL was added
gene: ACADVL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ACADVL was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ACADSB Ellen McDonagh gene: ACADSB was added
gene: ACADSB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ACADSB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ACADS Ellen McDonagh gene: ACADS was added
gene: ACADS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ACADS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ACADM Ellen McDonagh gene: ACADM was added
gene: ACADM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ACADM was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ACAD9 Ellen McDonagh gene: ACAD9 was added
gene: ACAD9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ACAD9 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ACAD8 Ellen McDonagh gene: ACAD8 was added
gene: ACAD8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ACAD8 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ABHD5 Ellen McDonagh gene: ABHD5 was added
gene: ABHD5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ABHD5 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ABHD12 Ellen McDonagh gene: ABHD12 was added
gene: ABHD12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ABHD12 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ABCG8 Ellen McDonagh gene: ABCG8 was added
gene: ABCG8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ABCG8 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ABCG5 Ellen McDonagh gene: ABCG5 was added
gene: ABCG5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ABCG5 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ABCD4 Ellen McDonagh gene: ABCD4 was added
gene: ABCD4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ABCD4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ABCD1 Ellen McDonagh gene: ABCD1 was added
gene: ABCD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ABCD1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ABCB4 Ellen McDonagh gene: ABCB4 was added
gene: ABCB4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ABCB4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ABCB11 Ellen McDonagh gene: ABCB11 was added
gene: ABCB11 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ABCB11 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ABCA1 Ellen McDonagh gene: ABCA1 was added
gene: ABCA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ABCA1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 AARS2 Ellen McDonagh gene: AARS2 was added
gene: AARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AARS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 WWOX Ellen McDonagh gene: WWOX was added
gene: WWOX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: WWOX was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 WFS1 Ellen McDonagh gene: WFS1 was added
gene: WFS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: WFS1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TTBK2 Ellen McDonagh gene: TTBK2 was added
gene: TTBK2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: TTBK2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TPP1 Ellen McDonagh gene: TPP1 was added
gene: TPP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: TPP1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TMEM240 Ellen McDonagh gene: TMEM240 was added
gene: TMEM240 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: TMEM240 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TGM6 Ellen McDonagh gene: TGM6 was added
gene: TGM6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: TGM6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 STUB1 Ellen McDonagh gene: STUB1 was added
gene: STUB1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: STUB1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SPG7 Ellen McDonagh gene: SPG7 was added
gene: SPG7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: SPG7 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SNX14 Ellen McDonagh gene: SNX14 was added
gene: SNX14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: SNX14 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC6A5 Ellen McDonagh gene: SLC6A5 was added
gene: SLC6A5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: SLC6A5 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC1A3 Ellen McDonagh gene: SLC1A3 was added
gene: SLC1A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: SLC1A3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SIL1 Ellen McDonagh gene: SIL1 was added
gene: SIL1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: SIL1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SCN1A Ellen McDonagh gene: SCN1A was added
gene: SCN1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: SCN1A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SACS Ellen McDonagh gene: SACS was added
gene: SACS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: SACS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PRKCG Ellen McDonagh gene: PRKCG was added
gene: PRKCG was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: PRKCG was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PPP2R2B Ellen McDonagh gene: PPP2R2B was added
gene: PPP2R2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: PPP2R2B was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PDYN Ellen McDonagh gene: PDYN was added
gene: PDYN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: PDYN was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NOP56 Ellen McDonagh gene: NOP56 was added
gene: NOP56 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: NOP56 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 KCND3 Ellen McDonagh gene: KCND3 was added
gene: KCND3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: KCND3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 KCNC3 Ellen McDonagh gene: KCNC3 was added
gene: KCNC3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: KCNC3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ITPR1 Ellen McDonagh gene: ITPR1 was added
gene: ITPR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: ITPR1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GRM1 Ellen McDonagh gene: GRM1 was added
gene: GRM1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: GRM1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GRID2 Ellen McDonagh gene: GRID2 was added
gene: GRID2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: GRID2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FGF14 Ellen McDonagh gene: FGF14 was added
gene: FGF14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: FGF14 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ELOVL4 Ellen McDonagh gene: ELOVL4 was added
gene: ELOVL4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: ELOVL4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DNAJC5 Ellen McDonagh gene: DNAJC5 was added
gene: DNAJC5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: DNAJC5 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DMPK Ellen McDonagh gene: DMPK was added
gene: DMPK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: DMPK was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CYP27A1 Ellen McDonagh gene: CYP27A1 was added
gene: CYP27A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: CYP27A1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CWF19L1 Ellen McDonagh gene: CWF19L1 was added
gene: CWF19L1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: CWF19L1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CTSD Ellen McDonagh gene: CTSD was added
gene: CTSD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: CTSD was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CLN8 Ellen McDonagh gene: CLN8 was added
gene: CLN8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: CLN8 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CIZ1 Ellen McDonagh gene: CIZ1 was added
gene: CIZ1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: CIZ1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CA8 Ellen McDonagh gene: CA8 was added
gene: CA8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: CA8 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ATXN7 Ellen McDonagh gene: ATXN7 was added
gene: ATXN7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: ATXN7 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ATXN10 Ellen McDonagh gene: ATXN10 was added
gene: ATXN10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: ATXN10 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ATXN1 Ellen McDonagh gene: ATXN1 was added
gene: ATXN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: ATXN1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ATCAY Ellen McDonagh gene: ATCAY was added
gene: ATCAY was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: ATCAY was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ANO10 Ellen McDonagh gene: ANO10 was added
gene: ANO10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: ANO10 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ACSF3 Ellen McDonagh gene: ACSF3 was added
gene: ACSF3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: ACSF3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ABCB7 Ellen McDonagh gene: ABCB7 was added
gene: ABCB7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: ABCB7 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 AASS Ellen McDonagh gene: AASS was added
gene: AASS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: AASS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 AAAS Ellen McDonagh gene: AAAS was added
gene: AAAS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: AAAS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ZSWIM6 Ellen McDonagh gene: ZSWIM6 was added
gene: ZSWIM6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ZSWIM6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 YY1 Ellen McDonagh gene: YY1 was added
gene: YY1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: YY1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 WDR73 Ellen McDonagh gene: WDR73 was added
gene: WDR73 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: WDR73 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 WDR45 Ellen McDonagh gene: WDR45 was added
gene: WDR45 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: WDR45 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 VPS13D Ellen McDonagh gene: VPS13D was added
gene: VPS13D was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: VPS13D was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 VPS13A Ellen McDonagh gene: VPS13A was added
gene: VPS13A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: VPS13A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 VAMP2 Ellen McDonagh gene: VAMP2 was added
gene: VAMP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: VAMP2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 VAMP1 Ellen McDonagh gene: VAMP1 was added
gene: VAMP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: VAMP1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 VAC14 Ellen McDonagh gene: VAC14 was added
gene: VAC14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: VAC14 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TUBB4A Ellen McDonagh gene: TUBB4A was added
gene: TUBB4A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: TUBB4A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TREX1 Ellen McDonagh gene: TREX1 was added
gene: TREX1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: TREX1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TOR1A Ellen McDonagh gene: TOR1A was added
gene: TOR1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: TOR1A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TIMM8A Ellen McDonagh gene: TIMM8A was added
gene: TIMM8A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: TIMM8A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 THAP1 Ellen McDonagh gene: THAP1 was added
gene: THAP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: THAP1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TH Ellen McDonagh gene: TH was added
gene: TH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: TH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 TAF1 Ellen McDonagh gene: TAF1 was added
gene: TAF1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: TAF1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SYNJ1 Ellen McDonagh gene: SYNJ1 was added
gene: SYNJ1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SYNJ1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SURF1 Ellen McDonagh gene: SURF1 was added
gene: SURF1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SURF1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SUCLA2 Ellen McDonagh gene: SUCLA2 was added
gene: SUCLA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SPR Ellen McDonagh gene: SPR was added
gene: SPR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SPR was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC6A8 Ellen McDonagh gene: SLC6A8 was added
gene: SLC6A8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SLC6A8 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC6A3 Ellen McDonagh gene: SLC6A3 was added
gene: SLC6A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SLC6A3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC39A14 Ellen McDonagh gene: SLC39A14 was added
gene: SLC39A14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC30A10 Ellen McDonagh gene: SLC30A10 was added
gene: SLC30A10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC2A1 Ellen McDonagh gene: SLC2A1 was added
gene: SLC2A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC20A2 Ellen McDonagh gene: SLC20A2 was added
gene: SLC20A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SLC20A2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SLC19A3 Ellen McDonagh gene: SLC19A3 was added
gene: SLC19A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SLC19A3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SGCE Ellen McDonagh gene: SGCE was added
gene: SGCE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SGCE was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SETX Ellen McDonagh gene: SETX was added
gene: SETX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SETX was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SERAC1 Ellen McDonagh gene: SERAC1 was added
gene: SERAC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SERAC1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SCN8A Ellen McDonagh gene: SCN8A was added
gene: SCN8A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SCN8A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 SAMHD1 Ellen McDonagh gene: SAMHD1 was added
gene: SAMHD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SAMHD1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RNASET2 Ellen McDonagh gene: RNASET2 was added
gene: RNASET2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: RNASET2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RNASEH2C Ellen McDonagh gene: RNASEH2C was added
gene: RNASEH2C was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: RNASEH2C was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RNASEH2B Ellen McDonagh gene: RNASEH2B was added
gene: RNASEH2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: RNASEH2B was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 RAB39B Ellen McDonagh gene: RAB39B was added
gene: RAB39B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: RAB39B was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 QDPR Ellen McDonagh gene: QDPR was added
gene: QDPR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: QDPR was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PTS Ellen McDonagh gene: PTS was added
gene: PTS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PTS was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PRRT2 Ellen McDonagh gene: PRRT2 was added
gene: PRRT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PRRT2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PRNP Ellen McDonagh gene: PRNP was added
gene: PRNP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PRNP was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PRKRA Ellen McDonagh gene: PRKRA was added
gene: PRKRA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PRKRA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PRKN Ellen McDonagh gene: PRKN was added
gene: PRKN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PRKN was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 POLR3A Ellen McDonagh gene: POLR3A was added
gene: POLR3A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: POLR3A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PNKP Ellen McDonagh gene: PNKP was added
gene: PNKP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PNKP was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PNKD Ellen McDonagh gene: PNKD was added
gene: PNKD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PNKD was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PLA2G6 Ellen McDonagh gene: PLA2G6 was added
gene: PLA2G6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PINK1 Ellen McDonagh gene: PINK1 was added
gene: PINK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PINK1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PET100 Ellen McDonagh gene: PET100 was added
gene: PET100 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PET100 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PDHX Ellen McDonagh gene: PDHX was added
gene: PDHX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PDHX was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PDHA1 Ellen McDonagh gene: PDHA1 was added
gene: PDHA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PDHA1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PDGFB Ellen McDonagh gene: PDGFB was added
gene: PDGFB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PDGFB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PDE2A Ellen McDonagh gene: PDE2A was added
gene: PDE2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PDE2A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PDE10A Ellen McDonagh gene: PDE10A was added
gene: PDE10A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PDE10A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PCCB Ellen McDonagh gene: PCCB was added
gene: PCCB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PCCB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PCCA Ellen McDonagh gene: PCCA was added
gene: PCCA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PCCA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PANK2 Ellen McDonagh gene: PANK2 was added
gene: PANK2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PANK2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 OPA3 Ellen McDonagh gene: OPA3 was added
gene: OPA3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: OPA3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 OCLN Ellen McDonagh gene: OCLN was added
gene: OCLN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: OCLN was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NPC2 Ellen McDonagh gene: NPC2 was added
gene: NPC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NPC2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NPC1 Ellen McDonagh gene: NPC1 was added
gene: NPC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NPC1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NKX6-2 Ellen McDonagh gene: NKX6-2 was added
gene: NKX6-2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NKX6-2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NGLY1 Ellen McDonagh gene: NGLY1 was added
gene: NGLY1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NGLY1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFV1 Ellen McDonagh gene: NDUFV1 was added
gene: NDUFV1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NDUFV1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFS8 Ellen McDonagh gene: NDUFS8 was added
gene: NDUFS8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NDUFS8 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFS7 Ellen McDonagh gene: NDUFS7 was added
gene: NDUFS7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NDUFS7 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFS4 Ellen McDonagh gene: NDUFS4 was added
gene: NDUFS4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NDUFS4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFS1 Ellen McDonagh gene: NDUFS1 was added
gene: NDUFS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NDUFS1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFAF6 Ellen McDonagh gene: NDUFAF6 was added
gene: NDUFAF6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NDUFAF6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFAF5 Ellen McDonagh gene: NDUFAF5 was added
gene: NDUFAF5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NDUFAF5 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFA10 Ellen McDonagh gene: NDUFA10 was added
gene: NDUFA10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NDUFA10 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 NDUFA1 Ellen McDonagh gene: NDUFA1 was added
gene: NDUFA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NDUFA1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TK Ellen McDonagh gene: MT-TK was added
gene: MT-TK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene gene: MT-TK was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TC Ellen McDonagh gene: MT-TC was added
gene: MT-TC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-ND6 Ellen McDonagh gene: MT-ND6 was added
gene: MT-ND6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-ND5 Ellen McDonagh gene: MT-ND5 was added
gene: MT-ND5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-ND4 Ellen McDonagh gene: MT-ND4 was added
gene: MT-ND4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-ND3 Ellen McDonagh gene: MT-ND3 was added
gene: MT-ND3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-ND1 Ellen McDonagh gene: MT-ND1 was added
gene: MT-ND1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MTFMT Ellen McDonagh gene: MTFMT was added
gene: MTFMT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: MTFMT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-CO3 Ellen McDonagh gene: MT-CO3 was added
gene: MT-CO3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-ATP6 Ellen McDonagh gene: MT-ATP6 was added
gene: MT-ATP6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder v0.0 MRE11 Ellen McDonagh gene: MRE11 was added
gene: MRE11 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: MRE11 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MECR Ellen McDonagh gene: MECR was added
gene: MECR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: MECR was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 MARS2 Ellen McDonagh gene: MARS2 was added
gene: MARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: MARS2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 LRPPRC Ellen McDonagh gene: LRPPRC was added
gene: LRPPRC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: LRPPRC was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 KMT2B Ellen McDonagh gene: KMT2B was added
gene: KMT2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: KMT2B was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 KIF1C Ellen McDonagh gene: KIF1C was added
gene: KIF1C was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: KIF1C was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 KCTD17 Ellen McDonagh gene: KCTD17 was added
gene: KCTD17 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: KCTD17 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 KCNQ2 Ellen McDonagh gene: KCNQ2 was added
gene: KCNQ2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: KCNQ2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 KCNMA1 Ellen McDonagh gene: KCNMA1 was added
gene: KCNMA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: KCNMA1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 KCNA1 Ellen McDonagh gene: KCNA1 was added
gene: KCNA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: KCNA1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 IFIH1 Ellen McDonagh gene: IFIH1 was added
gene: IFIH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: IFIH1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HTRA2 Ellen McDonagh gene: HTRA2 was added
gene: HTRA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: HTRA2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HSPD1 Ellen McDonagh gene: HSPD1 was added
gene: HSPD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: HSPD1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HPCA Ellen McDonagh gene: HPCA was added
gene: HPCA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: HPCA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HIBCH Ellen McDonagh gene: HIBCH was added
gene: HIBCH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: HIBCH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HEXA Ellen McDonagh gene: HEXA was added
gene: HEXA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: HEXA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 HCFC1 Ellen McDonagh gene: HCFC1 was added
gene: HCFC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: HCFC1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GTPBP2 Ellen McDonagh gene: GTPBP2 was added
gene: GTPBP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GTPBP2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GNAO1 Ellen McDonagh gene: GNAO1 was added
gene: GNAO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GNAO1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GNAL Ellen McDonagh gene: GNAL was added
gene: GNAL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GNAL was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GM2A Ellen McDonagh gene: GM2A was added
gene: GM2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GM2A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GLRA1 Ellen McDonagh gene: GLRA1 was added
gene: GLRA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GLRA1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GLB1 Ellen McDonagh gene: GLB1 was added
gene: GLB1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GLB1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GJC2 Ellen McDonagh gene: GJC2 was added
gene: GJC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GJC2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GCH1 Ellen McDonagh gene: GCH1 was added
gene: GCH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GCH1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GCDH Ellen McDonagh gene: GCDH was added
gene: GCDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GCDH was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 GBA Ellen McDonagh gene: GBA was added
gene: GBA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GBA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FXN Ellen McDonagh gene: FXN was added
gene: FXN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: FXN was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FTL Ellen McDonagh gene: FTL was added
gene: FTL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: FTL was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FOXRED1 Ellen McDonagh gene: FOXRED1 was added
gene: FOXRED1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: FOXRED1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FOLR1 Ellen McDonagh gene: FOLR1 was added
gene: FOLR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: FOLR1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FBXO7 Ellen McDonagh gene: FBXO7 was added
gene: FBXO7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: FBXO7 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 FA2H Ellen McDonagh gene: FA2H was added
gene: FA2H was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: FA2H was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ECHS1 Ellen McDonagh gene: ECHS1 was added
gene: ECHS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ECHS1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DNAJC12 Ellen McDonagh gene: DNAJC12 was added
gene: DNAJC12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: DNAJC12 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DLD Ellen McDonagh gene: DLD was added
gene: DLD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: DLD was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DLAT Ellen McDonagh gene: DLAT was added
gene: DLAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: DLAT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DDC Ellen McDonagh gene: DDC was added
gene: DDC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: DDC was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DCAF17 Ellen McDonagh gene: DCAF17 was added
gene: DCAF17 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: DCAF17 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CSTB Ellen McDonagh gene: CSTB was added
gene: CSTB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: CSTB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COX15 Ellen McDonagh gene: COX15 was added
gene: COX15 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: COX15 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COX10 Ellen McDonagh gene: COX10 was added
gene: COX10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: COX10 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COL6A3 Ellen McDonagh gene: COL6A3 was added
gene: COL6A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: COL6A3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 COASY Ellen McDonagh gene: COASY was added
gene: COASY was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: COASY was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CLPB Ellen McDonagh gene: CLPB was added
gene: CLPB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: CLPB was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CLN5 Ellen McDonagh gene: CLN5 was added
gene: CLN5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: CLN5 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CLN3 Ellen McDonagh gene: CLN3 was added
gene: CLN3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: CLN3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CACNB4 Ellen McDonagh gene: CACNB4 was added
gene: CACNB4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: CACNB4 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CACNA1G Ellen McDonagh gene: CACNA1G was added
gene: CACNA1G was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: CACNA1G was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CACNA1A Ellen McDonagh gene: CACNA1A was added
gene: CACNA1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: CACNA1A was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 C9orf72 Ellen McDonagh gene: C9orf72 was added
gene: C9orf72 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: C9orf72 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 C19orf12 Ellen McDonagh gene: C19orf12 was added
gene: C19orf12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: C19orf12 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 BCS1L Ellen McDonagh gene: BCS1L was added
gene: BCS1L was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: BCS1L was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 BCAP31 Ellen McDonagh gene: BCAP31 was added
gene: BCAP31 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: BCAP31 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ATP7B Ellen McDonagh gene: ATP7B was added
gene: ATP7B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ATP7B was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ATP1A3 Ellen McDonagh gene: ATP1A3 was added
gene: ATP1A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ATP1A3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ATP1A2 Ellen McDonagh gene: ATP1A2 was added
gene: ATP1A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ATP1A2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ATP13A2 Ellen McDonagh gene: ATP13A2 was added
gene: ATP13A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ATP13A2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ATM Ellen McDonagh gene: ATM was added
gene: ATM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ATM was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ARSA Ellen McDonagh gene: ARSA was added
gene: ARSA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ARSA was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 APTX Ellen McDonagh gene: APTX was added
gene: APTX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: APTX was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 AP1S2 Ellen McDonagh gene: AP1S2 was added
gene: AP1S2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: AP1S2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ANO3 Ellen McDonagh gene: ANO3 was added
gene: ANO3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ANO3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ALDH18A1 Ellen McDonagh gene: ALDH18A1 was added
gene: ALDH18A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 AFG3L2 Ellen McDonagh gene: AFG3L2 was added
gene: AFG3L2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: AFG3L2 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ADCY5 Ellen McDonagh gene: ADCY5 was added
gene: ADCY5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ADCY5 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ADAR Ellen McDonagh gene: ADAR was added
gene: ADAR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ADAR was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ACOX1 Ellen McDonagh gene: ACOX1 was added
gene: ACOX1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ACOX1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ABAT Ellen McDonagh gene: ABAT was added
gene: ABAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ABAT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 Ellen McDonagh Added panel Childhood onset dystonia or chorea or related movement disorder
Hypotonic infant v3.1266 Ellen McDonagh Panel name changed from Hypotonic infant with a likely central cause to Hypotonic infant
List of related panels changed from Floppy infant with a likely central cause; Hypotonic infant; R69 to Floppy infant with a likely central cause; Hypotonic infant with a likely central cause; R69
Fetal anomalies v0.371 ADNP Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Can have congenital heart defects.
Hereditary neuropathy v1.350 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green.
The gene has changed ratings as this panel was going to be used for R78, which was going to be broad panel, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/
The Test Group agreed that this Green gene was recommended for WGS panel based on broad phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP.
; to: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green.
The gene has changed ratings as this panel was going to be used for R78, which was going to be broad panel, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/
The Test Group agreed that this Green gene was recommended for WGS panel based on broad phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP.
Hereditary neuropathy or pain disorder v0.6 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents

; to: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/
Hereditary neuropathy or pain disorder v0.6 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL
The gene has changed ratings as the panel that was going to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents

; to: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents
Hereditary neuropathy or pain disorder v0.6 ABCA1 Louise Daugherty Classified gene: ABCA1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.6 ABCA1 Louise Daugherty Gene: abca1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.5 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL
The gene has changed ratings as the panel that was going to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents
Hereditary neuropathy v1.350 ABCA1 Louise Daugherty Classified gene: ABCA1 as Green List (high evidence)
Hereditary neuropathy v1.350 ABCA1 Louise Daugherty Gene: abca1 has been classified as Green List (High Evidence).
Hereditary neuropathy v1.349 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green.
The gene has changed ratings as this panel was going to be used for R78, which was going to be broad panel, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/
The Test Group agreed that this Green gene was recommended for WGS panel based on broad phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP.
Hereditary neuropathy or pain disorder v0.5 ABCA1 Louise Daugherty Deleted their comment
Congenital myopathy v1.234 ADSSL1 Louise Daugherty Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5 to Myopathy, distal, 5, 617030
Congenital myopathy v1.233 DOK7 Louise Daugherty Classified gene: DOK7 as Green List (high evidence)
Congenital myopathy v1.233 DOK7 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Red to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81 -some patients have a muscle biopsy and some minicores
Congenital myopathy v1.233 DOK7 Louise Daugherty Gene: dok7 has been classified as Green List (High Evidence).
Congenital myopathy v1.232 DOK7 Louise Daugherty edited their review of gene: DOK7: Changed rating: GREEN
Congenital myopathy v1.232 ADSSL1 Louise Daugherty Classified gene: ADSSL1 as Green List (high evidence)
Congenital myopathy v1.232 ADSSL1 Louise Daugherty Added comment: Comment on list classification: New Green gene suggested by Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) for R81
Congenital myopathy v1.232 ADSSL1 Louise Daugherty Gene: adssl1 has been classified as Green List (High Evidence).
Congenital myopathy v1.231 ADSSL1 Louise Daugherty Publications for gene: ADSSL1 were set to PMID: 28268051; 26506222
Congenital myopathy v1.230 PYROXD1 Louise Daugherty Classified gene: PYROXD1 as Green List (high evidence)
Congenital myopathy v1.230 PYROXD1 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Amber to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81
Congenital myopathy v1.230 PYROXD1 Louise Daugherty Gene: pyroxd1 has been classified as Green List (High Evidence).
Congenital myopathy v1.229 PYROXD1 Louise Daugherty Phenotypes for gene: PYROXD1 were changed from Myopathy, myofibrillar, 8, 617258; myopathy to Myopathy, myofibrillar, 8, 617258; myopathy; early-onset myopathy with internalized nuclei and myofibrillar disorganization
Congenital myopathy v1.228 MYF5 Louise Daugherty Classified gene: MYF5 as Amber List (moderate evidence)
Congenital myopathy v1.228 MYF5 Louise Daugherty Added comment: Comment on list classification: New Amber gene suggested by Anna Sarkozy (Great Ormond Street Hospital)
Congenital myopathy v1.228 MYF5 Louise Daugherty Gene: myf5 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.227 MYF5 Louise Daugherty Publications for gene: MYF5 were set to PMID: 29887215
Congenital myopathy v1.226 FXR1 Louise Daugherty Classified gene: FXR1 as Green List (high evidence)
Congenital myopathy v1.226 FXR1 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Amber to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81
Congenital myopathy v1.226 FXR1 Louise Daugherty Gene: fxr1 has been classified as Green List (High Evidence).
Congenital myopathy v1.225 RYR3 Louise Daugherty changed review comment from: Comment on list classification: Upgraded rating from Amber to Green. However Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81; to: Comment on list classification: Upgraded rating from Amber to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81
Congenital myopathy v1.225 CCDC78 Louise Daugherty changed review comment from: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81; to: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81
Congenital myopathy v1.225 RYR3 Louise Daugherty Classified gene: RYR3 as Green List (high evidence)
Congenital myopathy v1.225 RYR3 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Amber to Green. However Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81
Congenital myopathy v1.225 RYR3 Louise Daugherty Gene: ryr3 has been classified as Green List (High Evidence).
Congenital myopathy v1.224 CCDC78 Louise Daugherty changed review comment from: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend Green rating for R81; to: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81
Congenital myopathy v1.224 CCDC78 Louise Daugherty Classified gene: CCDC78 as Green List (high evidence)
Congenital myopathy v1.224 CCDC78 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend Green rating for R81
Congenital myopathy v1.224 CCDC78 Louise Daugherty Gene: ccdc78 has been classified as Green List (High Evidence).
Mosaic skin disorders - deep sequencing v0.19 PMVK Catherine Snow Classified gene: PMVK as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v0.19 PMVK Catherine Snow Gene: pmvk has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v0.18 MVD Catherine Snow Classified gene: MVD as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v0.18 MVD Catherine Snow Gene: mvd has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v0.17 FGFR2 Catherine Snow Classified gene: FGFR2 as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v0.17 FGFR2 Catherine Snow Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v0.16 RHOA Tom Cullup reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 31570889; Phenotypes: Blaschko-linear hypopigmentation syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 MVD Tom Cullup reviewed gene: MVD: Rating: AMBER; Mode of pathogenicity: ; Publications: 30942823; Phenotypes: Linear porokeratosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 PMVK Tom Cullup reviewed gene: PMVK: Rating: AMBER; Mode of pathogenicity: ; Publications: 30942823; Phenotypes: Linear porokeratosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 FGFR2 Tom Cullup reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: 9728990; Phenotypes: Epdermal naevi; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 CARD14 Tom Cullup reviewed gene: CARD14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ILVEN (submitted 2 cases); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 TYRP1 Tom Cullup reviewed gene: TYRP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Oculocutaneous albinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 TYR Tom Cullup reviewed gene: TYR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Oculocutaneous albinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 TERT Tom Cullup reviewed gene: TERT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, Melanoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 SPRED1 Tom Cullup reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27423141; Phenotypes: Legius syndrome (611431); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 SMO Tom Cullup reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 27236920; Phenotypes: Curry-Jones syndrome (601707); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 RASA1 Tom Cullup reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24038909, 30635911; Phenotypes: Capillary malformation-arteriovenous malformation syndrome (608354); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 PTPN11 Tom Cullup reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: ; Publications: Mosaic case series shortly to be published by Kinsler group; Phenotypes: Noonan syndrome with lentigines (LEOPARD)(151100), Speckled lentiginous naevus syndrome (deletion) and PPV spilorosea (missense activating like Leopard); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 PTEN Tom Cullup reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 10749983, 12471211; Phenotypes: Cowden syndrome (158350), Epidermal naevi, Melanoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 PIK3CA Tom Cullup reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22499344, 22729224, 29446767, 23100325; Phenotypes: PIK3CA-related overgrowth syndromes (613089, 612918, 615108, 155500), Vascular malformations, Epidermal naevus (162900); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 NRAS Tom Cullup reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22499344, 24006476, 10878667; Phenotypes: Melanocytic naevi (162900), Congenital melanocytic naevus syndrome, Noonan syndrome (613224); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 NOD2 Tom Cullup reviewed gene: NOD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Blau syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 NF1 Tom Cullup reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17668375, 14605872; Phenotypes: Neurofibromatosis type I (162200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 NDUFB11 Tom Cullup reviewed gene: NDUFB11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 MVK Tom Cullup reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: 24781643; Phenotypes: Actinic porokeratosis, porokeratosis of Mibelli (175900); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 MTOR Tom Cullup reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: ; Publications: 27159400; Phenotypes: Hypomelanosis of Ito/Blaschko-linear hypopigmentation (Focal cortical dysplasia type II, 607341); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 MAP3K3 Tom Cullup reviewed gene: MAP3K3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 25728774; Phenotypes: Verrucous haemangiomas; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 MAP2K1 Tom Cullup reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29461977; Phenotypes: Arteriovenous malformation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 KRT10 Tom Cullup reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: 29135017, 25495838; Phenotypes: Epidermolytic hyperkeratosis, Palmoplantar keratoderma, Pachyonychia congenita, Ichythosis with confetti; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 KRT1 Tom Cullup reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28532675, 17255957; Phenotypes: Epidermolytic hyperkeratosis, Ichthyosis histrix, Palmoplantar keratoderma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 KRAS Tom Cullup reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22499344, 22683711; Phenotypes: Epidermal naevi, Schimmelpenning syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 KITLG Tom Cullup reviewed gene: KITLG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive hyper- and hypopigmentation, Blaschko-linear hypopigmentation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 JAK2 Tom Cullup reviewed gene: JAK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Myelofibrosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 IDH2 Tom Cullup reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22057234; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 IDH1 Tom Cullup reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22057234; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 HRAS Tom Cullup reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22499344, 22683711, 24006476; Phenotypes: Epidermal naevi, Schimmelpenning syndrome, Phakomatosis pigmentokeratotica, Woolly hair, Costello syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 HCCS Tom Cullup reviewed gene: HCCS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 GNAS Tom Cullup reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 12970318; Phenotypes: McCune-Albright syndrome (174800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders - deep sequencing v0.16 GNAQ Tom Cullup reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 26778290; Phenotypes: Sturge Weber syndrome, Phakomatosis pigmentovascularis, Extensive dermal melanocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 GNA14 Tom Cullup reviewed gene: GNA14: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 27476652; Phenotypes: Kaposiform endothelioma, Tufted angioma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 GNA11 Tom Cullup reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 26778290; Phenotypes: Phakomatosis pigmentovascularis, Extensive dermal melanocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 FGFR3 Tom Cullup reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 16841094 , 22499344; Phenotypes: Epidermal naevi (162900), Syringocystadenoma papilliferum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 FGFR1 Tom Cullup reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 26942290; Phenotypes: Encephalocraniocutaneous Lipomatosis (613001); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 COX7B Tom Cullup reviewed gene: COX7B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mosaic skin disorders - deep sequencing v0.16 AKT3 Tom Cullup reviewed gene: AKT3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Overgrowth syndrome (not always mosaic in this case); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 AKT2 Tom Cullup reviewed gene: AKT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Overgrowth syndrome (not always mosaic in this case); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 AKT1 Tom Cullup reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 21793738; Phenotypes: Proteus syndrome (176920); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 ACTB Tom Cullup reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 28347698; Phenotypes: Becker naevus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.15 TYRP1 Catherine Snow Source Expert Review Removed was added to TYRP1.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 TYR Catherine Snow Source Expert Review Removed was added to TYR.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 TERT Catherine Snow Source Expert Review Removed was added to TERT.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 SPRED1 Catherine Snow Publications for gene SPRED1 were changed from to 27423141
Mosaic skin disorders - deep sequencing v0.15 SMO Catherine Snow Publications for gene SMO were changed from to 27236920
Mosaic skin disorders - deep sequencing v0.15 RASA1 Catherine Snow Publications for gene RASA1 were changed from to 24038909; 30635911
Mosaic skin disorders - deep sequencing v0.15 PTPN11 Catherine Snow Source Expert Review Amber was added to PTPN11.
Publications for gene PTPN11 were changed from to Mosaic case series shortly to be published by Kinsler group
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v0.15 PTEN Catherine Snow Publications for gene PTEN were changed from to 10749983; 12471211
Mosaic skin disorders - deep sequencing v0.15 PIK3CA Catherine Snow Publications for gene PIK3CA were changed from to 22499344; 22729224; 29446767; 23100325
Mosaic skin disorders - deep sequencing v0.15 NRAS Catherine Snow Publications for gene NRAS were changed from to 22499344; 10878667; 24006476
Mosaic skin disorders - deep sequencing v0.15 NOD2 Catherine Snow Source Expert Review Removed was added to NOD2.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 NF1 Catherine Snow Publications for gene NF1 were changed from to 14605872; 17668375
Mosaic skin disorders - deep sequencing v0.15 NDUFB11 Catherine Snow Source Expert Review Removed was added to NDUFB11.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 MVK Catherine Snow Source Expert Review Removed was added to MVK.
Publications for gene MVK were changed from to 24781643
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 MTOR Catherine Snow Publications for gene MTOR were changed from to 27159400
Mosaic skin disorders - deep sequencing v0.15 MAP3K3 Catherine Snow Publications for gene MAP3K3 were changed from to 25728774
Mosaic skin disorders - deep sequencing v0.15 MAP2K1 Catherine Snow Publications for gene MAP2K1 were changed from to 29461977
Mosaic skin disorders - deep sequencing v0.15 KRT10 Catherine Snow Publications for gene KRT10 were changed from to 29135017; 25495838
Mosaic skin disorders - deep sequencing v0.15 KRT1 Catherine Snow Publications for gene KRT1 were changed from to 28532675; 17255957
Mosaic skin disorders - deep sequencing v0.15 KRAS Catherine Snow Publications for gene KRAS were changed from to 22499344; 22683711
Mosaic skin disorders - deep sequencing v0.15 KITLG Catherine Snow Source Expert Review Removed was added to KITLG.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 JAK2 Catherine Snow Source Expert Review Removed was added to JAK2.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 IDH2 Catherine Snow Publications for gene IDH2 were changed from to 22057234
Mosaic skin disorders - deep sequencing v0.15 IDH1 Catherine Snow Publications for gene IDH1 were changed from to 22057234
Mosaic skin disorders - deep sequencing v0.15 HRAS Catherine Snow Publications for gene HRAS were changed from to 22499344; 22683711; 24006476
Mosaic skin disorders - deep sequencing v0.15 HCCS Catherine Snow Source Expert Review Removed was added to HCCS.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 GNAS Catherine Snow Publications for gene GNAS were changed from to 12970318
Mosaic skin disorders - deep sequencing v0.15 GNAQ Catherine Snow Publications for gene GNAQ were changed from to 26778290
Mosaic skin disorders - deep sequencing v0.15 GNA14 Catherine Snow Publications for gene GNA14 were changed from to 27476652
Mosaic skin disorders - deep sequencing v0.15 GNA11 Catherine Snow Publications for gene GNA11 were changed from to 26778290
Mosaic skin disorders - deep sequencing v0.15 FGFR3 Catherine Snow Publications for gene FGFR3 were changed from to 22499344; 16841094
Mosaic skin disorders - deep sequencing v0.15 FGFR1 Catherine Snow Publications for gene FGFR1 were changed from to 26942290
Mosaic skin disorders - deep sequencing v0.15 COX7B Catherine Snow Source Expert Review Removed was added to COX7B.
Mode of inheritance for gene COX7B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 AKT3 Catherine Snow Source Expert Review Removed was added to AKT3.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 AKT2 Catherine Snow Source Expert Review Removed was added to AKT2.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 AKT1 Catherine Snow Publications for gene AKT1 were changed from to 21793738
Mosaic skin disorders - deep sequencing v0.15 ACTB Catherine Snow Publications for gene ACTB were changed from to 28347698
Mosaic skin disorders - deep sequencing v0.14 RHOA Catherine Snow gene: RHOA was added
gene: RHOA was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green
Mode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHOA were set to 31570889
Phenotypes for gene: RHOA were set to Blaschko-linear hypopigmentation syndrome
Mosaic skin disorders - deep sequencing v0.14 MVD Catherine Snow gene: MVD was added
gene: MVD was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red
Mode of inheritance for gene: MVD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MVD were set to 30942823
Phenotypes for gene: MVD were set to Linear porokeratosis
Mosaic skin disorders - deep sequencing v0.14 PMVK Catherine Snow gene: PMVK was added
gene: PMVK was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red
Mode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PMVK were set to 30942823
Phenotypes for gene: PMVK were set to Linear porokeratosis
Mosaic skin disorders - deep sequencing v0.14 FGFR2 Catherine Snow gene: FGFR2 was added
gene: FGFR2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR2 were set to 9728990
Phenotypes for gene: FGFR2 were set to Epdermal naevi
Mosaic skin disorders - deep sequencing v0.14 CARD14 Catherine Snow gene: CARD14 was added
gene: CARD14 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red
Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CARD14 were set to ILVEN (submitted 2 cases)
Congenital myopathy v1.223 CCDC78 Anna Sarkozy edited their review of gene: CCDC78: Changed rating: GREEN
Congenital myopathy v1.223 CCDC78 Anna Sarkozy changed review comment from: there is so far a single family reported in literature. we only found class 3 variants in the HSS diagnostic series so far.; to: this can be upgraded to green
Congenital myopathy v1.223 RYR3 Anna Sarkozy reviewed gene: RYR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v1.223 FXR1 Anna Sarkozy reviewed gene: FXR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30770808; Phenotypes: congenital multi-minicore myopathy.; Mode of inheritance: None
Congenital myopathy v1.223 MYF5 Anna Sarkozy gene: MYF5 was added
gene: MYF5 was added to Congenital myopathy. Sources: Expert list,Literature
Mode of inheritance for gene: MYF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYF5 were set to PMID: 29887215
Phenotypes for gene: MYF5 were set to OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
Mode of pathogenicity for gene: MYF5 was set to Other
Review for gene: MYF5 was set to AMBER
Added comment: Sources: Expert list, Literature
Hereditary neuropathy v1.349 ABCA1 Louise Daugherty Deleted their comment
Congenital myopathy v1.223 PYROXD1 Anna Sarkozy reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27745833; Phenotypes: early-onset myopathy with internalized nuclei and myofibrillar disorganization; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.223 ADSSL1 Anna Sarkozy gene: ADSSL1 was added
gene: ADSSL1 was added to Congenital myopathy. Sources: Literature,Expert Review
Mode of inheritance for gene: ADSSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADSSL1 were set to PMID: 28268051; 26506222
Phenotypes for gene: ADSSL1 were set to Myopathy, distal, 5
Penetrance for gene: ADSSL1 were set to unknown
Mode of pathogenicity for gene: ADSSL1 was set to Other
Review for gene: ADSSL1 was set to GREEN
Added comment: Patient muscle samples showed decreased expression of the mutant missense protein and no expression of the truncated protein, which was attributed to increased degradation of the mutant proteins. In vitro studies in cultured mouse muscle cells and zebrafish indicated that the mutations resulted in a loss of function
Sources: Literature, Expert Review
Congenital myopathy v1.223 DOK7 Anna Sarkozy edited their review of gene: DOK7: Added comment: clinical and pathological overlap with CM, minicores on pathology; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.3 Ellen McDonagh Panel status changed from internal to public
Hereditary neuropathy v1.348 Ellen McDonagh List of related panels changed from Charcot-Marie-Tooth disease; R78 to Charcot-Marie-Tooth disease
Panel types changed to Rare Disease 100K
Hereditary neuropathy or pain disorder v0.2 Ellen McDonagh List of related panels changed from to R78
Panel types changed to GMS Rare Disease Virtual
Hereditary neuropathy or pain disorder v0.1 ZFYVE27 Ellen McDonagh gene: ZFYVE27 was added
gene: ZFYVE27 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: ZFYVE27 was set to
Phenotypes for gene: ZFYVE27 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 ZFYVE26 Ellen McDonagh gene: ZFYVE26 was added
gene: ZFYVE26 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to Hereditary Neuropathies; Onset second decade, spastic paraplegia, intellectual disability and cognitive decline, thin corpus callosum, mild cerebellar eye signs, axonal sensory-motor neuropathy, parkinsonism and dystonia, pseudobulbar involvement and pigmentry maculopathy; Spastic paraplegia 15, autosomal recessive, 270700
Hereditary neuropathy or pain disorder v0.1 XRCC1 Ellen McDonagh gene: XRCC1 was added
gene: XRCC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 29472272; 28002403
Phenotypes for gene: XRCC1 were set to Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy; Spinocerebellar ataxia, autosomal recessive 26, 617633
Hereditary neuropathy or pain disorder v0.1 XPA Ellen McDonagh gene: XPA was added
gene: XPA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPA were set to 2168777
Phenotypes for gene: XPA were set to Photosensitivity and increased risk of cutaneous malignancy, global developmental delay, deafness, sensory-motor axonal peripheral neuropathy; Xeroderma pigmentosum, group A, 278700
Hereditary neuropathy or pain disorder v0.1 XK Ellen McDonagh gene: XK was added
gene: XK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: XK were set to Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy; McLeod syndrome with or without chronic granulomatous disease, 300842
Hereditary neuropathy or pain disorder v0.1 WASHC5 Ellen McDonagh gene: WASHC5 was added
gene: WASHC5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: WASHC5 was set to
Publications for gene: WASHC5 were set to 27164712
Phenotypes for gene: WASHC5 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 VPS13A Ellen McDonagh gene: VPS13A was added
gene: VPS13A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13A were set to Choreoacanthocytosis, 200150; Choreoacanthocytosis. Onset 3rd to 5th decade, red cell acanthocytosis and progressive neurodegeneration, seizures, dysarthria, chorea, orofacial dyskinesia, psychiatric disturbance, axonal sensory-motor neuropathy, raised CK
Hereditary neuropathy or pain disorder v0.1 VCL Ellen McDonagh gene: VCL was added
gene: VCL was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: VCL was set to
Phenotypes for gene: VCL were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 TWNK Ellen McDonagh gene: TWNK was added
gene: TWNK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH
Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Hereditary Neuropathies; Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy
Hereditary neuropathy or pain disorder v0.1 TTPA Ellen McDonagh gene: TTPA was added
gene: TTPA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Hereditary Neuropathies; Early onset ataxia and sensory axonal neuropathy similar to Friedreich ataxia, head titubation, normal fat absorption unlike abetalipoproteinaemia, rarely retinitis pigmentosa
Hereditary neuropathy or pain disorder v0.1 TTN Ellen McDonagh gene: TTN was added
gene: TTN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TTN was set to
Phenotypes for gene: TTN were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 TTBK2 Ellen McDonagh gene: TTBK2 was added
gene: TTBK2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TTBK2 was set to
Phenotypes for gene: TTBK2 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 TRPA1 Ellen McDonagh gene: TRPA1 was added
gene: TRPA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: TRPA1 was set to
Hereditary neuropathy or pain disorder v0.1 TRIM2 Ellen McDonagh gene: TRIM2 was added
gene: TRIM2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review
Mode of inheritance for gene: TRIM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM2 were set to 25893792; 18687884; 23562820
Phenotypes for gene: TRIM2 were set to Charcot-Marie-Tooth disease, type 2R, 615490
Hereditary neuropathy or pain disorder v0.1 TPM1 Ellen McDonagh gene: TPM1 was added
gene: TPM1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TPM1 was set to
Phenotypes for gene: TPM1 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 TNNT2 Ellen McDonagh gene: TNNT2 was added
gene: TNNT2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TNNT2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 TNNI3 Ellen McDonagh gene: TNNI3 was added
gene: TNNI3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TNNI3 was set to
Phenotypes for gene: TNNI3 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 TNNC1 Ellen McDonagh gene: TNNC1 was added
gene: TNNC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TNNC1 was set to
Phenotypes for gene: TNNC1 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 TMEM43 Ellen McDonagh gene: TMEM43 was added
gene: TMEM43 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TMEM43 was set to
Phenotypes for gene: TMEM43 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 TDP1 Ellen McDonagh gene: TDP1 was added
gene: TDP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH
Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP1 were set to 12244316
Phenotypes for gene: TDP1 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 TCAP Ellen McDonagh gene: TCAP was added
gene: TCAP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TCAP was set to
Phenotypes for gene: TCAP were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 TAZ Ellen McDonagh gene: TAZ was added
gene: TAZ was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TAZ was set to
Phenotypes for gene: TAZ were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 SURF1 Ellen McDonagh gene: SURF1 was added
gene: SURF1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX IV deficiency, 256000; Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV
Hereditary neuropathy or pain disorder v0.1 SUCLA2 Ellen McDonagh gene: SUCLA2 was added
gene: SUCLA2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUCLA2 were set to 17287286
Phenotypes for gene: SUCLA2 were set to Leigh like syndrome, deafness, progressive dystonia, mild methylmaolic acidaemia; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
Hereditary neuropathy or pain disorder v0.1 SPTBN2 Ellen McDonagh gene: SPTBN2 was added
gene: SPTBN2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SPTBN2 was set to
Publications for gene: SPTBN2 were set to 28333917
Phenotypes for gene: SPTBN2 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 SPG7 Ellen McDonagh gene: SPG7 was added
gene: SPG7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG7 were set to Hereditary Neuropathies; Spastic paraplegia, optic atrophy, ataxia and sensory-motor axonal neuropathy in some patients
Hereditary neuropathy or pain disorder v0.1 SPG21 Ellen McDonagh gene: SPG21 was added
gene: SPG21 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SPG21 was set to
Phenotypes for gene: SPG21 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 SPART Ellen McDonagh gene: SPART was added
gene: SPART was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SPART was set to
Phenotypes for gene: SPART were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 SOX10 Ellen McDonagh gene: SOX10 was added
gene: SOX10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,South West GLH
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX10 were set to 21898658
Phenotypes for gene: SOX10 were set to Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266; PCWH syndrome, 609136; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease
Hereditary neuropathy or pain disorder v0.1 SOS1 Ellen McDonagh gene: SOS1 was added
gene: SOS1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SOS1 was set to
Phenotypes for gene: SOS1 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 SLC5A7 Ellen McDonagh gene: SLC5A7 was added
gene: SLC5A7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review
Mode of inheritance for gene: SLC5A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC5A7 were set to 23141292; 29782645
Phenotypes for gene: SLC5A7 were set to Neuronopathy, distal hereditary motor, type VIIA
Hereditary neuropathy or pain disorder v0.1 SLC52A1 Ellen McDonagh gene: SLC52A1 was added
gene: SLC52A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Red,South West GLH
Mode of inheritance for gene: SLC52A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC52A1 were set to Riboflavin deficiency; dHMN
Hereditary neuropathy or pain disorder v0.1 SLC25A46 Ellen McDonagh gene: SLC25A46 was added
gene: SLC25A46 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A46 were set to 26168012
Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505; Optic atrophy and progressive visual loss in the 1st decade, then spasticity, cerebellar ataxia, sensory-motor axonal neuropathy
Hereditary neuropathy or pain disorder v0.1 SLC25A19 Ellen McDonagh gene: SLC25A19 was added
gene: SLC25A19 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A19 were set to 19798730
Phenotypes for gene: SLC25A19 were set to Acute encephalopathic episodes and paralysis following febrile illness with almost complete recovery. Absent sensory-motor action potential during illness. Bilateral striatal necrosis on MRI. Additional chronic progressive axonal neuropathy; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710
Hereditary neuropathy or pain disorder v0.1 SLC1A3 Ellen McDonagh gene: SLC1A3 was added
gene: SLC1A3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SLC1A3 was set to
Phenotypes for gene: SLC1A3 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 SIL1 Ellen McDonagh gene: SIL1 was added
gene: SIL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SIL1 was set to
Phenotypes for gene: SIL1 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 SGCD Ellen McDonagh gene: SGCD was added
gene: SGCD was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SGCD was set to
Phenotypes for gene: SGCD were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 SELENOI Ellen McDonagh gene: SELENOI was added
gene: SELENOI was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SELENOI were set to Infantile onset, global developmental delay, spasticity, periventricular white mater signal change on MRI, peripheral neuropathy with SNCV. Seizures and bifid uvula in some affected individuals
Hereditary neuropathy or pain disorder v0.1 SCYL1 Ellen McDonagh gene: SCYL1 was added
gene: SCYL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL1 were set to 26581903
Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, 616719; Early onset ataxia (<1 yr) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
Hereditary neuropathy or pain disorder v0.1 SCP2 Ellen McDonagh gene: SCP2 was added
gene: SCP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCP2 were set to 16685654
Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy, 613724; Dystonia, hyposmia, azoospermia, motor predominant axonal neuropathy, bilateral thalamic T2 high signal on MRI
Hereditary neuropathy or pain disorder v0.1 SCN5A Ellen McDonagh gene: SCN5A was added
gene: SCN5A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SCN5A was set to
Phenotypes for gene: SCN5A were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 SCN10A Ellen McDonagh gene: SCN10A was added
gene: SCN10A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SCN10A was set to
Hereditary neuropathy or pain disorder v0.1 SCARB2 Ellen McDonagh gene: SCARB2 was added
gene: SCARB2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCARB2 were set to 19597094; 21670406
Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure, 254900; Progressive myoclonic epilepsy with preserved cognition, onset 2nd decade, renal impairment, rarely demyelinating sensory-motor neuropathy (without renal failure)
Hereditary neuropathy or pain disorder v0.1 SBF1 Ellen McDonagh gene: SBF1 was added
gene: SBF1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review
Mode of inheritance for gene: SBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SBF1 were set to 23749797; 28005197; 21210780; 24799518
Phenotypes for gene: SBF1 were set to Charcot-Marie-Tooth disease, type 4B3, 615284
Hereditary neuropathy or pain disorder v0.1 RYR2 Ellen McDonagh gene: RYR2 was added
gene: RYR2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: RYR2 was set to
Phenotypes for gene: RYR2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 RIT1 Ellen McDonagh gene: RIT1 was added
gene: RIT1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: RIT1 was set to
Phenotypes for gene: RIT1 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 RBM20 Ellen McDonagh gene: RBM20 was added
gene: RBM20 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: RBM20 was set to
Phenotypes for gene: RBM20 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 RAF1 Ellen McDonagh gene: RAF1 was added
gene: RAF1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: RAF1 was set to
Phenotypes for gene: RAF1 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 PTRH2 Ellen McDonagh gene: PTRH2 was added
gene: PTRH2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRH2 were set to 25572476; 25558065
Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263; Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy
Hereditary neuropathy or pain disorder v0.1 PTPN11 Ellen McDonagh gene: PTPN11 was added
gene: PTPN11 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN11 were set to 25884655; 26952712; 26337637
Phenotypes for gene: PTPN11 were set to Cardiomyopathy; Congenital heart defect, multiple lentigines, hypertrophic neuropathy of lumbar plexus
Hereditary neuropathy or pain disorder v0.1 PTEN Ellen McDonagh gene: PTEN was added
gene: PTEN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTEN were set to Cowden syndrome 1, 158350; multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas
Hereditary neuropathy or pain disorder v0.1 PRKCG Ellen McDonagh gene: PRKCG was added
gene: PRKCG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKCG were set to 26633542; 29603387
Phenotypes for gene: PRKCG were set to Hereditary Neuropathies; Spinocerebellar ataxia 14, 605361; Usually adult onset isolated cerebellar ataxia. Missense mutation in catalytic domain of exon 11 associated with complex syndrome including cerebellar ataxia, sensory motor axonal neuropathy, parkinsonism, dystonia, myoclonus and pyramidal syndrome
Hereditary neuropathy or pain disorder v0.1 PRKAG2 Ellen McDonagh gene: PRKAG2 was added
gene: PRKAG2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: PRKAG2 was set to
Phenotypes for gene: PRKAG2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 PPOX Ellen McDonagh gene: PPOX was added
gene: PPOX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPOX were set to Porphyria variegata, 176200; Skin photosensitivity. Acute episodes similar to AIP
Hereditary neuropathy or pain disorder v0.1 POLR3A Ellen McDonagh gene: POLR3A was added
gene: POLR3A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3A were set to 28459997
Phenotypes for gene: POLR3A were set to Bilateral hyperintensities on MRI from the superior cerebellar peduncle to the dentate nucleus / midbrain; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications
Hereditary neuropathy or pain disorder v0.1 PNPLA6 Ellen McDonagh gene: PNPLA6 was added
gene: PNPLA6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA6 were set to 24355708
Phenotypes for gene: PNPLA6 were set to Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia; progressive distal motor neuropathy beginning in early through late adolescence
Hereditary neuropathy or pain disorder v0.1 PNKP Ellen McDonagh gene: PNKP was added
gene: PNKP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNKP were set to 30039206
Phenotypes for gene: PNKP were set to Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Microcephaly, seizures, and developmental delay, 613402; Ataxia-oculomotor apraxia 4, 616267
Hereditary neuropathy or pain disorder v0.1 PMP2 Ellen McDonagh gene: PMP2 was added
gene: PMP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PMP2 were set to Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279
Hereditary neuropathy or pain disorder v0.1 PMM2 Ellen McDonagh gene: PMM2 was added
gene: PMM2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to 9140401
Phenotypes for gene: PMM2 were set to Neonatal onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy; Congenital disorder of glycosylation, type Ia, 212065
Hereditary neuropathy or pain disorder v0.1 PLP1 Ellen McDonagh gene: PLP1 was added
gene: PLP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Red,South West GLH
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 PLN Ellen McDonagh gene: PLN was added
gene: PLN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: PLN was set to
Phenotypes for gene: PLN were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 PKP2 Ellen McDonagh gene: PKP2 was added
gene: PKP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: PKP2 was set to
Phenotypes for gene: PKP2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 PEX10 Ellen McDonagh gene: PEX10 was added
gene: PEX10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PEX10 was set to
Publications for gene: PEX10 were set to 27230853; 20695019
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger), 614870; Failure to thrive, facial dismorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described; Peroxisome biogenesis disorder 6B, 614871
Hereditary neuropathy or pain disorder v0.1 PDYN Ellen McDonagh gene: PDYN was added
gene: PDYN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDYN were set to 21035104
Phenotypes for gene: PDYN were set to Spinocerebellar ataxia 23, 610245; Cerebellar ataxia, sensory-motor axonal neuropathy
Hereditary neuropathy or pain disorder v0.1 PDLIM3 Ellen McDonagh gene: PDLIM3 was added
gene: PDLIM3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: PDLIM3 was set to
Phenotypes for gene: PDLIM3 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 PDK3 Ellen McDonagh gene: PDK3 was added
gene: PDK3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PDK3 were set to 26801680; 23297365
Phenotypes for gene: PDK3 were set to ?Charcot Marie Tooth disease, X linked dominant, 6, 300905
Hereditary neuropathy or pain disorder v0.1 OPA3 Ellen McDonagh gene: OPA3 was added
gene: OPA3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: OPA3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction; Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria, type III, 258501
Hereditary neuropathy or pain disorder v0.1 OPA1 Ellen McDonagh gene: OPA1 was added
gene: OPA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OPA1 were set to Optic atrophy 1, 165500; Optic neuropathy, PEO, deafness, myelopathy, sensory-motor axonal neuropathy; Optic atrophy plus syndrome, 125250
Hereditary neuropathy or pain disorder v0.1 NRAS Ellen McDonagh gene: NRAS was added
gene: NRAS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: NRAS was set to
Phenotypes for gene: NRAS were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 NIPA1 Ellen McDonagh gene: NIPA1 was added
gene: NIPA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NIPA1 were set to 14508710; 15711826; 21419568; 22302102; 15643603
Phenotypes for gene: NIPA1 were set to Hereditary Neuropathies; Spastic paraplegia 6, autosomal dominant
Hereditary neuropathy or pain disorder v0.1 NEXN Ellen McDonagh gene: NEXN was added
gene: NEXN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: NEXN was set to
Phenotypes for gene: NEXN were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 NEFH Ellen McDonagh gene: NEFH was added
gene: NEFH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NEFH were set to Charcot-Marie-Tooth disease, axonal, type 2CC, 616924
Hereditary neuropathy or pain disorder v0.1 NEBL Ellen McDonagh gene: NEBL was added
gene: NEBL was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: NEBL was set to
Phenotypes for gene: NEBL were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 NAGLU Ellen McDonagh gene: NAGLU was added
gene: NAGLU was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH
Mode of inheritance for gene: NAGLU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NAGLU were set to 25818867
Phenotypes for gene: NAGLU were set to ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491
Hereditary neuropathy or pain disorder v0.1 NAGA Ellen McDonagh gene: NAGA was added
gene: NAGA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAGA were set to 15136691
Phenotypes for gene: NAGA were set to Kanzaki disease, 609242; Kanzaki disease. Adult onset diffuse angiokeratoma, sensory-neural hearing loss, recurrent episodes of vertigo, sensory-motor axonal neuropathy. Periventricular white matter abnormalities on MRI
Hereditary neuropathy or pain disorder v0.1 MYPN Ellen McDonagh gene: MYPN was added
gene: MYPN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYPN was set to
Phenotypes for gene: MYPN were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 MYOZ2 Ellen McDonagh gene: MYOZ2 was added
gene: MYOZ2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYOZ2 was set to
Phenotypes for gene: MYOZ2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 MYL3 Ellen McDonagh gene: MYL3 was added
gene: MYL3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYL3 was set to
Phenotypes for gene: MYL3 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 MYL2 Ellen McDonagh gene: MYL2 was added
gene: MYL2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYL2 was set to
Phenotypes for gene: MYL2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 MYH7 Ellen McDonagh gene: MYH7 was added
gene: MYH7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYH7 was set to
Phenotypes for gene: MYH7 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 MYH6 Ellen McDonagh gene: MYH6 was added
gene: MYH6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYH6 was set to
Phenotypes for gene: MYH6 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 MYH14 Ellen McDonagh gene: MYH14 was added
gene: MYH14 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review
Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH14 were set to 30373780; 21480433; 27875632
Phenotypes for gene: MYH14 were set to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
Hereditary neuropathy or pain disorder v0.1 MYBPC3 Ellen McDonagh gene: MYBPC3 was added
gene: MYBPC3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYBPC3 was set to
Phenotypes for gene: MYBPC3 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 MTTP Ellen McDonagh gene: MTTP was added
gene: MTTP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: MTTP was set to
Publications for gene: MTTP were set to 2991816
Phenotypes for gene: MTTP were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 MT-TL1 Ellen McDonagh gene: MT-TL1 was added
gene: MT-TL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TL1 were set to Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy
Hereditary neuropathy or pain disorder v0.1 MT-RNR1 Ellen McDonagh gene: MT-RNR1 was added
gene: MT-RNR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-RNR1 were set to Parkinsonism, deafness, and sensory-motor axonal neuropathy
Hereditary neuropathy or pain disorder v0.1 MRE11 Ellen McDonagh gene: MRE11 was added
gene: MRE11 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MRE11 was set to
Phenotypes for gene: MRE11 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 MMACHC Ellen McDonagh gene: MMACHC was added
gene: MMACHC was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 20610126
Phenotypes for gene: MMACHC were set to Onset infancy to adulthood; Methylmalonic aciduria and homocystinuria, cblC type, 277400; thrombotic thrombocytopenia with encephalopathy, myelopathy, renal and pulmonary complications (can be life threatening), retinitis pigmentosa, axonal motor neuropathy. Treated with high dose vitamin B12
Hereditary neuropathy or pain disorder v0.1 MED25 Ellen McDonagh gene: MED25 was added
gene: MED25 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED25 were set to 19290556
Phenotypes for gene: MED25 were set to Charcot Marie Tooth disease, type 2B2, 605589
Hereditary neuropathy or pain disorder v0.1 MCM3AP Ellen McDonagh gene: MCM3AP was added
gene: MCM3AP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
Hereditary neuropathy or pain disorder v0.1 MARS Ellen McDonagh gene: MARS was added
gene: MARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review
Mode of inheritance for gene: MARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MARS were set to 23729695; 29655802
Phenotypes for gene: MARS were set to Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Hereditary neuropathy or pain disorder v0.1 MAP2K2 Ellen McDonagh gene: MAP2K2 was added
gene: MAP2K2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MAP2K2 was set to
Phenotypes for gene: MAP2K2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 MAP2K1 Ellen McDonagh gene: MAP2K1 was added
gene: MAP2K1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MAP2K1 was set to
Phenotypes for gene: MAP2K1 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 LYST Ellen McDonagh gene: LYST was added
gene: LYST was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 27669550
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, 214500; Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy
Hereditary neuropathy or pain disorder v0.1 LDB3 Ellen McDonagh gene: LDB3 was added
gene: LDB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: LDB3 was set to
Phenotypes for gene: LDB3 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 LAS1L Ellen McDonagh gene: LAS1L was added
gene: LAS1L was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH
Mode of inheritance for gene: LAS1L was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: LAS1L were set to 24647030
Hereditary neuropathy or pain disorder v0.1 LAMP2 Ellen McDonagh gene: LAMP2 was added
gene: LAMP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: LAMP2 was set to
Phenotypes for gene: LAMP2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 LAMA4 Ellen McDonagh gene: LAMA4 was added
gene: LAMA4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: LAMA4 was set to
Phenotypes for gene: LAMA4 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 L1CAM Ellen McDonagh gene: L1CAM was added
gene: L1CAM was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: L1CAM was set to
Phenotypes for gene: L1CAM were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 KRAS Ellen McDonagh gene: KRAS was added
gene: KRAS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: KRAS was set to
Phenotypes for gene: KRAS were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 KLC2 Ellen McDonagh gene: KLC2 was added
gene: KLC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLC2 were set to 26385635
Phenotypes for gene: KLC2 were set to SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy; Spastic paraplegia, optic atrophy, and neuropathy, 609541
Hereditary neuropathy or pain disorder v0.1 KIF1B Ellen McDonagh gene: KIF1B was added
gene: KIF1B was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF1B were set to 11389829; 25802885
Phenotypes for gene: KIF1B were set to Charcot Marie Tooth disease, type 2A1, 118210
Hereditary neuropathy or pain disorder v0.1 KCNC3 Ellen McDonagh gene: KCNC3 was added
gene: KCNC3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: KCNC3 was set to
Phenotypes for gene: KCNC3 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 KCNA2 Ellen McDonagh gene: KCNA2 was added
gene: KCNA2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNA2 were set to 27543892
Phenotypes for gene: KCNA2 were set to Epileptic encephalopathy, early infantile, 32, 616366; Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family
Hereditary neuropathy or pain disorder v0.1 KCNA1 Ellen McDonagh gene: KCNA1 was added
gene: KCNA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: KCNA1 was set to
Phenotypes for gene: KCNA1 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 KARS Ellen McDonagh gene: KARS was added
gene: KARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: KARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KARS were set to 25476837; 23768514; 20920668
Phenotypes for gene: KARS were set to Deafness, autosomal recessive 89, 613916; Charcot-Marie-Tooth, Intermediate (Dominant); Charcot-Marie-Tooth, Intermediate (Dominant).; Charcot Marie Tooth disease, recessive intermediate, B, 613641
Hereditary neuropathy or pain disorder v0.1 JUP Ellen McDonagh gene: JUP was added
gene: JUP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: JUP was set to
Phenotypes for gene: JUP were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 JPH2 Ellen McDonagh gene: JPH2 was added
gene: JPH2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: JPH2 was set to
Phenotypes for gene: JPH2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 ITPR1 Ellen McDonagh gene: ITPR1 was added
gene: ITPR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: ITPR1 was set to
Phenotypes for gene: ITPR1 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 IARS2 Ellen McDonagh gene: IARS2 was added
gene: IARS2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS2 were set to 28328135; 30419932; 25130867; 30041933
Phenotypes for gene: IARS2 were set to Spondyloepiphyseal dysplasia, congenital cataracts, nystagmus, dysmorphic facies, sensory neuronal hearing loss, growth hormone deficiency, sensory axonal peripheral neuropathy; Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007
Hereditary neuropathy or pain disorder v0.1 HSPB3 Ellen McDonagh gene: HSPB3 was added
gene: HSPB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,Expert Review Red,South West GLH
Mode of inheritance for gene: HSPB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSPB3 were set to 27549087; 20142617
Phenotypes for gene: HSPB3 were set to ?Neuronopathy, distal hereditary motor, type IIC, 613376
Hereditary neuropathy or pain disorder v0.1 HRAS Ellen McDonagh gene: HRAS was added
gene: HRAS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: HRAS was set to
Phenotypes for gene: HRAS were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 HOXD10 Ellen McDonagh gene: HOXD10 was added
gene: HOXD10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: HOXD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HOXD10 were set to 15146389
Phenotypes for gene: HOXD10 were set to Charcot Marie Tooth disease, foot deformity of, 192950
Hereditary neuropathy or pain disorder v0.1 HMBS Ellen McDonagh gene: HMBS was added
gene: HMBS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HMBS were set to AIP, Abdominal pain, psychosis, depression, seizures, axonal predominantly motor neuropathy; Porphyria, acute intermittent, 176000
Hereditary neuropathy or pain disorder v0.1 HADHB Ellen McDonagh gene: HADHB was added
gene: HADHB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,South West GLH,London North GLH,Expert list
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015
Hereditary neuropathy or pain disorder v0.1 HADHA Ellen McDonagh gene: HADHA was added
gene: HADHA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Red,South West GLH
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Trifunctional protein deficiency, 609015
Hereditary neuropathy or pain disorder v0.1 GNB4 Ellen McDonagh gene: GNB4 was added
gene: GNB4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB4 were set to 27908631; 23434117; 28642160
Phenotypes for gene: GNB4 were set to Charcot Marie Tooth disease, dominant intermediate F, 615185
Hereditary neuropathy or pain disorder v0.1 GLE1 Ellen McDonagh gene: GLE1 was added
gene: GLE1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLE1 were set to 18204449
Phenotypes for gene: GLE1 were set to Lethal congenital contracture syndrome 1, 253310; Congenital arthrogryposis with anterior horn cell disease, 611890; Micrognathia, pulmonary hypoplasia, loss of anterior horn cells, intrauterine death
Hereditary neuropathy or pain disorder v0.1 GJC2 Ellen McDonagh gene: GJC2 was added
gene: GJC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, 608804; Infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy andperipheral neuropathyin adulthood. Leukodystrophy; Spastic paraplegia 44, autosomal recessive, 613206
Hereditary neuropathy or pain disorder v0.1 GBA2 Ellen McDonagh gene: GBA2 was added
gene: GBA2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA2 were set to 23332916
Phenotypes for gene: GBA2 were set to SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy; Spastic paraplegia 46, autosomal recessive, 614409
Hereditary neuropathy or pain disorder v0.1 GATAD1 Ellen McDonagh gene: GATAD1 was added
gene: GATAD1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: GATAD1 was set to
Phenotypes for gene: GATAD1 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 GALC Ellen McDonagh gene: GALC was added
gene: GALC was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe. Spastic paraplegia, developmental delay, optic atrophy; Krabbe disease, 245200; adult onset has spastic paraplegia and sensory-motor axonal neuropathy with slow or normal conduction velocities, MRI shows leukodystrophy
Hereditary neuropathy or pain disorder v0.1 GAA Ellen McDonagh gene: GAA was added
gene: GAA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,Expert Review Red,NHS GMS
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAA were set to 24627108
Phenotypes for gene: GAA were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 FXN Ellen McDonagh gene: FXN was added
gene: FXN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Red,South West GLH
Mode of inheritance for gene: FXN was set to
Phenotypes for gene: FXN were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 FLVCR1 Ellen McDonagh gene: FLVCR1 was added
gene: FLVCR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR1 were set to 21070897
Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, 609033; Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI
Hereditary neuropathy or pain disorder v0.1 FKTN Ellen McDonagh gene: FKTN was added
gene: FKTN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: FKTN was set to
Phenotypes for gene: FKTN were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 FGF14 Ellen McDonagh gene: FGF14 was added
gene: FGF14 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: FGF14 was set to
Phenotypes for gene: FGF14 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 FBXO38 Ellen McDonagh gene: FBXO38 was added
gene: FBXO38 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review
Mode of inheritance for gene: FBXO38 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXO38 were set to 24207122
Phenotypes for gene: FBXO38 were set to Neuronopathy, distal hereditary motor, type IID, 615575
Hereditary neuropathy or pain disorder v0.1 FAM126A Ellen McDonagh gene: FAM126A was added
gene: FAM126A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM126A were set to 16951682
Phenotypes for gene: FAM126A were set to Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV; Leukodystrophy, hypomyelinating, 5, 610532
Hereditary neuropathy or pain disorder v0.1 FAH Ellen McDonagh gene: FAH was added
gene: FAH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP; Tyrosinemia, type I, 276700
Hereditary neuropathy or pain disorder v0.1 FA2H Ellen McDonagh gene: FA2H was added
gene: FA2H was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to 22146942
Phenotypes for gene: FA2H were set to SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed; Spastic paraplegia 35, autosomal recessive, 612319
Hereditary neuropathy or pain disorder v0.1 ETFDH Ellen McDonagh gene: ETFDH was added
gene: ETFDH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680; Neonatal and late onset forms. hypoglycaemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occur. Riboflavin responsive
Hereditary neuropathy or pain disorder v0.1 ERCC8 Ellen McDonagh gene: ERCC8 was added
gene: ERCC8 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Cockayne syndrome, type A, 216400
Hereditary neuropathy or pain disorder v0.1 ERCC6 Ellen McDonagh gene: ERCC6 was added
gene: ERCC6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Cockayne syndrome, type B, 133540
Hereditary neuropathy or pain disorder v0.1 ERBB3 Ellen McDonagh gene: ERBB3 was added
gene: ERBB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERBB3 were set to 17709104
Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, 607598; Multiple joint contractures, anterior horn atrophy, death in neonatal period, distended urinary bladder
Hereditary neuropathy or pain disorder v0.1 EMD Ellen McDonagh gene: EMD was added
gene: EMD was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: EMD was set to
Phenotypes for gene: EMD were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 DTNA Ellen McDonagh gene: DTNA was added
gene: DTNA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: DTNA was set to
Phenotypes for gene: DTNA were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 DSTYK Ellen McDonagh gene: DSTYK was added
gene: DSTYK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSTYK were set to Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).; Spastic paraplegia 23, 270750
Hereditary neuropathy or pain disorder v0.1 DST Ellen McDonagh gene: DST was added
gene: DST was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DST were set to 30371979; 28468842
Phenotypes for gene: DST were set to Hereditary Sensory and Autonomic Neuropathy, Type VI; ?Neuropathy, hereditary sensory and autonomic, type VI
Hereditary neuropathy or pain disorder v0.1 DSP Ellen McDonagh gene: DSP was added
gene: DSP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: DSP was set to
Phenotypes for gene: DSP were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 DSG2 Ellen McDonagh gene: DSG2 was added
gene: DSG2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: DSG2 was set to
Phenotypes for gene: DSG2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 DSC2 Ellen McDonagh gene: DSC2 was added
gene: DSC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: DSC2 was set to
Phenotypes for gene: DSC2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 DRP2 Ellen McDonagh gene: DRP2 was added
gene: DRP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review
Mode of inheritance for gene: DRP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DRP2 were set to 26227883; 29473052
Hereditary neuropathy or pain disorder v0.1 DNAJC3 Ellen McDonagh gene: DNAJC3 was added
gene: DNAJC3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC3 were set to 25466870
Phenotypes for gene: DNAJC3 were set to Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus; Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
Hereditary neuropathy or pain disorder v0.1 DNAJB2 Ellen McDonagh gene: DNAJB2 was added
gene: DNAJB2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Red,South West GLH
Mode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB2 were set to 26752306; 25274842
Phenotypes for gene: DNAJB2 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 DMD Ellen McDonagh gene: DMD was added
gene: DMD was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: DMD was set to
Phenotypes for gene: DMD were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 DHTKD1 Ellen McDonagh gene: DHTKD1 was added
gene: DHTKD1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DHTKD1 was set to
Phenotypes for gene: DHTKD1 were set to Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750
Hereditary neuropathy or pain disorder v0.1 DHH Ellen McDonagh gene: DHH was added
gene: DHH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,UKGTN,South West GLH
Mode of inheritance for gene: DHH was set to
Hereditary neuropathy or pain disorder v0.1 DGUOK Ellen McDonagh gene: DGUOK was added
gene: DGUOK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DGUOK were set to 15883261
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Portal hypertension, noncirrhotic, 617068; Neonatal liver failure, myopathy, sensory-motor axonal neuropathy
Hereditary neuropathy or pain disorder v0.1 DES Ellen McDonagh gene: DES was added
gene: DES was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: DES was set to
Phenotypes for gene: DES were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 DEGS1 Ellen McDonagh gene: DEGS1 was added
gene: DEGS1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEGS1 were set to 30620337; 30620338
Phenotypes for gene: DEGS1 were set to Demyelinating neuropathy. Motor developmental delay, spasticity, cerebellar atrophy and microcephaly, hypomyelination on MRI, scoliosis, neurogenic bladder, enteral nutrition; Leukodystrophy, hypomyelinating, 18, 618404
Hereditary neuropathy or pain disorder v0.1 DCTN1 Ellen McDonagh gene: DCTN1 was added
gene: DCTN1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DCTN1 were set to 24627108; 27025386; 28251916
Phenotypes for gene: DCTN1 were set to Perry syndrome, 168605; {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641
Hereditary neuropathy or pain disorder v0.1 DCAF8 Ellen McDonagh gene: DCAF8 was added
gene: DCAF8 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH
Mode of inheritance for gene: DCAF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DCAF8 were set to 24500646
Phenotypes for gene: DCAF8 were set to ?Giant axonal neuropathy 2, autosomal dominant, 610100
Hereditary neuropathy or pain disorder v0.1 DARS2 Ellen McDonagh gene: DARS2 was added
gene: DARS2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS2 were set to 28334938
Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings
Hereditary neuropathy or pain disorder v0.1 CYP27A1 Ellen McDonagh gene: CYP27A1 was added
gene: CYP27A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to 22878431
Phenotypes for gene: CYP27A1 were set to SNCV described in a minority of patients; Adolescent-onset progressive ataxia, myelopathy and dementia, cataracts, low cholesterol, atherosclerosis, xanthomas, soft palate myoclonus, intractable infantile-onset diarrhoea, cerebral white matter lesions on MRI, sensory to motor axonal neuropathy; Cerebrotendinous xanthomatosis, 213700
Hereditary neuropathy or pain disorder v0.1 CTDP1 Ellen McDonagh gene: CTDP1 was added
gene: CTDP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH
Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTDP1 were set to 16194727; 24690360; 14517542
Phenotypes for gene: CTDP1 were set to Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN)
Hereditary neuropathy or pain disorder v0.1 CSRP3 Ellen McDonagh gene: CSRP3 was added
gene: CSRP3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: CSRP3 was set to
Phenotypes for gene: CSRP3 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 CRYAB Ellen McDonagh gene: CRYAB was added
gene: CRYAB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: CRYAB was set to
Phenotypes for gene: CRYAB were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 CPOX Ellen McDonagh gene: CPOX was added
gene: CPOX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CPOX were set to Coproporphyria, 121300; Harderoporphyria, 121300; Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP
Hereditary neuropathy or pain disorder v0.1 COQ8A Ellen McDonagh gene: COQ8A was added
gene: COQ8A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: COQ8A was set to
Phenotypes for gene: COQ8A were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 COA7 Ellen McDonagh gene: COA7 was added
gene: COA7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 2971817
Phenotypes for gene: COA7 were set to Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Hereditary neuropathy or pain disorder v0.1 CNTNAP1 Ellen McDonagh gene: CNTNAP1 was added
gene: CNTNAP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, 618186
Hereditary neuropathy or pain disorder v0.1 CLTCL1 Ellen McDonagh gene: CLTCL1 was added
gene: CLTCL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH
Mode of inheritance for gene: CLTCL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLTCL1 were set to 26068709
Hereditary neuropathy or pain disorder v0.1 CD59 Ellen McDonagh gene: CD59 was added
gene: CD59 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: CD59 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD59 were set to 24382084; 23149847
Phenotypes for gene: CD59 were set to Onset 1st and 2nd decade. Haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy; Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
Hereditary neuropathy or pain disorder v0.1 CCT5 Ellen McDonagh gene: CCT5 was added
gene: CCT5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCT5 were set to 16399879
Phenotypes for gene: CCT5 were set to Sensory Neuropathy with Spastic Paraplegia; Neuropathy, hereditary sensory, with spastic paraplegia, 256840
Hereditary neuropathy or pain disorder v0.1 CAV3 Ellen McDonagh gene: CAV3 was added
gene: CAV3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: CAV3 was set to
Phenotypes for gene: CAV3 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 CASQ2 Ellen McDonagh gene: CASQ2 was added
gene: CASQ2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: CASQ2 was set to
Phenotypes for gene: CASQ2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 CACNB4 Ellen McDonagh gene: CACNB4 was added
gene: CACNB4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: CACNB4 was set to
Phenotypes for gene: CACNB4 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 C19orf12 Ellen McDonagh gene: C19orf12 was added
gene: C19orf12 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf12 were set to 23857908; 20039086
Phenotypes for gene: C19orf12 were set to SPG43, Childhood onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs; Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298
Hereditary neuropathy or pain disorder v0.1 BRAF Ellen McDonagh gene: BRAF was added
gene: BRAF was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: BRAF was set to
Phenotypes for gene: BRAF were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 BCKDHB Ellen McDonagh gene: BCKDHB was added
gene: BCKDHB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDHB were set to 18855118; 11180212
Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib, 248600; Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropath; Maple Syrup Urine Disease
Hereditary neuropathy or pain disorder v0.1 BAG3 Ellen McDonagh gene: BAG3 was added
gene: BAG3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BAG3 were set to 22734908; 28754666
Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881
Hereditary neuropathy or pain disorder v0.1 B4GALNT1 Ellen McDonagh gene: B4GALNT1 was added
gene: B4GALNT1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALNT1 were set to 23746551
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy; Spastic paraplegia 26, autosomal recessive, 609195; SPG26
Hereditary neuropathy or pain disorder v0.1 ATP1A1 Ellen McDonagh gene: ATP1A1 was added
gene: ATP1A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: ATP1A1 was set to
Publications for gene: ATP1A1 were set to 29499166
Phenotypes for gene: ATP1A1 were set to Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Hereditary neuropathy or pain disorder v0.1 ARSA Ellen McDonagh gene: ARSA was added
gene: ARSA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy; Metachromatic leukodystrophy, 250100
Hereditary neuropathy or pain disorder v0.1 ARL6IP1 Ellen McDonagh gene: ARL6IP1 was added
gene: ARL6IP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6IP1 were set to 24482476
Phenotypes for gene: ARL6IP1 were set to Spastic paraplegia 61, autosomal recessive, 615685; Childhood onset spastic paraplegia with mutilating, sensory to motor axonal neuropathy
Hereditary neuropathy or pain disorder v0.1 APTX Ellen McDonagh gene: APTX was added
gene: APTX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Red,South West GLH
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APTX were set to 11176957
Phenotypes for gene: APTX were set to Hereditary Neuropathies; ATAXIA WITH OCULOMOTOR APRAXIA 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Hereditary neuropathy or pain disorder v0.1 APOA1 Ellen McDonagh gene: APOA1 was added
gene: APOA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOA1 were set to 23730806
Phenotypes for gene: APOA1 were set to Renal failure, Axonal sensory-motor neuropathy similar to TTR FAP, amyloid nephropathy
Hereditary neuropathy or pain disorder v0.1 AP1S1 Ellen McDonagh gene: AP1S1 was added
gene: AP1S1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1S1 were set to 19057675
Phenotypes for gene: AP1S1 were set to MEDNIK syndrome, 609313; Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
Hereditary neuropathy or pain disorder v0.1 ANKRD1 Ellen McDonagh gene: ANKRD1 was added
gene: ANKRD1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: ANKRD1 was set to
Phenotypes for gene: ANKRD1 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 ALDH3A2 Ellen McDonagh gene: ALDH3A2 was added
gene: ALDH3A2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: ALDH3A2 was set to
Phenotypes for gene: ALDH3A2 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 AGXT Ellen McDonagh gene: AGXT was added
gene: AGXT was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGXT were set to 25363903; 4701948
Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, 259900; Renal failure and deposition of calcium oxalate crystals in tissues including nerve and muscle. Sensory and motor axonal neuropathy (some slowing)
Hereditary neuropathy or pain disorder v0.1 AGTPBP1 Ellen McDonagh gene: AGTPBP1 was added
gene: AGTPBP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557
Phenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
Hereditary neuropathy or pain disorder v0.1 ACTN2 Ellen McDonagh gene: ACTN2 was added
gene: ACTN2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: ACTN2 was set to
Phenotypes for gene: ACTN2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 ACTC1 Ellen McDonagh gene: ACTC1 was added
gene: ACTC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: ACTC1 was set to
Phenotypes for gene: ACTC1 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 ABHD12 Ellen McDonagh gene: ABHD12 was added
gene: ABHD12 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD12 were set to 20797687; 29571850
Phenotypes for gene: ABHD12 were set to Neurodegeneration, childhood-onset, with cerebellar atrophy,612674; Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
Hereditary neuropathy or pain disorder v0.1 ABCC9 Ellen McDonagh gene: ABCC9 was added
gene: ABCC9 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: ABCC9 was set to
Phenotypes for gene: ABCC9 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 VRK1 Ellen McDonagh gene: VRK1 was added
gene: VRK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review Amber,London North GLH,Expert list
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VRK1 were set to 30847374
Phenotypes for gene: VRK1 were set to Distal hereditary motor neuropathy
Hereditary neuropathy or pain disorder v0.1 SYT2 Ellen McDonagh gene: SYT2 was added
gene: SYT2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Amber,South West GLH
Mode of inheritance for gene: SYT2 was set to
Publications for gene: SYT2 were set to 26519543; 30533528
Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic
Hereditary neuropathy or pain disorder v0.1 YARS Ellen McDonagh gene: YARS was added
gene: YARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: YARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: YARS were set to 19561293; 16429158
Phenotypes for gene: YARS were set to Charcot Marie Tooth disease, dominant intermediate C, 608323
Hereditary neuropathy or pain disorder v0.1 WNK1 Ellen McDonagh gene: WNK1 was added
gene: WNK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNK1 were set to 15060842
Phenotypes for gene: WNK1 were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type II, 201300; Pseudohypoaldosteronism, type IIC, 614492
Hereditary neuropathy or pain disorder v0.1 WARS Ellen McDonagh gene: WARS was added
gene: WARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green
Mode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WARS were set to 28369220
Phenotypes for gene: WARS were set to Neuronopathy, distal hereditary motor, type IX, 617721
Hereditary neuropathy or pain disorder v0.1 VCP Ellen McDonagh gene: VCP was added
gene: VCP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VCP were set to 26574898; 25878907; 25125609
Phenotypes for gene: VCP were set to Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1; Charcot-Marie-Tooth disease, type 2Y
Hereditary neuropathy or pain disorder v0.1 TYMP Ellen McDonagh gene: TYMP was added
gene: TYMP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Hereditary neuropathy or pain disorder v0.1 TUBB3 Ellen McDonagh gene: TUBB3 was added
gene: TUBB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green
Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TUBB3 were set to CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES; CFEOM3A; Fibrosis of extraocular muscles, congenital, 3A
Hereditary neuropathy or pain disorder v0.1 TTR Ellen McDonagh gene: TTR was added
gene: TTR was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTR were set to 31111153; 31131842; 30878017; 30120737; 31118583
Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related, 105210; FAP; Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 TRPV4 Ellen McDonagh gene: TRPV4 was added
gene: TRPV4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRPV4 were set to 20037586
Phenotypes for gene: TRPV4 were set to Hereditary motor and sensory neuropathy, type IIc, 606071
Mode of pathogenicity for gene: TRPV4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary neuropathy or pain disorder v0.1 TFG Ellen McDonagh gene: TFG was added
gene: TFG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Green,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TFG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TFG were set to Hereditary motor and sensory neuropathy, Okinawa type; Chondrosarcoma, extraskeletal myxoid, 612237; Hereditary motor and sensory neuropathy, proximal type, 604484
Hereditary neuropathy or pain disorder v0.1 SPTLC2 Ellen McDonagh gene: SPTLC2 was added
gene: SPTLC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPTLC2 were set to 20920666
Phenotypes for gene: SPTLC2 were set to Hereditary Sensory and Autonomic Neuropathy, Type IC; Neuropathy, hereditary sensory and autonomic, type IC, 613640
Mode of pathogenicity for gene: SPTLC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary neuropathy or pain disorder v0.1 SPTLC1 Ellen McDonagh gene: SPTLC1 was added
gene: SPTLC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPTLC1 were set to 20097765; 16216550
Phenotypes for gene: SPTLC1 were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IA, 162400
Hereditary neuropathy or pain disorder v0.1 SPG11 Ellen McDonagh gene: SPG11 was added
gene: SPG11 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,London North GLH,Expert Review Green,NHS GMS
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 26556829
Phenotypes for gene: SPG11 were set to Hereditary Neuropathies; axonal Charcot-Marie-Tooth disease type 2X
Hereditary neuropathy or pain disorder v0.1 SPAST Ellen McDonagh gene: SPAST was added
gene: SPAST was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Green
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPAST were set to 28572275
Phenotypes for gene: SPAST were set to Hereditary Neuropathies; Spastic paraplegia 4, autosomal dominant; Spasticity
Hereditary neuropathy or pain disorder v0.1 SMN1 Ellen McDonagh gene: SMN1 was added
gene: SMN1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy
Hereditary neuropathy or pain disorder v0.1 SLC52A3 Ellen McDonagh gene: SLC52A3 was added
gene: SLC52A3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A3 were set to 20206331
Phenotypes for gene: SLC52A3 were set to Fazio-Londe disease; dHMN; Brown-Vialetto-Van Laere syndrome 1
Hereditary neuropathy or pain disorder v0.1 SLC52A2 Ellen McDonagh gene: SLC52A2 was added
gene: SLC52A2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A2 were set to BVVL; Brown-Vialetto-Van Laere syndrome 2
Hereditary neuropathy or pain disorder v0.1 SLC12A6 Ellen McDonagh gene: SLC12A6 was added
gene: SLC12A6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A6 were set to 12368912
Phenotypes for gene: SLC12A6 were set to Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
Hereditary neuropathy or pain disorder v0.1 SIGMAR1 Ellen McDonagh gene: SIGMAR1 was added
gene: SIGMAR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green
Mode of inheritance for gene: SIGMAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIGMAR1 were set to PMID: 26088964 is a commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions. PMID: 26088963 - in reply, authors state that there is in vitro and in vivo evidence, and expression evidence, and that a case reported did not have the C9orf72 expansion; PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile; PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family.; PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls
Hereditary neuropathy or pain disorder v0.1 SH3TC2 Ellen McDonagh gene: SH3TC2 was added
gene: SH3TC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SH3TC2 were set to 19805030
Phenotypes for gene: SH3TC2 were set to Charcot Marie Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353
Hereditary neuropathy or pain disorder v0.1 SETX Ellen McDonagh gene: SETX was added
gene: SETX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SETX were set to PMID: 25025039 - a likely pathogenic variant in SETX reported in a sporadic case with CMT2 and spasticity. Found with a REEP1 variant, and the authors assume digenic pathogenicity.; PMID:25802885 - Identifiy one previously reported variant and three novel variants in 4 families. Report the variants found in CMT patients are likely nonpathogenic due to bioinformatics analysis. Report SETX c.7640T>C is a nonpathogenic rare variant
Hereditary neuropathy or pain disorder v0.1 SEPT9 Ellen McDonagh gene: SEPT9 was added
gene: SEPT9 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEPT9 were set to 16186812; 19451530
Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic; Neuralgic amyotrophy
Hereditary neuropathy or pain disorder v0.1 SCN9A Ellen McDonagh gene: SCN9A was added
gene: SCN9A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCN9A were set to 26392352
Phenotypes for gene: SCN9A were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 SCN11A Ellen McDonagh gene: SCN11A was added
gene: SCN11A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN11A were set to CONGENITAL INABILITY TO EXPERIENCE PAIN; Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552
Hereditary neuropathy or pain disorder v0.1 SBF2 Ellen McDonagh gene: SBF2 was added
gene: SBF2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SBF2 were set to 17855448; 12554688
Phenotypes for gene: SBF2 were set to Charcot Marie Tooth disease, type 4B2, 604563
Hereditary neuropathy or pain disorder v0.1 SACS Ellen McDonagh gene: SACS was added
gene: SACS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 RETREG1 Ellen McDonagh gene: RETREG1 was added
gene: RETREG1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RETREG1 were set to 30373780; 19838196
Phenotypes for gene: RETREG1 were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IIB, 613115
Hereditary neuropathy or pain disorder v0.1 REEP1 Ellen McDonagh gene: REEP1 was added
gene: REEP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green,South West GLH
Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: REEP1 were set to 19034539; 22703882
Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant 610250; ?Neuronopathy, distal hereditary motor, type VB, 614751; Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 RAB7A Ellen McDonagh gene: RAB7A was added
gene: RAB7A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAB7A were set to 26791407
Phenotypes for gene: RAB7A were set to Charcot-Marie-Tooth disease, type 2B, 600882
Hereditary neuropathy or pain disorder v0.1 PRX Ellen McDonagh gene: PRX was added
gene: PRX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRX were set to 11157804; 10848494
Phenotypes for gene: PRX were set to Dejerine Sottas disease, autosomal recessive, 145900; Charcot Marie Tooth disease, type 4F, 614895
Hereditary neuropathy or pain disorder v0.1 PRPS1 Ellen McDonagh gene: PRPS1 was added
gene: PRPS1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PRPS1 were set to 17701900; 24285972
Phenotypes for gene: PRPS1 were set to Charcot Marie Tooth disease, X linked recessive, 5, 311070
Hereditary neuropathy or pain disorder v0.1 PRNP Ellen McDonagh gene: PRNP was added
gene: PRNP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,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 24224623
Hereditary neuropathy or pain disorder v0.1 PRDM12 Ellen McDonagh gene: PRDM12 was added
gene: PRDM12 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM12 were set to hereditary sensory & autonomic neuropathy type VIII
Hereditary neuropathy or pain disorder v0.1 POLG Ellen McDonagh gene: POLG was added
gene: POLG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO); Mitochondrial DNA depletion syndrome 4A (Alpers type); Cardiomyopathy; Progressive external ophthalmoplegia, autosomal recessive 1; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Mitochondrial DNA depletion syndrome 4B (MNGIE type)
Hereditary neuropathy or pain disorder v0.1 PMP22 Ellen McDonagh gene: PMP22 was added
gene: PMP22 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing
Mode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PMP22 were set to Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800; Neuropathy, recurrent, with pressure palsies, 162500; Charcot Marie Tooth disease, type 1A, 118220; Neuropathy, inflammatory demyelinating, 139393
Hereditary neuropathy or pain disorder v0.1 PLEKHG5 Ellen McDonagh gene: PLEKHG5 was added
gene: PLEKHG5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PLEKHG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHG5 were set to 23844677; 17564964
Phenotypes for gene: PLEKHG5 were set to Spinal muscular atrophy, distal, autosomal recessive, 4, 611067; Charcot Marie Tooth disease, recessive intermediate C, 615376
Hereditary neuropathy or pain disorder v0.1 PHYH Ellen McDonagh gene: PHYH was added
gene: PHYH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Green
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 PEX7 Ellen McDonagh gene: PEX7 was added
gene: PEX7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Green
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Hereditary Neuropathies; Refsum disease
Hereditary neuropathy or pain disorder v0.1 PDHA1 Ellen McDonagh gene: PDHA1 was added
gene: PDHA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary neuropathy or pain disorder v0.1 NTRK1 Ellen McDonagh gene: NTRK1 was added
gene: NTRK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTRK1 were set to 28940190
Phenotypes for gene: NTRK1 were set to Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis
Hereditary neuropathy or pain disorder v0.1 NGF Ellen McDonagh gene: NGF was added
gene: NGF was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NGF were set to 14976160; 1317267
Phenotypes for gene: NGF were set to Neuropathy, hereditary sensory and autonomic, type V, 608654; Hereditary Sensory and Autonomic Neuropathy, Type V
Hereditary neuropathy or pain disorder v0.1 NEFL Ellen McDonagh gene: NEFL was added
gene: NEFL was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NEFL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NEFL were set to 10841809; 23618875
Phenotypes for gene: NEFL were set to Charcot-Marie-Tooth disease, dominant intermediate G, 617882; Charcot Marie Tooth disease, type 1F, 607734; Charcot Marie Tooth disease, type 2E, 607684
Hereditary neuropathy or pain disorder v0.1 NDRG1 Ellen McDonagh gene: NDRG1 was added
gene: NDRG1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDRG1 were set to 10831399; 28776325
Phenotypes for gene: NDRG1 were set to Charcot Marie Tooth disease, type 4D, 601455
Hereditary neuropathy or pain disorder v0.1 MTMR2 Ellen McDonagh gene: MTMR2 was added
gene: MTMR2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTMR2 were set to 10802647; 28509084
Phenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382
Hereditary neuropathy or pain disorder v0.1 MT-ATP6 Ellen McDonagh gene: MT-ATP6 was added
gene: MT-ATP6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Hereditary neuropathy or pain disorder v0.1 MPZ Ellen McDonagh gene: MPZ was added
gene: MPZ was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing
Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MPZ were set to Neuropathy, congenital hypomyelinating, 605253; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, dominant intermediate D, 607791; Roussy Levy syndrome, 180800; Charcot Marie Tooth disease, type 2J, 607736; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677
Hereditary neuropathy or pain disorder v0.1 MPV17 Ellen McDonagh gene: MPV17 was added
gene: MPV17 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Hereditary neuropathy or pain disorder v0.1 MORC2 Ellen McDonagh gene: MORC2 was added
gene: MORC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Literature,South West GLH
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MORC2 were set to Charcot-Marie-Tooth disease, axonal, type 2Z
Mode of pathogenicity for gene: MORC2 was set to FALSE
Hereditary neuropathy or pain disorder v0.1 MME Ellen McDonagh gene: MME was added
gene: MME was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Other,Expert Review Green
Mode of inheritance for gene: MME was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MME were set to 26991897; 27588448
Phenotypes for gene: MME were set to Charcot-Marie-Tooth disease, axonal, type 2T, 617017
Hereditary neuropathy or pain disorder v0.1 MFN2 Ellen McDonagh gene: MFN2 was added
gene: MFN2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing
Mode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MFN2 were set to Charcot Marie Tooth disease, type 2A2, 609260; Charcot-Marie-Tooth, Type 2 (Dominant); Hereditary motor and sensory neuropathy VI, 601152; MFN2 axonal neuropathy; Hereditary Motor and Sensory Neuropathy (Recessive)
Hereditary neuropathy or pain disorder v0.1 LRSAM1 Ellen McDonagh gene: LRSAM1 was added
gene: LRSAM1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: LRSAM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LRSAM1 were set to 22781092; 28335037
Phenotypes for gene: LRSAM1 were set to Charcot Marie Toothe disease, axonal, type 2P, 614436
Hereditary neuropathy or pain disorder v0.1 LMNA Ellen McDonagh gene: LMNA was added
gene: LMNA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMNA were set to 11799477
Phenotypes for gene: LMNA were set to Emery Dreifuss muscular dystrophy 3, AR, 181350; Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112; Cardiomyopathy, dilated, 1A, 115200; Lipodystrophy, familial partial, 2, 151660; Emery Dreifuss muscular dystrophy 2, AD, 181350; Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670; Charcot Marie Tooth disease, type 2B1, 605588
Hereditary neuropathy or pain disorder v0.1 LITAF Ellen McDonagh gene: LITAF was added
gene: LITAF was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LITAF were set to 28211240
Phenotypes for gene: LITAF were set to Charcot Marie Tooth disease, type 1C, 601098
Hereditary neuropathy or pain disorder v0.1 KIF5A Ellen McDonagh gene: KIF5A was added
gene: KIF5A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,London North GLH,Expert Review Green,NHS GMS
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF5A were set to Hereditary Neuropathies; Spastic paraplegia 10, autosomal dominant
Hereditary neuropathy or pain disorder v0.1 KIF1A Ellen McDonagh gene: KIF1A was added
gene: KIF1A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1A were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213
Hereditary neuropathy or pain disorder v0.1 INF2 Ellen McDonagh gene: INF2 was added
gene: INF2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Green,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: INF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: INF2 were set to Charcot Marie Tooth disease, dominant intermediate E, 614455
Hereditary neuropathy or pain disorder v0.1 IGHMBP2 Ellen McDonagh gene: IGHMBP2 was added
gene: IGHMBP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGHMBP2 were set to 26392352
Phenotypes for gene: IGHMBP2 were set to Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320
Hereditary neuropathy or pain disorder v0.1 HSPB8 Ellen McDonagh gene: HSPB8 was added
gene: HSPB8 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSPB8 were set to 28780615; 23389032
Phenotypes for gene: HSPB8 were set to Neuropathy, distal hereditary motor, type IIA, 158590; Charcot Marie Tooth disease, axonal, type 2L, 608673
Hereditary neuropathy or pain disorder v0.1 HSPB1 Ellen McDonagh gene: HSPB1 was added
gene: HSPB1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: HSPB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSPB1 were set to 15122254; 28379183
Phenotypes for gene: HSPB1 were set to Charcot Marie Tooth disease, axonal, type 2F, 606595; Neuropathy, distal hereditary motor, type IIB, 608634
Hereditary neuropathy or pain disorder v0.1 HK1 Ellen McDonagh gene: HK1 was added
gene: HK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HK1 were set to Neuropathy, hereditary motor and sensory, Russe type, 605285; Hemolytic anemia due to hexokinase deficiency, 235700
Hereditary neuropathy or pain disorder v0.1 HINT1 Ellen McDonagh gene: HINT1 was added
gene: HINT1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list
Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v0.1 HARS Ellen McDonagh gene: HARS was added
gene: HARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list
Mode of inheritance for gene: HARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v0.1 GLA Ellen McDonagh gene: GLA was added
gene: GLA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,London North GLH,Expert Review Green,NHS GMS
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 Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 GJB1 Ellen McDonagh gene: GJB1 was added
gene: GJB1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GJB1 were set to 8266101
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth, X-linked; Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800
Hereditary neuropathy or pain disorder v0.1 GDAP1 Ellen McDonagh gene: GDAP1 was added
gene: GDAP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GDAP1 were set to 2937239; 11743579
Phenotypes for gene: GDAP1 were set to Charcot Marie Tooth disease, recessive intermediate, A, 608340; Charcot-Marie-Tooth with Vocal Cord Paresis (recessive); Charcot Marie Tooth disease, type 4A, 214400; Charcot Marie Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth, Intermediate (Dominant)
Hereditary neuropathy or pain disorder v0.1 GARS Ellen McDonagh gene: GARS was added
gene: GARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GARS were set to 29648643
Phenotypes for gene: GARS were set to Neuropathy, distal hereditary motor, type V, 600794; Charcot Marie Tooth disease, type 2D, 601472
Hereditary neuropathy or pain disorder v0.1 GAN Ellen McDonagh gene: GAN was added
gene: GAN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAN were set to 1106248
Phenotypes for gene: GAN were set to Giant axonal neuropathy-1
Hereditary neuropathy or pain disorder v0.1 FIG4 Ellen McDonagh gene: FIG4 was added
gene: FIG4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIG4 were set to 17572665
Phenotypes for gene: FIG4 were set to Charcot Marie Tooth disease, type 4J, 611228; Amyotrophic lateral sclerosis 11, 612577; Yunis Varon syndrome, 216340
Hereditary neuropathy or pain disorder v0.1 FGD4 Ellen McDonagh gene: FGD4 was added
gene: FGD4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGD4 were set to 15744041; 17564959
Phenotypes for gene: FGD4 were set to Charcot Marie Tooth disease, type 4H, 609311; Charcot-Marie-Tooth, Type 4
Hereditary neuropathy or pain disorder v0.1 FBLN5 Ellen McDonagh gene: FBLN5 was added
gene: FBLN5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green
Mode of inheritance for gene: FBLN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v0.1 ELP1 Ellen McDonagh gene: ELP1 was added
gene: ELP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELP1 were set to 26392352
Phenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900
Hereditary neuropathy or pain disorder v0.1 EGR2 Ellen McDonagh gene: EGR2 was added
gene: EGR2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: EGR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EGR2 were set to 9537424
Phenotypes for gene: EGR2 were set to Charcot-Marie-Tooth, Type 1; Charcot Marie Tooth disease, type 1D, 607678
Hereditary neuropathy or pain disorder v0.1 DYNC1H1 Ellen McDonagh gene: DYNC1H1 was added
gene: DYNC1H1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DYNC1H1 were set to 21820100; 26392352
Phenotypes for gene: DYNC1H1 were set to Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600; Charcot Marie Tooth disease, axonal, type 20, 614228
Hereditary neuropathy or pain disorder v0.1 DNMT1 Ellen McDonagh gene: DNMT1 was added
gene: DNMT1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNMT1 were set to 21532572
Phenotypes for gene: DNMT1 were set to Dementia, Deafness, and Sensory Neuropathy; Neuropathy, hereditary sensory, type IE, 614116
Hereditary neuropathy or pain disorder v0.1 DNM2 Ellen McDonagh gene: DNM2 was added
gene: DNM2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM2 were set to 15731758
Phenotypes for gene: DNM2 were set to Charcot Marie Tooth disease, dominant intermediate B, 606482; Lethal congenital contracture syndrome 5, 615368; Charcot Marie Tooth disease, axonal, type 2M, 606482; Myopathy, centronuclear, 160150; Charcot-Marie-Tooth, Intermediate
Hereditary neuropathy or pain disorder v0.1 COX6A1 Ellen McDonagh gene: COX6A1 was added
gene: COX6A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX6A1 were set to 26302975; 25152455
Phenotypes for gene: COX6A1 were set to Charcot Marie Tooth disease, recessive intermediate D, 616039
Hereditary neuropathy or pain disorder v0.1 CHCHD10 Ellen McDonagh gene: CHCHD10 was added
gene: CHCHD10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Green,Expert Review
Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHCHD10 were set to 25428574
Phenotypes for gene: CHCHD10 were set to Spinal muscular atrophy, Jokela type: 615048
Hereditary neuropathy or pain disorder v0.1 C12orf65 Ellen McDonagh gene: C12orf65 was added
gene: C12orf65 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Green,South West GLH
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf65 were set to 24198383; 28091420
Hereditary neuropathy or pain disorder v0.1 BSCL2 Ellen McDonagh gene: BSCL2 was added
gene: BSCL2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BSCL2 were set to 26392352
Phenotypes for gene: BSCL2 were set to Lipodystrophy, congenital generalized, type 2 269700; Neuropathy, distal hereditary motor, type VA 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome 270685
Hereditary neuropathy or pain disorder v0.1 BICD2 Ellen McDonagh gene: BICD2 was added
gene: BICD2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Green,South West GLH
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BICD2 were set to 23664116
Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290
Hereditary neuropathy or pain disorder v0.1 ATP7A Ellen McDonagh gene: ATP7A was added
gene: ATP7A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP7A were set to 20170900
Phenotypes for gene: ATP7A were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 ATM Ellen McDonagh gene: ATM was added
gene: ATM was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Green,South West GLH
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Hereditary Neuropathies; Ataxia-telangiectasia
Hereditary neuropathy or pain disorder v0.1 ATL3 Ellen McDonagh gene: ATL3 was added
gene: ATL3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Green,Expert Review
Mode of inheritance for gene: ATL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATL3 were set to 24459106; 24736309
Hereditary neuropathy or pain disorder v0.1 ATL1 Ellen McDonagh gene: ATL1 was added
gene: ATL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATL1 were set to 21194679
Phenotypes for gene: ATL1 were set to Neuropathy, hereditary sensory, type ID, 613708
Hereditary neuropathy or pain disorder v0.1 ARHGEF10 Ellen McDonagh gene: ARHGEF10 was added
gene: ARHGEF10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: ARHGEF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGEF10 were set to 14508709
Phenotypes for gene: ARHGEF10 were set to ?Slowed nerve conduction velocity, AD, 608236
Hereditary neuropathy or pain disorder v0.1 AIFM1 Ellen McDonagh gene: AIFM1 was added
gene: AIFM1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Green,Expert Review
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AIFM1 were set to 3856385
Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6; Cowchock syndrome
Hereditary neuropathy or pain disorder v0.1 ABCA1 Ellen McDonagh gene: ABCA1 was added
gene: ABCA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green
Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCA1 were set to 29582519
Phenotypes for gene: ABCA1 were set to pain, paresthesias, anaesthesia; Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly; Tangier disease, 205400
Hereditary neuropathy or pain disorder v0.1 AARS Ellen McDonagh gene: AARS was added
gene: AARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AARS were set to 20045102; 26032230, 26392352
Phenotypes for gene: AARS were set to Charcot Marie Tooth disease, axonal, type 2N, 613287; Charcot-Marie-Tooth, Type 2
Hereditary neuropathy or pain disorder v0.0 Ellen McDonagh Added Panel Hereditary neuropathy NOT PMP22 copy number
Hereditary neuropathy v1.347 ABCA1 Louise Daugherty Classified gene: ABCA1 as Red List (low evidence)
Hereditary neuropathy v1.347 ABCA1 Louise Daugherty Added comment: Comment on list classification: Returned back to Red review, based on the decsiosn to create a separate panel for GMS
Hereditary neuropathy v1.347 ABCA1 Louise Daugherty Gene: abca1 has been classified as Red List (Low Evidence).
Hereditary neuropathy v1.346 ABCA1 Louise Daugherty edited their review of gene: ABCA1: Changed rating: AMBER
Hereditary neuropathy v1.346 AGXT Louise Daugherty Classified gene: AGXT as Red List (low evidence)
Hereditary neuropathy v1.346 AGXT Louise Daugherty Gene: agxt has been classified as Red List (Low Evidence).
Hereditary neuropathy v1.345 AGXT Louise Daugherty Deleted their comment
Hereditary neuropathy v1.345 AP1S1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.345 AP1S1 Louise Daugherty Classified gene: AP1S1 as Red List (low evidence)
Hereditary neuropathy v1.345 AP1S1 Louise Daugherty Gene: ap1s1 has been classified as Red List (Low Evidence).
Hereditary neuropathy v1.344 AP1S1 Louise Daugherty edited their review of gene: AP1S1: Changed rating: RED
Hereditary neuropathy v1.344 APOA1 Louise Daugherty Classified gene: APOA1 as Red List (low evidence)
Hereditary neuropathy v1.344 APOA1 Louise Daugherty Gene: apoa1 has been classified as Red List (Low Evidence).
Hereditary neuropathy v1.343 APOA1 Louise Daugherty edited their review of gene: APOA1: Changed rating: RED
Hereditary neuropathy v1.343 APOA1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.343 AGXT Louise Daugherty Classified gene: AGXT as Green List (high evidence)
Hereditary neuropathy v1.343 AGXT Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green. After discussion within curation team a decision was made to create a new panel specifically for genes that are for isolated neuropathy, and this panel will cover the broader phenotype
Hereditary neuropathy v1.343 AGXT Louise Daugherty Gene: agxt has been classified as Green List (High Evidence).
Hereditary neuropathy v1.342 AP1S1 Louise Daugherty Classified gene: AP1S1 as Green List (high evidence)
Hereditary neuropathy v1.342 AP1S1 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green. After discussion within curation team a decision was made to create a new panel specifically for genes that are for isolated neuropathy, and this panel will cover the broader phenotype
Hereditary neuropathy v1.342 AP1S1 Louise Daugherty Gene: ap1s1 has been classified as Green List (High Evidence).
Hereditary neuropathy v1.341 AP1S1 Louise Daugherty edited their review of gene: AP1S1: Changed rating: GREEN
Hereditary neuropathy v1.341 APOA1 Louise Daugherty Classified gene: APOA1 as Green List (high evidence)
Hereditary neuropathy v1.341 APOA1 Louise Daugherty Gene: apoa1 has been classified as Green List (High Evidence).
Hereditary neuropathy v1.340 APOA1 Louise Daugherty commented on gene: APOA1: Changed rating from Red to Green. After discussion within curation team a decision was made to create a new panel specifically for genes that are for isolated neuropathy, and this panel will cover the broader phenotype
Hereditary neuropathy v1.340 APOA1 Louise Daugherty edited their review of gene: APOA1: Changed rating: GREEN
Hereditary neuropathy v1.340 APTX Louise Daugherty Classified gene: APTX as Red List (low evidence)
Hereditary neuropathy v1.340 APTX Louise Daugherty Added comment: Comment on list classification: rating changed due to GMS recommendation
Hereditary neuropathy v1.340 APTX Louise Daugherty Gene: aptx has been classified as Red List (Low Evidence).
Hereditary neuropathy v1.339 APTX Louise Daugherty changed review comment from: Changed from Green to Red: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy. Extension of panel scope - ataxia with neuropathy. Broader phenotype: Ataxia with oculomotor apraxia; to: Changed from Green to Red: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy. Extension of panel scope - ataxia with neuropathy. Broader phenotype: Ataxia with oculomotor apraxia.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.
Hereditary neuropathy v1.339 APTX Louise Daugherty edited their review of gene: APTX: Added comment: Changed from Green to Red: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy. Extension of panel scope - ataxia with neuropathy. Broader phenotype: Ataxia with oculomotor apraxia; Changed rating: RED
Hereditary neuropathy v1.339 APOA1 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).. Extension of panel scope - minor feature. Amyloidosis - most cases visceral amyloidosis but 1 family with neurological phenotype: https://www.omim.org/entry/107680#0010 - rate Red.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).. Extension of panel scope - minor feature. Amyloidosis - most cases visceral amyloidosis but 1 family with neurological phenotype- rate Red.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.
Hereditary neuropathy v1.339 APOA1 Louise Daugherty edited their review of gene: APOA1: Added comment: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).. Extension of panel scope - minor feature. Amyloidosis - most cases visceral amyloidosis but 1 family with neurological phenotype: https://www.omim.org/entry/107680#0010 - rate Red.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; Changed rating: RED
Hereditary neuropathy v1.339 AP1S1 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma - OMIM 4 families from Quebec with same splice site mutation - rated Red; to: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma - OMIM 4 families from Quebec with same splice site mutation - rated Red
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.
Hereditary neuropathy v1.339 AGXT Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Gene well established to cause PH1 Primary Hyperoxaluria (green). 2 reports of neuropathy - enough cases?- rated Red; to: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Gene well established to cause PH1 Primary Hyperoxaluria (green). 2 reports of neuropathy - enough cases?- rated Red
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.
Hereditary neuropathy v1.339 AGTPBP1 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).Extension of panel scope - syndrome with non-neurological features / Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy - complex phenotype - overlap with ID - rated Red; to: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).Extension of panel scope - syndrome with non-neurological features / Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy - complex phenotype - overlap with ID - rated Red.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.
Hereditary neuropathy v1.339 ABHD12 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia - rated Red; to: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia - rated Red.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.
Hereditary neuropathy v1.339 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green; to: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.
Hereditary neuropathy v1.339 AP1S1 Louise Daugherty edited their review of gene: AP1S1: Added comment: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma - OMIM 4 families from Quebec with same splice site mutation - rated Red; Changed rating: RED
Hereditary neuropathy v1.339 AGTPBP1 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).Extension of panel scope - syndrome with non-neurological features / Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy - complex phenotype - overlap with ID; to: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).Extension of panel scope - syndrome with non-neurological features / Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy - complex phenotype - overlap with ID - rated Red
Hereditary neuropathy v1.339 AGXT Louise Daugherty edited their review of gene: AGXT: Added comment: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Gene well established to cause PH1 Primary Hyperoxaluria (green). 2 reports of neuropathy - enough cases?- rated Red; Changed rating: RED
Hereditary neuropathy v1.339 AGTPBP1 Louise Daugherty edited their review of gene: AGTPBP1: Added comment: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).Extension of panel scope - syndrome with non-neurological features / Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy - complex phenotype - overlap with ID; Changed rating: RED
Hereditary neuropathy v1.339 ABHD12 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia; to: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia - rated Red
Hereditary neuropathy v1.339 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green : Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.; to: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green
Hereditary neuropathy v1.339 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.; to: Comment on list classification: Changed from Red to Green : Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
Rare multisystem ciliopathy disorders v1.122 Rebecca Foulger Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Likely inborn error of metabolism v1.423 TMEM199 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM
Likely inborn error of metabolism v1.423 TMEM199 Ellen McDonagh Mode of inheritance for gene: TMEM199 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v1.422 UPB1 Ellen McDonagh changed review comment from: Additional comments were provided by Dr Clare Beesley and colleagues (Great Ormond Street Hospital for Children NHS Foundation Trust) as part of the GMS Metabolic Specialist disease test group: 16 mutations reported in HGMD & several families have been reported in the literature. Heterologous expression of A85E mutant enzyme in E. coli yielded no residual activity (Van Kuilenburg et al., 2004, PMID: 15385443].; to: Additional comments were provided by Dr Clare Beesley and colleagues (Great Ormond Street Hospital for Children NHS Foundation Trust) as part of the GMS Metabolic Specialist disease test group: 16 mutations reported in HGMD & several families have been reported in the literature. Heterologous expression of A85E mutant enzyme in E. coli yielded no residual activity (Van Kuilenburg et al., 2004, PMID: 15385443).
Likely inborn error of metabolism v1.422 UPB1 Ellen McDonagh commented on gene: UPB1: Additional comments were provided by Dr Clare Beesley and colleagues (Great Ormond Street Hospital for Children NHS Foundation Trust) as part of the GMS Metabolic Specialist disease test group: 16 mutations reported in HGMD & several families have been reported in the literature. Heterologous expression of A85E mutant enzyme in E. coli yielded no residual activity (Van Kuilenburg et al., 2004, PMID: 15385443].
Likely inborn error of metabolism v1.422 ALG2 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM.
Likely inborn error of metabolism v1.422 ALG2 Ellen McDonagh Mode of inheritance for gene: ALG2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v1.422 TMEM199 Ellen McDonagh Classified gene: TMEM199 as Green List (high evidence)
Likely inborn error of metabolism v1.422 TMEM199 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to feedback from the GMS Metabolic Specialist disease test group: 4 patients from 3 unrelated families reported in the literature. All patients had a type 2 pattern on serum transferrin isoelectric focusing (IEF), indicating abnormal N-glycosylation, as well as abnormal IEF of ApoC-III, indicating abnormal O-glycosylation (PMID:26833330).
Likely inborn error of metabolism v1.422 TMEM199 Ellen McDonagh Gene: tmem199 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.421 ALG2 Ellen McDonagh Classified gene: ALG2 as Amber List (moderate evidence)
Likely inborn error of metabolism v1.421 ALG2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to feedback from the GMS Metabolic Specialist disease test group. Information provided: 1 patient described with functional studies carried out: Expression of wildtype but not of mutant ALG2 cDNA restored the mannosyltransferase activity and the biosynthesis of dolichol-linked oligosaccharides both in patient fibroblasts and in yeast cells with an ALG2 mutation (PMID: 12684507).
Likely inborn error of metabolism v1.421 ALG2 Ellen McDonagh Gene: alg2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v1.420 BCAT2 Ellen McDonagh Classified gene: BCAT2 as Green List (high evidence)
Likely inborn error of metabolism v1.420 BCAT2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to expert review from representation of the GMS Metabolic disease specialist test group; multiple cases reported and this is a treatable.
Likely inborn error of metabolism v1.420 BCAT2 Ellen McDonagh Gene: bcat2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.419 BCAT2 Ellen McDonagh commented on gene: BCAT2
Likely inborn error of metabolism v1.419 BCAT2 Ellen McDonagh Mode of inheritance for gene: BCAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v1.418 BCAT2 Ellen McDonagh Tag treatable tag was added to gene: BCAT2.
Likely inborn error of metabolism v1.418 BCAT2 Ellen McDonagh Publications for gene: BCAT2 were set to 27604308
Likely inborn error of metabolism v1.417 UPB1 Ellen McDonagh Classified gene: UPB1 as Green List (high evidence)
Likely inborn error of metabolism v1.417 UPB1 Ellen McDonagh Added comment: Comment on list classification: Based on new review by metabolic disease specialist on behalf of the GMS metabolic specialist tets group, and additional publications, this gene has been promoted from Red to Green.
Likely inborn error of metabolism v1.417 UPB1 Ellen McDonagh Gene: upb1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.416 UPB1 Ellen McDonagh Publications for gene: UPB1 were set to 27604308; 24526388; 25638458; 22525402
Likely inborn error of metabolism v1.415 UPB1 Ellen McDonagh Publications for gene: UPB1 were set to 27604308
Likely inborn error of metabolism v1.414 GLS Ellen McDonagh edited their review of gene: GLS: Changed rating: AMBER
Likely inborn error of metabolism v1.414 GLS Ellen McDonagh changed review comment from: Comment on phenotypes: This gene now appears in OMIm with a disease due to new publications.; to: Comment on phenotypes: This gene now appears in OMIM with a disease due to new publications.
Likely inborn error of metabolism v1.414 GLS Ellen McDonagh Added comment: Comment on phenotypes: This gene now appears in OMIm with a disease due to new publications.
Likely inborn error of metabolism v1.414 GLS Ellen McDonagh Phenotypes for gene: GLS were changed from Glucosidase 1 deficiency (Disorders of protein N-glycosylation) to Glucosidase 1 deficiency (Disorders of protein N-glycosylation); Epileptic encephalopathy, early infantile, 71 618328; Global developmental delay, progressive ataxia, and elevated glutamine 618412
Likely inborn error of metabolism v1.413 GLS Ellen McDonagh Classified gene: GLS as Green List (high evidence)
Likely inborn error of metabolism v1.413 GLS Ellen McDonagh Added comment: Comment on list classification: Due to expert review, evidence of 2 unrelated families for loss-of-function variants and further evidence for the role of this gene with an STR reported, this gene has been promoted from Red to Green.
Likely inborn error of metabolism v1.413 GLS Ellen McDonagh Gene: gls has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.412 GLS Ellen McDonagh Mode of inheritance for gene: GLS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v1.411 GLS Ellen McDonagh Deleted their comment
Likely inborn error of metabolism v1.411 GLS Ellen McDonagh Added comment: Comment on publications: PMID: 30575854 - 2 families reported with 4 infants who had homozyous/compound heterozygous loss-of-function variants in this gene resulting in early neonatal epileptic encephalopathy with glutaminase deficiency and a lethal outcome.
Likely inborn error of metabolism v1.411 GLS Ellen McDonagh Publications for gene: GLS were set to 27604308; 30575854; 29468182
Likely inborn error of metabolism v1.411 GLS Ellen McDonagh Added comment: Comment on publications: PMID: 30575854 - 2 families reported with 4 infants who had homozyous/compound heterozygous loss-of-function variants in this gene resulting in early neonatal epileptic encephalopathy with glutaminase deficiency and a lethal outcome.
Likely inborn error of metabolism v1.411 GLS Ellen McDonagh Publications for gene: GLS were set to 27604308; 30575854; 29468182
Likely inborn error of metabolism v1.410 GLS Ellen McDonagh Added comment: Comment on publications: PMID: 30970188 - short tandem repeat (STR) reported in this gene to cause an inborn error of metabolism.
Likely inborn error of metabolism v1.410 GLS Ellen McDonagh Publications for gene: GLS were set to 27604308; 30575854; 29468182
Likely inborn error of metabolism v1.409 GLS Ellen McDonagh Publications for gene: GLS were set to 27604308
Congenital myopathy v1.223 FHL1 Louise Daugherty Source NHS GMS was added to FHL1.
Congenital myopathy v1.222 HTRA2 Louise Daugherty Source NHS GMS was added to HTRA2.
Publications for gene HTRA2 were changed from 27208207; 27696117 to 27208207; 27696117
Congenital myopathy v1.221 LGI4 Louise Daugherty Source NHS GMS was added to LGI4.
Phenotypes for gene: LGI4 were changed from Arthrogryposis Multiplex Congenita; Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468; AMCNMY to Arthrogryposis Multiplex Congenita; Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468; AMCNMY
Congenital myopathy v1.220 PAX7 Louise Daugherty Source NHS GMS was added to PAX7.
Congenital myopathy v1.219 MYMK Louise Daugherty Source NHS GMS was added to MYMK.
Congenital myopathy v1.218 LMNA Louise Daugherty Source UCL was removed from LMNA.
Source NHS GMS was added to LMNA.
Phenotypes for gene: LMNA were changed from Congenital fiber type disproportion myopathy to Congenital fiber type disproportion myopathy
Hereditary ataxia and cerebellar anomalies - childhood onset v3.435 Ellen McDonagh Changed child panels to: Congenital disorders of glycosylation; Ataxia and cerebellar anomalies - narrow panel; Neurological ciliopathies
Hereditary neuropathy v1.339 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green. From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.; to: Comment on list classification: Changed from Red to Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
Hereditary neuropathy v1.339 ABHD12 Louise Daugherty changed review comment from: Remains Red. From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia; to: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
Hereditary neuropathy v1.339 ABHD12 Louise Daugherty edited their review of gene: ABHD12: Added comment: Remains Red. From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia; Changed rating: RED
Hereditary neuropathy v1.339 ABCA1 Louise Daugherty edited their review of gene: ABCA1: Changed rating: GREEN
Hereditary neuropathy v1.339 ABCA1 Louise Daugherty Classified gene: ABCA1 as Green List (high evidence)
Hereditary neuropathy v1.339 ABCA1 Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
Hereditary neuropathy v1.339 ABCA1 Louise Daugherty Gene: abca1 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v1.0 Eleanor Williams promoted panel to version 1.0
Unexplained young onset end-stage renal disease v0.163 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Nephrocalcinosis or nephrolithiasis v2.0 Eleanor Williams promoted panel to version 2.0
Nephrocalcinosis or nephrolithiasis v1.52 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Congenital muscular dystrophy v1.77 SYNE1 Louise Daugherty Source was removed from SYNE1.
Source NHS GMS was added to SYNE1.
Congenital muscular dystrophy v1.76 MYMK Louise Daugherty Source NHS GMS was added to MYMK.
Congenital muscular dystrophy v1.75 LMNA Louise Daugherty Source was removed from LMNA.
Source NHS GMS was added to LMNA.
Proteinuric renal disease v2.0 Eleanor Williams promoted panel to version 2.0
Congenital muscular dystrophy v1.74 DMD Louise Daugherty Source was removed from DMD.
Source NHS GMS was added to DMD.
Proteinuric renal disease v1.227 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Renal tubulopathies v2.0 Eleanor Williams promoted panel to version 2.0
Renal tubulopathies v1.196 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Congenital myopathy v1.217 RYR3 Louise Daugherty Classified gene: RYR3 as Amber List (moderate evidence)
Congenital myopathy v1.217 RYR3 Louise Daugherty Added comment: Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off.
Congenital myopathy v1.217 RYR3 Louise Daugherty Gene: ryr3 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.216 RYR3 Louise Daugherty gene: RYR3 was added
gene: RYR3 was added to Congenital myopathy. Sources: Expert Review,NHS GMS
Mode of inheritance for gene: RYR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RYR3 were set to 29498452
Phenotypes for gene: RYR3 were set to childhood-onset nemaline myopathy
Review for gene: RYR3 was set to AMBER
Added comment: gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off. Recessive missense variants were identified in a patient with childhood-onset nemaline myopathy. Nilipour Y, Nafissi S, Tjust AE, et al. : Ryanodine receptor type 3 ( RYR3) as a novel gene associated with a myopathy with nemaline bodies. Eur J Neurol. 2018;25(6):841–7.
Sources: Expert Review, NHS GMS
Congenital muscular dystrophy v1.73 FHL1 Louise Daugherty Source NHS GMS was added to FHL1.
Congenital myopathy v1.215 PPA2 Louise Daugherty Source NHS GMS was added to PPA2.
Congenital myopathy v1.214 TRDN Louise Daugherty Source NHS GMS was added to TRDN.
Congenital myopathy v1.213 FLNC Louise Daugherty Source Expert Review was added to FLNC.
Source NHS GMS was added to FLNC.
Congenital myopathy v1.212 PPA2 Louise Daugherty Classified gene: PPA2 as Amber List (moderate evidence)
Congenital myopathy v1.212 PPA2 Louise Daugherty Added comment: Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off.
Congenital myopathy v1.212 PPA2 Louise Daugherty Gene: ppa2 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.211 PPA2 Louise Daugherty gene: PPA2 was added
gene: PPA2 was added to Congenital myopathy. Sources: Expert Review
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPA2 were set to Sudden cardiac failure, infantile, 617222
Review for gene: PPA2 was set to AMBER
Added comment: gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off. Recessive variants are associated with sudden cardiac death in infants and young adults. Skeletal muscle from one mildly myopathic infant displayed nemaline bodies Guimier A, Gordon CT, Godard F, et al. : Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. Am J Hum Genet. 2016;99(3):666–73. and
Kennedy H, Haack TB, Hartill V, et al. : Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. Am J Hum Genet. 2016;99(3):674–82.
Sources: Expert Review
Congenital myopathy v1.210 TRDN Louise Daugherty Classified gene: TRDN as Amber List (moderate evidence)
Congenital myopathy v1.210 TRDN Louise Daugherty Added comment: Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off.
Congenital myopathy v1.210 TRDN Louise Daugherty Gene: trdn has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.209 TRDN Louise Daugherty gene: TRDN was added
gene: TRDN was added to Congenital myopathy. Sources: Expert list
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRDN were set to 25922419; 28202702
Phenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441
Review for gene: TRDN was set to AMBER
Added comment: gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off. Recessive frameshift mutations, leading to loss of TRDN, were found to cause a skeletal myopathy in a subset of patients with triadin knockout syndrome.
Altmann HM, Tester DJ, Will ML, et al. : Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome. Circulation. 2015;131(23):2051–60. 10.1161/CIRCULATIONAHA.115.015397
Engel AG, Redhage KR, Tester DJ, et al. : Congenital myopathy associated with the triadin knockout syndrome. Neurology. 2017;88(12):1153–6.
Sources: Expert list
Congenital myopathy v1.208 FLNC Louise Daugherty Classified gene: FLNC as Amber List (moderate evidence)
Congenital myopathy v1.208 FLNC Louise Daugherty Added comment: Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off. Four unrelated patients with cardiomyopathy, arthrogryposis, and a limb-girdle pattern of skeletal muscle weakness at birth or during the first year of life harboured de novo missense variants; three of these patients had p.Ala1186Val.
Kiselev A, Vaz R, Knyazeva A, et al. : De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. Hum Mutat. 2018;39(9):1161–72. 10.1002/humu.23559
Congenital myopathy v1.208 FLNC Louise Daugherty Gene: flnc has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.207 FLNC Louise Daugherty Publications for gene: FLNC were set to
Congenital myopathy v1.206 FLNC Louise Daugherty Phenotypes for gene: FLNC were changed from Myopathy, myofibrillar, 5, 609524 to Myopathy, myofibrillar, 5, 609524; early-onset restrictive cardiomyopathy and congenital myopathy
Congenital myopathy v1.205 FLNC Louise Daugherty Mode of inheritance for gene: FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital muscular dystrophy v1.72 FHL1 Louise Daugherty Classified gene: FHL1 as Green List (high evidence)
Congenital muscular dystrophy v1.72 FHL1 Louise Daugherty Added comment: Comment on list classification: Green gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off. Noted causing a very severe early onset condition.
Congenital muscular dystrophy v1.72 FHL1 Louise Daugherty Gene: fhl1 has been classified as Green List (High Evidence).
Congenital muscular dystrophy v1.71 FHL1 Louise Daugherty gene: FHL1 was added
gene: FHL1 was added to Congenital muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: FHL1 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: FHL1 were set to Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
Review for gene: FHL1 was set to AMBER
Added comment: gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off
Sources: Expert Review
Congenital myopathy v1.204 FHL1 Louise Daugherty Classified gene: FHL1 as Red List (low evidence)
Congenital myopathy v1.204 FHL1 Louise Daugherty Added comment: Comment on list classification: changed from Green to Red- it was felt this gene was better placed on the CMD panel, R79
Congenital myopathy v1.204 FHL1 Louise Daugherty Gene: fhl1 has been classified as Red List (Low Evidence).
Cardiac arrhythmias v1.7 Ivone Leong Changed child panels to: Brugada syndrome; Long QT syndrome; Short QT syndrome; Catecholaminergic polymorphic VT; Cardiac arrhythmias - additional genes
Cardiac arrhythmias - additional genes v0.2 ANK2 Ivone Leong Classified gene: ANK2 as Green List (high evidence)
Cardiac arrhythmias - additional genes v0.2 ANK2 Ivone Leong Gene: ank2 has been classified as Green List (High Evidence).
Cardiac arrhythmias - additional genes v0.1 ANK2 Ivone Leong gene: ANK2 was added
gene: ANK2 was added to Cardiac arrhythmias - additional genes. Sources: NHS GMS
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ANK2 were set to Long QT syndrome 4, 600919; Cardiac arrhythmia, ankyrin-B-related, 600919
Review for gene: ANK2 was set to GREEN
Added comment: Sources: NHS GMS
Cardiac arrhythmias - additional genes v0.0 Ivone Leong Added Panel Cardiac arrhythmias - additional genes
Set panel types to: GMS Rare Disease; Component Of Super Panel
Epidermolysis bullosa and congenital skin fragility v0.24 SPINK5 Catherine Snow edited their review of gene: SPINK5: Added comment: Following discussion with the Genomics England clinical team SPINK5 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 FLG2 Catherine Snow edited their review of gene: FLG2: Added comment: Following discussion with the Genomics England clinical team FLG2 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 ATP2C1 Catherine Snow edited their review of gene: ATP2C1: Added comment: Following discussion with the Genomics England clinical team ATP2C1 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 DSG1 Catherine Snow edited their review of gene: DSG1: Added comment: Following discussion with the Genomics England clinical team DSG1 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 SLC39A4 Catherine Snow edited their review of gene: SLC39A4: Added comment: Following discussion with the Genomics England clinical team SLC39A4 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 IKBKG Catherine Snow edited their review of gene: IKBKG: Added comment: Following discussion with the Genomics England clinical team IKBKG can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 KRT10 Catherine Snow edited their review of gene: KRT10: Added comment: Following discussion with the Genomics England clinical team KRT10 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 KRT1 Catherine Snow edited their review of gene: KRT1: Added comment: Following discussion with the Genomics England clinical team KRT1 can be classified as Green.; Changed rating: GREEN
Progressive cardiac conduction disease v0.45 Ivone Leong Panel types changed to GMS Rare Disease; Component Of Super Panel
Epidermolysis bullosa and congenital skin fragility v0.24 SPINK5 Catherine Snow Classified gene: SPINK5 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.24 SPINK5 Catherine Snow Gene: spink5 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.60 Ivone Leong Panel types changed to GMS Rare Disease; Component Of Super Panel
Epidermolysis bullosa and congenital skin fragility v0.23 FLG2 Catherine Snow Classified gene: FLG2 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.23 FLG2 Catherine Snow Gene: flg2 has been classified as Green List (High Evidence).
Epidermolysis bullosa and congenital skin fragility v0.23 FLG2 Catherine Snow Classified gene: FLG2 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.23 FLG2 Catherine Snow Gene: flg2 has been classified as Green List (High Evidence).
Catecholaminergic polymorphic VT v1.26 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Short QT syndrome v1.26 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Epidermolysis bullosa and congenital skin fragility v0.22 ATP2C1 Catherine Snow Classified gene: ATP2C1 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.22 ATP2C1 Catherine Snow Gene: atp2c1 has been classified as Green List (High Evidence).
Brugada syndrome and cardiac sodium channel disease v1.46 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Epidermolysis bullosa and congenital skin fragility v0.21 DSG1 Catherine Snow Classified gene: DSG1 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.21 DSG1 Catherine Snow Gene: dsg1 has been classified as Green List (High Evidence).
Long QT syndrome v1.46 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Epidermolysis bullosa and congenital skin fragility v0.20 SLC39A4 Catherine Snow Classified gene: SLC39A4 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.20 SLC39A4 Catherine Snow Gene: slc39a4 has been classified as Green List (High Evidence).
Epidermolysis bullosa and congenital skin fragility v0.19 IKBKG Catherine Snow Classified gene: IKBKG as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.19 IKBKG Catherine Snow Gene: ikbkg has been classified as Green List (High Evidence).
Epidermolysis bullosa and congenital skin fragility v0.18 KRT10 Catherine Snow Classified gene: KRT10 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.18 KRT10 Catherine Snow Gene: krt10 has been classified as Green List (High Evidence).
Arrhythmogenic right ventricular cardiomyopathy v1.56 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Epidermolysis bullosa and congenital skin fragility v0.17 KRT1 Catherine Snow Classified gene: KRT1 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.17 KRT1 Catherine Snow Gene: krt1 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v1.92 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Sudden unexplained death or survivors of a cardiac event v1.2 Ivone Leong Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS Rare Disease
Cardiac arrhythmias v1.1 Ivone Leong Panel types changed to GMS Rare Disease Virtual; Super Panel
Cardiac arrhythmias v1.0 Ivone Leong Added Panel Cardiac arrhythmias
Set list of related panels to Cardiac arrythmias
Set child panels to: Brugada syndrome; Long QT syndrome; Short QT syndrome; Catecholaminergic polymorphic VT
Set panel types to: GMS Rare Disease Virtual
Sudden unexplained death or survivors of a cardiac event v1.0 Ivone Leong Added Panel Sudden cardiac death
Set list of related panels to Molecular autopsy; R138
Set child panels to: Hypertrophic cardiomyopathy - teen and adult; Arrhythmogenic cardiomyopathy; Long QT syndrome; Brugada syndrome; Short QT syndrome; Catecholaminergic polymorphic VT; Dilated cardiomyopathy - adult and teen; Progressive cardiac conduction disease
Set panel types to: GMS Rare Disease Virtual; GMS Rare Disease
Intellectual disability v2.1135 FA2H Alistair Pagnamenta reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31135052, 20104589; Phenotypes: HSP, ID, Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.203 VPS33B Louise Daugherty Classified gene: VPS33B as Red List (low evidence)
Congenital myopathy v1.203 VPS33B Louise Daugherty Added comment: Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off- do NOT cause neuromuscular forms of arthrgrogryposis
Congenital myopathy v1.203 VPS33B Louise Daugherty Gene: vps33b has been classified as Red List (Low Evidence).
Congenital muscular dystrophy v1.70 RYR1 Louise Daugherty Classified gene: RYR1 as Red List (low evidence)
Congenital muscular dystrophy v1.70 RYR1 Louise Daugherty Added comment: Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off- this should not be on this panel
Congenital muscular dystrophy v1.70 RYR1 Louise Daugherty Gene: ryr1 has been classified as Red List (Low Evidence).
Congenital myopathy v1.202 FHL1 Louise Daugherty changed review comment from: Comment on list classification: Green gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off; to: Comment on list classification: Green gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off. Noted causing a very severe early onset condition.
Congenital myopathy v1.202 FHL1 Louise Daugherty Classified gene: FHL1 as Green List (high evidence)
Congenital myopathy v1.202 FHL1 Louise Daugherty Added comment: Comment on list classification: Green gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off
Congenital myopathy v1.202 FHL1 Louise Daugherty Gene: fhl1 has been classified as Green List (High Evidence).
Congenital myopathy v1.201 FHL1 Louise Daugherty gene: FHL1 was added
gene: FHL1 was added to Congenital myopathy. Sources: Expert Review
Mode of inheritance for gene: FHL1 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: FHL1 were set to Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
Review for gene: FHL1 was set to AMBER
Added comment: gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off
Sources: Expert Review
Paediatric or syndromic cardiomyopathy v0.54 HGSNAT Ivone Leong Publications for gene: HGSNAT were set to 27604308
Congenital myopathy v1.200 HTRA2 Louise Daugherty Classified gene: HTRA2 as Red List (low evidence)
Congenital myopathy v1.200 HTRA2 Louise Daugherty Added comment: Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off - does not cause a form of CM
Congenital myopathy v1.200 HTRA2 Louise Daugherty Gene: htra2 has been classified as Red List (Low Evidence).
Congenital myopathy v1.199 LGI4 Louise Daugherty Classified gene: LGI4 as Red List (low evidence)
Congenital myopathy v1.199 LGI4 Louise Daugherty Added comment: Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off, gene not for CMY
Congenital myopathy v1.199 LGI4 Louise Daugherty Gene: lgi4 has been classified as Red List (Low Evidence).
Congenital myopathy v1.198 CCDC78 Louise Daugherty commented on gene: CCDC78: Remain Amber unless further evidence supplied by GLH
Congenital myopathy v1.198 DOK7 Louise Daugherty edited their review of gene: DOK7: Added comment: Updated review from Anna Sarkozy as a result of GLH Test Group prior to sign off this is not a CMY gene - rate red; Changed rating: RED
Dilated and arrhythmogenic cardiomyopathy v0.59 FKTN Ivone Leong Publications for gene: FKTN were set to
Congenital myopathy v1.198 ZC4H2 Louise Daugherty Classified gene: ZC4H2 as Red List (low evidence)
Congenital myopathy v1.198 ZC4H2 Louise Daugherty Added comment: Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off
Congenital myopathy v1.198 ZC4H2 Louise Daugherty Gene: zc4h2 has been classified as Red List (Low Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.58 FKRP Ivone Leong Mode of inheritance for gene: FKRP was changed from to BIALLELIC, autosomal or pseudoautosomal
Multiple monogenic benign skin tumours v0.14 PMS2 Catherine Snow Phenotypes for gene: PMS2 were changed from to Muir Torre
Multiple monogenic benign skin tumours v0.13 PMS2 Catherine Snow Classified gene: PMS2 as Amber List (moderate evidence)
Multiple monogenic benign skin tumours v0.13 PMS2 Catherine Snow Gene: pms2 has been classified as Amber List (Moderate Evidence).
Multiple monogenic benign skin tumours v0.12 PMS2 Catherine Snow gene: PMS2 was added
gene: PMS2 was added to Multiple monogenic benign skin tumours. Sources: Expert list
Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: PMS2 was set to AMBER
Added comment: PMS2 is associated with Muir Torre. Clinical guidance from the Genomics England clinical team advised that as Muir Torre genes have been included on the panel PMS2 should also be added as a Amber gene.
Sources: Expert list
Dilated and arrhythmogenic cardiomyopathy v0.57 TTN Ivone Leong Mode of inheritance for gene: TTN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.56 SCN5A Ivone Leong Mode of inheritance for gene: SCN5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.55 MYH7 Ivone Leong Mode of inheritance for gene: MYH7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.54 LMNA Ivone Leong Mode of inheritance for gene: LMNA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.53 LAMP2 Ivone Leong Phenotypes for gene: LAMP2 were changed from Danon disease (OMIM: 300257) to Danon disease (300257)
Dilated and arrhythmogenic cardiomyopathy v0.52 GATA6 Ivone Leong reviewed gene: GATA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 VCL Ivone Leong reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 TTN Ivone Leong reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 TPM1 Ivone Leong reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 TNNT2 Ivone Leong reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 TNNI3K Ivone Leong reviewed gene: TNNI3K: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 TNNI3 Ivone Leong reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 TNNC1 Ivone Leong reviewed gene: TNNC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 TMEM43 Ivone Leong commented on gene: TMEM43: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Dilated and arrhythmogenic cardiomyopathy v0.52 TCAP Ivone Leong reviewed gene: TCAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 TBX20 Ivone Leong reviewed gene: TBX20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 SGCD Ivone Leong reviewed gene: SGCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 SCN5A Ivone Leong reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 RYR2 Ivone Leong edited their review of gene: RYR2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. Demoted from Green to Amber. The group has agreed that this gene should be Amber on this panel. Testing should involve dosage analysis only in this gene.; Changed rating: AMBER
Dilated and arrhythmogenic cardiomyopathy v0.52 RBM20 Ivone Leong reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 PRDM16 Ivone Leong reviewed gene: PRDM16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 PLN Ivone Leong reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 PKP2 Ivone Leong commented on gene: PKP2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Dilated and arrhythmogenic cardiomyopathy v0.52 NKX2-5 Ivone Leong reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 NEXN Ivone Leong reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 MYPN Ivone Leong reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 MYH7 Ivone Leong reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 MYBPC3 Ivone Leong reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 LMNA Ivone Leong reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 LDB3 Ivone Leong reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 LAMP2 Ivone Leong reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 JUP Ivone Leong commented on gene: JUP: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Dilated and arrhythmogenic cardiomyopathy v0.52 GATAD1 Ivone Leong reviewed gene: GATAD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 FLNC Ivone Leong reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 FKTN Ivone Leong reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 FKRP Ivone Leong reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 FHOD3 Ivone Leong reviewed gene: FHOD3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 EYA4 Ivone Leong reviewed gene: EYA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 EMD Ivone Leong reviewed gene: EMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 DSP Ivone Leong commented on gene: DSP: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Dilated and arrhythmogenic cardiomyopathy v0.52 DSG2 Ivone Leong commented on gene: DSG2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Dilated and arrhythmogenic cardiomyopathy v0.52 DSC2 Ivone Leong commented on gene: DSC2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Dilated and arrhythmogenic cardiomyopathy v0.52 DOLK Ivone Leong reviewed gene: DOLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 DMD Ivone Leong reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 DES Ivone Leong edited their review of gene: DES: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Dilated and arrhythmogenic cardiomyopathy v0.52 CSRP3 Ivone Leong reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 CRYAB Ivone Leong reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 CDH2 Ivone Leong reviewed gene: CDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 BAG3 Ivone Leong reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 ANKRD1 Ivone Leong reviewed gene: ANKRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 ANK2 Ivone Leong reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 ACTN2 Ivone Leong reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 ACTC1 Ivone Leong reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 ABCC9 Ivone Leong reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.51 RYR2 Ivone Leong Source Expert Review Amber was added to RYR2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.51 GATA6 Ivone Leong gene: GATA6 was added
gene: GATA6 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.51 EYA4 Ivone Leong Source Expert Review Red was added to EYA4.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Dilated and arrhythmogenic cardiomyopathy v0.51 ABCC9 Ivone Leong Source Expert Review Red was added to ABCC9.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Dilated and arrhythmogenic cardiomyopathy v0.51 LAMP2 Ivone Leong Source Expert Review Green was added to LAMP2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.51 FLNC Ivone Leong Source Expert Review Green was added to FLNC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.51 DMD Ivone Leong Source Expert Review Green was added to DMD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.51 BAG3 Ivone Leong Source Expert Review Green was added to BAG3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.51 ACTC1 Ivone Leong Source Expert Review Green was added to ACTC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.51 NKX2-5 Ivone Leong gene: NKX2-5 was added
gene: NKX2-5 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.51 EMD Ivone Leong gene: EMD was added
gene: EMD was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated and arrhythmogenic cardiomyopathy v0.51 ANK2 Ivone Leong gene: ANK2 was added
gene: ANK2 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.51 TNNI3K Ivone Leong gene: TNNI3K was added
gene: TNNI3K was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.51 FKRP Ivone Leong gene: FKRP was added
gene: FKRP was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FKRP was set to
Dilated and arrhythmogenic cardiomyopathy v0.51 FHOD3 Ivone Leong gene: FHOD3 was added
gene: FHOD3 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: FHOD3 was set to
Dilated and arrhythmogenic cardiomyopathy v0.51 DOLK Ivone Leong gene: DOLK was added
gene: DOLK was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Dilated and arrhythmogenic cardiomyopathy v0.51 CDH2 Ivone Leong gene: CDH2 was added
gene: CDH2 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.51 TBX20 Ivone Leong gene: TBX20 was added
gene: TBX20 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.51 PRDM16 Ivone Leong gene: PRDM16 was added
gene: PRDM16 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.51 MYPN Ivone Leong gene: MYPN was added
gene: MYPN was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: MYPN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated and arrhythmogenic cardiomyopathy v0.51 LDB3 Ivone Leong gene: LDB3 was added
gene: LDB3 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.51 GATAD1 Ivone Leong gene: GATAD1 was added
gene: GATAD1 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: GATAD1 was set to
Dilated and arrhythmogenic cardiomyopathy v0.51 CRYAB Ivone Leong gene: CRYAB was added
gene: CRYAB was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CRYAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.51 ANKRD1 Ivone Leong gene: ANKRD1 was added
gene: ANKRD1 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebral vascular malformations v1.70 THSD1 Louise Daugherty commented on gene: THSD1: Downgraded from Green to Amber. Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - Amber in view intracerebral aneurysms. Unclear on penetrance.
Cerebral vascular malformations v1.70 ADA2 Louise Daugherty commented on gene: ADA2: Downgraded from Green to Amber. Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - Amber in view of Neuro tends to present with stroke secondary to vessel occlusion.
Paediatric or syndromic cardiomyopathy v0.53 CACNA1C Ivone Leong reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.53 MT-TI Ivone Leong reviewed gene: MT-TI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.53 NDUFB8 Ivone Leong edited their review of gene: NDUFB8: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel. Therefore demoted from previous Green status to Amber.; Changed rating: AMBER
Paediatric or syndromic cardiomyopathy v0.53 NDUFA1 Ivone Leong edited their review of gene: NDUFA1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel. Therefore promoted it from Red status to Green.; Changed rating: GREEN
Paediatric or syndromic cardiomyopathy v0.53 MMACHC Ivone Leong edited their review of gene: MMACHC: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel. Therefore demoted from previous Green status to Amber.; Changed rating: AMBER
Paediatric or syndromic cardiomyopathy v0.52 CACNA1C Ivone Leong gene: CACNA1C was added
gene: CACNA1C was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CACNA1C was set to
Paediatric or syndromic cardiomyopathy v0.52 MT-TI Ivone Leong gene: MT-TI was added
gene: MT-TI was added to Cardiomyopathies - including childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL
Paediatric or syndromic cardiomyopathy v0.52 NDUFA1 Ivone Leong Source Expert Review Green was added to NDUFA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.52 NDUFB8 Ivone Leong Source Expert Review Amber was added to NDUFB8.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.52 MMACHC Ivone Leong Source Expert Review Amber was added to MMACHC.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Epidermodysplasia verruciformis v0.12 TMC8 Catherine Snow Added comment: Comment on publications: Publication added which verifies TMC8 as a Green gene
Epidermodysplasia verruciformis v0.12 TMC8 Catherine Snow Publications for gene: TMC8 were set to
Epidermodysplasia verruciformis v0.11 TMC6 Catherine Snow Added comment: Comment on publications: Publication added which verifies TMC6 as a Green gene
Epidermodysplasia verruciformis v0.11 TMC6 Catherine Snow Publications for gene: TMC6 were set to
Epidermodysplasia verruciformis v0.10 CIB1 Catherine Snow Publications for gene: CIB1 were set to
Epidermodysplasia verruciformis v0.9 CIB1 Catherine Snow reviewed gene: CIB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30036492; Phenotypes: ; Mode of inheritance: None
Ectodermal dysplasia v0.34 KRT83 Catherine Snow changed review comment from: KRT81 is in OMIM with relevant phenotype of Monilethrix, KRT81 is part of a family of genes with KRT86 and KRT83 with this phenotype. Less than three individuals identified in KRT83 with phenotype of Monilethrix.

In OMIM in a monoallelic form KRT83 variant has been reported in one Pakistani kindred, associated with Erythrokeratodermia variabilis et progressiva, all family members had normal hair, teeth, and sweating therefore different phenotype.

As neither phenotype has more than three variants identified KRT83 will be classified as Amber.; to: KRT83 is in OMIM with relevant phenotype of Monilethrix, KRT83 is part of a family of genes with KRT86 and KRT81 with this phenotype. Less than three individuals identified in KRT83 with phenotype of Monilethrix.

In OMIM in a monoallelic form KRT83 variant has been reported in one Pakistani kindred, associated with Erythrokeratodermia variabilis et progressiva, all family members had normal hair, teeth, and sweating therefore different phenotype.

As neither phenotype has more than three variants identified KRT83 will be classified as Amber.
Ectodermal dysplasia v0.34 KRT83 Catherine Snow edited their review of gene: KRT83: Added comment: KRT81 is in OMIM with relevant phenotype of Monilethrix, KRT81 is part of a family of genes with KRT86 and KRT83 with this phenotype. Less than three individuals identified in KRT83 with phenotype of Monilethrix.

In OMIM in a monoallelic form KRT83 variant has been reported in one Pakistani kindred, associated with Erythrokeratodermia variabilis et progressiva, all family members had normal hair, teeth, and sweating therefore different phenotype.

As neither phenotype has more than three variants identified KRT83 will be classified as Amber.; Changed phenotypes: Monilethrix, 158000, Erythrokeratodermia variabilis et progressiva, 617756; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal dysplasia v0.34 KRT81 Catherine Snow changed review comment from: KRT81 is in OMIM with relevant phenotype of Monilethrix. Two publications detailing two separate families, which reported that penetrance is variable and one family member had the variant but no reported symptoms. KRT81 currently classified as Amber as less than 3 unrelated individuals identified.; to: KRT81 is in OMIM with relevant phenotype of Monilethrix. Two publications detailing two separate families, which reported that penetrance is variable and one family member had the variant but no reported symptoms, therefore classifying KRT81 as Amber.
Ectodermal dysplasia v0.34 KRT83 Catherine Snow Mode of inheritance for gene: KRT83 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal dysplasia v0.33 KRT81 Catherine Snow edited their review of gene: KRT81: Added comment: KRT81 is in OMIM with relevant phenotype of Monilethrix. Two publications detailing two separate families, which reported that penetrance is variable and one family member had the variant but no reported symptoms. KRT81 currently classified as Amber as less than 3 unrelated individuals identified.; Changed publications: 9402962, 9665406; Changed phenotypes: Monilethrix
Paediatric or syndromic cardiomyopathy v0.51 NAA15 Ivone Leong Mode of inheritance for gene: NAA15 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ectodermal dysplasia v0.33 KRT71 Catherine Snow commented on gene: KRT71: No further cases identified in the literature therefore KRT71 will retain Amber rating
Paediatric or syndromic cardiomyopathy v0.50 GATA6 Ivone Leong Mode of inheritance for gene: GATA6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.49 FKRP Ivone Leong Mode of inheritance for gene: FKRP was changed from to BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia v0.33 RSPO4 Catherine Snow Publications for gene: RSPO4 were set to
Ectodermal dysplasia v0.32 RSPO4 Catherine Snow Classified gene: RSPO4 as Green List (high evidence)
Ectodermal dysplasia v0.32 RSPO4 Catherine Snow Gene: rspo4 has been classified as Green List (High Evidence).
Ectodermal dysplasia v0.31 RSPO4 Catherine Snow edited their review of gene: RSPO4: Added comment: RSPO4 is in OMIM and confirmed in Gene2Phenotype and sufficient number of unrelated individuals reported. Phenotype (absence of nails) is a little on the edge of panel but after discussion with clinical team RSPO4 rated as Green.; Changed rating: GREEN; Changed publications: 17914448, 18070203
Ectodermal dysplasia v0.31 KRT25 Catherine Snow edited their review of gene: KRT25: Changed rating: GREEN
Paediatric or syndromic cardiomyopathy v0.48 ANK2 Ivone Leong Mode of inheritance for gene: ANK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.91 TSFM Ivone Leong Added comment: Comment on mode of inheritance: MOI corrected.
Hypertrophic cardiomyopathy v1.91 TSFM Ivone Leong Mode of inheritance for gene: TSFM was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.47 TNNI3K Ivone Leong Phenotypes for gene: TNNI3K were changed from to Cardiac conduction disease with or without dilated cardiomyopathy 616117
Paediatric or syndromic cardiomyopathy v0.46 TNNI3K Ivone Leong Mode of inheritance for gene: TNNI3K was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.45 TNNI3 Ivone Leong Added comment: Comment on mode of inheritance: MOI corrected.
Paediatric or syndromic cardiomyopathy v0.45 TNNI3 Ivone Leong Mode of inheritance for gene: TNNI3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.44 TAZ Ivone Leong Added comment: Comment on mode of inheritance: MOI corrected to an X-link MOI.
Paediatric or syndromic cardiomyopathy v0.44 TAZ Ivone Leong Mode of inheritance for gene: TAZ was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paediatric or syndromic cardiomyopathy v0.43 SLC25A4 Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from biallelic to both monoallelic and biallelic to reflect the evidence in the literature.
Paediatric or syndromic cardiomyopathy v0.43 SLC25A4 Ivone Leong Mode of inheritance for gene: SLC25A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.42 SLC22A5 Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from monoallelic to both monoallelic and biallelic to reflect what is in the literature.
Paediatric or syndromic cardiomyopathy v0.42 SLC22A5 Ivone Leong Mode of inheritance for gene: SLC22A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.41 SGCD Ivone Leong Phenotypes for gene: SGCD were changed from Cardiomyopathy, dilated, 1L to Cardiomyopathy, dilated, 1L, 606685
Paediatric or syndromic cardiomyopathy v0.40 SGCD Ivone Leong Publications for gene: SGCD were set to
Proteinuric renal disease v1.226 FAT1 Eleanor Williams changed review comment from: Comment on list classification: Changing rating from red to green. Despite concerns about possible variants in other genes in some pedigrees, and lower renal phenotype penetrance in others, it was considered that there is sufficient pedigrees and strong enough functional data to rate this gene green.; to: Comment on list classification: Changing rating from red to green. Despite concerns about possible variants in other genes in some pedigrees, and lower renal phenotype penetrance in others, it was considered that there are sufficient pedigrees and strong enough functional data to rate this gene green.
Proteinuric renal disease v1.226 CLCN5 Eleanor Williams commented on gene: CLCN5: Changed Mode of inheritance to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) because PMID: 25907713 reports that female carriers can have mild symptoms of Dent disease
Intellectual disability v2.1135 SLC5A6 Konstantinos Varvagiannis changed review comment from: SLC5A6 encodes the sodium dependent multivitamin transporter (SMVT), a transporter of biotin, pantothenate and lipoate. The transporter has a major role in vitamin uptake in the digestive system (among others is the sole transporter for intestinal uptake of biotin which is not synthesized and but must be obtained from exogenous sources) as well as transport across the blood-brain barrier (SMVT being responsible for 89% of biotin transport) [several refs provided by Subramanian et al and Byrne et al].

4 affected individuals from 3 families have been reported.

Subramanian et al (2017 - PMID: 27904971) et al reported on a girl with feeding difficulties and failure to thrive (requiring nasogastric tube placement), microcephaly, DD (at 15m developmental age corresponding to 6m with features suggestive of spastic cerebral palsy), occurrence of multiple infections, osteoporosis and pathologic bone fractures. MRIs suggested brain atrophy, thin CC and hypoplasia of the pons. Metabolic (AA, OA) investigations and array-CGH were normal. Whole exome sequencing revealed presence of a missense (Arg123Leu - RefSeq not provided) and a nonsense (Arg94Ter) SLC5A6 variant. Serum biotin was normal although - at the time - the child was on parenteral and G-T nutrition. Following administration of biotin, pantothenic acid and lipoic acid the child demonstrated among others improved motor and verbal skills, head growth and normalization of immunoglobulin levels. Transfection of mutants in human derived intestinal HuTu-80 cells and brain U87 cells was carried out and a 3H-biotin assay showed no induction in biotin uptake confirming impaired functionality of the transporter. While wt protein displayed normal expression/membrane localization, Arg94Ter was poorly expressed with ectopic localization (cytoplasm). Arg123Leu was retained predominantly intracellularly, probably in the ER as was further supported by colocalization with DsRed-ER. Evidence from the literature is provided that deficiencies of the specific vitamins explain the clinical features (DD, microcephaly, immunological defect, osteopenia, etc).

Schwantje et al (2019 - PMID: 31392107) described a girl with severe feeding problems, vomiting with blood (suspected Mallory-Weiss syndrome), poor weight gain and delayed gross motor development. The child presented an episode of gastroenteritis associated with reduced consciousness, circulatory insufficiency and metabolic derangement (hypoglycemia, severe metabolic acidosis, hyperammonemia, mild lactate elevation, ketonuria). Investigations some months prior to the admission (?) were suggestive of a metabolic disorder due to elevated plasma C3-carnitine, C5-OH-carnitine and elevated urinary excretion of 3-OH-isovaleric acid (biotinidase deficiency was considered in the DD but enzymatic activity was only marginally decreased). Biotin supplementation was initiated. Trio-exome sequencing (at 3yrs) demonstrated compound heterozygosity for 2 frameshift variants [NM_021095.2:c.422_423del / p.(Val141Alafs*34) and c.1865_1866del]. Following this result, increase of biotin supplementation and introduction of pantothenic acid, GI symptoms (incl. chronic diarrhea) resolved and the child displayed improved appetite and growth, yet a stable motor delay. The authors cite previous studies of conditional ko mice, displaying intestinal mucosal abnormalities and growth defects (similar to the child's problems), prevented by biotin and pantothenic acid supplementation.

Byrne et al (2019 - PMID: 31754459) reported on a sibling pair with severe motor/speech developmental regression following a plateau (at 12m and 14m), development of ataxia and dyskinetic movements (both), seizures (one). Feeding difficulties, reflux and failure to thrive required N-G/gastrostomy feeding while both presented GI hemorrhage (in the case of the older sib, lethal). Other features in the youngest sib included brain MRI abnormalities (cerebral/cerebellar atrophy, thin CC, etc) and IgG deficiency. Biochemical, single-gene testing and mtDNA sequencing were not diagnostic. Exome in one, revealed presence of a frameshift [c.422_423del as above] and a missense variant (Arg400Thr). Sanger sequencing confirmed variants in both sibs and heterozygosity in parents. HeLa cells transfected with empty vector, wt or mut expression constructs confirmed significantly decreased 3H-biotin uptake for mut constructs compared to wt (and similar to empty vector). Parenteral triple vitamin replacement at the age of ~7 years resulted in improved overall condition, regain of some milestones, attenuation of vomiting, and resolution of peripheral neuropathy. Seizure were well-controlled (as was the case before treatment) despite persistence of epileptiform discharges. Again the authors cite studies of conditional (intestine-specific) SLC5A6 ko mice, with those viable (~1/3) demonstrating growth retardation, decreased boned density and GI abnormalities (similar to affected individuals). The phenotype could be rescued by oversupplementation of biotin and pantothenic acid (PMIDs cited: 23104561, 29669219).

[Please consider inclusion in other relevant panels eg. metabolic disorders]
Sources: Literature; to: SLC5A6 encodes the sodium dependent multivitamin transporter (SMVT), a transporter of biotin, pantothenate and lipoate. The transporter has a major role in vitamin uptake in the digestive system (among others is the sole transporter for intestinal uptake of biotin which is not synthesized but must be obtained from exogenous sources) as well as transport across the blood-brain barrier (SMVT being responsible for 89% of biotin transport) [several refs provided by Subramanian et al and Byrne et al].

4 affected individuals from 3 families have been reported.

Subramanian et al (2017 - PMID: 27904971) et al reported on a girl with feeding difficulties and failure to thrive (requiring nasogastric tube placement), microcephaly, DD (at 15m developmental age corresponding to 6m with features suggestive of spastic cerebral palsy), occurrence of multiple infections, osteoporosis and pathologic bone fractures. MRIs suggested brain atrophy, thin CC and hypoplasia of the pons. Metabolic (AA, OA) investigations and array-CGH were normal. Whole exome sequencing revealed presence of a missense (Arg123Leu - RefSeq not provided) and a nonsense (Arg94Ter) SLC5A6 variant. Serum biotin was normal although - at the time - the child was on parenteral and G-T nutrition. Following administration of biotin, pantothenic acid and lipoic acid the child demonstrated among others improved motor and verbal skills, head growth and normalization of immunoglobulin levels. Transfection of mutants in human derived intestinal HuTu-80 cells and brain U87 cells was carried out and a 3H-biotin assay showed no induction in biotin uptake confirming impaired functionality of the transporter. While wt protein displayed normal expression/membrane localization, Arg94Ter was poorly expressed with ectopic localization (cytoplasm). Arg123Leu was retained predominantly intracellularly, probably in the ER as was further supported by colocalization with DsRed-ER. Evidence from the literature is provided that deficiencies of the specific vitamins explain the clinical features (DD, microcephaly, immunological defect, osteopenia, etc).

Schwantje et al (2019 - PMID: 31392107) described a girl with severe feeding problems, vomiting with blood (suspected Mallory-Weiss syndrome), poor weight gain and delayed gross motor development. The child presented an episode of gastroenteritis associated with reduced consciousness, circulatory insufficiency and metabolic derangement (hypoglycemia, severe metabolic acidosis, hyperammonemia, mild lactate elevation, ketonuria). Investigations some months prior to the admission (?) were suggestive of a metabolic disorder due to elevated plasma C3-carnitine, C5-OH-carnitine and elevated urinary excretion of 3-OH-isovaleric acid (biotinidase deficiency was considered in the DD but enzymatic activity was only marginally decreased). Biotin supplementation was initiated. Trio-exome sequencing (at 3yrs) demonstrated compound heterozygosity for 2 frameshift variants [NM_021095.2:c.422_423del / p.(Val141Alafs*34) and c.1865_1866del]. Following this result, increase of biotin supplementation and introduction of pantothenic acid, GI symptoms (incl. chronic diarrhea) resolved and the child displayed improved appetite and growth, yet a stable motor delay. The authors cite previous studies of conditional ko mice, displaying intestinal mucosal abnormalities and growth defects (similar to the child's problems), prevented by biotin and pantothenic acid supplementation.

Byrne et al (2019 - PMID: 31754459) reported on a sibling pair with severe motor/speech developmental regression following a plateau (at 12m and 14m), development of ataxia and dyskinetic movements (both), seizures (one). Feeding difficulties, reflux and failure to thrive required N-G/gastrostomy feeding while both presented GI hemorrhage (in the case of the older sib, lethal). Other features in the youngest sib included brain MRI abnormalities (cerebral/cerebellar atrophy, thin CC, etc) and IgG deficiency. Biochemical, single-gene testing and mtDNA sequencing were not diagnostic. Exome in one, revealed presence of a frameshift [c.422_423del as above] and a missense variant (Arg400Thr). Sanger sequencing confirmed variants in both sibs and heterozygosity in parents. HeLa cells transfected with empty vector, wt or mut expression constructs confirmed significantly decreased 3H-biotin uptake for mut constructs compared to wt (and similar to empty vector). Parenteral triple vitamin replacement at the age of ~7 years resulted in improved overall condition, regain of some milestones, attenuation of vomiting, and resolution of peripheral neuropathy. Seizure were well-controlled (as was the case before treatment) despite persistence of epileptiform discharges. Again the authors cite studies of conditional (intestine-specific) SLC5A6 ko mice, with those viable (~1/3) demonstrating growth retardation, decreased boned density and GI abnormalities (similar to affected individuals). The phenotype could be rescued by oversupplementation of biotin and pantothenic acid (PMIDs cited: 23104561, 29669219).

[Please consider inclusion in other relevant panels eg. metabolic disorders]
Sources: Literature
Intellectual disability v2.1135 SLC5A6 Konstantinos Varvagiannis gene: SLC5A6 was added
gene: SLC5A6 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 27904971; 31392107; 31754459; 23104561; 29669219
Phenotypes for gene: SLC5A6 were set to Feeding difficulties; Failure to thrive; Global developmental delay; Developmental regression; Intellectual disability; Seizures; Microcephaly; Cerebral atrophy; Abnormality of the corpus callosum; Vomiting; Chronic diarrhea; Gastrointestinal hemorrhage; Abnormal immunoglobulin level; Osteopenia; Abnormality of metabolism/homeostasis
Penetrance for gene: SLC5A6 were set to Complete
Review for gene: SLC5A6 was set to GREEN
Added comment: SLC5A6 encodes the sodium dependent multivitamin transporter (SMVT), a transporter of biotin, pantothenate and lipoate. The transporter has a major role in vitamin uptake in the digestive system (among others is the sole transporter for intestinal uptake of biotin which is not synthesized and but must be obtained from exogenous sources) as well as transport across the blood-brain barrier (SMVT being responsible for 89% of biotin transport) [several refs provided by Subramanian et al and Byrne et al].

4 affected individuals from 3 families have been reported.

Subramanian et al (2017 - PMID: 27904971) et al reported on a girl with feeding difficulties and failure to thrive (requiring nasogastric tube placement), microcephaly, DD (at 15m developmental age corresponding to 6m with features suggestive of spastic cerebral palsy), occurrence of multiple infections, osteoporosis and pathologic bone fractures. MRIs suggested brain atrophy, thin CC and hypoplasia of the pons. Metabolic (AA, OA) investigations and array-CGH were normal. Whole exome sequencing revealed presence of a missense (Arg123Leu - RefSeq not provided) and a nonsense (Arg94Ter) SLC5A6 variant. Serum biotin was normal although - at the time - the child was on parenteral and G-T nutrition. Following administration of biotin, pantothenic acid and lipoic acid the child demonstrated among others improved motor and verbal skills, head growth and normalization of immunoglobulin levels. Transfection of mutants in human derived intestinal HuTu-80 cells and brain U87 cells was carried out and a 3H-biotin assay showed no induction in biotin uptake confirming impaired functionality of the transporter. While wt protein displayed normal expression/membrane localization, Arg94Ter was poorly expressed with ectopic localization (cytoplasm). Arg123Leu was retained predominantly intracellularly, probably in the ER as was further supported by colocalization with DsRed-ER. Evidence from the literature is provided that deficiencies of the specific vitamins explain the clinical features (DD, microcephaly, immunological defect, osteopenia, etc).

Schwantje et al (2019 - PMID: 31392107) described a girl with severe feeding problems, vomiting with blood (suspected Mallory-Weiss syndrome), poor weight gain and delayed gross motor development. The child presented an episode of gastroenteritis associated with reduced consciousness, circulatory insufficiency and metabolic derangement (hypoglycemia, severe metabolic acidosis, hyperammonemia, mild lactate elevation, ketonuria). Investigations some months prior to the admission (?) were suggestive of a metabolic disorder due to elevated plasma C3-carnitine, C5-OH-carnitine and elevated urinary excretion of 3-OH-isovaleric acid (biotinidase deficiency was considered in the DD but enzymatic activity was only marginally decreased). Biotin supplementation was initiated. Trio-exome sequencing (at 3yrs) demonstrated compound heterozygosity for 2 frameshift variants [NM_021095.2:c.422_423del / p.(Val141Alafs*34) and c.1865_1866del]. Following this result, increase of biotin supplementation and introduction of pantothenic acid, GI symptoms (incl. chronic diarrhea) resolved and the child displayed improved appetite and growth, yet a stable motor delay. The authors cite previous studies of conditional ko mice, displaying intestinal mucosal abnormalities and growth defects (similar to the child's problems), prevented by biotin and pantothenic acid supplementation.

Byrne et al (2019 - PMID: 31754459) reported on a sibling pair with severe motor/speech developmental regression following a plateau (at 12m and 14m), development of ataxia and dyskinetic movements (both), seizures (one). Feeding difficulties, reflux and failure to thrive required N-G/gastrostomy feeding while both presented GI hemorrhage (in the case of the older sib, lethal). Other features in the youngest sib included brain MRI abnormalities (cerebral/cerebellar atrophy, thin CC, etc) and IgG deficiency. Biochemical, single-gene testing and mtDNA sequencing were not diagnostic. Exome in one, revealed presence of a frameshift [c.422_423del as above] and a missense variant (Arg400Thr). Sanger sequencing confirmed variants in both sibs and heterozygosity in parents. HeLa cells transfected with empty vector, wt or mut expression constructs confirmed significantly decreased 3H-biotin uptake for mut constructs compared to wt (and similar to empty vector). Parenteral triple vitamin replacement at the age of ~7 years resulted in improved overall condition, regain of some milestones, attenuation of vomiting, and resolution of peripheral neuropathy. Seizure were well-controlled (as was the case before treatment) despite persistence of epileptiform discharges. Again the authors cite studies of conditional (intestine-specific) SLC5A6 ko mice, with those viable (~1/3) demonstrating growth retardation, decreased boned density and GI abnormalities (similar to affected individuals). The phenotype could be rescued by oversupplementation of biotin and pantothenic acid (PMIDs cited: 23104561, 29669219).

[Please consider inclusion in other relevant panels eg. metabolic disorders]
Sources: Literature
Cerebral vascular malformations v1.70 RNF213 Louise Daugherty Publications for gene: RNF213 were set to
Cerebral vascular malformations v1.69 RNF213 Louise Daugherty Mode of inheritance for gene: RNF213 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebral vascular malformations v1.68 CBL Louise Daugherty edited their review of gene: CBL: Changed rating: AMBER
Cerebral vascular malformations v1.68 MYH11 Louise Daugherty edited their review of gene: MYH11: Changed rating: AMBER
Paediatric or syndromic cardiomyopathy v0.39 SCN5A Ivone Leong Mode of inheritance for gene: SCN5A was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.38 PDLIM3 Ivone Leong Mode of inheritance for gene: PDLIM3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.37 PPCS Ivone Leong Phenotypes for gene: PPCS were changed from to Cardiomyopathy, dilated, 2C, 618189
Paediatric or syndromic cardiomyopathy v0.36 PPCS Ivone Leong Mode of inheritance for gene: PPCS was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.35 NONO Ivone Leong Mode of inheritance for gene: NONO was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Paediatric or syndromic cardiomyopathy v0.34 NKX2-5 Ivone Leong Mode of inheritance for gene: NKX2-5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.33 MYL3 Ivone Leong Mode of inheritance for gene: MYL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.32 MYBPC3 Ivone Leong Added comment: Comment on mode of inheritance: MOI changed as HCM can be both monoallelic and biallelic.
Paediatric or syndromic cardiomyopathy v0.32 MYBPC3 Ivone Leong Mode of inheritance for gene: MYBPC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.31 MLYCD Ivone Leong Publications for gene: MLYCD were set to 27604308
Paediatric or syndromic cardiomyopathy v0.30 LRPPRC Ivone Leong Publications for gene: LRPPRC were set to
Paediatric or syndromic cardiomyopathy v0.29 LMNA Ivone Leong Added comment: Comment on mode of inheritance: MOI changed to reflect the different MOI of relevant cardiac phenotypes.
Paediatric or syndromic cardiomyopathy v0.29 LMNA Ivone Leong Mode of inheritance for gene: LMNA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal dysplasia v0.31 GRHL2 Catherine Snow Classified gene: GRHL2 as Amber List (moderate evidence)
Ectodermal dysplasia v0.31 GRHL2 Catherine Snow Added comment: Comment on list classification: 2 unrelated consanguineous Kuwaiti families with short stature and ectodermal dysplasia syndrome were reported in PMID: 25152456 no further cases reported therefore classifying GRHL2 as Amber.
Ectodermal dysplasia v0.31 GRHL2 Catherine Snow Gene: grhl2 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v0.28 JPH2 Ivone Leong Mode of inheritance for gene: JPH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.27 HCN4 Ivone Leong Mode of inheritance for gene: HCN4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.26 FHL1 Ivone Leong Added comment: Comment on mode of inheritance: MOI changed to match that in Hypertrophic cardiomyopathy - teen and adult panel (code: 49, version 1.90).
Paediatric or syndromic cardiomyopathy v0.26 FHL1 Ivone Leong Mode of inheritance for gene: FHL1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ectodermal dysplasia v0.30 GRHL2 Catherine Snow Publications for gene: GRHL2 were set to
Ectodermal dysplasia v0.29 GJB2 Catherine Snow commented on gene: GJB2
Paediatric or syndromic cardiomyopathy v0.25 FLNC Ivone Leong Mode of inheritance for gene: FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ectodermal dysplasia v0.29 KRT25 Catherine Snow Publications for gene: KRT25 were set to
Ectodermal dysplasia v0.28 KRT25 Catherine Snow Classified gene: KRT25 as Green List (high evidence)
Ectodermal dysplasia v0.28 KRT25 Catherine Snow Added comment: Comment on list classification: Reviewed by member of Genomics England clinical team, suggested Green rating. Appropriate gene to phenotype in OMIM and reported in >3 families.
Ectodermal dysplasia v0.28 KRT25 Catherine Snow Gene: krt25 has been classified as Green List (High Evidence).
Paediatric or syndromic cardiomyopathy v0.24 ABCC9 Ivone Leong Publications for gene: ABCC9 were set to
Paediatric or syndromic cardiomyopathy v0.23 AARS2 Ivone Leong Publications for gene: AARS2 were set to 25058219; PMID: 21549344
Paediatric or syndromic cardiomyopathy v0.22 ALPK3 Ivone Leong Phenotypes for gene: ALPK3 were changed from to Cardiomyopathy, familial hypertrophic 27, 618052
Paediatric or syndromic cardiomyopathy v0.21 ALPK3 Ivone Leong Mode of inheritance for gene: ALPK3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.20 ALMS1 Ivone Leong Publications for gene: ALMS1 were set to PMID: 15689433
Paediatric or syndromic cardiomyopathy v0.19 AGK Ivone Leong Phenotypes for gene: AGK were changed from to Sengers syndrome, 212350
Paediatric or syndromic cardiomyopathy v0.18 AGK Ivone Leong Mode of inheritance for gene: AGK was changed from to BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia v0.27 CREBBP Catherine Snow Classified gene: CREBBP as Red List (low evidence)
Ectodermal dysplasia v0.27 CREBBP Catherine Snow Added comment: Comment on list classification: Currently no gene disease association can be found.
Ectodermal dysplasia v0.27 CREBBP Catherine Snow Gene: crebbp has been classified as Red List (Low Evidence).
Ectodermal dysplasia v0.26 DHX40 Catherine Snow Classified gene: DHX40 as Red List (low evidence)
Ectodermal dysplasia v0.26 DHX40 Catherine Snow Added comment: Comment on list classification: Currently no gene disease association can be found.
Ectodermal dysplasia v0.26 DHX40 Catherine Snow Gene: dhx40 has been classified as Red List (Low Evidence).
Ectodermal dysplasia v0.25 DHX30 Catherine Snow Classified gene: DHX30 as Red List (low evidence)
Ectodermal dysplasia v0.25 DHX30 Catherine Snow Added comment: Comment on list classification: Currently no gene disease association can be found.
Ectodermal dysplasia v0.25 DHX30 Catherine Snow Gene: dhx30 has been classified as Red List (Low Evidence).
Paediatric or syndromic cardiomyopathy v0.17 ACADVL Ivone Leong Publications for gene: ACADVL were set to National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp; 27604308
Paediatric or syndromic cardiomyopathy v0.16 UQCRB Ivone Leong edited their review of gene: UQCRB: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 TTR Ivone Leong reviewed gene: TTR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TTC19 Ivone Leong edited their review of gene: TTC19: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 TMPO Ivone Leong reviewed gene: TMPO: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TGFB3 Ivone Leong reviewed gene: TGFB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TCAP Ivone Leong reviewed gene: TCAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TACO1 Ivone Leong edited their review of gene: TACO1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 TAB2 Ivone Leong reviewed gene: TAB2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 SPRED1 Ivone Leong reviewed gene: SPRED1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 NEBL Ivone Leong reviewed gene: NEBL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 NDUFAF8 Ivone Leong edited their review of gene: NDUFAF8: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 NDUFAF6 Ivone Leong edited their review of gene: NDUFAF6: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 NDUFA9 Ivone Leong edited their review of gene: NDUFA9: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 NDUFA6 Ivone Leong edited their review of gene: NDUFA6: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 NDUFA1 Ivone Leong edited their review of gene: NDUFA1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 LYRM7 Ivone Leong edited their review of gene: LYRM7: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 LAMA4 Ivone Leong reviewed gene: LAMA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ILK Ivone Leong reviewed gene: ILK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 GNS Ivone Leong reviewed gene: GNS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 GLRA1 Ivone Leong reviewed gene: GLRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 GBE1 Ivone Leong reviewed gene: GBE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 GALNS Ivone Leong reviewed gene: GALNS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ETFDH Ivone Leong reviewed gene: ETFDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ETFB Ivone Leong reviewed gene: ETFB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ETFA Ivone Leong reviewed gene: ETFA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 EMD Ivone Leong reviewed gene: EMD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 DTNA Ivone Leong reviewed gene: DTNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 DHCR7 Ivone Leong reviewed gene: DHCR7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 CYC1 Ivone Leong edited their review of gene: CYC1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 CTF1 Ivone Leong reviewed gene: CTF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 CPS1 Ivone Leong reviewed gene: CPS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 COX6A1 Ivone Leong edited their review of gene: COX6A1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 COA7 Ivone Leong edited their review of gene: COA7: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 BTK Ivone Leong reviewed gene: BTK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 BCS1L Ivone Leong edited their review of gene: BCS1L: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 B3GAT3 Ivone Leong reviewed gene: B3GAT3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 APOPT1 Ivone Leong edited their review of gene: APOPT1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 ANKRD1 Ivone Leong reviewed gene: ANKRD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 UQCC2 Ivone Leong edited their review of gene: UQCC2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Paediatric or syndromic cardiomyopathy v0.16 SGSH Ivone Leong reviewed gene: SGSH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 RASA2 Ivone Leong reviewed gene: RASA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PET100 Ivone Leong edited their review of gene: PET100: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Paediatric or syndromic cardiomyopathy v0.16 NDUFA4 Ivone Leong edited their review of gene: NDUFA4: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Paediatric or syndromic cardiomyopathy v0.16 NAGLU Ivone Leong reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 NAA15 Ivone Leong reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 LDB3 Ivone Leong reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 HGSNAT Ivone Leong reviewed gene: HGSNAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 HFE Ivone Leong reviewed gene: HFE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 GLA Ivone Leong reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 GATA6 Ivone Leong reviewed gene: GATA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 FOXRED1 Ivone Leong edited their review of gene: FOXRED1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Paediatric or syndromic cardiomyopathy v0.16 FKRP Ivone Leong reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 FASTKD2 Ivone Leong edited their review of gene: FASTKD2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Paediatric or syndromic cardiomyopathy v0.16 EYA4 Ivone Leong reviewed gene: EYA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 CSRP3 Ivone Leong reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 CRYAB Ivone Leong reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 COX7B Ivone Leong edited their review of gene: COX7B: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Paediatric or syndromic cardiomyopathy v0.16 ANK2 Ivone Leong reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 VCL Ivone Leong reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TTN Ivone Leong reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TSFM Ivone Leong reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TPM1 Ivone Leong reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TNNT2 Ivone Leong reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TNNI3K Ivone Leong reviewed gene: TNNI3K: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TNNI3 Ivone Leong reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TNNC1 Ivone Leong reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TMEM70 Ivone Leong commented on gene: TMEM70: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 TMEM43 Ivone Leong reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TMEM126B Ivone Leong commented on gene: TMEM126B: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 TAZ Ivone Leong reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 SURF1 Ivone Leong commented on gene: SURF1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 SOS2 Ivone Leong reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 SOS1 Ivone Leong reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 SLC25A4 Ivone Leong reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 SLC25A20 Ivone Leong reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 SLC22A5 Ivone Leong reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 SHOC2 Ivone Leong reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 SGCD Ivone Leong reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 SDHD Ivone Leong commented on gene: SDHD: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 SDHAF1 Ivone Leong commented on gene: SDHAF1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 SDHA Ivone Leong commented on gene: SDHA: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 SCO2 Ivone Leong commented on gene: SCO2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 SCO1 Ivone Leong commented on gene: SCO1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 SCN5A Ivone Leong reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 RYR2 Ivone Leong reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 RIT1 Ivone Leong reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 RBM20 Ivone Leong reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 RAF1 Ivone Leong reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PTPN11 Ivone Leong reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PRKAG2 Ivone Leong reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PPP1R13L Ivone Leong reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PPP1CB Ivone Leong reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PPCS Ivone Leong reviewed gene: PPCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ectodermal dysplasia v0.24 WNT7A Catherine Snow Classified gene: WNT7A as Red List (low evidence)
Ectodermal dysplasia v0.24 WNT7A Catherine Snow Added comment: Comment on list classification: Currently no gene disease association can be found.
Paediatric or syndromic cardiomyopathy v0.16 PPA2 Ivone Leong reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ectodermal dysplasia v0.24 WNT7A Catherine Snow Gene: wnt7a has been classified as Red List (Low Evidence).
Paediatric or syndromic cardiomyopathy v0.16 PNPLA2 Ivone Leong reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PLN Ivone Leong reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PKP2 Ivone Leong reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PDLIM3 Ivone Leong reviewed gene: PDLIM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PCCB Ivone Leong reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PCCA Ivone Leong reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 NUBPL Ivone Leong commented on gene: NUBPL: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NRAS Ivone Leong reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 NONO Ivone Leong reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 NKX2-5 Ivone Leong reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 NF1 Ivone Leong reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 NEXN Ivone Leong reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 NDUFV2 Ivone Leong commented on gene: NDUFV2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFV1 Ivone Leong commented on gene: NDUFV1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFS8 Ivone Leong commented on gene: NDUFS8: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFS7 Ivone Leong commented on gene: NDUFS7: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFS6 Ivone Leong commented on gene: NDUFS6: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFS4 Ivone Leong commented on gene: NDUFS4: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFS3 Ivone Leong commented on gene: NDUFS3: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFS2 Ivone Leong commented on gene: NDUFS2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFS1 Ivone Leong commented on gene: NDUFS1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFB8 Ivone Leong commented on gene: NDUFB8: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFB3 Ivone Leong commented on gene: NDUFB3: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFB11 Ivone Leong commented on gene: NDUFB11: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFAF5 Ivone Leong commented on gene: NDUFAF5: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFAF4 Ivone Leong commented on gene: NDUFAF4: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFAF3 Ivone Leong commented on gene: NDUFAF3: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFAF2 Ivone Leong commented on gene: NDUFAF2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFAF1 Ivone Leong commented on gene: NDUFAF1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFA2 Ivone Leong commented on gene: NDUFA2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFA11 Ivone Leong commented on gene: NDUFA11: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFA10 Ivone Leong commented on gene: NDUFA10: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 HCN4 Ivone Leong reviewed gene: HCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MYPN Ivone Leong reviewed gene: MYPN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MYL3 Ivone Leong reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MYL2 Ivone Leong reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MYH7 Ivone Leong reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MYH6 Ivone Leong reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MYBPC3 Ivone Leong reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MUT Ivone Leong reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MRPL44 Ivone Leong reviewed gene: MRPL44: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MMACHC Ivone Leong reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MLYCD Ivone Leong reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MIB1 Ivone Leong reviewed gene: MIB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MAP2K2 Ivone Leong reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MAP2K1 Ivone Leong reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 LZTR1 Ivone Leong reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 LRPPRC Ivone Leong commented on gene: LRPPRC: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 LMNA Ivone Leong reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 LAMP2 Ivone Leong reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 KRAS Ivone Leong reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 JUP Ivone Leong reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 JPH2 Ivone Leong reviewed gene: JPH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 IDUA Ivone Leong reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 IDS Ivone Leong reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 IDH2 Ivone Leong reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 HRAS Ivone Leong reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 HADHB Ivone Leong reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 HADHA Ivone Leong reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 GUSB Ivone Leong reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 GLB1 Ivone Leong reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 GAA Ivone Leong reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 FLNC Ivone Leong reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 FKTN Ivone Leong reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 FHL1 Ivone Leong reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 FAH Ivone Leong reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 EPG5 Ivone Leong reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 DSP Ivone Leong reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 DSG2 Ivone Leong reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 DSC2 Ivone Leong reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 DOLK Ivone Leong reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 DNAJC19 Ivone Leong reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 DMD Ivone Leong reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 DES Ivone Leong reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 CPT2 Ivone Leong reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 COX6B1 Ivone Leong commented on gene: COX6B1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 COX20 Ivone Leong commented on gene: COX20: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 COX15 Ivone Leong commented on gene: COX15: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 COX14 Ivone Leong commented on gene: COX14: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 COX10 Ivone Leong commented on gene: COX10: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 COA6 Ivone Leong commented on gene: COA6: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 COA5 Ivone Leong commented on gene: COA5: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 CBL Ivone Leong reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 BRAF Ivone Leong reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 BAG3 Ivone Leong reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ATPAF2 Ivone Leong commented on gene: ATPAF2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 ATP5D Ivone Leong commented on gene: ATP5D: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 ARSB Ivone Leong reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ALPK3 Ivone Leong reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ALMS1 Ivone Leong reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 AGL Ivone Leong reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 AGK Ivone Leong reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ACTN2 Ivone Leong reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ACTC1 Ivone Leong reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ACTA1 Ivone Leong reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ACADVL Ivone Leong reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ACAD9 Ivone Leong commented on gene: ACAD9: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 ABCC9 Ivone Leong reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 AARS2 Ivone Leong reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ectodermal dysplasia v0.23 AR Catherine Snow Classified gene: AR as Red List (low evidence)
Ectodermal dysplasia v0.23 AR Catherine Snow Added comment: Comment on list classification: No gene disease association can be found.
Ectodermal dysplasia v0.23 AR Catherine Snow Gene: ar has been classified as Red List (Low Evidence).
Paediatric or syndromic cardiomyopathy v0.15 UQCRB Ivone Leong Source Expert Review Red was added to UQCRB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 TTR Ivone Leong Source Expert Review Red was added to TTR.
Source NHS GMS was added to TTR.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 TTC19 Ivone Leong Source Expert Review Red was added to TTC19.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 TMPO Ivone Leong Source NHS GMS was added to TMPO.
Paediatric or syndromic cardiomyopathy v0.15 TGFB3 Ivone Leong Source NHS GMS was added to TGFB3.
Paediatric or syndromic cardiomyopathy v0.15 TCAP Ivone Leong Source Expert Review Red was added to TCAP.
Source NHS GMS was added to TCAP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 TACO1 Ivone Leong Source Expert Review Red was added to TACO1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 TAB2 Ivone Leong Source Expert Review Red was added to TAB2.
Source NHS GMS was added to TAB2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 SPRED1 Ivone Leong Source Expert Review Red was added to SPRED1.
Source NHS GMS was added to SPRED1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 NEBL Ivone Leong Source NHS GMS was added to NEBL.
Paediatric or syndromic cardiomyopathy v0.15 NDUFAF8 Ivone Leong Source Expert Review Red was added to NDUFAF8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 NDUFAF6 Ivone Leong Source Expert Review Red was added to NDUFAF6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 NDUFA9 Ivone Leong Source Expert Review Red was added to NDUFA9.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 NDUFA6 Ivone Leong Source Expert Review Red was added to NDUFA6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 NDUFA1 Ivone Leong Source Expert Review Red was added to NDUFA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 LYRM7 Ivone Leong Source Expert Review Red was added to LYRM7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 LAMA4 Ivone Leong Source NHS GMS was added to LAMA4.
Paediatric or syndromic cardiomyopathy v0.15 ILK Ivone Leong Source NHS GMS was added to ILK.
Paediatric or syndromic cardiomyopathy v0.15 GNS Ivone Leong Source Expert Review Red was added to GNS.
Source NHS GMS was added to GNS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 GLRA1 Ivone Leong Source Expert Review Red was added to GLRA1.
Source NHS GMS was added to GLRA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 GBE1 Ivone Leong Source Expert Review Red was added to GBE1.
Source NHS GMS was added to GBE1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 GALNS Ivone Leong Source Expert Review Red was added to GALNS.
Source NHS GMS was added to GALNS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 ETFDH Ivone Leong Source Expert Review Red was added to ETFDH.
Source NHS GMS was added to ETFDH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 ETFB Ivone Leong Source Expert Review Red was added to ETFB.
Source NHS GMS was added to ETFB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 ETFA Ivone Leong Source Expert Review Red was added to ETFA.
Source NHS GMS was added to ETFA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 EMD Ivone Leong Source NHS GMS was added to EMD.
Paediatric or syndromic cardiomyopathy v0.15 DTNA Ivone Leong Source NHS GMS was added to DTNA.
Paediatric or syndromic cardiomyopathy v0.15 DHCR7 Ivone Leong Source Expert Review Red was added to DHCR7.
Source NHS GMS was added to DHCR7.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 CYC1 Ivone Leong Source Expert Review Red was added to CYC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 CTF1 Ivone Leong Source NHS GMS was added to CTF1.
Paediatric or syndromic cardiomyopathy v0.15 CPS1 Ivone Leong Source Expert Review Red was added to CPS1.
Source NHS GMS was added to CPS1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 COX6A1 Ivone Leong Source Expert Review Red was added to COX6A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 COA7 Ivone Leong Source Expert Review Red was added to COA7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 BTK Ivone Leong gene: BTK was added
gene: BTK was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: BTK was set to
Paediatric or syndromic cardiomyopathy v0.15 BCS1L Ivone Leong Source Expert Review Red was added to BCS1L.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 B3GAT3 Ivone Leong Source Expert Review Red was added to B3GAT3.
Source NHS GMS was added to B3GAT3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 APOPT1 Ivone Leong Source Expert Review Red was added to APOPT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 ANKRD1 Ivone Leong Source Expert Review Red was added to ANKRD1.
Source NHS GMS was added to ANKRD1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 UQCC2 Ivone Leong Source Expert Review Amber was added to UQCC2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 SGSH Ivone Leong Source NHS GMS was added to SGSH.
Source Expert Review Amber was added to SGSH.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 RASA2 Ivone Leong Source NHS GMS was added to RASA2.
Source Expert Review Amber was added to RASA2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 PET100 Ivone Leong Source Expert Review Amber was added to PET100.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 NDUFA4 Ivone Leong Source Expert Review Amber was added to NDUFA4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 NAGLU Ivone Leong Source NHS GMS was added to NAGLU.
Source Expert Review Amber was added to NAGLU.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 NAA15 Ivone Leong gene: NAA15 was added
gene: NAA15 was added to Cardiomyopathies - including childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NAA15 was set to
Paediatric or syndromic cardiomyopathy v0.15 LDB3 Ivone Leong Source NHS GMS was added to LDB3.
Source Expert Review Amber was added to LDB3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 HGSNAT Ivone Leong Source NHS GMS was added to HGSNAT.
Source Expert Review Amber was added to HGSNAT.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 HFE Ivone Leong Source NHS GMS was added to HFE.
Source Expert Review Amber was added to HFE.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 GLA Ivone Leong Source NHS GMS was added to GLA.
Source Expert Review Amber was added to GLA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 GATA6 Ivone Leong gene: GATA6 was added
gene: GATA6 was added to Cardiomyopathies - including childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GATA6 was set to
Paediatric or syndromic cardiomyopathy v0.15 FOXRED1 Ivone Leong Source Expert Review Amber was added to FOXRED1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 FKRP Ivone Leong gene: FKRP was added
gene: FKRP was added to Cardiomyopathies - including childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FKRP was set to
Paediatric or syndromic cardiomyopathy v0.15 FASTKD2 Ivone Leong Source Expert Review Amber was added to FASTKD2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 EYA4 Ivone Leong Source NHS GMS was added to EYA4.
Source Expert Review Amber was added to EYA4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 CSRP3 Ivone Leong Source NHS GMS was added to CSRP3.
Source Expert Review Amber was added to CSRP3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 CRYAB Ivone Leong Source NHS GMS was added to CRYAB.
Paediatric or syndromic cardiomyopathy v0.15 COX7B Ivone Leong Source Expert Review Amber was added to COX7B.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 ANK2 Ivone Leong gene: ANK2 was added
gene: ANK2 was added to Cardiomyopathies - including childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ANK2 was set to
Paediatric or syndromic cardiomyopathy v0.15 VCL Ivone Leong Source NHS GMS was added to VCL.
Paediatric or syndromic cardiomyopathy v0.15 TTN Ivone Leong Source NHS GMS was added to TTN.
Paediatric or syndromic cardiomyopathy v0.15 TSFM Ivone Leong Source NHS GMS was added to TSFM.
Paediatric or syndromic cardiomyopathy v0.15 TPM1 Ivone Leong Source NHS GMS was added to TPM1.
Paediatric or syndromic cardiomyopathy v0.15 TNNT2 Ivone Leong Source NHS GMS was added to TNNT2.
Paediatric or syndromic cardiomyopathy v0.15 TNNI3K Ivone Leong gene: TNNI3K was added
gene: TNNI3K was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TNNI3K was set to
Paediatric or syndromic cardiomyopathy v0.15 TNNI3 Ivone Leong Source NHS GMS was added to TNNI3.
Paediatric or syndromic cardiomyopathy v0.15 TNNC1 Ivone Leong Source NHS GMS was added to TNNC1.
Paediatric or syndromic cardiomyopathy v0.15 TMEM43 Ivone Leong Source NHS GMS was added to TMEM43.
Paediatric or syndromic cardiomyopathy v0.15 TAZ Ivone Leong Source NHS GMS was added to TAZ.
Paediatric or syndromic cardiomyopathy v0.15 SOS2 Ivone Leong Source NHS GMS was added to SOS2.
Paediatric or syndromic cardiomyopathy v0.15 SOS1 Ivone Leong Source NHS GMS was added to SOS1.
Paediatric or syndromic cardiomyopathy v0.15 SLC25A4 Ivone Leong Source NHS GMS was added to SLC25A4.
Paediatric or syndromic cardiomyopathy v0.15 SLC25A20 Ivone Leong Source NHS GMS was added to SLC25A20.
Paediatric or syndromic cardiomyopathy v0.15 SLC22A5 Ivone Leong Source NHS GMS was added to SLC22A5.
Paediatric or syndromic cardiomyopathy v0.15 SHOC2 Ivone Leong Source NHS GMS was added to SHOC2.
Paediatric or syndromic cardiomyopathy v0.15 SGCD Ivone Leong Source NHS GMS was added to SGCD.
Paediatric or syndromic cardiomyopathy v0.15 SCN5A Ivone Leong Source NHS GMS was added to SCN5A.
Paediatric or syndromic cardiomyopathy v0.15 RYR2 Ivone Leong Source NHS GMS was added to RYR2.
Paediatric or syndromic cardiomyopathy v0.15 RIT1 Ivone Leong Source NHS GMS was added to RIT1.
Paediatric or syndromic cardiomyopathy v0.15 RBM20 Ivone Leong Source NHS GMS was added to RBM20.
Paediatric or syndromic cardiomyopathy v0.15 RAF1 Ivone Leong Source NHS GMS was added to RAF1.
Paediatric or syndromic cardiomyopathy v0.15 PTPN11 Ivone Leong Source NHS GMS was added to PTPN11.
Paediatric or syndromic cardiomyopathy v0.15 PRKAG2 Ivone Leong Source NHS GMS was added to PRKAG2.
Paediatric or syndromic cardiomyopathy v0.15 PPP1R13L Ivone Leong Source NHS GMS was added to PPP1R13L.
Paediatric or syndromic cardiomyopathy v0.15 PPP1CB Ivone Leong Source NHS GMS was added to PPP1CB.
Paediatric or syndromic cardiomyopathy v0.15 PPCS Ivone Leong gene: PPCS was added
gene: PPCS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PPCS was set to
Paediatric or syndromic cardiomyopathy v0.15 PPA2 Ivone Leong Source NHS GMS was added to PPA2.
Paediatric or syndromic cardiomyopathy v0.15 PNPLA2 Ivone Leong Source NHS GMS was added to PNPLA2.
Paediatric or syndromic cardiomyopathy v0.15 PLN Ivone Leong Source NHS GMS was added to PLN.
Paediatric or syndromic cardiomyopathy v0.15 PKP2 Ivone Leong Source NHS GMS was added to PKP2.
Paediatric or syndromic cardiomyopathy v0.15 PDLIM3 Ivone Leong Source Expert Review Green was added to PDLIM3.
Source NHS GMS was added to PDLIM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.15 PCCB Ivone Leong Source NHS GMS was added to PCCB.
Paediatric or syndromic cardiomyopathy v0.15 PCCA Ivone Leong Source NHS GMS was added to PCCA.
Paediatric or syndromic cardiomyopathy v0.15 NRAS Ivone Leong Source NHS GMS was added to NRAS.
Paediatric or syndromic cardiomyopathy v0.15 NONO Ivone Leong gene: NONO was added
gene: NONO was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NONO was set to
Paediatric or syndromic cardiomyopathy v0.15 NKX2-5 Ivone Leong Source Expert Review Green was added to NKX2-5.
Source NHS GMS was added to NKX2-5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.15 NF1 Ivone Leong Source NHS GMS was added to NF1.
Paediatric or syndromic cardiomyopathy v0.15 NEXN Ivone Leong Source NHS GMS was added to NEXN.
Paediatric or syndromic cardiomyopathy v0.15 HCN4 Ivone Leong gene: HCN4 was added
gene: HCN4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HCN4 was set to
Paediatric or syndromic cardiomyopathy v0.15 MYPN Ivone Leong Source NHS GMS was added to MYPN.
Paediatric or syndromic cardiomyopathy v0.15 MYL3 Ivone Leong Source NHS GMS was added to MYL3.
Paediatric or syndromic cardiomyopathy v0.15 MYL2 Ivone Leong Source NHS GMS was added to MYL2.
Paediatric or syndromic cardiomyopathy v0.15 MYH7 Ivone Leong Source NHS GMS was added to MYH7.
Paediatric or syndromic cardiomyopathy v0.15 MYH6 Ivone Leong Source NHS GMS was added to MYH6.
Paediatric or syndromic cardiomyopathy v0.15 MYBPC3 Ivone Leong Source NHS GMS was added to MYBPC3.
Paediatric or syndromic cardiomyopathy v0.15 MUT Ivone Leong Source NHS GMS was added to MUT.
Paediatric or syndromic cardiomyopathy v0.15 MRPL44 Ivone Leong Source NHS GMS was added to MRPL44.
Paediatric or syndromic cardiomyopathy v0.15 MMACHC Ivone Leong Source NHS GMS was added to MMACHC.
Paediatric or syndromic cardiomyopathy v0.15 MLYCD Ivone Leong Source NHS GMS was added to MLYCD.
Paediatric or syndromic cardiomyopathy v0.15 MIB1 Ivone Leong Source NHS GMS was added to MIB1.
Paediatric or syndromic cardiomyopathy v0.15 MAP2K2 Ivone Leong Source NHS GMS was added to MAP2K2.
Paediatric or syndromic cardiomyopathy v0.15 MAP2K1 Ivone Leong Source NHS GMS was added to MAP2K1.
Paediatric or syndromic cardiomyopathy v0.15 LZTR1 Ivone Leong Source NHS GMS was added to LZTR1.
Paediatric or syndromic cardiomyopathy v0.15 LMNA Ivone Leong Source NHS GMS was added to LMNA.
Paediatric or syndromic cardiomyopathy v0.15 LAMP2 Ivone Leong Source NHS GMS was added to LAMP2.
Paediatric or syndromic cardiomyopathy v0.15 KRAS Ivone Leong Source NHS GMS was added to KRAS.
Paediatric or syndromic cardiomyopathy v0.15 JUP Ivone Leong Source NHS GMS was added to JUP.
Paediatric or syndromic cardiomyopathy v0.15 JPH2 Ivone Leong gene: JPH2 was added
gene: JPH2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: JPH2 was set to
Paediatric or syndromic cardiomyopathy v0.15 IDUA Ivone Leong Source NHS GMS was added to IDUA.
Paediatric or syndromic cardiomyopathy v0.15 IDS Ivone Leong Source NHS GMS was added to IDS.
Paediatric or syndromic cardiomyopathy v0.15 IDH2 Ivone Leong Source NHS GMS was added to IDH2.
Paediatric or syndromic cardiomyopathy v0.15 HRAS Ivone Leong Source NHS GMS was added to HRAS.
Paediatric or syndromic cardiomyopathy v0.15 HADHB Ivone Leong Source NHS GMS was added to HADHB.
Paediatric or syndromic cardiomyopathy v0.15 HADHA Ivone Leong Source NHS GMS was added to HADHA.
Paediatric or syndromic cardiomyopathy v0.15 GUSB Ivone Leong Source NHS GMS was added to GUSB.
Paediatric or syndromic cardiomyopathy v0.15 GLB1 Ivone Leong Source NHS GMS was added to GLB1.
Paediatric or syndromic cardiomyopathy v0.15 GAA Ivone Leong Source NHS GMS was added to GAA.
Paediatric or syndromic cardiomyopathy v0.15 FLNC Ivone Leong gene: FLNC was added
gene: FLNC was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FLNC was set to
Paediatric or syndromic cardiomyopathy v0.15 FKTN Ivone Leong Source NHS GMS was added to FKTN.
Paediatric or syndromic cardiomyopathy v0.15 FHL1 Ivone Leong Source NHS GMS was added to FHL1.
Paediatric or syndromic cardiomyopathy v0.15 FAH Ivone Leong Source NHS GMS was added to FAH.
Paediatric or syndromic cardiomyopathy v0.15 EPG5 Ivone Leong Source NHS GMS was added to EPG5.
Paediatric or syndromic cardiomyopathy v0.15 DSP Ivone Leong Source NHS GMS was added to DSP.
Paediatric or syndromic cardiomyopathy v0.15 DSG2 Ivone Leong Source NHS GMS was added to DSG2.
Paediatric or syndromic cardiomyopathy v0.15 DSC2 Ivone Leong Source NHS GMS was added to DSC2.
Paediatric or syndromic cardiomyopathy v0.15 DOLK Ivone Leong Source NHS GMS was added to DOLK.
Paediatric or syndromic cardiomyopathy v0.15 DNAJC19 Ivone Leong Source NHS GMS was added to DNAJC19.
Paediatric or syndromic cardiomyopathy v0.15 DMD Ivone Leong Source NHS GMS was added to DMD.
Paediatric or syndromic cardiomyopathy v0.15 DES Ivone Leong Source NHS GMS was added to DES.
Paediatric or syndromic cardiomyopathy v0.15 CPT2 Ivone Leong Source NHS GMS was added to CPT2.
Paediatric or syndromic cardiomyopathy v0.15 COA5 Ivone Leong Source Expert Review Green was added to COA5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.15 CBL Ivone Leong Source NHS GMS was added to CBL.
Paediatric or syndromic cardiomyopathy v0.15 BRAF Ivone Leong Source NHS GMS was added to BRAF.
Paediatric or syndromic cardiomyopathy v0.15 BAG3 Ivone Leong Source NHS GMS was added to BAG3.
Paediatric or syndromic cardiomyopathy v0.15 ARSB Ivone Leong Source NHS GMS was added to ARSB.
Paediatric or syndromic cardiomyopathy v0.15 ALPK3 Ivone Leong gene: ALPK3 was added
gene: ALPK3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ALPK3 was set to
Paediatric or syndromic cardiomyopathy v0.15 ALMS1 Ivone Leong Source Expert Review Green was added to ALMS1.
Source NHS GMS was added to ALMS1.
Rating Changed from No List (delete) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.15 AGL Ivone Leong Source NHS GMS was added to AGL.
Paediatric or syndromic cardiomyopathy v0.15 AGK Ivone Leong gene: AGK was added
gene: AGK was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AGK was set to
Paediatric or syndromic cardiomyopathy v0.15 ACTN2 Ivone Leong Source NHS GMS was added to ACTN2.
Paediatric or syndromic cardiomyopathy v0.15 ACTC1 Ivone Leong Source NHS GMS was added to ACTC1.
Paediatric or syndromic cardiomyopathy v0.15 ACTA1 Ivone Leong Source NHS GMS was added to ACTA1.
Paediatric or syndromic cardiomyopathy v0.15 ACADVL Ivone Leong Source NHS GMS was added to ACADVL.
Paediatric or syndromic cardiomyopathy v0.15 ABCC9 Ivone Leong Source NHS GMS was added to ABCC9.
Paediatric or syndromic cardiomyopathy v0.15 AARS2 Ivone Leong Source NHS GMS was added to AARS2.
Paediatric or syndromic cardiomyopathy v0.14 ISCA-37431-Loss Ivone Leong Classified Region: ISCA-37431-Loss as Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.14 ISCA-37431-Loss Ivone Leong Added comment: Comment on list classification: Submitted on behalf of the GMS Cardiology specialist group. Demoted from Amber to Red as the group has agreed that this gene should be Red on this panel.
Paediatric or syndromic cardiomyopathy v0.14 ISCA-37431-Loss Ivone Leong Region: isca-37431-loss has been classified as Red List (Low Evidence).
Vascular skin disorders v0.21 ALAS2 Catherine Snow Source Expert Review Green was added to ALAS2.
Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v0.18 PSEN1 Catherine Snow Source Expert Review Green was added to PSEN1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v0.18 NCSTN Catherine Snow Source Expert Review Green was added to NCSTN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v0.18 CARD11 Catherine Snow Source Expert Review Green was added to CARD11.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v0.18 MVD Catherine Snow Source Expert Review Green was added to MVD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v0.18 FDPS Catherine Snow Source Expert Review Green was added to FDPS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 GATA1 Catherine Snow Source Expert Review Green was added to GATA1.
Added phenotypes Congenital erythropoietic porphyria; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 for gene: GATA1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 UROS Catherine Snow Source Expert Review Green was added to UROS.
Added phenotypes Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis); Porphyria, congenital erythropoietic 263700 for gene: UROS
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 UROD Catherine Snow Source Expert Review Green was added to UROD.
Added phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) for gene: UROD
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 PPOX Catherine Snow Source Expert Review Green was added to PPOX.
Added phenotypes Porphyria variegata 176200; Variegate porphyria (Acute neuropathic porphyrias) for gene: PPOX
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 HMBS Catherine Snow Source Expert Review Green was added to HMBS.
Added phenotypes Porphyria, acute intermittent, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 FECH Catherine Snow Added phenotypes Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 for gene: FECH
Cutaneous photosensitivity with a likely genetic cause v0.11 CPOX Catherine Snow Source Expert Review Green was added to CPOX.
Added phenotypes Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) for gene: CPOX
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 ALAS2 Catherine Snow Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 for gene: ALAS2
Cutaneous photosensitivity with a likely genetic cause v0.11 ALAD Catherine Snow Source Expert Review Green was added to ALAD.
Added phenotypes {Lead poisoning, susceptibility to} 612740; Porphyria, acute hepatic 612740; Acute hepatic porphyria (Acute neuropathic porphyrias) for gene: ALAD
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 FECH Catherine Snow Source Expert Review Green was added to FECH.
Added phenotypes Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 for gene: FECH
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 ALAS2 Catherine Snow Source Expert Review Green was added to ALAS2.
Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 for gene: ALAS2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 XRCC2 Catherine Snow Source Expert Review Green was added to XRCC2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCM Catherine Snow Source Expert Review Green was added to FANCM.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 RAD51C Catherine Snow Source Expert Review Green was added to RAD51C.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 MAD2L2 Catherine Snow Source Expert Review Green was added to MAD2L2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 UBE2T Catherine Snow Source Expert Review Green was added to UBE2T.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCL Catherine Snow Source Expert Review Green was added to FANCL.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCI Catherine Snow Source Expert Review Green was added to FANCI.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCG Catherine Snow Source Expert Review Green was added to FANCG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCF Catherine Snow Source Expert Review Green was added to FANCF.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCE Catherine Snow Source Expert Review Green was added to FANCE.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCD2 Catherine Snow Source Expert Review Green was added to FANCD2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCC Catherine Snow Source Expert Review Green was added to FANCC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCB Catherine Snow Source Expert Review Green was added to FANCB.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCA Catherine Snow Source Expert Review Green was added to FANCA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 ERCC4 Catherine Snow Source Expert Review Green was added to ERCC4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 BRIP1 Catherine Snow Source Expert Review Green was added to BRIP1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 BRCA2 Catherine Snow Source Expert Review Green was added to BRCA2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 BRCA1 Catherine Snow Source Expert Review Green was added to BRCA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Vascular skin disorders v0.20 ALAS2 Catherine Snow reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.17 PSEN1 Catherine Snow reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.17 NCSTN Catherine Snow reviewed gene: NCSTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.17 CARD11 Catherine Snow reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.17 MVD Catherine Snow reviewed gene: MVD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.17 FDPS Catherine Snow reviewed gene: FDPS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 GATA1 Catherine Snow reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 UROS Catherine Snow reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 UROD Catherine Snow reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 PPOX Catherine Snow reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 HMBS Catherine Snow reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 FECH Catherine Snow commented on gene: FECH: Following discussion with the Genomics England clinical team it was agreed that genes associated with porphyrias should be included on this panel. Therefore added to panel as a Green gene.
Cutaneous photosensitivity with a likely genetic cause v0.10 CPOX Catherine Snow reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 ALAS2 Catherine Snow commented on gene: ALAS2: Following discussion with the Genomics England clinical team it was agreed that genes associated with porphyrias should be included on this panel. Therefore added to panel as a Green gene.
Cutaneous photosensitivity with a likely genetic cause v0.10 ALAD Catherine Snow reviewed gene: ALAD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 FECH Catherine Snow reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 ALAS2 Catherine Snow reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 XRCC2 Catherine Snow reviewed gene: XRCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCM Catherine Snow reviewed gene: FANCM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 RAD51C Catherine Snow reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 MAD2L2 Catherine Snow reviewed gene: MAD2L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 UBE2T Catherine Snow reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCL Catherine Snow reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCI Catherine Snow reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCG Catherine Snow reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCF Catherine Snow reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCE Catherine Snow reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCD2 Catherine Snow reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCC Catherine Snow reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCB Catherine Snow reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCA Catherine Snow reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 ERCC4 Catherine Snow reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 BRIP1 Catherine Snow reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 BRCA2 Catherine Snow reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 BRCA1 Catherine Snow reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.19 ALAS2 Catherine Snow gene: ALAS2 was added
gene: ALAS2 was added to Vascular skin disorders. Sources: Expert Review
Mode of inheritance for gene: ALAS2 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: ALAS2 were set to Protoporphyria, erythropoietic, X-linked, 300752
Rare genetic inflammatory skin disorders v0.16 PSEN1 Catherine Snow gene: PSEN1 was added
gene: PSEN1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.16 NCSTN Catherine Snow gene: NCSTN was added
gene: NCSTN was added to Rare genetic inflammatory skin disorders. Sources: Expert Review
Mode of inheritance for gene: NCSTN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.16 CARD11 Catherine Snow gene: CARD11 was added
gene: CARD11 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review
Mode of inheritance for gene: CARD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v0.16 MVD Catherine Snow gene: MVD was added
gene: MVD was added to Rare genetic inflammatory skin disorders. Sources: Expert Review
Mode of inheritance for gene: MVD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.16 FDPS Catherine Snow gene: FDPS was added
gene: FDPS was added to Rare genetic inflammatory skin disorders. Sources: Expert Review
Mode of inheritance for gene: FDPS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cutaneous photosensitivity with a likely genetic cause v0.9 GATA1 Catherine Snow gene: GATA1 was added
gene: GATA1 was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GATA1 were set to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria
Cutaneous photosensitivity with a likely genetic cause v0.9 UROS Catherine Snow gene: UROS was added
gene: UROS was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic 263700; Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis)
Cutaneous photosensitivity with a likely genetic cause v0.9 UROD Catherine Snow gene: UROD was added
gene: UROD was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: UROD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UROD were set to Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Cutaneous photosensitivity with a likely genetic cause v0.9 PPOX Catherine Snow gene: PPOX was added
gene: PPOX was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PPOX were set to Porphyria variegata 176200; Variegate porphyria (Acute neuropathic porphyrias)
Cutaneous photosensitivity with a likely genetic cause v0.9 HMBS Catherine Snow gene: HMBS was added
gene: HMBS was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HMBS were set to Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000
Cutaneous photosensitivity with a likely genetic cause v0.9 FECH Catherine Snow Added phenotypes Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 for gene: FECH
Cutaneous photosensitivity with a likely genetic cause v0.9 CPOX Catherine Snow gene: CPOX was added
gene: CPOX was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CPOX were set to Harderoporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias); Coproporphyria 121300
Cutaneous photosensitivity with a likely genetic cause v0.9 ALAS2 Catherine Snow Added phenotypes Anemia, sideroblastic, X-linked, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
Cutaneous photosensitivity with a likely genetic cause v0.9 ALAD Catherine Snow gene: ALAD was added
gene: ALAD was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALAD were set to Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias)
Cutaneous photosensitivity with a likely genetic cause v0.9 FECH Catherine Snow gene: FECH was added
gene: FECH was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FECH were set to Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000
Cutaneous photosensitivity with a likely genetic cause v0.9 ALAS2 Catherine Snow gene: ALAS2 was added
gene: ALAS2 was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: ALAS2 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: ALAS2 were set to Anemia, sideroblastic, X-linked, 300751; Protoporphyria, erythropoietic, X-linked, 300752
Pigmentary skin disorders v0.21 XRCC2 Catherine Snow gene: XRCC2 was added
gene: XRCC2 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCM Catherine Snow gene: FANCM was added
gene: FANCM was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 RAD51C Catherine Snow gene: RAD51C was added
gene: RAD51C was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 MAD2L2 Catherine Snow gene: MAD2L2 was added
gene: MAD2L2 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 UBE2T Catherine Snow gene: UBE2T was added
gene: UBE2T was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCL Catherine Snow gene: FANCL was added
gene: FANCL was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCI Catherine Snow gene: FANCI was added
gene: FANCI was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCG Catherine Snow gene: FANCG was added
gene: FANCG was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCF Catherine Snow gene: FANCF was added
gene: FANCF was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCE Catherine Snow gene: FANCE was added
gene: FANCE was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCD2 Catherine Snow gene: FANCD2 was added
gene: FANCD2 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCC Catherine Snow gene: FANCC was added
gene: FANCC was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCB Catherine Snow gene: FANCB was added
gene: FANCB was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pigmentary skin disorders v0.21 FANCA Catherine Snow gene: FANCA was added
gene: FANCA was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 ERCC4 Catherine Snow gene: ERCC4 was added
gene: ERCC4 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 BRIP1 Catherine Snow gene: BRIP1 was added
gene: BRIP1 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 BRCA2 Catherine Snow gene: BRCA2 was added
gene: BRCA2 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 BRCA1 Catherine Snow gene: BRCA1 was added
gene: BRCA1 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.197 FXR1 Louise Daugherty Classified gene: FXR1 as Amber List (moderate evidence)
Congenital myopathy v1.197 FXR1 Louise Daugherty Gene: fxr1 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.196 PYROXD1 Louise Daugherty Classified gene: PYROXD1 as Amber List (moderate evidence)
Congenital myopathy v1.196 PYROXD1 Louise Daugherty Gene: pyroxd1 has been classified as Amber List (Moderate Evidence).
Distal myopathies v1.15 ADSSL1 Louise Daugherty Classified gene: ADSSL1 as Amber List (moderate evidence)
Distal myopathies v1.15 ADSSL1 Louise Daugherty Gene: adssl1 has been classified as Amber List (Moderate Evidence).
Distal myopathies v1.14 ADSSL1 Louise Daugherty gene: ADSSL1 was added
gene: ADSSL1 was added to Distal myopathies. Sources: Expert Review
Mode of inheritance for gene: ADSSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADSSL1 were set to 26506222
Phenotypes for gene: ADSSL1 were set to Myopathy, distal, 5, 617030
Review for gene: ADSSL1 was set to AMBER
Added comment: New gene suggested by Anna Sarkozy for inclusion on the Distal myopathy panel
Sources: Expert Review
Congenital myopathy v1.195 FXR1 Louise Daugherty gene: FXR1 was added
gene: FXR1 was added to Congenital myopathy. Sources: Expert Review
Mode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FXR1 were set to 30770808
Phenotypes for gene: FXR1 were set to Congenital multi-minicore myopathy
Review for gene: FXR1 was set to AMBER
Added comment: New gene suggested by Anna Sarkozy for inclusion on the congenital myopathy panel
Sources: Expert Review
Renal tubulopathies v1.195 CLDN16 Eleanor Williams changed review comment from: Comment on list classification: Changing rating from red to amber. Many cases reported in OMIM.; to: Comment on list classification: Changing rating from red to green. Many cases reported in OMIM.
Arrhythmogenic right ventricular cardiomyopathy v1.55 ANK2 Ivone Leong reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Arrhythmogenic right ventricular cardiomyopathy v1.55 ANK2 Ivone Leong gene: ANK2 was added
gene: ANK2 was added to Arrhythmogenic cardiomyopathy. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic right ventricular cardiomyopathy v1.54 TTN Ivone Leong Phenotypes for gene: TTN were changed from to Cardiomyopathy, dilated, 1G, 604145
Arrhythmogenic right ventricular cardiomyopathy v1.53 TTN Ivone Leong Publications for gene: TTN were set to
Arrhythmogenic right ventricular cardiomyopathy v1.52 RBM20 Ivone Leong Phenotypes for gene: RBM20 were changed from to Cardiomyopathy, dilated, 1DD 613172
Arrhythmogenic right ventricular cardiomyopathy v1.51 RBM20 Ivone Leong Publications for gene: RBM20 were set to
Arrhythmogenic right ventricular cardiomyopathy v1.50 SCN5A Ivone Leong Publications for gene: SCN5A were set to 24317018; doi:10.​1007/​s12265-016-9673-5
Arrhythmogenic right ventricular cardiomyopathy v1.49 PLN Ivone Leong Publications for gene: PLN were set to 22820313; 28102477
Arrhythmogenic right ventricular cardiomyopathy v1.48 LMNA Ivone Leong Phenotypes for gene: LMNA were changed from to LMNA-related DCM
Arrhythmogenic right ventricular cardiomyopathy v1.47 FLNC Ivone Leong Phenotypes for gene: FLNC were changed from v to Arrhythmogenic cardiomyopathy; Cardiomyopathy, familial restrictive 5 (617047); Myopathy, distal, 4 (614065); Myopathy, myofibrillar, 5 (609524)
Arrhythmogenic right ventricular cardiomyopathy v1.46 DES Ivone Leong Publications for gene: DES were set to 29567486
Arrhythmogenic right ventricular cardiomyopathy v1.45 TTN Ivone Leong reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic right ventricular cardiomyopathy v1.45 SCN5A Ivone Leong reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic right ventricular cardiomyopathy v1.45 RYR2 Ivone Leong reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic right ventricular cardiomyopathy v1.45 RBM20 Ivone Leong reviewed gene: RBM20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic right ventricular cardiomyopathy v1.45 CDH2 Ivone Leong reviewed gene: CDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic right ventricular cardiomyopathy v1.45 TMEM43 Ivone Leong reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic right ventricular cardiomyopathy v1.45 PLN Ivone Leong reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic right ventricular cardiomyopathy v1.45 PKP2 Ivone Leong reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic right ventricular cardiomyopathy v1.45 LMNA Ivone Leong reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic right ventricular cardiomyopathy v1.45 JUP Ivone Leong reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic right ventricular cardiomyopathy v1.45 FLNC Ivone Leong reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic right ventricular cardiomyopathy v1.45 DSP Ivone Leong reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic right ventricular cardiomyopathy v1.45 DSG2 Ivone Leong reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic right ventricular cardiomyopathy v1.45 DSC2 Ivone Leong reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic right ventricular cardiomyopathy v1.45 DES Ivone Leong reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic right ventricular cardiomyopathy v1.44 RYR2 Ivone Leong Source Expert Review Amber was added to RYR2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Arrhythmogenic right ventricular cardiomyopathy v1.44 LMNA Ivone Leong Source Expert Review Green was added to LMNA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Congenital myopathy v1.193 PYROXD1 Louise Daugherty gene: PYROXD1 was added
gene: PYROXD1 was added to Congenital myopathy. Sources: Expert Review
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYROXD1 were set to 27745833; 31455395
Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258; myopathy
Review for gene: PYROXD1 was set to AMBER
Added comment: New gene suggested by Anna Sarkozy for inclusion on the congenital myopathy panel
Sources: Expert Review
Congenital myopathy v1.193 PYROXD1 Louise Daugherty gene: PYROXD1 was added
gene: PYROXD1 was added to Congenital myopathy. Sources: Expert Review
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYROXD1 were set to 27745833; 31455395
Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258; myopathy
Review for gene: PYROXD1 was set to AMBER
Added comment: New gene suggested by Anna Sarkozy for inclusion on the congenital myopathy panel
Sources: Expert Review
Multiple monogenic benign skin tumours v0.11 MSH6 Catherine Snow Classified gene: MSH6 as Amber List (moderate evidence)
Multiple monogenic benign skin tumours v0.11 MSH6 Catherine Snow Gene: msh6 has been classified as Amber List (Moderate Evidence).
Vascular skin disorders v0.18 ADAMTS13 Catherine Snow Classified gene: ADAMTS13 as Green List (high evidence)
Vascular skin disorders v0.18 ADAMTS13 Catherine Snow Added comment: Comment on list classification: Comment on list classification: Discussion with clinical team phenotype relevant for this panel, ADAMTS13 can be classified as Green.
Vascular skin disorders v0.18 ADAMTS13 Catherine Snow Gene: adamts13 has been classified as Green List (High Evidence).
Vascular skin disorders v0.17 FECH Catherine Snow Classified gene: FECH as Green List (high evidence)
Vascular skin disorders v0.17 FECH Catherine Snow Added comment: Comment on list classification: Comment on list classification: Discussion with clinical team phenotype relevant for this panel, FECH can be classified as Green.
Vascular skin disorders v0.17 FECH Catherine Snow Gene: fech has been classified as Green List (High Evidence).
Vascular skin disorders v0.16 CPOX Catherine Snow Classified gene: CPOX as Red List (low evidence)
Vascular skin disorders v0.16 CPOX Catherine Snow Added comment: Comment on list classification: Comment on list classification: Discussion with clinical team as no evidence for gene disease relationship, CPOX should be classified as Red.
Vascular skin disorders v0.16 CPOX Catherine Snow Gene: cpox has been classified as Red List (Low Evidence).
Vascular skin disorders v0.15 PPOX Catherine Snow Classified gene: PPOX as Red List (low evidence)
Vascular skin disorders v0.15 PPOX Catherine Snow Added comment: Comment on list classification: Discussion with clinical team as no evidence for gene disease relationship, PPOX should be classified as Red.
Vascular skin disorders v0.15 PPOX Catherine Snow Gene: ppox has been classified as Red List (Low Evidence).
Vascular skin disorders v0.14 CPO Catherine Snow Classified gene: CPO as Red List (low evidence)
Vascular skin disorders v0.14 CPO Catherine Snow Added comment: Comment on list classification: Discussion with clinical team as no evidence for gene disease relationship, CPO should be classified as Red.
Vascular skin disorders v0.14 CPO Catherine Snow Gene: cpo has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v1.90 NEXN Ivone Leong Classified gene: NEXN as Red List (low evidence)
Hypertrophic cardiomyopathy v1.90 NEXN Ivone Leong Gene: nexn has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v1.89 MYLK2 Ivone Leong Publications for gene: MYLK2 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.88 JPH2 Ivone Leong Phenotypes for gene: JPH2 were changed from Cardiomyopathy, familial hypertrophic 17, to Cardiomyopathy, familial hypertrophic 17 (613873)
Hypertrophic cardiomyopathy v1.87 CACNA1C Ivone Leong Phenotypes for gene: CACNA1C were changed from Hypertrophic cardiomyopathy; Long QT syndrome; Brugada syndrome to Hypertrophic cardiomyopathy; Brugada syndrome 3 611875; Long QT syndrome 8 618447; Timothy syndrome 601005
Hypertrophic cardiomyopathy v1.86 CACNA1C Ivone Leong Publications for gene: CACNA1C were set to 24183960; doi:10.​1007/​s12265-016-9673-5
Hypertrophic cardiomyopathy v1.85 ACTN2 Ivone Leong Phenotypes for gene: ACTN2 were changed from to Cardiomyopathy, dilated, 1AA, with or without LVNC 612158; Cardiomyopathy, hypertrophic, 23, with or without LVNC 612158
Hypertrophic cardiomyopathy v1.84 ACTN2 Ivone Leong Publications for gene: ACTN2 were set to 25224718; 25173926; 20022194
Hypertrophic cardiomyopathy v1.83 TTR Ivone Leong Phenotypes for gene: TTR were changed from Cardiac amyloidosis to Cardiac amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210
Hypertrophic cardiomyopathy v1.82 FLNC Ivone Leong Publications for gene: FLNC were set to 25351925; 28356264; 30411535
Hypertrophic cardiomyopathy v1.81 NEXN Ivone Leong reviewed gene: NEXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 MT-TI Ivone Leong reviewed gene: MT-TI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 CACNA1C Ivone Leong reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 LZTR1 Ivone Leong reviewed gene: LZTR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 VCL Ivone Leong reviewed gene: VCL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 TNNC1 Ivone Leong reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 MYLK2 Ivone Leong reviewed gene: MYLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 JPH2 Ivone Leong reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 FLNC Ivone Leong edited their review of gene: FLNC: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Hypertrophic cardiomyopathy v1.81 FHOD3 Ivone Leong reviewed gene: FHOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 CSRP3 Ivone Leong reviewed gene: CSRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 ACTN2 Ivone Leong reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 TTR Ivone Leong reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 TPM1 Ivone Leong reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 TNNT2 Ivone Leong reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 TNNI3 Ivone Leong edited their review of gene: TNNI3: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Hypertrophic cardiomyopathy v1.81 PRKAG2 Ivone Leong reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 PLN Ivone Leong reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 MYL3 Ivone Leong reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 MYL2 Ivone Leong reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 MYH7 Ivone Leong reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 MYBPC3 Ivone Leong edited their review of gene: MYBPC3: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Hypertrophic cardiomyopathy v1.81 LAMP2 Ivone Leong reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 GLA Ivone Leong edited their review of gene: GLA: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Hypertrophic cardiomyopathy v1.81 FHL1 Ivone Leong reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 ACTC1 Ivone Leong reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.80 CACNA1C Ivone Leong Classified gene: CACNA1C as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v1.80 CACNA1C Ivone Leong Gene: cacna1c has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.79 LZTR1 Ivone Leong Source Expert Review Red was added to LZTR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hypertrophic cardiomyopathy v1.79 FHOD3 Ivone Leong gene: FHOD3 was added
gene: FHOD3 was added to Hypertrophic cardiomyopathy - teen and adult. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FHOD3 were set to 23255317; 29907873; 31742804
Phenotypes for gene: FHOD3 were set to Hypertrophic cardiomyopathy
Congenital myaesthenic syndrome v1.75 SLC25A1 Louise Daugherty Classified gene: SLC25A1 as Green List (high evidence)
Congenital myaesthenic syndrome v1.75 SLC25A1 Louise Daugherty Added comment: Comment on list classification: Info from Tracy Lester: SLC25A1 – there is another case of CMS associated with this genes and a couple more reported in literature – can now be green on R80.
Congenital myaesthenic syndrome v1.75 SLC25A1 Louise Daugherty Gene: slc25a1 has been classified as Green List (High Evidence).
Congenital myaesthenic syndrome v1.74 TOR1AIP1 Louise Daugherty Classified gene: TOR1AIP1 as Amber List (moderate evidence)
Congenital myaesthenic syndrome v1.74 TOR1AIP1 Louise Daugherty Added comment: Comment on list classification: Info from Tracy Lester: TOR1AIP1 – should be amber on R80, not red, there is an unpublished case.
Congenital myaesthenic syndrome v1.74 TOR1AIP1 Louise Daugherty Gene: tor1aip1 has been classified as Amber List (Moderate Evidence).
Congenital myaesthenic syndrome v1.73 SYT15 Louise Daugherty Classified gene: SYT15 as Red List (low evidence)
Congenital myaesthenic syndrome v1.73 SYT15 Louise Daugherty Gene: syt15 has been classified as Red List (Low Evidence).
Congenital myaesthenic syndrome v1.72 SYT15 Louise Daugherty Classified gene: SYT15 as Amber List (moderate evidence)
Congenital myaesthenic syndrome v1.72 SYT15 Louise Daugherty Added comment: Comment on list classification: Info from Tracy Lester : SYT15 – should be red on R80, not amber. No in-house cases as yet.
Congenital myaesthenic syndrome v1.72 SYT15 Louise Daugherty Gene: syt15 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.1135 TMX2 Rebecca Foulger Classified gene: TMX2 as Green List (high evidence)
Intellectual disability v2.1135 TMX2 Rebecca Foulger Added comment: Comment on list classification: Promoted TMX2 from Amber to Green to match Green review by Ivone Leong and new evidence from Konstantinos Varvagiannis.
Intellectual disability v2.1135 TMX2 Rebecca Foulger Gene: tmx2 has been classified as Green List (High Evidence).
Progressive cardiac conduction disease v0.44 TRPM4 Ivone Leong Phenotypes for gene: TRPM4 were changed from PROGRESSIVE FAMILIAL HEART BLOCK, to Progressive familial heart block, type IB 604559
Progressive cardiac conduction disease v0.43 TRPM4 Ivone Leong Publications for gene: TRPM4 were set to 19726882; 20562447; 21887725
Fetal anomalies v0.371 BICD2 Rebecca Foulger Classified gene: BICD2 as Green List (high evidence)
Fetal anomalies v0.371 BICD2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green based on external review highlighting literature evidence of fetal phenotypes, and agreement from Lyn Chitty and Rhiannon Mellis (Great Ormond Street Hospital).
Fetal anomalies v0.371 BICD2 Rebecca Foulger Gene: bicd2 has been classified as Green List (High Evidence).
Progressive cardiac conduction disease v0.42 TBX5 Ivone Leong Phenotypes for gene: TBX5 were changed from to Holt-Oram syndrome 142900
Progressive cardiac conduction disease v0.41 TBX5 Ivone Leong Publications for gene: TBX5 were set to
Progressive cardiac conduction disease v0.40 SCN1B Ivone Leong Phenotypes for gene: SCN1B were changed from to Cardiac conduction defect, nonspecific 612838
Progressive cardiac conduction disease v0.39 SCN1B Ivone Leong Publications for gene: SCN1B were set to
Progressive cardiac conduction disease v0.38 NKX2-5 Ivone Leong Phenotypes for gene: NKX2-5 were changed from to Atrial septal defect 7, with or without AV conduction defects 108900
Progressive cardiac conduction disease v0.37 NKX2-5 Ivone Leong Publications for gene: NKX2-5 were set to
Progressive cardiac conduction disease v0.36 LAMP2 Ivone Leong Phenotypes for gene: LAMP2 were changed from to Danon disease, 300257
Progressive cardiac conduction disease v0.35 HCN4 Ivone Leong Phenotypes for gene: HCN4 were changed from to Brugada syndrome 8 613123; Sick sinus syndrome 2 163800
Progressive cardiac conduction disease v0.34 HCN4 Ivone Leong Publications for gene: HCN4 were set to
Progressive cardiac conduction disease v0.33 GLA Ivone Leong Phenotypes for gene: GLA were changed from to Fabry disease, cardiac variant, 301500
Progressive cardiac conduction disease v0.32 EMD Ivone Leong Phenotypes for gene: EMD were changed from to Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Progressive cardiac conduction disease v0.31 EMD Ivone Leong Publications for gene: EMD were set to
Progressive cardiac conduction disease v0.30 TTR Ivone Leong reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 TRPM4 Ivone Leong reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 TNNI3K Ivone Leong reviewed gene: TNNI3K: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 TBX5 Ivone Leong reviewed gene: TBX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 TBX3 Ivone Leong reviewed gene: TBX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 SCN5A Ivone Leong reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 SCN1B Ivone Leong reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 PRKAG2 Ivone Leong reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 NKX2-5 Ivone Leong reviewed gene: NKX2-5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 LMNA Ivone Leong reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 LAMP2 Ivone Leong reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 KCNK17 Ivone Leong reviewed gene: KCNK17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 HCN4 Ivone Leong reviewed gene: HCN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 GLA Ivone Leong reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 GJA5 Ivone Leong reviewed gene: GJA5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 FLNC Ivone Leong reviewed gene: FLNC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 EMD Ivone Leong reviewed gene: EMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 DES Ivone Leong reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 CLCA2 Ivone Leong reviewed gene: CLCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 ANK2 Ivone Leong reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 ACTN2 Ivone Leong reviewed gene: ACTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.29 FLNC Ivone Leong gene: FLNC was added
gene: FLNC was added to Progressive cardiac conduction disease. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.29 ACTN2 Ivone Leong gene: ACTN2 was added
gene: ACTN2 was added to Progressive cardiac conduction disease. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.29 CLCA2 Ivone Leong gene: CLCA2 was added
gene: CLCA2 was added to Progressive cardiac conduction disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CLCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.29 SCN1B Ivone Leong Source Expert Review Amber was added to SCN1B.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Progressive cardiac conduction disease v0.29 TTR Ivone Leong gene: TTR was added
gene: TTR was added to Progressive cardiac conduction disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.29 GLA Ivone Leong gene: GLA was added
gene: GLA was added to Progressive cardiac conduction disease. Sources: NHS GMS,Expert Review Amber
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)
Progressive cardiac conduction disease v0.29 LAMP2 Ivone Leong gene: LAMP2 was added
gene: LAMP2 was added to Progressive cardiac conduction disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Progressive cardiac conduction disease v0.29 DES Ivone Leong Source Expert Review Green was added to DES.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.29 PRKAG2 Ivone Leong Source Expert Review Green was added to PRKAG2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.29 LMNA Ivone Leong Source Expert Review Green was added to LMNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.29 SCN5A Ivone Leong Source Expert Review Green was added to SCN5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v2.1134 TMX2 Ivone Leong edited their review of gene: TMX2: Added comment: Based on the new evidence submitted from the expert reviewer, there is now enough evidence to promote this gene to Green status.; Changed rating: GREEN
Intellectual disability v2.1134 CNOT3 Konstantinos Varvagiannis reviewed gene: CNOT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28135719, 31201375, 24121232; Phenotypes: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM 618672; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Early onset or syndromic epilepsy v1.497 OXR1 Konstantinos Varvagiannis gene: OXR1 was added
gene: OXR1 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to https://doi.org/10.1016/j.ajhg.2019.11.002
Phenotypes for gene: OXR1 were set to Central hypotonia; Global developmental delay; Delayed speech and language development; Intellectual disability; Seizures; Abnormality of the cerebellum
Penetrance for gene: OXR1 were set to Complete
Review for gene: OXR1 was set to GREEN
Added comment: Wang et al (2019 - https://doi.org/10.1016/j.ajhg.2019.11.002 ) report on 5 individuals (from 3 families) with biallelic OXR1 LoF variants.

Common features included hypotonia (4/5), severe global DD (5/5) and speech delay (5/5), ID (5/5), epilepsy (5/5) with cerebellar dysplasia/atrophy (5/5) and in some scoliosis.

All were investigated by exome sequencing and were found to harbor biallelic loss-of-function variants (2 splice-site, a stopgain and a frameshift one) either in homozygosity (2 consanguineous families) or in compound heterozygosity. In all cases parental segregation studies were compatible and in one family, an unaffected sib shown to be carrier.

Althouhgh OXR1 has been shown to affect several processes (among others DNA lesions induced by oxidative stress in E.coli, neuronal maintenance, mitochondrial morphology and DNA maintenance, etc), its mechanism of action is still not well defined. There are 6 RefSeq transcripts, the longest (NM_018002.3) encoding 3 protein domains (LysM, GRAM, TLDc). The TLDc domain is encoded by all transcripts.

Identified variants affected (probably all - fig1D) transcripts expressed in the CNS, namely NM_018002.3, NM_001198532.1, NM_181354.4. The 3 transcripts not expressed in the CNS are NM_001198533.1, NM_001198534.1 and NM_001198535.1.

Western blot with 2 different antibodies which would bind upstream of the truncation site failed to detect presence of truncated proteins in 2 affected individuals from 2 families.

The Drosophila homolog of OXR is mustard (mtd). The authors provide evidence that loss of mtd is lethal. This was however rescued by expression of an 80kb fly BAC clone covering mtd, or the fly mtd-RH isoform cDNA, or a short human OXR1 cDNA containing only the TLDc domain or a human NCOA7 cDNA. The latter is another human mtd homolog which also contains the TLDc domain. As a result the TLDc domain compensated sufficiently for loss of mtd.

Flies that survived displayed bang sensitivity and climbing defects the former assay being suggestive of susceptibility to seizures and the latter of impaired neurological/muscular function.

The authors provided evidence that mtd is broadly expressed in the fly CNS. RNAi mediated mtd knockdown specific to neurons (elav/nSyb-GAL4 expression of mtd RNAi) led to lethal eclosion defects for RNAis targeting most (18)/all(23) mtd isoforms. Lifespan was increased upon expression of human OXR1 cDNA. Neuronal loss and vacuolization was demonstrated and additional experiments in R7 photoreceptors showed presence of aberrant lysosomal structures (autolysosomes, autophagosomes and/or endolysosomes).

Aberrant lysosomal structures were also observed in fibroblasts from affected individuals (accumulation of lysosomes and/or presence of highly aberrant compartments with content typical of lysosomal dysfunction).

Overall the data presented suggest a critical role for OXR1 in lysosomal biology.

Although previous reports suggested that OXR1 is involved in oxidative stress resistance, studies performed by the authors suggested that oxidative stress is probably not the driver of the mutant fly defects.
Sources: Literature
Intellectual disability v2.1134 OXR1 Konstantinos Varvagiannis gene: OXR1 was added
gene: OXR1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to https://doi.org/10.1016/j.ajhg.2019.11.002
Phenotypes for gene: OXR1 were set to Central hypotonia; Global developmental delay; Delayed speech and language development; Intellectual disability; Seizures; Abnormality of the cerebellum
Penetrance for gene: OXR1 were set to Complete
Review for gene: OXR1 was set to GREEN
Added comment: Wang et al (2019 - https://doi.org/10.1016/j.ajhg.2019.11.002 ) report on 5 individuals (from 3 families) with biallelic OXR1 LoF variants.

Common features included hypotonia (4/5), severe global DD (5/5) and speech delay (5/5), ID (5/5), epilepsy (5/5) with cerebellar dysplasia/atrophy (5/5) and in some scoliosis.

All were investigated by exome sequencing and were found to harbor biallelic loss-of-function variants (2 splice-site, a stopgain and a frameshift one) either in homozygosity (2 consanguineous families) or in compound heterozygosity. In all cases parental segregation studies were compatible and in one family, an unaffected sib shown to be carrier.

Althouhgh OXR1 has been shown to affect several processes (among others DNA lesions induced by oxidative stress in E.coli, neuronal maintenance, mitochondrial morphology and DNA maintenance, etc), its mechanism of action is still not well defined. There are 6 RefSeq transcripts, the longest (NM_018002.3) encoding 3 protein domains (LysM, GRAM, TLDc). The TLDc domain is encoded by all transcripts.

Identified variants affected (probably all - fig1D) transcripts expressed in the CNS, namely NM_018002.3, NM_001198532.1, NM_181354.4. The 3 transcripts not expressed in the CNS are NM_001198533.1, NM_001198534.1 and NM_001198535.1.

Western blot with 2 different antibodies which would bind upstream of the truncation site failed to detect presence of truncated proteins in 2 affected individuals from 2 families.

The Drosophila homolog of OXR is mustard (mtd). The authors provide evidence that loss of mtd is lethal. This was however rescued by expression of an 80kb fly BAC clone covering mtd, or the fly mtd-RH isoform cDNA, or a short human OXR1 cDNA containing only the TLDc domain or a human NCOA7 cDNA. The latter is another human mtd homolog which also contains the TLDc domain. As a result the TLDc domain compensated sufficiently for loss of mtd.

Flies that survived displayed bang sensitivity and climbing defects the former assay being suggestive of susceptibility to seizures and the latter of impaired neurological/muscular function.

The authors provided evidence that mtd is broadly expressed in the fly CNS. RNAi mediated mtd knockdown specific to neurons (elav/nSyb-GAL4 expression of mtd RNAi) led to lethal eclosion defects for RNAis targeting most (18)/all(23) mtd isoforms. Lifespan was increased upon expression of human OXR1 cDNA. Neuronal loss and vacuolization was demonstrated and additional experiments in R7 photoreceptors showed presence of aberrant lysosomal structures (autolysosomes, autophagosomes and/or endolysosomes).

Aberrant lysosomal structures were also observed in fibroblasts from affected individuals (accumulation of lysosomes and/or presence of highly aberrant compartments with content typical of lysosomal dysfunction).

Overall the data presented suggest a critical role for OXR1 in lysosomal biology.

Although previous reports suggested that OXR1 is involved in oxidative stress resistance, studies performed by the authors suggested that oxidative stress is probably not the driver of the mutant fly defects.
Sources: Literature
Cerebral vascular malformations v1.68 TGFBR2 Louise Daugherty Source Expert Review Red was added to TGFBR2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 TGFBR1 Louise Daugherty Source Expert Review Red was added to TGFBR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 TGFB2 Louise Daugherty Source Expert Review Red was added to TGFB2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 SMAD3 Louise Daugherty Source Expert Review Red was added to SMAD3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 NOTCH3 Louise Daugherty Source Expert Review Red was added to NOTCH3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 JAG1 Louise Daugherty Source Expert Review Red was added to JAG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 ELN Louise Daugherty Source Expert Review Red was added to ELN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 THSD1 Louise Daugherty Source Expert Review Amber was added to THSD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 PKD2 Louise Daugherty Source Expert Review Amber was added to PKD2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 PKD1 Louise Daugherty Source Expert Review Amber was added to PKD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 PCNT Louise Daugherty Source Expert Review Amber was added to PCNT.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 HBB Louise Daugherty Source Expert Review Amber was added to HBB.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 FLVCR2 Louise Daugherty Source Expert Review Amber was added to FLVCR2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 CEP152 Louise Daugherty Source Expert Review Amber was added to CEP152.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 ATR Louise Daugherty Source Expert Review Amber was added to ATR.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 ADA2 Louise Daugherty Source Expert Review Amber was added to ADA2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 NF1 Louise Daugherty Source Expert Review Amber was added to NF1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 RNF213 Louise Daugherty Source Expert Review Green was added to RNF213.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cerebral vascular malformations v1.67 TGFBR2 Louise Daugherty reviewed gene: TGFBR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 TGFBR1 Louise Daugherty reviewed gene: TGFBR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 TGFB2 Louise Daugherty reviewed gene: TGFB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 SMAD3 Louise Daugherty reviewed gene: SMAD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 NOTCH3 Louise Daugherty reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 JAG1 Louise Daugherty reviewed gene: JAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 ELN Louise Daugherty reviewed gene: ELN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 GDF2 Louise Daugherty reviewed gene: GDF2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 THSD1 Louise Daugherty reviewed gene: THSD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 PKD2 Louise Daugherty reviewed gene: PKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 PKD1 Louise Daugherty edited their review of gene: PKD1: Added comment: Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - amber in view of vascular malformations seen not aligning with the intended clinical scope of this panel; Changed rating: AMBER
Cerebral vascular malformations v1.67 PCNT Louise Daugherty reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 HBB Louise Daugherty reviewed gene: HBB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 FLVCR2 Louise Daugherty reviewed gene: FLVCR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 CEP152 Louise Daugherty reviewed gene: CEP152: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 ATR Louise Daugherty reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 ADA2 Louise Daugherty edited their review of gene: ADA2: Changed rating: AMBER
Cerebral vascular malformations v1.67 NF1 Louise Daugherty reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 COL3A1 Louise Daugherty reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 RNF213 Louise Daugherty reviewed gene: RNF213: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 SMAD4 Louise Daugherty reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 SLC2A10 Louise Daugherty reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 SAMHD1 Louise Daugherty reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 RASA1 Louise Daugherty reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 PDCD10 Louise Daugherty reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 KRIT1 Louise Daugherty reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 GUCY1A3 Louise Daugherty edited their review of gene: GUCY1A3: Added comment: Combined reviews with Ian Berry (YNELGH), Vijeya Ganesan (Clinical expert - GOSH / ICH) & GEL clinical team (Richard Scott / Helen Brittain): relevant phenotype and sufficient evidence for a green rating; Changed rating: GREEN
Cerebral vascular malformations v1.67 ENG Louise Daugherty reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 CCM2 Louise Daugherty reviewed gene: CCM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 ACVRL1 Louise Daugherty reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 ACTA2 Louise Daugherty reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 MYH11 Louise Daugherty changed review comment from: New gene rated Amber - deemed relevant to the GMS panel R336 Cerebral vascular malformations; to: New gene - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.67 CBL Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Amber - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations. This was gene was recommended to be rated as Green but after further clinical expert it was decided to rate as Amber until there was sufficient evidence; to: Comment on list classification: Changed rating from Red to Amber - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations.
This was gene was recommended to be rated as Green but after further clinical expert it was decided to rate as Amber until there was sufficient evidence.
Cerebral vascular malformations v1.67 CBL Louise Daugherty changed review comment from: New gene rated Amber - deemed relevant to the GMS panel R336 Cerebral vascular malformations; to: New gene - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.67 CBL Louise Daugherty edited their review of gene: CBL: Changed rating: GREEN
Cerebral vascular malformations v1.67 MYH11 Louise Daugherty changed review comment from: Comment on list classification: Changed rating to Amber - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations. This was a new gene recommended to be rated as Green but after further clinical expert it was decided to rate as Amber until there was sufficient evidence ; to: Comment on list classification: Changed rating to Amber - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations.
This was a new gene recommended to be rated as Green but after further clinical expert it was decided to rate as Amber until there was sufficient evidence
Cerebral vascular malformations v1.67 MYH11 Louise Daugherty edited their review of gene: MYH11: Changed rating: GREEN
Cerebral vascular malformations v1.67 WDR62 Louise Daugherty Source Yorkshire and North East GLH was added to WDR62.
Cerebral vascular malformations v1.67 VLDLR Louise Daugherty Source Yorkshire and North East GLH was added to VLDLR.
Cerebral vascular malformations v1.67 TUBG1 Louise Daugherty Source Yorkshire and North East GLH was added to TUBG1.
Cerebral vascular malformations v1.67 TUBB3 Louise Daugherty Source Yorkshire and North East GLH was added to TUBB3.
Cerebral vascular malformations v1.67 TUBB2B Louise Daugherty Source Yorkshire and North East GLH was added to TUBB2B.
Cerebral vascular malformations v1.67 TUBB2A Louise Daugherty Source Yorkshire and North East GLH was added to TUBB2A.
Cerebral vascular malformations v1.67 TUBB Louise Daugherty Source Yorkshire and North East GLH was added to TUBB.
Cerebral vascular malformations v1.67 TUBA8 Louise Daugherty Source Yorkshire and North East GLH was added to TUBA8.
Cerebral vascular malformations v1.67 TUBA1A Louise Daugherty Source Yorkshire and North East GLH was added to TUBA1A.
Cerebral vascular malformations v1.67 TRAIP Louise Daugherty Source Yorkshire and North East GLH was added to TRAIP.
Cerebral vascular malformations v1.67 TMEM5 Louise Daugherty Source Yorkshire and North East GLH was added to TMEM5.
Cerebral vascular malformations v1.67 TEK Louise Daugherty Source Yorkshire and North East GLH was added to TEK.
Cerebral vascular malformations v1.67 STAMBP Louise Daugherty Source Yorkshire and North East GLH was added to STAMBP.
Cerebral vascular malformations v1.67 SRPX2 Louise Daugherty Source Yorkshire and North East GLH was added to SRPX2.
Cerebral vascular malformations v1.67 SMARCAL1 Louise Daugherty Source Yorkshire and North East GLH was added to SMARCAL1.
Cerebral vascular malformations v1.67 RTTN Louise Daugherty Source Yorkshire and North East GLH was added to RTTN.
Cerebral vascular malformations v1.67 RNF213 Louise Daugherty Source Yorkshire and North East GLH was added to RNF213.
Cerebral vascular malformations v1.67 RELN Louise Daugherty Source Yorkshire and North East GLH was added to RELN.
Cerebral vascular malformations v1.67 RBBP8 Louise Daugherty Source Yorkshire and North East GLH was added to RBBP8.
Cerebral vascular malformations v1.67 PTEN Louise Daugherty Source Yorkshire and North East GLH was added to PTEN.
Cerebral vascular malformations v1.67 POMT2 Louise Daugherty Source Yorkshire and North East GLH was added to POMT2.
Cerebral vascular malformations v1.67 POMT1 Louise Daugherty Source Yorkshire and North East GLH was added to POMT1.
Cerebral vascular malformations v1.67 POMGNT1 Louise Daugherty Source Yorkshire and North East GLH was added to POMGNT1.
Cerebral vascular malformations v1.67 PIK3R2 Louise Daugherty Source Yorkshire and North East GLH was added to PIK3R2.
Cerebral vascular malformations v1.67 PIK3CA Louise Daugherty Source Yorkshire and North East GLH was added to PIK3CA.
Cerebral vascular malformations v1.67 PAFAH1B1 Louise Daugherty Source Yorkshire and North East GLH was added to PAFAH1B1.
Cerebral vascular malformations v1.67 OPHN1 Louise Daugherty Source Yorkshire and North East GLH was added to OPHN1.
Cerebral vascular malformations v1.67 OCLN Louise Daugherty Source Yorkshire and North East GLH was added to OCLN.
Cerebral vascular malformations v1.67 NIN Louise Daugherty Source Yorkshire and North East GLH was added to NIN.
Cerebral vascular malformations v1.67 NDE1 Louise Daugherty Source Yorkshire and North East GLH was added to NDE1.
Cerebral vascular malformations v1.67 MEF2C Louise Daugherty Source Yorkshire and North East GLH was added to MEF2C.
Cerebral vascular malformations v1.67 LARGE1 Louise Daugherty Source Yorkshire and North East GLH was added to LARGE1.
Cerebral vascular malformations v1.67 LAMC3 Louise Daugherty Source Yorkshire and North East GLH was added to LAMC3.
Cerebral vascular malformations v1.67 LAMB1 Louise Daugherty Source Yorkshire and North East GLH was added to LAMB1.
Cerebral vascular malformations v1.67 KDR Louise Daugherty Source Yorkshire and North East GLH was added to KDR.
Cerebral vascular malformations v1.67 IL6 Louise Daugherty Source Yorkshire and North East GLH was added to IL6.
Cerebral vascular malformations v1.67 HTRA1 Louise Daugherty Source Yorkshire and North East GLH was added to HTRA1.
Cerebral vascular malformations v1.67 HLA-DRB1 Louise Daugherty Source Yorkshire and North East GLH was added to HLA-DRB1.
Cerebral vascular malformations v1.67 HLA-DQB1 Louise Daugherty Source Yorkshire and North East GLH was added to HLA-DQB1.
Cerebral vascular malformations v1.67 HLA-B Louise Daugherty Source Yorkshire and North East GLH was added to HLA-B.
Cerebral vascular malformations v1.67 GNAQ Louise Daugherty Source Yorkshire and North East GLH was added to GNAQ.
Cerebral vascular malformations v1.67 GLMN Louise Daugherty Source Yorkshire and North East GLH was added to GLMN.
Cerebral vascular malformations v1.67 GLA Louise Daugherty Source Yorkshire and North East GLH was added to GLA.
Cerebral vascular malformations v1.67 FOXF1 Louise Daugherty Source Yorkshire and North East GLH was added to FOXF1.
Cerebral vascular malformations v1.67 FLT4 Louise Daugherty Source Yorkshire and North East GLH was added to FLT4.
Cerebral vascular malformations v1.67 FBN1 Louise Daugherty Source Yorkshire and North East GLH was added to FBN1.
Cerebral vascular malformations v1.67 DNA2 Louise Daugherty Source Yorkshire and North East GLH was added to DNA2.
Cerebral vascular malformations v1.67 DCX Louise Daugherty Source Yorkshire and North East GLH was added to DCX.
Cerebral vascular malformations v1.67 CTSA Louise Daugherty Source Yorkshire and North East GLH was added to CTSA.
Cerebral vascular malformations v1.67 CRB1 Louise Daugherty Source Yorkshire and North East GLH was added to CRB1.
Cerebral vascular malformations v1.67 COL4A2 Louise Daugherty Source Yorkshire and North East GLH was added to COL4A2.
Cerebral vascular malformations v1.67 COL4A1 Louise Daugherty Source Yorkshire and North East GLH was added to COL4A1.
Cerebral vascular malformations v1.67 CEP63 Louise Daugherty Source Yorkshire and North East GLH was added to CEP63.
Cerebral vascular malformations v1.67 CENPJ Louise Daugherty Source Yorkshire and North East GLH was added to CENPJ.
Cerebral vascular malformations v1.67 BRCC3 Louise Daugherty Source Yorkshire and North East GLH was added to BRCC3.
Cerebral vascular malformations v1.67 ATP7A Louise Daugherty Source Yorkshire and North East GLH was added to ATP7A.
Cerebral vascular malformations v1.67 ARX Louise Daugherty Source Yorkshire and North East GLH was added to ARX.
Cerebral vascular malformations v1.67 ANTXR1 Louise Daugherty Source Yorkshire and North East GLH was added to ANTXR1.
Cerebral vascular malformations v1.67 ADGRG1 Louise Daugherty Source Yorkshire and North East GLH was added to ADGRG1.
Cerebral vascular malformations v1.67 ACE Louise Daugherty Source Yorkshire and North East GLH was added to ACE.
Cerebral vascular malformations v1.67 ABCC6 Louise Daugherty Source Yorkshire and North East GLH was added to ABCC6.
Cerebral vascular malformations v1.67 SMAD9 Louise Daugherty Source Yorkshire and North East GLH was added to SMAD9.
Cerebral vascular malformations v1.67 MRVI1 Louise Daugherty Source Yorkshire and North East GLH was added to MRVI1.
Cerebral vascular malformations v1.67 GDF2 Louise Daugherty Source Yorkshire and North East GLH was added to GDF2.
Cerebral vascular malformations v1.67 EPHB4 Louise Daugherty Source Yorkshire and North East GLH was added to EPHB4.
Cerebral vascular malformations v1.67 YY1AP1 Louise Daugherty Source Yorkshire and North East GLH was added to YY1AP1.
Cerebral vascular malformations v1.67 THSD1 Louise Daugherty Source Yorkshire and North East GLH was added to THSD1.
Cerebral vascular malformations v1.67 TGFBR2 Louise Daugherty Source Yorkshire and North East GLH was added to TGFBR2.
Cerebral vascular malformations v1.67 TGFBR1 Louise Daugherty Source Yorkshire and North East GLH was added to TGFBR1.
Cerebral vascular malformations v1.67 TGFB2 Louise Daugherty Source Yorkshire and North East GLH was added to TGFB2.
Cerebral vascular malformations v1.67 SMAD4 Louise Daugherty Source Yorkshire and North East GLH was added to SMAD4.
Cerebral vascular malformations v1.67 SMAD3 Louise Daugherty Source Yorkshire and North East GLH was added to SMAD3.
Cerebral vascular malformations v1.67 SLC2A10 Louise Daugherty Source Yorkshire and North East GLH was added to SLC2A10.
Cerebral vascular malformations v1.67 SAMHD1 Louise Daugherty Source Yorkshire and North East GLH was added to SAMHD1.
Cerebral vascular malformations v1.67 RASA1 Louise Daugherty Source Yorkshire and North East GLH was added to RASA1.
Cerebral vascular malformations v1.67 PKD2 Louise Daugherty Source Yorkshire and North East GLH was added to PKD2.
Cerebral vascular malformations v1.67 PKD1 Louise Daugherty Source Yorkshire and North East GLH was added to PKD1.
Cerebral vascular malformations v1.67 PDCD10 Louise Daugherty Source Yorkshire and North East GLH was added to PDCD10.
Cerebral vascular malformations v1.67 PCNT Louise Daugherty Source Yorkshire and North East GLH was added to PCNT.
Cerebral vascular malformations v1.67 NOTCH3 Louise Daugherty Source Yorkshire and North East GLH was added to NOTCH3.
Cerebral vascular malformations v1.67 NF1 Louise Daugherty Source Yorkshire and North East GLH was added to NF1.
Cerebral vascular malformations v1.67 MYH11 Louise Daugherty Source Yorkshire and North East GLH was added to MYH11.
Cerebral vascular malformations v1.67 KRIT1 Louise Daugherty Source Yorkshire and North East GLH was added to KRIT1.
Cerebral vascular malformations v1.67 JAG1 Louise Daugherty Source Yorkshire and North East GLH was added to JAG1.
Cerebral vascular malformations v1.67 HBB Louise Daugherty Source Yorkshire and North East GLH was added to HBB.
Cerebral vascular malformations v1.67 GUCY1A3 Louise Daugherty Source Yorkshire and North East GLH was added to GUCY1A3.
Cerebral vascular malformations v1.67 FLVCR2 Louise Daugherty Source Yorkshire and North East GLH was added to FLVCR2.
Cerebral vascular malformations v1.67 ENG Louise Daugherty Source Yorkshire and North East GLH was added to ENG.
Cerebral vascular malformations v1.67 ELN Louise Daugherty Source Yorkshire and North East GLH was added to ELN.
Cerebral vascular malformations v1.67 COL3A1 Louise Daugherty Source Yorkshire and North East GLH was added to COL3A1.
Cerebral vascular malformations v1.67 CEP152 Louise Daugherty Source Yorkshire and North East GLH was added to CEP152.
Cerebral vascular malformations v1.67 CCM2 Louise Daugherty Source Yorkshire and North East GLH was added to CCM2.
Cerebral vascular malformations v1.67 CBL Louise Daugherty Source Yorkshire and North East GLH was added to CBL.
Cerebral vascular malformations v1.67 ATR Louise Daugherty Source Yorkshire and North East GLH was added to ATR.
Cerebral vascular malformations v1.67 ADA2 Louise Daugherty Source Yorkshire and North East GLH was added to ADA2.
Cerebral vascular malformations v1.67 ACVRL1 Louise Daugherty Source Yorkshire and North East GLH was added to ACVRL1.
Cerebral vascular malformations v1.67 ACTA2 Louise Daugherty Source Yorkshire and North East GLH was added to ACTA2.
Cerebral vascular malformations v1.66 CBL Louise Daugherty Classified gene: CBL as Amber List (moderate evidence)
Cerebral vascular malformations v1.66 CBL Louise Daugherty Gene: cbl has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v1.65 CBL Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Green - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations; to: Comment on list classification: Changed rating from Red to Amber - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations. This was gene was recommended to be rated as Green but after further clinical expert it was decided to rate as Amber until there was sufficient evidence
Cerebral vascular malformations v1.65 CBL Louise Daugherty edited their review of gene: CBL: Changed rating: AMBER
Cerebral vascular malformations v1.65 CBL Louise Daugherty changed review comment from: New gene rated Green - deemed relevant to the GMS panel R336 Cerebral vascular malformations; to: New gene rated Amber - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.65 WDR62 Louise Daugherty Source NHS GMS was added to WDR62.
Cerebral vascular malformations v1.65 VLDLR Louise Daugherty Source NHS GMS was added to VLDLR.
Cerebral vascular malformations v1.65 TUBG1 Louise Daugherty Source NHS GMS was added to TUBG1.
Cerebral vascular malformations v1.65 TUBB3 Louise Daugherty Source NHS GMS was added to TUBB3.
Cerebral vascular malformations v1.65 TUBB2B Louise Daugherty Source NHS GMS was added to TUBB2B.
Cerebral vascular malformations v1.65 TUBB2A Louise Daugherty Source NHS GMS was added to TUBB2A.
Cerebral vascular malformations v1.65 TUBB Louise Daugherty Source NHS GMS was added to TUBB.
Cerebral vascular malformations v1.65 TUBA8 Louise Daugherty Source NHS GMS was added to TUBA8.
Cerebral vascular malformations v1.65 TUBA1A Louise Daugherty Source NHS GMS was added to TUBA1A.
Cerebral vascular malformations v1.65 TRAIP Louise Daugherty Source NHS GMS was added to TRAIP.
Cerebral vascular malformations v1.65 TMEM5 Louise Daugherty Source NHS GMS was added to TMEM5.
Cerebral vascular malformations v1.65 TEK Louise Daugherty Source NHS GMS was added to TEK.
Cerebral vascular malformations v1.65 STAMBP Louise Daugherty Source NHS GMS was added to STAMBP.
Cerebral vascular malformations v1.65 SRPX2 Louise Daugherty Source NHS GMS was added to SRPX2.
Cerebral vascular malformations v1.65 SMARCAL1 Louise Daugherty Source NHS GMS was added to SMARCAL1.
Cerebral vascular malformations v1.65 RTTN Louise Daugherty Source NHS GMS was added to RTTN.
Cerebral vascular malformations v1.65 RNF213 Louise Daugherty Source NHS GMS was added to RNF213.
Cerebral vascular malformations v1.65 RELN Louise Daugherty Source NHS GMS was added to RELN.
Cerebral vascular malformations v1.65 RBBP8 Louise Daugherty Source NHS GMS was added to RBBP8.
Cerebral vascular malformations v1.65 PTEN Louise Daugherty Source NHS GMS was added to PTEN.
Cerebral vascular malformations v1.65 POMT2 Louise Daugherty Source NHS GMS was added to POMT2.
Cerebral vascular malformations v1.65 POMT1 Louise Daugherty Source NHS GMS was added to POMT1.
Cerebral vascular malformations v1.65 POMGNT1 Louise Daugherty Source NHS GMS was added to POMGNT1.
Cerebral vascular malformations v1.65 PIK3R2 Louise Daugherty Source NHS GMS was added to PIK3R2.
Cerebral vascular malformations v1.65 PIK3CA Louise Daugherty Source NHS GMS was added to PIK3CA.
Cerebral vascular malformations v1.65 PAFAH1B1 Louise Daugherty Source NHS GMS was added to PAFAH1B1.
Cerebral vascular malformations v1.65 OPHN1 Louise Daugherty Source NHS GMS was added to OPHN1.
Cerebral vascular malformations v1.65 OCLN Louise Daugherty Source NHS GMS was added to OCLN.
Cerebral vascular malformations v1.65 NIN Louise Daugherty Source NHS GMS was added to NIN.
Cerebral vascular malformations v1.65 NDE1 Louise Daugherty Source NHS GMS was added to NDE1.
Cerebral vascular malformations v1.65 MEF2C Louise Daugherty Source NHS GMS was added to MEF2C.
Cerebral vascular malformations v1.65 LARGE1 Louise Daugherty Source NHS GMS was added to LARGE1.
Cerebral vascular malformations v1.65 LAMC3 Louise Daugherty Source NHS GMS was added to LAMC3.
Cerebral vascular malformations v1.65 LAMB1 Louise Daugherty Source NHS GMS was added to LAMB1.
Cerebral vascular malformations v1.65 KDR Louise Daugherty Source NHS GMS was added to KDR.
Cerebral vascular malformations v1.65 IL6 Louise Daugherty Source NHS GMS was added to IL6.
Cerebral vascular malformations v1.65 HTRA1 Louise Daugherty Source NHS GMS was added to HTRA1.
Cerebral vascular malformations v1.65 HLA-DRB1 Louise Daugherty Source NHS GMS was added to HLA-DRB1.
Cerebral vascular malformations v1.65 HLA-DQB1 Louise Daugherty Source NHS GMS was added to HLA-DQB1.
Cerebral vascular malformations v1.65 HLA-B Louise Daugherty Source NHS GMS was added to HLA-B.
Cerebral vascular malformations v1.65 GNAQ Louise Daugherty Source NHS GMS was added to GNAQ.
Cerebral vascular malformations v1.65 GLMN Louise Daugherty Source NHS GMS was added to GLMN.
Cerebral vascular malformations v1.65 GLA Louise Daugherty Source NHS GMS was added to GLA.
Cerebral vascular malformations v1.65 FOXF1 Louise Daugherty Source NHS GMS was added to FOXF1.
Cerebral vascular malformations v1.65 FLT4 Louise Daugherty Source NHS GMS was added to FLT4.
Cerebral vascular malformations v1.65 FBN1 Louise Daugherty Source NHS GMS was added to FBN1.
Cerebral vascular malformations v1.65 DNA2 Louise Daugherty Source NHS GMS was added to DNA2.
Cerebral vascular malformations v1.65 DCX Louise Daugherty Source NHS GMS was added to DCX.
Cerebral vascular malformations v1.65 CTSA Louise Daugherty Source NHS GMS was added to CTSA.
Cerebral vascular malformations v1.65 CRB1 Louise Daugherty Source NHS GMS was added to CRB1.
Cerebral vascular malformations v1.65 COL4A2 Louise Daugherty Source NHS GMS was added to COL4A2.
Cerebral vascular malformations v1.65 COL4A1 Louise Daugherty Source NHS GMS was added to COL4A1.
Cerebral vascular malformations v1.65 CEP63 Louise Daugherty Source NHS GMS was added to CEP63.
Cerebral vascular malformations v1.65 CENPJ Louise Daugherty Source NHS GMS was added to CENPJ.
Cerebral vascular malformations v1.65 BRCC3 Louise Daugherty Source NHS GMS was added to BRCC3.
Cerebral vascular malformations v1.65 ATP7A Louise Daugherty Source NHS GMS was added to ATP7A.
Cerebral vascular malformations v1.65 ARX Louise Daugherty Source NHS GMS was added to ARX.
Cerebral vascular malformations v1.65 ANTXR1 Louise Daugherty Source NHS GMS was added to ANTXR1.
Cerebral vascular malformations v1.65 ADGRG1 Louise Daugherty Source NHS GMS was added to ADGRG1.
Cerebral vascular malformations v1.65 ACE Louise Daugherty Source NHS GMS was added to ACE.
Cerebral vascular malformations v1.65 ABCC6 Louise Daugherty Source NHS GMS was added to ABCC6.
Cerebral vascular malformations v1.65 SMAD9 Louise Daugherty Source NHS GMS was added to SMAD9.
Cerebral vascular malformations v1.65 MRVI1 Louise Daugherty Source NHS GMS was added to MRVI1.
Cerebral vascular malformations v1.65 GDF2 Louise Daugherty Source NHS GMS was added to GDF2.
Cerebral vascular malformations v1.65 EPHB4 Louise Daugherty Source NHS GMS was added to EPHB4.
Cerebral vascular malformations v1.65 YY1AP1 Louise Daugherty Source NHS GMS was added to YY1AP1.
Cerebral vascular malformations v1.65 THSD1 Louise Daugherty Source NHS GMS was added to THSD1.
Cerebral vascular malformations v1.65 TGFBR2 Louise Daugherty Source NHS GMS was added to TGFBR2.
Cerebral vascular malformations v1.65 TGFBR1 Louise Daugherty Source NHS GMS was added to TGFBR1.
Cerebral vascular malformations v1.65 TGFB2 Louise Daugherty Source NHS GMS was added to TGFB2.
Cerebral vascular malformations v1.65 SMAD4 Louise Daugherty Source NHS GMS was added to SMAD4.
Cerebral vascular malformations v1.65 SMAD3 Louise Daugherty Source NHS GMS was added to SMAD3.