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Adult onset movement disorder v1.0 Louise Daugherty promoted panel to version 1.0
Adult onset movement disorder v0.131 Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
Adult onset movement disorder v0.130 PDE2A Louise Daugherty changed review comment from: PMID: 29392776 Only identified in one family with infantile onset chorea predominant movement disorder, not enough evidence to rate Green unless additional evidence from labs.; to: PMID: 29392776 Only identified in one family with infantile onset chorea predominant movement disorder, not enough evidence to rate Green unless additional evidence from labs. it is currently not associated with any phenotypes in OMIM or G2P
Adult onset movement disorder v0.130 PDE2A Louise Daugherty commented on gene: PDE2A: PMID: 29392776 Only identified in one family with infantile onset chorea predominant movement disorder, not enough evidence to rate Green unless additional evidence from labs.
Adult onset movement disorder v0.130 PDE2A Louise Daugherty Classified gene: PDE2A as Amber List (moderate evidence)
Adult onset movement disorder v0.130 PDE2A Louise Daugherty Added comment: Comment on list classification: downgraded to Amber until evidence from GLH
Adult onset movement disorder v0.130 PDE2A Louise Daugherty Gene: pde2a has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v0.129 VAMP2 Louise Daugherty Classified gene: VAMP2 as Amber List (moderate evidence)
Adult onset movement disorder v0.129 VAMP2 Louise Daugherty Added comment: Comment on list classification: downgraded to amber until evidence from the GLH
Adult onset movement disorder v0.129 VAMP2 Louise Daugherty Gene: vamp2 has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v0.128 VAMP2 Louise Daugherty edited their review of gene: VAMP2: Changed rating: AMBER
Adult onset movement disorder v0.128 VAMP2 Louise Daugherty edited their review of gene: VAMP2: Added comment: PMID: 30929742 : Literature reports 5 individuals, all with heterozygous de novo variants in VAMP2, it is currently not associated with any phenotypes in OMIM or G2P; Changed rating: GREEN; Changed publications: 30929742; Changed phenotypes: Cortical visual impairment, Seizures, Stereotypic behavior, Generalized hypotonia, Intellectual disability, Abnormality of movement, Global developmental delay, Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment, Autistic behavior; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset movement disorder v0.128 GLB1 Louise Daugherty Classified gene: GLB1 as Amber List (moderate evidence)
Adult onset movement disorder v0.128 GLB1 Louise Daugherty Added comment: Comment on list classification: Rated Amber until further review/agreement with the Neurology Test Group. To be reviewed before panel sign off
Adult onset movement disorder v0.128 GLB1 Louise Daugherty Gene: glb1 has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v0.127 GLB1 Louise Daugherty Added comment: Comment on publications: added publications to support gene-phenotype
Adult onset movement disorder v0.127 GLB1 Louise Daugherty Publications for gene: GLB1 were set to
Adult onset movement disorder v0.126 GLB1 Louise Daugherty gene: GLB1 was added
gene: GLB1 was added to Adult onset movement disorder. Sources: Expert Review
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to GM1-gangliosidosis, type III, 230650
Review for gene: GLB1 was set to GREEN
Added comment: New Green gene suggested by Dr Julia Rankin, Consultant in Clinical Genetics (Royal Devon and Exeter NHS Foundation Trust). Adults with GM1 gangliosidosis can present with dystonia and parkinsonism.
Sources: Expert Review
Adult onset movement disorder v0.125 PDE2A Louise Daugherty changed review comment from: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. ; to: Review and rating submitted by James Polke, unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset movement disorder v0.125 VAMP2 Louise Daugherty changed review comment from: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. ; to: Review and rating submitted by James Polke, unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset movement disorder v0.125 TIMM8A Louise Daugherty Mode of inheritance for gene: TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset movement disorder v0.124 TBK1 Louise Daugherty Mode of inheritance for gene: TBK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset movement disorder v0.123 TBK1 Louise Daugherty Phenotypes for gene: TBK1 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439
Adult onset movement disorder v0.122 RNF216 Louise Daugherty Mode of inheritance for gene: RNF216 was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.121 RNF216 Louise Daugherty Phenotypes for gene: RNF216 were changed from to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Adult onset movement disorder v0.120 GTPBP2 Louise Daugherty Mode of inheritance for gene: GTPBP2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.120 GTPBP2 Louise Daugherty Mode of inheritance for gene: GTPBP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.119 GTPBP2 Louise Daugherty Phenotypes for gene: GTPBP2 were changed from to Jaberi-Elahi syndrome, 617988; Dystonia
Adult onset movement disorder v0.118 AFG3L2 Louise Daugherty Mode of inheritance for gene: AFG3L2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset movement disorder v0.117 AFG3L2 Louise Daugherty Phenotypes for gene: AFG3L2 were changed from Dystonia to Dystonia; Spastic ataxia 5, autosomal recessive, 614487; Spinocerebellar ataxia 28, 610246
Adult onset movement disorder v0.116 ACTB Louise Daugherty Mode of inheritance for gene: ACTB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset movement disorder v0.115 ACTB Louise Daugherty Phenotypes for gene: ACTB were changed from Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 to Dystonia, juvenile-onset, 607371; Baraitser-Winter syndrome 1, 243310
Adult onset movement disorder v0.114 Louise Daugherty List of related panels changed from to R56
Adult onset movement disorder v0.113 YY1 Louise Daugherty Classified gene: YY1 as Amber List (moderate evidence)
Adult onset movement disorder v0.113 YY1 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset movement disorder v0.113 YY1 Louise Daugherty Gene: yy1 has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v0.112 SLC19A3 Louise Daugherty Classified gene: SLC19A3 as Green List (high evidence)
Adult onset movement disorder v0.112 SLC19A3 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Adult onset movement disorder v0.112 SLC19A3 Louise Daugherty Gene: slc19a3 has been classified as Green List (High Evidence).
Adult onset movement disorder v0.111 PDGFRB Louise Daugherty Classified gene: PDGFRB as Green List (high evidence)
Adult onset movement disorder v0.111 PDGFRB Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Adult onset movement disorder v0.111 PDGFRB Louise Daugherty Gene: pdgfrb has been classified as Green List (High Evidence).
Adult onset movement disorder v0.110 PDGFRB Louise Daugherty Deleted their comment
Adult onset movement disorder v0.110 PDGFRB Louise Daugherty Classified gene: PDGFRB as Amber List (moderate evidence)
Adult onset movement disorder v0.110 PDGFRB Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset movement disorder v0.110 PDGFRB Louise Daugherty Gene: pdgfrb has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v0.109 MT-ND6 Louise Daugherty Classified gene: MT-ND6 as Red List (low evidence)
Adult onset movement disorder v0.109 MT-ND6 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Adult onset movement disorder v0.109 MT-ND6 Louise Daugherty Gene: mt-nd6 has been classified as Red List (Low Evidence).
Adult onset movement disorder v0.108 MT-ND1 Louise Daugherty Classified gene: MT-ND1 as Red List (low evidence)
Adult onset movement disorder v0.108 MT-ND1 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Adult onset movement disorder v0.108 MT-ND1 Louise Daugherty Gene: mt-nd1 has been classified as Red List (Low Evidence).
Adult onset movement disorder v0.107 MT-ATP6 Louise Daugherty Classified gene: MT-ATP6 as Red List (low evidence)
Adult onset movement disorder v0.107 MT-ATP6 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Adult onset movement disorder v0.107 MT-ATP6 Louise Daugherty Gene: mt-atp6 has been classified as Red List (Low Evidence).
Adult onset movement disorder v0.106 ISCA-37468-Loss Louise Daugherty Triplosensitivity Score for ISCA-37468-Loss was changed from to None.
Source London North GLH was removed from Region: ISCA-37468-Loss.
Source Other was added to Region: ISCA-37468-Loss.
Model of inheritance for Region: ISCA-37468-Loss was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset movement disorder v0.105 KIAA1161 Louise Daugherty changed review comment from: Comment on list classification: Appropriate phenotype, sufficient cases all support gene-disease association and relevance to this panel to rate gene to Green.; to: Comment on list classification: Appropriate phenotype, sufficient cases all support gene-disease association and relevance to this panel to rate gene to Green. Adult onset (range twenties to fifties)
Adult onset movement disorder v0.105 KIAA1161 Louise Daugherty edited their review of gene: KIAA1161: Changed phenotypes: Autosomal Recessive Primary Familial Brain Calcification, Basal ganglia calcification, idiopathic, 7, autosomal recessive, Abnormal movements, Dystonia
Adult onset movement disorder v0.105 KIAA1161 Louise Daugherty Phenotypes for gene: KIAA1161 were changed from Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive to Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive; Abnormal movements; Dystonia
Adult onset movement disorder v0.104 KIAA1161 Louise Daugherty Classified gene: KIAA1161 as Green List (high evidence)
Adult onset movement disorder v0.104 KIAA1161 Louise Daugherty Added comment: Comment on list classification: Appropriate phenotype, sufficient cases all support gene-disease association and relevance to this panel to rate gene to Green.
Adult onset movement disorder v0.104 KIAA1161 Louise Daugherty Gene: kiaa1161 has been classified as Green List (High Evidence).
Adult onset movement disorder v0.103 KIAA1161 Louise Daugherty commented on gene: KIAA1161: Publications to support green rating. Arkadir et al. (2019) PMID: 30656188 reported 2 unrelated families of Middle Eastern origin with IBGC7 (Basal ganglia cancification, idiopathic, 7). Forouhideh et al. (2019) PMID: 30649222 reported 4 sibs, born of consanguineous Turkish parents, with IBGC7.
Adult onset movement disorder v0.103 KIAA1161 Louise Daugherty Phenotypes for gene: KIAA1161 were changed from Basal ganglia calcification, idiopathic, 7, autosomal recessive to Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive
Adult onset movement disorder v0.102 KIAA1161 Louise Daugherty commented on gene: KIAA1161: added new-gene-name tag, new approved HGNC gene symbol for KIAA1161 is MYORG
Adult onset movement disorder v0.102 KIAA1161 Louise Daugherty Tag new-gene-name tag was added to gene: KIAA1161.
Adult onset movement disorder v0.102 KIAA1161 Louise Daugherty gene: KIAA1161 was added
gene: KIAA1161 was added to Adult onset movement disorder. Sources: Expert Review
Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1161 were set to 29910000; 30589467; 30656188; 30649222; 31009047
Phenotypes for gene: KIAA1161 were set to Basal ganglia calcification, idiopathic, 7, autosomal recessive
Review for gene: KIAA1161 was set to GREEN
Added comment: Sources: Expert Review
Adult onset movement disorder v0.101 WDR73 Louise Daugherty Source Expert Review Red was added to WDR73.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 VAC14 Louise Daugherty Source Expert Review Red was added to VAC14.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 TUBA1A Louise Daugherty Source Expert Review Red was added to TUBA1A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 TH Louise Daugherty Source Expert Review Red was added to TH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 SURF1 Louise Daugherty Source Expert Review Red was added to SURF1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 SUCLG1 Louise Daugherty Source Expert Review Red was added to SUCLG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 SUCLA2 Louise Daugherty Source Expert Review Red was added to SUCLA2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 SLC6A5 Louise Daugherty Source Expert Review Red was added to SLC6A5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 SLC6A3 Louise Daugherty Source Expert Review Red was added to SLC6A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 SLC39A14 Louise Daugherty Source Expert Review Red was added to SLC39A14.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 SLC25A19 Louise Daugherty Source Expert Review Red was added to SLC25A19.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 SLC1A3 Louise Daugherty Source Expert Review Red was added to SLC1A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 SERAC1 Louise Daugherty Source Expert Review Red was added to SERAC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 SDHA Louise Daugherty Source Expert Review Red was added to SDHA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 SCN8A Louise Daugherty Source Expert Review Red was added to SCN8A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 SCN1A Louise Daugherty Source Expert Review Red was added to SCN1A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 PDP1 Louise Daugherty Source Expert Review Red was added to PDP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 PDHA1 Louise Daugherty Source Expert Review Red was added to PDHA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 PCCB Louise Daugherty Source Expert Review Red was added to PCCB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 PCCA Louise Daugherty Source Expert Review Red was added to PCCA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 OPA3 Louise Daugherty Source Expert Review Red was added to OPA3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 OCLN Louise Daugherty Source Expert Review Red was added to OCLN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 NKX6-2 Louise Daugherty Source Expert Review Red was added to NKX6-2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 NDUFV1 Louise Daugherty Source Expert Review Red was added to NDUFV1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 NDUFS8 Louise Daugherty Source Expert Review Red was added to NDUFS8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 NDUFS7 Louise Daugherty Source Expert Review Red was added to NDUFS7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 NDUFS4 Louise Daugherty Source Expert Review Red was added to NDUFS4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 NDUFAF6 Louise Daugherty Source Expert Review Red was added to NDUFAF6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 NDUFAF2 Louise Daugherty Source Expert Review Red was added to NDUFAF2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 NDUFA10 Louise Daugherty Source Expert Review Red was added to NDUFA10.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 NDUFA1 Louise Daugherty Source Expert Review Red was added to NDUFA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 MUT Louise Daugherty Source Expert Review Red was added to MUT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 MECR Louise Daugherty Source Expert Review Red was added to MECR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 KCNQ3 Louise Daugherty Source Expert Review Red was added to KCNQ3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 KCNQ2 Louise Daugherty Source Expert Review Red was added to KCNQ2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 KCNA1 Louise Daugherty Source Expert Review Red was added to KCNA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 IVD Louise Daugherty Source Expert Review Red was added to IVD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 ISG15 Louise Daugherty Source Expert Review Red was added to ISG15.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 IFIH1 Louise Daugherty Source Expert Review Red was added to IFIH1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 HTRA2 Louise Daugherty Source Expert Review Red was added to HTRA2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 HIBCH Louise Daugherty Source Expert Review Red was added to HIBCH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 GNAO1 Louise Daugherty Source Expert Review Red was added to GNAO1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 GLRB Louise Daugherty Source Expert Review Red was added to GLRB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 GLRA1 Louise Daugherty Source Expert Review Red was added to GLRA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 GCDH Louise Daugherty Source Expert Review Red was added to GCDH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 FOXP2 Louise Daugherty Source Expert Review Red was added to FOXP2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 FA2H Louise Daugherty Source Expert Review Red was added to FA2H.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 ETHE1 Louise Daugherty Source Expert Review Red was added to ETHE1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 DLAT Louise Daugherty Source Expert Review Red was added to DLAT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 CSTB Louise Daugherty Source Expert Review Red was added to CSTB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 COX15 Louise Daugherty Source Expert Review Red was added to COX15.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 COX10 Louise Daugherty Source Expert Review Red was added to COX10.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 COASY Louise Daugherty Source Expert Review Red was added to COASY.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 CACNB4 Louise Daugherty Source Expert Review Red was added to CACNB4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 BCS1L Louise Daugherty Source Expert Review Red was added to BCS1L.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 BCAP31 Louise Daugherty Source Expert Review Red was added to BCAP31.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 AP1S2 Louise Daugherty Source Expert Review Red was added to AP1S2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 ADCY5 Louise Daugherty Source Expert Review Red was added to ADCY5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.101 ADAR Louise Daugherty Source Expert Review Red was added to ADAR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.100 WDR73 Louise Daugherty commented on gene: WDR73: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 VAC14 Louise Daugherty commented on gene: VAC14: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 TUBA1A Louise Daugherty commented on gene: TUBA1A: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 TH Louise Daugherty commented on gene: TH: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 SURF1 Louise Daugherty commented on gene: SURF1: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 SUCLG1 Louise Daugherty commented on gene: SUCLG1: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 SUCLA2 Louise Daugherty commented on gene: SUCLA2: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 SLC6A5 Louise Daugherty commented on gene: SLC6A5: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 SLC6A3 Louise Daugherty commented on gene: SLC6A3: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 SLC39A14 Louise Daugherty commented on gene: SLC39A14: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 SLC25A19 Louise Daugherty commented on gene: SLC25A19: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 SLC1A3 Louise Daugherty commented on gene: SLC1A3: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 SERAC1 Louise Daugherty commented on gene: SERAC1: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 SDHA Louise Daugherty commented on gene: SDHA: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 SCN8A Louise Daugherty commented on gene: SCN8A: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 SCN1A Louise Daugherty commented on gene: SCN1A: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 PDP1 Louise Daugherty commented on gene: PDP1: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 PDHA1 Louise Daugherty commented on gene: PDHA1: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 PCCB Louise Daugherty commented on gene: PCCB: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 PCCA Louise Daugherty commented on gene: PCCA: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 OPA3 Louise Daugherty commented on gene: OPA3: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 OCLN Louise Daugherty commented on gene: OCLN: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 NKX6-2 Louise Daugherty commented on gene: NKX6-2: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 NDUFV1 Louise Daugherty commented on gene: NDUFV1: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 NDUFS8 Louise Daugherty commented on gene: NDUFS8: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 NDUFS7 Louise Daugherty commented on gene: NDUFS7: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 NDUFS4 Louise Daugherty commented on gene: NDUFS4: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 NDUFAF6 Louise Daugherty commented on gene: NDUFAF6: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 NDUFAF2 Louise Daugherty commented on gene: NDUFAF2: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 NDUFA10 Louise Daugherty commented on gene: NDUFA10: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 NDUFA1 Louise Daugherty commented on gene: NDUFA1: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 MUT Louise Daugherty commented on gene: MUT: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 MECR Louise Daugherty commented on gene: MECR: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 KCNQ3 Louise Daugherty commented on gene: KCNQ3: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 KCNQ2 Louise Daugherty commented on gene: KCNQ2: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 KCNA1 Louise Daugherty commented on gene: KCNA1: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 IVD Louise Daugherty commented on gene: IVD: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 ISG15 Louise Daugherty commented on gene: ISG15: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 IFIH1 Louise Daugherty commented on gene: IFIH1: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 HTRA2 Louise Daugherty commented on gene: HTRA2: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 HIBCH Louise Daugherty commented on gene: HIBCH: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 GNAO1 Louise Daugherty commented on gene: GNAO1: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 GLRB Louise Daugherty commented on gene: GLRB: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 GLRA1 Louise Daugherty commented on gene: GLRA1: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 GCDH Louise Daugherty commented on gene: GCDH: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 FOXP2 Louise Daugherty commented on gene: FOXP2: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 FA2H Louise Daugherty commented on gene: FA2H: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 ETHE1 Louise Daugherty commented on gene: ETHE1: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 DLAT Louise Daugherty commented on gene: DLAT: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 CSTB Louise Daugherty commented on gene: CSTB: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 COX15 Louise Daugherty commented on gene: COX15: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 COX10 Louise Daugherty commented on gene: COX10: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 COASY Louise Daugherty commented on gene: COASY: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 CACNB4 Louise Daugherty commented on gene: CACNB4: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 BCS1L Louise Daugherty commented on gene: BCS1L: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 BCAP31 Louise Daugherty commented on gene: BCAP31: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 AP1S2 Louise Daugherty commented on gene: AP1S2: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 ADCY5 Louise Daugherty commented on gene: ADCY5: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.100 ADAR Louise Daugherty commented on gene: ADAR: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset movement disorder v0.99 YY1 Louise Daugherty commented on gene: YY1: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 WDR73 Louise Daugherty commented on gene: WDR73: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 VAC14 Louise Daugherty commented on gene: VAC14: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 TUBA1A Louise Daugherty commented on gene: TUBA1A: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 TH Louise Daugherty commented on gene: TH: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 SURF1 Louise Daugherty commented on gene: SURF1: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 SUCLG1 Louise Daugherty commented on gene: SUCLG1: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 SUCLA2 Louise Daugherty commented on gene: SUCLA2: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 SLC6A5 Louise Daugherty commented on gene: SLC6A5: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 SLC6A3 Louise Daugherty commented on gene: SLC6A3: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 SLC39A14 Louise Daugherty commented on gene: SLC39A14: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 SLC25A19 Louise Daugherty commented on gene: SLC25A19: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 SLC1A3 Louise Daugherty commented on gene: SLC1A3: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 SLC19A3 Louise Daugherty commented on gene: SLC19A3: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 SERAC1 Louise Daugherty commented on gene: SERAC1: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 SDHA Louise Daugherty commented on gene: SDHA: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 SCN8A Louise Daugherty commented on gene: SCN8A: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 SCN1A Louise Daugherty commented on gene: SCN1A: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 PDP1 Louise Daugherty commented on gene: PDP1: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 PDHA1 Louise Daugherty commented on gene: PDHA1: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 PDGFRB Louise Daugherty commented on gene: PDGFRB: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 PCCB Louise Daugherty commented on gene: PCCB: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 PCCA Louise Daugherty commented on gene: PCCA: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 OPA3 Louise Daugherty commented on gene: OPA3: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 OCLN Louise Daugherty commented on gene: OCLN: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 NKX6-2 Louise Daugherty commented on gene: NKX6-2: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 NDUFV1 Louise Daugherty commented on gene: NDUFV1: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 NDUFS8 Louise Daugherty commented on gene: NDUFS8: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 NDUFS7 Louise Daugherty commented on gene: NDUFS7: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 NDUFS4 Louise Daugherty commented on gene: NDUFS4: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 NDUFAF6 Louise Daugherty commented on gene: NDUFAF6: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 NDUFAF2 Louise Daugherty commented on gene: NDUFAF2: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 NDUFA10 Louise Daugherty commented on gene: NDUFA10: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 NDUFA1 Louise Daugherty commented on gene: NDUFA1: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 MUT Louise Daugherty commented on gene: MUT: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 MT-ND6 Louise Daugherty commented on gene: MT-ND6: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 MT-ND1 Louise Daugherty commented on gene: MT-ND1: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 MT-ATP6 Louise Daugherty commented on gene: MT-ATP6: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 MECR Louise Daugherty commented on gene: MECR: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 KCNQ3 Louise Daugherty commented on gene: KCNQ3: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 KCNQ2 Louise Daugherty commented on gene: KCNQ2: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 KCNA1 Louise Daugherty commented on gene: KCNA1: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 IVD Louise Daugherty commented on gene: IVD: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 ISG15 Louise Daugherty commented on gene: ISG15: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 IFIH1 Louise Daugherty commented on gene: IFIH1: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 HTRA2 Louise Daugherty commented on gene: HTRA2: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 HIBCH Louise Daugherty commented on gene: HIBCH: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 GNAO1 Louise Daugherty commented on gene: GNAO1: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 GLRB Louise Daugherty commented on gene: GLRB: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 GLRA1 Louise Daugherty commented on gene: GLRA1: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 GCDH Louise Daugherty commented on gene: GCDH: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 FOXP2 Louise Daugherty commented on gene: FOXP2: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 FA2H Louise Daugherty commented on gene: FA2H: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 ETHE1 Louise Daugherty commented on gene: ETHE1: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 DLAT Louise Daugherty commented on gene: DLAT: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 CSTB Louise Daugherty commented on gene: CSTB: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 COX15 Louise Daugherty commented on gene: COX15: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 COX10 Louise Daugherty commented on gene: COX10: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 COASY Louise Daugherty commented on gene: COASY: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 CACNB4 Louise Daugherty commented on gene: CACNB4: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 BCS1L Louise Daugherty commented on gene: BCS1L: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 BCAP31 Louise Daugherty commented on gene: BCAP31: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 AP1S2 Louise Daugherty commented on gene: AP1S2: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 ADCY5 Louise Daugherty commented on gene: ADCY5: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.99 ADAR Louise Daugherty commented on gene: ADAR: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset movement disorder v0.98 YY1 James Polke edited their review of gene: YY1: Added comment: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming new Amber review (from Red) and flagged for further discssion with the GMS Neurology specialist test group: Gabriele-de Vries syndrome - phenotype variable - ?DISCUSS; Changed rating: AMBER
Adult onset movement disorder v0.98 WDR73 James Polke commented on gene: WDR73: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Galloway-Mowat syndrome 1 - onset and often death in infancy
Adult onset movement disorder v0.98 VAC14 James Polke commented on gene: VAC14: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Striatonigral degeneration (can include dystonia): onset in early childhood
Adult onset movement disorder v0.98 TUBA1A James Polke commented on gene: TUBA1A: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Lissencephaly 3 - not for this panel
Adult onset movement disorder v0.98 TH James Polke commented on gene: TH: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Segawa syndrome (onset in infancy of dopa-responsive dystonia): onset in infancy or early childhood
Adult onset movement disorder v0.98 SURF1 James Polke commented on gene: SURF1: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: CMT4K (childhood) and Leigh Syndrome (infancy)
Adult onset movement disorder v0.98 SUCLG1 James Polke commented on gene: SUCLG1: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), onset in infancy
Adult onset movement disorder v0.98 SUCLA2 James Polke commented on gene: SUCLA2: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - onset in infancy
Adult onset movement disorder v0.98 SLC6A5 James Polke commented on gene: SLC6A5: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Hyperekplexia 3 onset in infancy
Adult onset movement disorder v0.98 SLC6A3 James Polke commented on gene: SLC6A3: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Infantile parkinsonism-dystonia (hyperkinesia with orolingual and limb dyskinesia, dystonia, and chorea, or hypokinesia with parkinsonian features, such as bradykinesia, rigidity, and tremor): onset in early infancy
Adult onset movement disorder v0.98 SLC39A14 James Polke commented on gene: SLC39A14: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Hypermanganesemia with dystonia 2 - onset in infancy or early childhood
Adult onset movement disorder v0.98 SLC25A19 James Polke commented on gene: SLC25A19: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) onset in childhood, Microcephaly, Amish type - onset in infancy
Adult onset movement disorder v0.98 SLC1A3 James Polke commented on gene: SLC1A3: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Episodic ataxia 6 - onset in childhood, may be later - thought better on the ataxia panel
Adult onset movement disorder v0.98 SLC19A3 James Polke edited their review of gene: SLC19A3: Added comment: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming new Amber review (from Red) and flagged for further discssion with the GMS Neurology specialist test group: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) - variable age of onset birth to adolesence, dystonia may persist after episodes have resolved ?DISCUSS; Changed rating: AMBER
Adult onset movement disorder v0.98 SERAC1 James Polke commented on gene: SERAC1: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome - onset in infancy/early childhood
Adult onset movement disorder v0.98 SDHA James Polke commented on gene: SDHA: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Mitochondrial phenotpye (LS) infancy/early childhood
Adult onset movement disorder v0.98 SCN8A James Polke commented on gene: SCN8A: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Number of epileptic phenotypes all early infancy/childhood onset
Adult onset movement disorder v0.98 SCN1A James Polke commented on gene: SCN1A: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Dravet's syndrome (onset in early childhood) FHM - ? Movement disorder
Adult onset movement disorder v0.98 PDP1 James Polke commented on gene: PDP1: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Pyruvate dehydrogenase phosphatase deficiency onset in infancy
Adult onset movement disorder v0.98 PDHA1 James Polke commented on gene: PDHA1: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Pyruvate dehydrogenase E1-alpha deficiency - onset in infancy/early childhood
Adult onset movement disorder v0.98 PDGFRB James Polke edited their review of gene: PDGFRB: Added comment: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming new Amber review (from Red) and flagged for further discssion with the GMS Neurology specialist test group: Basal ganglia calcification, idiopathic, 4 variable age of onset parkinsonism part of phenotype ?DISCUSS; Changed rating: AMBER
Adult onset movement disorder v0.98 PCCB James Polke commented on gene: PCCB: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Propionicacidemia - onset in 1st few weeks of life
Adult onset movement disorder v0.98 PCCA James Polke commented on gene: PCCA: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Propionicacidemia - onset in 1st few weeks of life
Adult onset movement disorder v0.98 OPA3 James Polke commented on gene: OPA3: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Optic atrophy with chorea and spastic paraplegia, infantile. Onset in infancy of optic atrophy, movement disorder later in childhood.
Adult onset movement disorder v0.98 OCLN James Polke commented on gene: OCLN: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Pseudo-TORCH syndrome 1 - onset in infancy/early childhood
Adult onset movement disorder v0.98 NKX6-2 James Polke commented on gene: NKX6-2: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Spastic ataxia-8 with hypomyelinating leukodystrophy (includes dystonia): onset in first year of life
Adult onset movement disorder v0.98 NDUFV1 James Polke commented on gene: NDUFV1: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Mitochondrial complex I deficiency, nuclear type 4 - onset in infancy
Adult onset movement disorder v0.98 NDUFS8 James Polke commented on gene: NDUFS8: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Mitochondrial complex I deficiency, nuclear type 2 onset early infancy/childhood
Adult onset movement disorder v0.98 NDUFS7 James Polke commented on gene: NDUFS7: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Mitochondrial complex I deficiency, nuclear type 3 onset in infancy
Adult onset movement disorder v0.98 NDUFS4 James Polke commented on gene: NDUFS4: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Mitochondrial complex I deficiency, nuclear type 1 onset in infancy
Adult onset movement disorder v0.98 NDUFAF6 James Polke commented on gene: NDUFAF6: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Mitochondrial complex I deficiency, nuclear type 17, onset in infancy or childhood
Adult onset movement disorder v0.98 NDUFAF2 James Polke commented on gene: NDUFAF2: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Mitochondrial complex I deficiency, nuclear type 10, onset in infancy or childhood
Adult onset movement disorder v0.98 NDUFA10 James Polke commented on gene: NDUFA10: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Mitochondrial complex I deficiency, nuclear type 22 - onset in infancy
Adult onset movement disorder v0.98 NDUFA1 James Polke commented on gene: NDUFA1: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Mitochondrial complex I deficiency - onset in first year of life
Adult onset movement disorder v0.98 MUT James Polke commented on gene: MUT: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Methylmalonic aciduria - not a movement disorder
Adult onset movement disorder v0.98 MT-ND6 James Polke commented on gene: MT-ND6: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: additonal review from Prof Huw Morris : I would suggest not including mitochondrial genes (although many can cause dystonia parkinsonsim) but rather including on the reports something along the lines:Concurrent CPEO, myopathy, neuropathy, optic atrophy may suggest a mitochondria disorder in a patient with ataxia, Parkinsonism or dystonia. Muscle biopsy, enzyme analysis and analysis of the mitochindrial gene panel may be useful
Adult onset movement disorder v0.98 MT-ND1 James Polke commented on gene: MT-ND1: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: additonal review from Prof Huw Morris : I would suggest not including mitochondrial genes (although many can cause dystonia parkinsonsim) but rather including on the reports something along the lines:Concurrent CPEO, myopathy, neuropathy, optic atrophy may suggest a mitochondria disorder in a patient with ataxia, Parkinsonism or dystonia. Muscle biopsy, enzyme analysis and analysis of the mitochindrial gene panel may be useful
Adult onset movement disorder v0.98 MT-ATP6 James Polke commented on gene: MT-ATP6: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: additonal review from Prof Huw Morris : I would suggest not including mitochondrial genes (although many can cause dystonia parkinsonsim) but rather including on the reports something along the lines:Concurrent CPEO, myopathy, neuropathy, optic atrophy may suggest a mitochondria disorder in a patient with ataxia, Parkinsonism or dystonia. Muscle biopsy, enzyme analysis and analysis of the mitochindrial gene panel may be useful
Adult onset movement disorder v0.98 MECR James Polke commented on gene: MECR: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalitie
Adult onset movement disorder v0.98 KCNQ3 James Polke commented on gene: KCNQ3: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Benign neonatal sizures
Adult onset movement disorder v0.98 KCNQ2 James Polke commented on gene: KCNQ2: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Epileptic encephalopathy, early infantile, benign neonatal seizures, myokymia
Adult onset movement disorder v0.98 KCNA1 James Polke commented on gene: KCNA1: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Episodic ataxia 1 onset in childhood
Adult onset movement disorder v0.98 IVD James Polke commented on gene: IVD: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Isovaleric acidemia - onset/death in infancy
Adult onset movement disorder v0.98 ISG15 James Polke commented on gene: ISG15: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Immunodeficiancy - not a movement disorder
Adult onset movement disorder v0.98 IFIH1 James Polke commented on gene: IFIH1: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Aicardi-Goutieres syndrome 7 (dystonia part of phenotype but onset in infancy/early childhood
Adult onset movement disorder v0.98 HTRA2 James Polke commented on gene: HTRA2: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: 3-methylglutaconic aciduria, type VIII (symptoms include extrapyramidal signs and dystonic posturing): Death in infancy
Adult onset movement disorder v0.98 HIBCH James Polke commented on gene: HIBCH: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: 3-hydroxyisobutryl-CoA hydrolase deficiency - onset in infancy
Adult onset movement disorder v0.98 GNAO1 James Polke commented on gene: GNAO1: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Neurodevelopmental disorder with involuntary movements (infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis)
Adult onset movement disorder v0.98 GLRB James Polke commented on gene: GLRB: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Hyperekplexia - onset in infancy
Adult onset movement disorder v0.98 GLRA1 James Polke commented on gene: GLRA1: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Hyperekplexia - onset in infancy
Adult onset movement disorder v0.98 GCDH James Polke commented on gene: GCDH: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Glutaric aciduria, type I (progressive movement disorder that usually begins during the first year of life)
Adult onset movement disorder v0.98 FOXP2 James Polke commented on gene: FOXP2: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Speech and language disorder
Adult onset movement disorder v0.98 FA2H James Polke commented on gene: FA2H: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Spastic paraplegia 35 (dystonia can be present): onset in childhood
Adult onset movement disorder v0.98 ETHE1 James Polke commented on gene: ETHE1: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Ethylmalonic encephalopathy - onset in first month of life
Adult onset movement disorder v0.98 DLAT James Polke commented on gene: DLAT: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Pyruvate dehydrogenase E2 deficiency (includes episodic dystonia, choreoathetoid movements): onset in infancy
Adult onset movement disorder v0.98 CSTB James Polke commented on gene: CSTB: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Progressive myoclonic epilepsy - most dodecmer expansion
Adult onset movement disorder v0.98 COX15 James Polke commented on gene: COX15: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Leigh syndrome - infancy/early childhood onset
Adult onset movement disorder v0.98 COX10 James Polke commented on gene: COX10: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: mitochondrial disorder - not a movement disorder
Adult onset movement disorder v0.98 COASY James Polke commented on gene: COASY: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Neurodegeneration with brain iron accumulation 6 (onset in infancy or early childhood)
Adult onset movement disorder v0.98 CACNB4 James Polke commented on gene: CACNB4: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Episodic ataxia 5 - I think we discussed as part of the ataxia panel and decided against including this as we have never reported any variants classified as more than a VUS
Adult onset movement disorder v0.98 BCS1L James Polke commented on gene: BCS1L: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: early childhood onset? Not a movement disorder
Adult onset movement disorder v0.98 BCAP31 James Polke commented on gene: BCAP31: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Deafness, dystonia and cerebral hypomyelination (DDCH): childhood onset
Adult onset movement disorder v0.98 AP1S2 James Polke commented on gene: AP1S2: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: onset in infancy - mental retardation syndrome
Adult onset movement disorder v0.98 ADCY5 James Polke commented on gene: ADCY5: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Familial dyskinesia with facial myokymia: childhood onset (choreoathetosis, dystonia, myokymia)
Adult onset movement disorder v0.98 ADAR James Polke commented on gene: ADAR: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: AGS6 + dyschromatosis symmetrica hereditaria with dystonia: childhood onset
Adult onset movement disorder v0.97 ISCA-37468-Loss Louise Daugherty changed review comment from: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xls : 66 genes that LNGLH classified as red but which are green on the 100K panel. As you can see the majority are classified red due to their age of onset. There are a few which we felt did not fit the phenotype and 3 (which I have highlighted amber) that perhaps warrant more discussion.

Comment on list classification for the Region ISCA-37468-Loss : Red: MAOA/B deletion syndrome (stereotypical hand movements); to: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xls : 66 genes that LNGLH classified as red but which are green on the 100K panel. As you can see the majority are classified red due to their age of onset.
Comment on list classification for the Region ISCA-37468-Loss : Red: MAOA/B deletion syndrome (stereotypical hand movements)
Adult onset movement disorder v0.97 ISCA-37468-Loss Louise Daugherty changed review comment from: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xls : 66 genes that LNGLH classified as red but which are green on the 100K panel. As you can see the majority are classified red due to their age of onset. There are a few which we felt did not fit the phenotype and 3 (which I have highlighted amber) that perhaps warrant more discussion.

Comment on list classification for the Region ISCA-37468-Loss : Red: MAOA/B deletion syndrome (stereotypical hand movements); to: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xls : 66 genes that LNGLH classified as red but which are green on the 100K panel. As you can see the majority are classified red due to their age of onset. There are a few which we felt did not fit the phenotype and 3 (which I have highlighted amber) that perhaps warrant more discussion.

Comment on list classification for the Region ISCA-37468-Loss : Red: MAOA/B deletion syndrome (stereotypical hand movements)
Adult onset movement disorder v0.97 ISCA-37468-Loss Louise Daugherty changed review comment from: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xls : 66 genes that LNGLH classified as red but which are green on the 100K panel. As you can see the majority are classified red due to their age of onset. There are a few which we felt did not fit the phenotype and 3 (which I have highlighted amber) that perhaps warrant more discussion.

Comment on list classification for the Region ISCA-37468-Loss : MAOA/B deletion syndrome (stereotypical hand movements); to: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xls : 66 genes that LNGLH classified as red but which are green on the 100K panel. As you can see the majority are classified red due to their age of onset. There are a few which we felt did not fit the phenotype and 3 (which I have highlighted amber) that perhaps warrant more discussion.

Comment on list classification for the Region ISCA-37468-Loss : Red: MAOA/B deletion syndrome (stereotypical hand movements)
Adult onset movement disorder v0.97 ISCA-37468-Loss Louise Daugherty changed review comment from: Further follow up review by Robyn Labrum after webex call 26th July 2019 R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xls : 66 genes that LNGLH classified as red but which are green on the 100K panel. As you can see the majority are classified red due to their age of onset. There are a few which we felt did not fit the phenotype and 3 (which I have highlighted amber) that perhaps warrant more discussion.

Comment on list classification for the Region ISCA-37468-Loss : MAOA/B deletion syndrome (stereotypical hand movements); to: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xls : 66 genes that LNGLH classified as red but which are green on the 100K panel. As you can see the majority are classified red due to their age of onset. There are a few which we felt did not fit the phenotype and 3 (which I have highlighted amber) that perhaps warrant more discussion.

Comment on list classification for the Region ISCA-37468-Loss : MAOA/B deletion syndrome (stereotypical hand movements)
Adult onset movement disorder v0.97 ISCA-37468-Loss Louise Daugherty commented on Region: ISCA-37468-Loss: Further follow up review by Robyn Labrum after webex call 26th July 2019 R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xls : 66 genes that LNGLH classified as red but which are green on the 100K panel. As you can see the majority are classified red due to their age of onset. There are a few which we felt did not fit the phenotype and 3 (which I have highlighted amber) that perhaps warrant more discussion.

Comment on list classification for the Region ISCA-37468-Loss : MAOA/B deletion syndrome (stereotypical hand movements)
Adult onset movement disorder v0.97 ISCA-37468-Loss Louise Daugherty Classified Region: ISCA-37468-Loss as Red List (low evidence)
Adult onset movement disorder v0.97 ISCA-37468-Loss Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this CNV Red
Adult onset movement disorder v0.97 ISCA-37468-Loss Louise Daugherty Region: isca-37468-loss has been classified as Red List (Low Evidence).
Adult onset movement disorder v0.96 TBP_CAG Louise Daugherty commented on STR: TBP_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset movement disorder v0.96 PPP2R2B_CAG Louise Daugherty Source NHS GMS was added to STR: PPP2R2B_CAG.
Adult onset movement disorder v0.95 PPP2R2B_CAG Louise Daugherty commented on STR: PPP2R2B_CAG: STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset movement disorder v0.95 JPH3_CTG Louise Daugherty commented on STR: JPH3_CTG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset movement disorder v0.95 HTT_CAG Louise Daugherty commented on STR: HTT_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset movement disorder v0.95 CSTB_CCCCGCCCCGCG Louise Daugherty Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Adult onset movement disorder v0.94 CSTB_CCCCGCCCCGCG Louise Daugherty commented on STR: CSTB_CCCCGCCCCGCG: STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset movement disorder v0.94 CACNA1A_CAG Louise Daugherty Source NHS GMS was added to STR: CACNA1A_CAG.
Adult onset movement disorder v0.93 CACNA1A_CAG Louise Daugherty commented on STR: CACNA1A_CAG: STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset movement disorder v0.93 CACNA1A_CAG Louise Daugherty commented on STR: CACNA1A_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset movement disorder v0.93 C9orf72_GGGGCC Louise Daugherty commented on STR: C9orf72_GGGGCC: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset movement disorder v0.93 ATXN3_CAG Louise Daugherty commented on STR: ATXN3_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset movement disorder v0.93 ATXN2_CAG Louise Daugherty commented on STR: ATXN2_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset movement disorder v0.93 ATXN1_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN1_CAG.
Adult onset movement disorder v0.92 ATXN1_CAG Louise Daugherty commented on STR: ATXN1_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset movement disorder v0.92 ATN1_CAG Louise Daugherty Source NHS GMS was added to STR: ATN1_CAG.
Adult onset movement disorder v0.91 ATN1_CAG Louise Daugherty commented on STR: ATN1_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset movement disorder v0.91 TAF1 Louise Daugherty commented on gene: TAF1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset movement disorder v0.91 GFAP Louise Daugherty Classified gene: GFAP as Green List (high evidence)
Adult onset movement disorder v0.91 GFAP Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green - despite two initial red ratings from two GLH groups. Adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis.
Adult onset movement disorder v0.91 GFAP Louise Daugherty Gene: gfap has been classified as Green List (High Evidence).
Adult onset movement disorder v0.90 CIZ1 Louise Daugherty commented on gene: CIZ1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset movement disorder v0.90 GFAP Louise Daugherty Deleted their comment
Adult onset movement disorder v0.90 GFAP Louise Daugherty commented on gene: GFAP: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset movement disorder v0.90 CHCHD2 Louise Daugherty commented on gene: CHCHD2: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset movement disorder v0.90 ATN1 Louise Daugherty commented on gene: ATN1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Adult onset movement disorder v0.90 ISCA-37468-Loss Louise Daugherty changed review comment from: Region rating (red) submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : suggested by Huw and Raquel.; to: Region rating (red) submitted by James Polke unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : suggested by Huw and Raquel.
Adult onset movement disorder v0.89 TBP Louise Daugherty edited their review of gene: TBP: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.89 TPK1 Louise Daugherty edited their review of gene: TPK1: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.89 TREM2 Louise Daugherty edited their review of gene: TREM2: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.89 TREX1 Louise Daugherty edited their review of gene: TREX1: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.89 TREX1 Louise Daugherty Mode of inheritance for gene: TREX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.88 VPS37A Louise Daugherty edited their review of gene: VPS37A: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 RNASEH2A Louise Daugherty edited their review of gene: RNASEH2A: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 RNASEH2B Louise Daugherty edited their review of gene: RNASEH2B: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 RNASEH2C Louise Daugherty edited their review of gene: RNASEH2C: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 SAMHD1 Louise Daugherty edited their review of gene: SAMHD1: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED, there is relevance only to childhood onset; Changed rating: RED
Adult onset movement disorder v0.88 SCN9A Louise Daugherty edited their review of gene: SCN9A: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 SCP2 Louise Daugherty edited their review of gene: SCP2: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 SDHAF1 Louise Daugherty edited their review of gene: SDHAF1: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 SLC41A1 Louise Daugherty edited their review of gene: SLC41A1: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 SLC46A1 Louise Daugherty edited their review of gene: SLC46A1: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 SNCAIP Louise Daugherty edited their review of gene: SNCAIP: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 SUOX Louise Daugherty edited their review of gene: SUOX: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED, more associated with childhood onset, which this panel does not represent.; Changed rating: RED
Adult onset movement disorder v0.88 PTEN Louise Daugherty edited their review of gene: PTEN: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 PSEN1 Louise Daugherty edited their review of gene: PSEN1: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 PPP2R2B Louise Daugherty edited their review of gene: PPP2R2B: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 PNPT1 Louise Daugherty edited their review of gene: PNPT1: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 PDX1 Louise Daugherty edited their review of gene: PDX1: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 PDHX Louise Daugherty edited their review of gene: PDHX: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 PCDH12 Louise Daugherty edited their review of gene: PCDH12: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 NUP62 Louise Daugherty Deleted their comment
Adult onset movement disorder v0.88 NUP62 Louise Daugherty commented on gene: NUP62: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Adult onset movement disorder v0.88 NUP62 Louise Daugherty edited their review of gene: NUP62: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 NR4A2 Louise Daugherty edited their review of gene: NR4A2: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 NPC2 Louise Daugherty edited their review of gene: NPC2: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 NDUFS3 Louise Daugherty edited their review of gene: NDUFS3: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 NDUFA9 Louise Daugherty edited their review of gene: NDUFA9: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 NDUFA2 Louise Daugherty edited their review of gene: NDUFA2: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 NDUFA12 Louise Daugherty edited their review of gene: NDUFA12: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 MR1 Louise Daugherty edited their review of gene: MR1: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 MPV17 Louise Daugherty edited their review of gene: MPV17: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 MMADHC Louise Daugherty edited their review of gene: MMADHC: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 MCOLN1 Louise Daugherty edited their review of gene: MCOLN1: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 MAT1A Louise Daugherty edited their review of gene: MAT1A: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 L2HGDH Louise Daugherty edited their review of gene: L2HGDH: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 KCNK18 Louise Daugherty edited their review of gene: KCNK18: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH and London North GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 JPH3 Louise Daugherty edited their review of gene: JPH3: Added comment: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Parkinson Disease and Complex Parkinsonism panel. It relates to the STR JPH3_CTG (rated GREEN) and not the gene entity, as there are no SNVs for this gene being associated to the disorder, so this gene has been rated as RED.; Changed rating: RED
Adult onset movement disorder v0.88 IPPK Louise Daugherty edited their review of gene: IPPK: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 HTT Louise Daugherty edited their review of gene: HTT: Added comment: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Parkinson Disease and Complex Parkinsonism panel. It relates to the STR HTT_CAG (rated GREEN) and not the gene entity, as there are no SNVs for this gene being associated to the disorder, so this gene has been rated as RED.; Changed rating: RED
Adult onset movement disorder v0.88 HPRT1 Louise Daugherty Deleted their comment
Adult onset movement disorder v0.88 HPRT1 Louise Daugherty commented on gene: HPRT1: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Adult onset movement disorder v0.88 GIGYF2 Louise Daugherty commented on gene: GIGYF2: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Adult onset movement disorder v0.88 GAMT Louise Daugherty commented on gene: GAMT: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Adult onset movement disorder v0.88 FOXRED1 Louise Daugherty commented on gene: FOXRED1: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Adult onset movement disorder v0.88 FASTKD2 Louise Daugherty edited their review of gene: FASTKD2: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 ERCC6 Louise Daugherty edited their review of gene: ERCC6: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 EARS2 Louise Daugherty edited their review of gene: EARS2: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 DRD5 Louise Daugherty edited their review of gene: DRD5: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 DRD2 Louise Daugherty edited their review of gene: DRD2: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 DCAF10 Louise Daugherty edited their review of gene: DCAF10: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 BDNF Louise Daugherty edited their review of gene: BDNF: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 ATP6AP2 Louise Daugherty edited their review of gene: ATP6AP2: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 HPRT1 Louise Daugherty edited their review of gene: HPRT1: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 HEXA Louise Daugherty edited their review of gene: HEXA: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 GIGYF2 Louise Daugherty edited their review of gene: GIGYF2: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 GAMT Louise Daugherty edited their review of gene: GAMT: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 FOXRED1 Louise Daugherty edited their review of gene: FOXRED1: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Adult onset movement disorder v0.88 EARS2 Louise Daugherty Phenotypes for gene: EARS2 were changed from Combined oxidative phosphorylation deficiency 12, 614924.; Dystonia to Combined oxidative phosphorylation deficiency 12, 614924; Dystonia
Adult onset movement disorder v0.87 C9orf72 Louise Daugherty edited their review of gene: C9orf72: Added comment: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Parkinson Disease and Complex Parkinsonism panel. It relates to the STR C9orf72_GGGGCC (rated GREEN) and not the gene entity, as there are no SNVs for this gene being associated to the disorder, so this gene has been rated as RED; Changed rating: RED
Adult onset movement disorder v0.87 ATXN3 Louise Daugherty edited their review of gene: ATXN3: Added comment: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Parkinson Disease and Complex Parkinsonism panel. It relates to the STR ATXN3_CAG (rated GREEN) and not the gene entity, as there are no SNVs for this gene being associated to the disorder, so this gene has been rated as RED.; Changed rating: RED
Adult onset movement disorder v0.87 ATXN2 Louise Daugherty edited their review of gene: ATXN2: Added comment: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Parkinson Disease and Complex Parkinsonism panel. It relates to the STR ATXN2_CAG and not the gene entity, as there are no SNVs for this gene being associated to the disorder, this gene is rated RED.; Changed rating: RED
Adult onset movement disorder v0.87 ATXN1 Louise Daugherty edited their review of gene: ATXN1: Changed rating: RED
Adult onset movement disorder v0.87 ATXN1 Louise Daugherty commented on gene: ATXN1: New RED gene added from James Polke (Neurogenetics Laboratory, Institute of Neurology, London), this is likely to relate to the STR ATXN1_CAG and not the gene entity, as there are no SNVs for this gene being associated to the disorder, this gene is rated RED, the STR ATXN1_CAG is rated GREEN. To clarify with the Neurology Test Group in July 2019
Adult onset movement disorder v0.87 ATN1 Louise Daugherty edited their review of gene: ATN1: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180) and Hereditary ataxia v1.148 - Brain channelopathy v1.46.
This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Brain channelopathy panel. The GREEN review from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) is likely to relate to the STR ATN1_CAG and not the gene entity, as there are no SNVs for this gene being associated to the disorder, this gene is rated RED.; Changed rating: RED
Adult onset movement disorder v0.87 PLP1 Louise Daugherty Classified gene: PLP1 as Amber List (moderate evidence)
Adult onset movement disorder v0.87 PLP1 Louise Daugherty Gene: plp1 has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v0.86 PDE2A Louise Daugherty Classified gene: PDE2A as Green List (high evidence)
Adult onset movement disorder v0.86 PDE2A Louise Daugherty Gene: pde2a has been classified as Green List (High Evidence).
Adult onset movement disorder v0.85 NKX2-1 Louise Daugherty Classified gene: NKX2-1 as Green List (high evidence)
Adult onset movement disorder v0.85 NKX2-1 Louise Daugherty Gene: nkx2-1 has been classified as Green List (High Evidence).
Adult onset movement disorder v0.84 GTPBP2 Louise Daugherty Classified gene: GTPBP2 as Green List (high evidence)
Adult onset movement disorder v0.84 GTPBP2 Louise Daugherty Gene: gtpbp2 has been classified as Green List (High Evidence).
Adult onset movement disorder v0.83 FOXG1 Louise Daugherty Classified gene: FOXG1 as Amber List (moderate evidence)
Adult onset movement disorder v0.83 FOXG1 Louise Daugherty Gene: foxg1 has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v0.82 EIF4G1 Louise Daugherty Classified gene: EIF4G1 as Amber List (moderate evidence)
Adult onset movement disorder v0.82 EIF4G1 Louise Daugherty Gene: eif4g1 has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v0.81 DDC Louise Daugherty Mode of inheritance for gene: DDC was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.80 DDC Louise Daugherty Classified gene: DDC as Amber List (moderate evidence)
Adult onset movement disorder v0.80 DDC Louise Daugherty Gene: ddc has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v0.79 CYP27A1 Louise Daugherty Mode of inheritance for gene: CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.78 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis, CTX, 213700; Dystonia to Cerebrotendinous xanthomatosis, CTX, 213700; Dystonia; Dystonia, including childhood & adult onset
Adult onset movement disorder v0.77 CYP27A1 Louise Daugherty Publications for gene: CYP27A1 were set to 24442603
Adult onset movement disorder v0.76 CYP27A1 Louise Daugherty Classified gene: CYP27A1 as Green List (high evidence)
Adult onset movement disorder v0.76 CYP27A1 Louise Daugherty Gene: cyp27a1 has been classified as Green List (High Evidence).
Adult onset movement disorder v0.75 QDPR Louise Daugherty Mode of inheritance for gene: QDPR was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.75 QDPR Louise Daugherty Mode of inheritance for gene: QDPR was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.74 QDPR Louise Daugherty Classified gene: QDPR as Amber List (moderate evidence)
Adult onset movement disorder v0.74 QDPR Louise Daugherty Gene: qdpr has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v0.73 PTS Louise Daugherty Classified gene: PTS as Amber List (moderate evidence)
Adult onset movement disorder v0.73 PTS Louise Daugherty Gene: pts has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v0.72 RNF216 Louise Daugherty Classified gene: RNF216 as Green List (high evidence)
Adult onset movement disorder v0.72 RNF216 Louise Daugherty Gene: rnf216 has been classified as Green List (High Evidence).
Adult onset movement disorder v0.71 UCHL1 Louise Daugherty Classified gene: UCHL1 as Amber List (moderate evidence)
Adult onset movement disorder v0.71 UCHL1 Louise Daugherty Gene: uchl1 has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v0.70 AUH Louise Daugherty Classified gene: AUH as Amber List (moderate evidence)
Adult onset movement disorder v0.70 AUH Louise Daugherty Gene: auh has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v0.69 ACTB Louise Daugherty Mode of pathogenicity for gene: ACTB was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset movement disorder v0.68 ACTB Louise Daugherty Classified gene: ACTB as Green List (high evidence)
Adult onset movement disorder v0.68 ACTB Louise Daugherty Gene: actb has been classified as Green List (High Evidence).
Adult onset movement disorder v0.67 AFG3L2 Louise Daugherty Classified gene: AFG3L2 as Green List (high evidence)
Adult onset movement disorder v0.67 AFG3L2 Louise Daugherty Gene: afg3l2 has been classified as Green List (High Evidence).
Adult onset movement disorder v0.66 ARSA Louise Daugherty Classified gene: ARSA as Amber List (moderate evidence)
Adult onset movement disorder v0.66 ARSA Louise Daugherty Gene: arsa has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v0.65 ARX Louise Daugherty Mode of pathogenicity for gene: ARX was changed from to Other
Adult onset movement disorder v0.64 ARX Louise Daugherty Mode of inheritance for gene: ARX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset movement disorder v0.63 ARX Louise Daugherty Classified gene: ARX as Amber List (moderate evidence)
Adult onset movement disorder v0.63 ARX Louise Daugherty Gene: arx has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v0.62 KCNK18 Louise Daugherty Classified gene: KCNK18 as Red List (low evidence)
Adult onset movement disorder v0.62 KCNK18 Louise Daugherty Gene: kcnk18 has been classified as Red List (Low Evidence).
Adult onset movement disorder v0.61 GNAL Louise Daugherty Classified gene: GNAL as Green List (high evidence)
Adult onset movement disorder v0.61 GNAL Louise Daugherty Gene: gnal has been classified as Green List (High Evidence).
Adult onset movement disorder v0.60 TBK1 Louise Daugherty Classified gene: TBK1 as Green List (high evidence)
Adult onset movement disorder v0.60 TBK1 Louise Daugherty Gene: tbk1 has been classified as Green List (High Evidence).
Adult onset movement disorder v0.59 TIMM8A Louise Daugherty Classified gene: TIMM8A as Green List (high evidence)
Adult onset movement disorder v0.59 TIMM8A Louise Daugherty Gene: timm8a has been classified as Green List (High Evidence).
Adult onset movement disorder v0.58 VAMP2 Louise Daugherty Classified gene: VAMP2 as Green List (high evidence)
Adult onset movement disorder v0.58 VAMP2 Louise Daugherty Gene: vamp2 has been classified as Green List (High Evidence).
Adult onset movement disorder v0.57 ISCA-37468-Loss Louise Daugherty Source London North GLH was added to Region: ISCA-37468-Loss.
Added phenotypes hypotonia; episodes of sudden loss of muscle tone; short stature; severe intellectual disability; autistic features; eleveated serotonin levels; exiting behavior; lip-smacking; stereotypical hand movements for Region: ISCA-37468-Loss
Publications for Region: ISCA-37468-Loss were changed from 20485326; 22365943; 23414621 to 23414621; 20485326; 22365943
Adult onset movement disorder v0.56 ISCA-37468-Loss Louise Daugherty reviewed Region: ISCA-37468-Loss: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset movement disorder v0.56 TBP_CAG Louise Daugherty Source NHS GMS was added to STR: TBP_CAG.
Adult onset movement disorder v0.56 JPH3_CTG Louise Daugherty Source NHS GMS was added to STR: JPH3_CTG.
Adult onset movement disorder v0.56 HTT_CAG Louise Daugherty Source NHS GMS was added to STR: HTT_CAG.
Adult onset movement disorder v0.56 C9orf72_GGGGCC Louise Daugherty Source NHS GMS was added to STR: C9orf72_GGGGCC.
Adult onset movement disorder v0.56 ATXN3_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN3_CAG.
Adult onset movement disorder v0.56 ATXN2_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN2_CAG.
Adult onset movement disorder v0.55 JPH3_CTG Louise Daugherty commented on STR: JPH3_CTG: STR rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : STR
Adult onset movement disorder v0.55 TBP_CAG Louise Daugherty commented on STR: TBP_CAG: STR rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : STR suggested by Huw and Raquel.
Adult onset movement disorder v0.55 HTT_CAG Louise Daugherty commented on STR: HTT_CAG: STR rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : STR
Adult onset movement disorder v0.55 C9orf72_GGGGCC Louise Daugherty commented on STR: C9orf72_GGGGCC: STR rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : STR suggested by Huw and Raquel.
Adult onset movement disorder v0.55 ATXN3_CAG Louise Daugherty commented on STR: ATXN3_CAG: STR rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : STR suggested by Huw and Raquel.
Adult onset movement disorder v0.55 ATXN2_CAG Louise Daugherty commented on STR: ATXN2_CAG: STR rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : STR suggested by Huw and Raquel.
Adult onset movement disorder v0.55 TBP_CAG Louise Daugherty Source London North GLH was added to STR: TBP_CAG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset movement disorder v0.55 JPH3_CTG Louise Daugherty Source London North GLH was added to STR: JPH3_CTG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset movement disorder v0.55 HTT_CAG Louise Daugherty Source London North GLH was added to STR: HTT_CAG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset movement disorder v0.55 C9orf72_GGGGCC Louise Daugherty Source London North GLH was added to STR: C9orf72_GGGGCC.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset movement disorder v0.55 ATXN3_CAG Louise Daugherty Source London North GLH was added to STR: ATXN3_CAG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset movement disorder v0.55 ATXN2_CAG Louise Daugherty Source London North GLH was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset movement disorder v0.54 YY1 Louise Daugherty reviewed gene: YY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 XPR1 Louise Daugherty reviewed gene: XPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 WDR73 Louise Daugherty reviewed gene: WDR73: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 WDR45 Louise Daugherty reviewed gene: WDR45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 VPS35 Louise Daugherty reviewed gene: VPS35: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 VPS13A Louise Daugherty reviewed gene: VPS13A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 VAMP2 Louise Daugherty reviewed gene: VAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 VAC14 Louise Daugherty reviewed gene: VAC14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 TUBB4A Louise Daugherty reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 TUBA1A Louise Daugherty reviewed gene: TUBA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 TOR1A Louise Daugherty reviewed gene: TOR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 THAP1 Louise Daugherty reviewed gene: THAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 TH Louise Daugherty reviewed gene: TH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 TBK1 Louise Daugherty reviewed gene: TBK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 TAF1 Louise Daugherty commented on gene: TAF1: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset movement disorder v0.54 SYNJ1 Louise Daugherty reviewed gene: SYNJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SURF1 Louise Daugherty reviewed gene: SURF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SUCLG1 Louise Daugherty reviewed gene: SUCLG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SUCLA2 Louise Daugherty reviewed gene: SUCLA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SPR Louise Daugherty reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SPG11 Louise Daugherty reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SNCA Louise Daugherty reviewed gene: SNCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SLC6A5 Louise Daugherty reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SLC6A3 Louise Daugherty reviewed gene: SLC6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SLC39A14 Louise Daugherty reviewed gene: SLC39A14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SLC30A10 Louise Daugherty reviewed gene: SLC30A10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SLC2A1 Louise Daugherty reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SLC25A19 Louise Daugherty reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SLC20A2 Louise Daugherty reviewed gene: SLC20A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SLC1A3 Louise Daugherty reviewed gene: SLC1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SLC19A3 Louise Daugherty reviewed gene: SLC19A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SGCE Louise Daugherty reviewed gene: SGCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SERAC1 Louise Daugherty reviewed gene: SERAC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SDHA Louise Daugherty reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SCN8A Louise Daugherty reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 SCN1A Louise Daugherty reviewed gene: SCN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 RNF216 Louise Daugherty reviewed gene: RNF216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 RAB39B Louise Daugherty reviewed gene: RAB39B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 PRRT2 Louise Daugherty reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 PRNP Louise Daugherty reviewed gene: PRNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 PRKRA Louise Daugherty reviewed gene: PRKRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 PRKN Louise Daugherty reviewed gene: PRKN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 PPP2R2B Louise Daugherty reviewed gene: PPP2R2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 PNKD Louise Daugherty reviewed gene: PNKD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 PLA2G6 Louise Daugherty reviewed gene: PLA2G6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 PINK1 Louise Daugherty reviewed gene: PINK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 PDP1 Louise Daugherty reviewed gene: PDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 PDHA1 Louise Daugherty reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 PDGFRB Louise Daugherty reviewed gene: PDGFRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 PDGFB Louise Daugherty reviewed gene: PDGFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 PDE2A Louise Daugherty reviewed gene: PDE2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 PDE10A Louise Daugherty reviewed gene: PDE10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 PCCB Louise Daugherty reviewed gene: PCCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 PCCA Louise Daugherty reviewed gene: PCCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 PARK7 Louise Daugherty reviewed gene: PARK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 PANK2 Louise Daugherty reviewed gene: PANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 OPA3 Louise Daugherty reviewed gene: OPA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 OCLN Louise Daugherty reviewed gene: OCLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 NKX6-2 Louise Daugherty reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 NDUFV1 Louise Daugherty reviewed gene: NDUFV1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 NDUFS8 Louise Daugherty reviewed gene: NDUFS8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 NDUFS7 Louise Daugherty reviewed gene: NDUFS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 NDUFS4 Louise Daugherty reviewed gene: NDUFS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 NDUFAF6 Louise Daugherty reviewed gene: NDUFAF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 NDUFAF2 Louise Daugherty reviewed gene: NDUFAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 NDUFA10 Louise Daugherty reviewed gene: NDUFA10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 NDUFA1 Louise Daugherty reviewed gene: NDUFA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 MT-ND6 Louise Daugherty reviewed gene: MT-ND6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 MT-ND1 Louise Daugherty reviewed gene: MT-ND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 MT-ATP6 Louise Daugherty reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 MUT Louise Daugherty edited their review of gene: MUT: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. ; Changed rating: AMBER
Adult onset movement disorder v0.54 MECR Louise Daugherty reviewed gene: MECR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 MAPT Louise Daugherty reviewed gene: MAPT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 LYST Louise Daugherty reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 LRRK2 Louise Daugherty reviewed gene: LRRK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 KMT2B Louise Daugherty reviewed gene: KMT2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 KCNQ3 Louise Daugherty reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 KCNQ2 Louise Daugherty reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 KCNK18 Louise Daugherty commented on gene: KCNK18: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset movement disorder v0.54 KCNA1 Louise Daugherty reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 IVD Louise Daugherty reviewed gene: IVD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 ISG15 Louise Daugherty reviewed gene: ISG15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 IFIH1 Louise Daugherty reviewed gene: IFIH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 HTRA2 Louise Daugherty reviewed gene: HTRA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 HPCA Louise Daugherty reviewed gene: HPCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 HIBCH Louise Daugherty reviewed gene: HIBCH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 GTPBP2 Louise Daugherty reviewed gene: GTPBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 GRN Louise Daugherty reviewed gene: GRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 GNAO1 Louise Daugherty reviewed gene: GNAO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 GNAL Louise Daugherty commented on gene: GNAL: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset movement disorder v0.54 GLRB Louise Daugherty reviewed gene: GLRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 GLRA1 Louise Daugherty reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 GFAP Louise Daugherty commented on gene: GFAP: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset movement disorder v0.54 GCH1 Louise Daugherty reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 GCDH Louise Daugherty reviewed gene: GCDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 GBA Louise Daugherty reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 FTL Louise Daugherty reviewed gene: FTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 FOXP2 Louise Daugherty reviewed gene: FOXP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 FBXO7 Louise Daugherty reviewed gene: FBXO7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 FA2H Louise Daugherty reviewed gene: FA2H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 ETHE1 Louise Daugherty reviewed gene: ETHE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 DNAJC6 Louise Daugherty reviewed gene: DNAJC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 DLAT Louise Daugherty reviewed gene: DLAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 DCTN1 Louise Daugherty reviewed gene: DCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 DCAF17 Louise Daugherty reviewed gene: DCAF17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 CSTB Louise Daugherty reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 CSF1R Louise Daugherty reviewed gene: CSF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 CP Louise Daugherty reviewed gene: CP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 COX15 Louise Daugherty reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 COX10 Louise Daugherty reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 COASY Louise Daugherty reviewed gene: COASY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 CIZ1 Louise Daugherty commented on gene: CIZ1: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset movement disorder v0.54 CHMP2B Louise Daugherty reviewed gene: CHMP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 CHCHD2 Louise Daugherty commented on gene: CHCHD2: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset movement disorder v0.54 CACNB4 Louise Daugherty reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 CACNA1A Louise Daugherty reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 C19orf12 Louise Daugherty reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 BCS1L Louise Daugherty reviewed gene: BCS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 BCAP31 Louise Daugherty reviewed gene: BCAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 ATXN1 Louise Daugherty reviewed gene: ATXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 ATP7B Louise Daugherty reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 ATP1A3 Louise Daugherty reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 ATP1A2 Louise Daugherty reviewed gene: ATP1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 ATP13A2 Louise Daugherty reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 ATN1 Louise Daugherty commented on gene: ATN1: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset movement disorder v0.54 ATM Louise Daugherty reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 APTX Louise Daugherty reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 AP1S2 Louise Daugherty reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 ANO3 Louise Daugherty reviewed gene: ANO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 ADCY5 Louise Daugherty reviewed gene: ADCY5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.54 ADAR Louise Daugherty reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 YY1 James Polke reviewed gene: YY1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 XPR1 James Polke reviewed gene: XPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 WDR73 James Polke reviewed gene: WDR73: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 WDR45 James Polke reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 VPS35 James Polke reviewed gene: VPS35: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 VPS13A James Polke reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 VAMP2 James Polke reviewed gene: VAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 VAC14 James Polke reviewed gene: VAC14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 TUBB4A James Polke reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 TUBA1A James Polke reviewed gene: TUBA1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 TOR1A James Polke reviewed gene: TOR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 THAP1 James Polke reviewed gene: THAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 TH James Polke reviewed gene: TH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 TBK1 James Polke reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 TAF1 James Polke reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SYNJ1 James Polke reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SURF1 James Polke reviewed gene: SURF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SUCLG1 James Polke reviewed gene: SUCLG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SUCLA2 James Polke reviewed gene: SUCLA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SPR James Polke reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SPG11 James Polke reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SNCA James Polke reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SLC6A5 James Polke reviewed gene: SLC6A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SLC6A3 James Polke reviewed gene: SLC6A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SLC39A14 James Polke reviewed gene: SLC39A14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SLC30A10 James Polke reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SLC2A1 James Polke reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SLC25A19 James Polke reviewed gene: SLC25A19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SLC20A2 James Polke reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SLC1A3 James Polke reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SLC19A3 James Polke reviewed gene: SLC19A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SGCE James Polke reviewed gene: SGCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SERAC1 James Polke reviewed gene: SERAC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SDHA James Polke reviewed gene: SDHA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SCN8A James Polke reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 SCN1A James Polke reviewed gene: SCN1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 RNF216 James Polke reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 RAB39B James Polke reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 PRRT2 James Polke reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 PRNP James Polke reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 PRKRA James Polke reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 PRKN James Polke reviewed gene: PRKN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 PPP2R2B James Polke reviewed gene: PPP2R2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 PNKD James Polke reviewed gene: PNKD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 PLA2G6 James Polke reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 PINK1 James Polke reviewed gene: PINK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 PDP1 James Polke reviewed gene: PDP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 PDHA1 James Polke reviewed gene: PDHA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 PDGFRB James Polke reviewed gene: PDGFRB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 PDGFB James Polke reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 PDE2A James Polke reviewed gene: PDE2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 PDE10A James Polke reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 PCCB James Polke reviewed gene: PCCB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 PCCA James Polke reviewed gene: PCCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 PARK7 James Polke reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 PANK2 James Polke reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 OPA3 James Polke reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 OCLN James Polke reviewed gene: OCLN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 NKX6-2 James Polke reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 NDUFV1 James Polke reviewed gene: NDUFV1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 NDUFS8 James Polke reviewed gene: NDUFS8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 NDUFS7 James Polke reviewed gene: NDUFS7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 NDUFS4 James Polke reviewed gene: NDUFS4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 NDUFAF6 James Polke reviewed gene: NDUFAF6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 NDUFAF2 James Polke reviewed gene: NDUFAF2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 NDUFA10 James Polke reviewed gene: NDUFA10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 NDUFA1 James Polke reviewed gene: NDUFA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 MT-ND6 James Polke reviewed gene: MT-ND6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 MT-ND1 James Polke reviewed gene: MT-ND1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 MT-ATP6 James Polke reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 MUT James Polke reviewed gene: MUT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 MECR James Polke reviewed gene: MECR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 MAPT James Polke reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 LYST James Polke reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 LRRK2 James Polke reviewed gene: LRRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 KMT2B James Polke reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 KCNQ3 James Polke reviewed gene: KCNQ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 KCNQ2 James Polke reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 KCNK18 James Polke reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 KCNA1 James Polke reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 IVD James Polke reviewed gene: IVD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 ISG15 James Polke reviewed gene: ISG15: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 IFIH1 James Polke reviewed gene: IFIH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 HTRA2 James Polke reviewed gene: HTRA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 HPCA James Polke reviewed gene: HPCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 HIBCH James Polke reviewed gene: HIBCH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 GTPBP2 James Polke reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 GRN James Polke reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 GNAO1 James Polke reviewed gene: GNAO1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 GNAL James Polke reviewed gene: GNAL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 GLRB James Polke reviewed gene: GLRB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 GLRA1 James Polke reviewed gene: GLRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 GFAP James Polke reviewed gene: GFAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 GCH1 James Polke reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 GCDH James Polke reviewed gene: GCDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 GBA James Polke reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 FTL James Polke reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 FOXP2 James Polke reviewed gene: FOXP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 FBXO7 James Polke reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 FA2H James Polke reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 ETHE1 James Polke reviewed gene: ETHE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 DNAJC6 James Polke reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 DLAT James Polke reviewed gene: DLAT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 DCTN1 James Polke reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 DCAF17 James Polke reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 CSTB James Polke reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 CSF1R James Polke reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 CP James Polke reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 COX15 James Polke reviewed gene: COX15: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 COX10 James Polke reviewed gene: COX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 COASY James Polke reviewed gene: COASY: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 CIZ1 James Polke reviewed gene: CIZ1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 CHMP2B James Polke reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 CHCHD2 James Polke reviewed gene: CHCHD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 CACNB4 James Polke reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 CACNA1A James Polke reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 C19orf12 James Polke reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 BCS1L James Polke reviewed gene: BCS1L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 BCAP31 James Polke reviewed gene: BCAP31: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 ATXN1 James Polke reviewed gene: ATXN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 ATP7B James Polke reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 ATP1A3 James Polke reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 ATP1A2 James Polke reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 ATP13A2 James Polke reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 ATN1 James Polke reviewed gene: ATN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 ATM James Polke reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 APTX James Polke reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 AP1S2 James Polke reviewed gene: AP1S2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 ANO3 James Polke reviewed gene: ANO3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 ADCY5 James Polke reviewed gene: ADCY5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 ADAR James Polke reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.52 YY1 Louise Daugherty Source NHS GMS was added to YY1.
Adult onset movement disorder v0.52 XPR1 Louise Daugherty Source NHS GMS was added to XPR1.
Adult onset movement disorder v0.52 WDR73 Louise Daugherty Source NHS GMS was added to WDR73.
Adult onset movement disorder v0.52 WDR45 Louise Daugherty Source NHS GMS was added to WDR45.
Adult onset movement disorder v0.52 VPS35 Louise Daugherty Source NHS GMS was added to VPS35.
Adult onset movement disorder v0.52 VPS13A Louise Daugherty Source NHS GMS was added to VPS13A.
Adult onset movement disorder v0.52 VAMP2 Louise Daugherty Source NHS GMS was added to VAMP2.
Adult onset movement disorder v0.52 VAC14 Louise Daugherty Source NHS GMS was added to VAC14.
Adult onset movement disorder v0.52 TUBB4A Louise Daugherty Source NHS GMS was added to TUBB4A.
Adult onset movement disorder v0.52 TUBA1A Louise Daugherty Source NHS GMS was added to TUBA1A.
Adult onset movement disorder v0.52 TOR1A Louise Daugherty Source NHS GMS was added to TOR1A.
Adult onset movement disorder v0.52 THAP1 Louise Daugherty Source NHS GMS was added to THAP1.
Adult onset movement disorder v0.52 TH Louise Daugherty Source NHS GMS was added to TH.
Adult onset movement disorder v0.52 TBK1 Louise Daugherty Source NHS GMS was added to TBK1.
Adult onset movement disorder v0.52 SYNJ1 Louise Daugherty Source NHS GMS was added to SYNJ1.
Adult onset movement disorder v0.52 SURF1 Louise Daugherty Source NHS GMS was added to SURF1.
Adult onset movement disorder v0.52 SUCLG1 Louise Daugherty Source NHS GMS was added to SUCLG1.
Adult onset movement disorder v0.52 SUCLA2 Louise Daugherty Source NHS GMS was added to SUCLA2.
Adult onset movement disorder v0.52 SPR Louise Daugherty Source NHS GMS was added to SPR.
Adult onset movement disorder v0.52 SPG11 Louise Daugherty Source NHS GMS was added to SPG11.
Adult onset movement disorder v0.52 SNCA Louise Daugherty Source NHS GMS was added to SNCA.
Adult onset movement disorder v0.52 SLC6A5 Louise Daugherty Source NHS GMS was added to SLC6A5.
Adult onset movement disorder v0.52 SLC6A3 Louise Daugherty Source NHS GMS was added to SLC6A3.
Adult onset movement disorder v0.52 SLC39A14 Louise Daugherty Source NHS GMS was added to SLC39A14.
Adult onset movement disorder v0.52 SLC30A10 Louise Daugherty Source NHS GMS was added to SLC30A10.
Adult onset movement disorder v0.52 SLC2A1 Louise Daugherty Source NHS GMS was added to SLC2A1.
Adult onset movement disorder v0.52 SLC25A19 Louise Daugherty Source NHS GMS was added to SLC25A19.
Adult onset movement disorder v0.52 SLC20A2 Louise Daugherty Source NHS GMS was added to SLC20A2.
Adult onset movement disorder v0.52 SLC1A3 Louise Daugherty Source NHS GMS was added to SLC1A3.
Adult onset movement disorder v0.52 SLC19A3 Louise Daugherty Source NHS GMS was added to SLC19A3.
Adult onset movement disorder v0.52 SGCE Louise Daugherty Source NHS GMS was added to SGCE.
Adult onset movement disorder v0.52 SERAC1 Louise Daugherty Source NHS GMS was added to SERAC1.
Adult onset movement disorder v0.52 SDHA Louise Daugherty Source NHS GMS was added to SDHA.
Adult onset movement disorder v0.52 SCN8A Louise Daugherty Source NHS GMS was added to SCN8A.
Adult onset movement disorder v0.52 SCN1A Louise Daugherty Source NHS GMS was added to SCN1A.
Adult onset movement disorder v0.52 RNF216 Louise Daugherty Source NHS GMS was added to RNF216.
Adult onset movement disorder v0.52 RAB39B Louise Daugherty Source NHS GMS was added to RAB39B.
Adult onset movement disorder v0.52 PRRT2 Louise Daugherty Source NHS GMS was added to PRRT2.
Adult onset movement disorder v0.52 PRNP Louise Daugherty Source NHS GMS was added to PRNP.
Adult onset movement disorder v0.52 PRKRA Louise Daugherty Source NHS GMS was added to PRKRA.
Adult onset movement disorder v0.52 PRKN Louise Daugherty Source NHS GMS was added to PRKN.
Adult onset movement disorder v0.52 PPP2R2B Louise Daugherty Source NHS GMS was added to PPP2R2B.
Adult onset movement disorder v0.52 PNKD Louise Daugherty Source NHS GMS was added to PNKD.
Adult onset movement disorder v0.52 PLA2G6 Louise Daugherty Source NHS GMS was added to PLA2G6.
Adult onset movement disorder v0.52 PINK1 Louise Daugherty Source NHS GMS was added to PINK1.
Adult onset movement disorder v0.52 PDP1 Louise Daugherty Source NHS GMS was added to PDP1.
Adult onset movement disorder v0.52 PDHA1 Louise Daugherty Source NHS GMS was added to PDHA1.
Adult onset movement disorder v0.52 PDGFRB Louise Daugherty Source NHS GMS was added to PDGFRB.
Adult onset movement disorder v0.52 PDGFB Louise Daugherty Source NHS GMS was added to PDGFB.
Adult onset movement disorder v0.52 PDE2A Louise Daugherty Source NHS GMS was added to PDE2A.
Adult onset movement disorder v0.52 PDE10A Louise Daugherty Source NHS GMS was added to PDE10A.
Adult onset movement disorder v0.52 PCCB Louise Daugherty Source NHS GMS was added to PCCB.
Adult onset movement disorder v0.52 PCCA Louise Daugherty Source NHS GMS was added to PCCA.
Adult onset movement disorder v0.52 PARK7 Louise Daugherty Source NHS GMS was added to PARK7.
Adult onset movement disorder v0.52 PANK2 Louise Daugherty Source NHS GMS was added to PANK2.
Adult onset movement disorder v0.52 OPA3 Louise Daugherty Source NHS GMS was added to OPA3.
Adult onset movement disorder v0.52 OCLN Louise Daugherty Source NHS GMS was added to OCLN.
Adult onset movement disorder v0.52 NKX6-2 Louise Daugherty Source NHS GMS was added to NKX6-2.
Adult onset movement disorder v0.52 NDUFV1 Louise Daugherty Source NHS GMS was added to NDUFV1.
Adult onset movement disorder v0.52 NDUFS8 Louise Daugherty Source NHS GMS was added to NDUFS8.
Adult onset movement disorder v0.52 NDUFS7 Louise Daugherty Source NHS GMS was added to NDUFS7.
Adult onset movement disorder v0.52 NDUFS4 Louise Daugherty Source NHS GMS was added to NDUFS4.
Adult onset movement disorder v0.52 NDUFAF6 Louise Daugherty Source NHS GMS was added to NDUFAF6.
Adult onset movement disorder v0.52 NDUFAF2 Louise Daugherty Source NHS GMS was added to NDUFAF2.
Adult onset movement disorder v0.52 NDUFA10 Louise Daugherty Source NHS GMS was added to NDUFA10.
Adult onset movement disorder v0.52 NDUFA1 Louise Daugherty Source NHS GMS was added to NDUFA1.
Adult onset movement disorder v0.52 MT-ND6 Louise Daugherty Source NHS GMS was added to MT-ND6.
Adult onset movement disorder v0.52 MT-ND1 Louise Daugherty Source NHS GMS was added to MT-ND1.
Adult onset movement disorder v0.52 MT-ATP6 Louise Daugherty Source NHS GMS was added to MT-ATP6.
Adult onset movement disorder v0.52 MUT Louise Daugherty Source NHS GMS was added to MUT.
Adult onset movement disorder v0.52 MECR Louise Daugherty Source NHS GMS was added to MECR.
Adult onset movement disorder v0.52 MAPT Louise Daugherty Source NHS GMS was added to MAPT.
Adult onset movement disorder v0.52 LYST Louise Daugherty Source NHS GMS was added to LYST.
Adult onset movement disorder v0.52 LRRK2 Louise Daugherty Source NHS GMS was added to LRRK2.
Adult onset movement disorder v0.52 KMT2B Louise Daugherty Source NHS GMS was added to KMT2B.
Adult onset movement disorder v0.52 KCNQ3 Louise Daugherty Source NHS GMS was added to KCNQ3.
Adult onset movement disorder v0.52 KCNQ2 Louise Daugherty Source NHS GMS was added to KCNQ2.
Adult onset movement disorder v0.52 KCNA1 Louise Daugherty Source NHS GMS was added to KCNA1.
Adult onset movement disorder v0.52 IVD Louise Daugherty Source NHS GMS was added to IVD.
Adult onset movement disorder v0.52 ISG15 Louise Daugherty Source NHS GMS was added to ISG15.
Adult onset movement disorder v0.52 IFIH1 Louise Daugherty Source NHS GMS was added to IFIH1.
Adult onset movement disorder v0.52 HTRA2 Louise Daugherty Source NHS GMS was added to HTRA2.
Adult onset movement disorder v0.52 HPCA Louise Daugherty Source NHS GMS was added to HPCA.
Adult onset movement disorder v0.52 HIBCH Louise Daugherty Source NHS GMS was added to HIBCH.
Adult onset movement disorder v0.52 GTPBP2 Louise Daugherty Source NHS GMS was added to GTPBP2.
Adult onset movement disorder v0.52 GRN Louise Daugherty Source NHS GMS was added to GRN.
Adult onset movement disorder v0.52 GNAO1 Louise Daugherty Source NHS GMS was added to GNAO1.
Adult onset movement disorder v0.52 GLRB Louise Daugherty Source NHS GMS was added to GLRB.
Adult onset movement disorder v0.52 GLRA1 Louise Daugherty Source NHS GMS was added to GLRA1.
Adult onset movement disorder v0.52 GCH1 Louise Daugherty Source NHS GMS was added to GCH1.
Adult onset movement disorder v0.52 GCDH Louise Daugherty Source NHS GMS was added to GCDH.
Adult onset movement disorder v0.52 GBA Louise Daugherty Source NHS GMS was added to GBA.
Adult onset movement disorder v0.52 FTL Louise Daugherty Source NHS GMS was added to FTL.
Adult onset movement disorder v0.52 FOXP2 Louise Daugherty Source NHS GMS was added to FOXP2.
Adult onset movement disorder v0.52 FBXO7 Louise Daugherty Source NHS GMS was added to FBXO7.
Adult onset movement disorder v0.52 FA2H Louise Daugherty Source NHS GMS was added to FA2H.
Adult onset movement disorder v0.52 ETHE1 Louise Daugherty Source NHS GMS was added to ETHE1.
Adult onset movement disorder v0.52 DNAJC6 Louise Daugherty Source NHS GMS was added to DNAJC6.
Adult onset movement disorder v0.52 DLAT Louise Daugherty Source NHS GMS was added to DLAT.
Adult onset movement disorder v0.52 DCTN1 Louise Daugherty Source NHS GMS was added to DCTN1.
Adult onset movement disorder v0.52 DCAF17 Louise Daugherty Source NHS GMS was added to DCAF17.
Adult onset movement disorder v0.52 CSTB Louise Daugherty Source NHS GMS was added to CSTB.
Adult onset movement disorder v0.52 CSF1R Louise Daugherty Source NHS GMS was added to CSF1R.
Adult onset movement disorder v0.52 CP Louise Daugherty Source NHS GMS was added to CP.
Adult onset movement disorder v0.52 COX15 Louise Daugherty Source NHS GMS was added to COX15.
Adult onset movement disorder v0.52 COX10 Louise Daugherty Source NHS GMS was added to COX10.
Adult onset movement disorder v0.52 COASY Louise Daugherty Source NHS GMS was added to COASY.
Adult onset movement disorder v0.52 CHMP2B Louise Daugherty Source NHS GMS was added to CHMP2B.
Adult onset movement disorder v0.52 CACNB4 Louise Daugherty Source NHS GMS was added to CACNB4.
Adult onset movement disorder v0.52 CACNA1A Louise Daugherty Source NHS GMS was added to CACNA1A.
Adult onset movement disorder v0.52 C19orf12 Louise Daugherty Source NHS GMS was added to C19orf12.
Adult onset movement disorder v0.52 BCS1L Louise Daugherty Source NHS GMS was added to BCS1L.
Adult onset movement disorder v0.52 BCAP31 Louise Daugherty Source NHS GMS was added to BCAP31.
Adult onset movement disorder v0.52 ATXN1 Louise Daugherty Source NHS GMS was added to ATXN1.
Adult onset movement disorder v0.52 ATP7B Louise Daugherty Source NHS GMS was added to ATP7B.
Adult onset movement disorder v0.52 ATP1A3 Louise Daugherty Source NHS GMS was added to ATP1A3.
Adult onset movement disorder v0.52 ATP1A2 Louise Daugherty Source NHS GMS was added to ATP1A2.
Adult onset movement disorder v0.52 ATP13A2 Louise Daugherty Source NHS GMS was added to ATP13A2.
Adult onset movement disorder v0.52 ATM Louise Daugherty Source NHS GMS was added to ATM.
Adult onset movement disorder v0.52 APTX Louise Daugherty Source NHS GMS was added to APTX.
Adult onset movement disorder v0.52 AP1S2 Louise Daugherty Source NHS GMS was added to AP1S2.
Adult onset movement disorder v0.52 ANO3 Louise Daugherty Source NHS GMS was added to ANO3.
Adult onset movement disorder v0.52 ADCY5 Louise Daugherty Source NHS GMS was added to ADCY5.
Adult onset movement disorder v0.52 ADAR Louise Daugherty Source NHS GMS was added to ADAR.
Adult onset movement disorder v0.51 MUT Louise Daugherty commented on gene: MUT
Adult onset movement disorder v0.51 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Adult onset movement disorder v0.51 YY1 Louise Daugherty Source London North GLH was added to YY1.
Adult onset movement disorder v0.51 XPR1 Louise Daugherty Source London North GLH was added to XPR1.
Adult onset movement disorder v0.51 WDR73 Louise Daugherty Source London North GLH was added to WDR73.
Adult onset movement disorder v0.51 WDR45 Louise Daugherty Source London North GLH was added to WDR45.
Adult onset movement disorder v0.51 VPS35 Louise Daugherty Source London North GLH was added to VPS35.
Adult onset movement disorder v0.51 VPS13A Louise Daugherty Source London North GLH was added to VPS13A.
Adult onset movement disorder v0.51 VAMP2 Louise Daugherty gene: VAMP2 was added
gene: VAMP2 was added to Adult onset movement disorder. Sources: London North GLH
Mode of inheritance for gene: VAMP2 was set to
Adult onset movement disorder v0.51 VAC14 Louise Daugherty Source London North GLH was added to VAC14.
Adult onset movement disorder v0.51 TUBB4A Louise Daugherty Source London North GLH was added to TUBB4A.
Adult onset movement disorder v0.51 TUBA1A Louise Daugherty Source London North GLH was added to TUBA1A.
Adult onset movement disorder v0.51 TOR1A Louise Daugherty Source London North GLH was added to TOR1A.
Adult onset movement disorder v0.51 THAP1 Louise Daugherty Source London North GLH was added to THAP1.
Adult onset movement disorder v0.51 TH Louise Daugherty Source London North GLH was added to TH.
Adult onset movement disorder v0.51 TBK1 Louise Daugherty gene: TBK1 was added
gene: TBK1 was added to Adult onset movement disorder. Sources: London North GLH
Mode of inheritance for gene: TBK1 was set to
Adult onset movement disorder v0.51 TAF1 Louise Daugherty Source London North GLH was added to TAF1.
Adult onset movement disorder v0.51 SYNJ1 Louise Daugherty Source London North GLH was added to SYNJ1.
Adult onset movement disorder v0.51 SURF1 Louise Daugherty Source London North GLH was added to SURF1.
Adult onset movement disorder v0.51 SUCLG1 Louise Daugherty Source London North GLH was added to SUCLG1.
Adult onset movement disorder v0.51 SUCLA2 Louise Daugherty Source London North GLH was added to SUCLA2.
Adult onset movement disorder v0.51 SPR Louise Daugherty Source London North GLH was added to SPR.
Adult onset movement disorder v0.51 SPG11 Louise Daugherty Source London North GLH was added to SPG11.
Adult onset movement disorder v0.51 SNCA Louise Daugherty Source London North GLH was added to SNCA.
Adult onset movement disorder v0.51 SLC6A5 Louise Daugherty Source London North GLH was added to SLC6A5.
Adult onset movement disorder v0.51 SLC6A3 Louise Daugherty Source London North GLH was added to SLC6A3.
Adult onset movement disorder v0.51 SLC39A14 Louise Daugherty Source London North GLH was added to SLC39A14.
Adult onset movement disorder v0.51 SLC30A10 Louise Daugherty Source London North GLH was added to SLC30A10.
Adult onset movement disorder v0.51 SLC2A1 Louise Daugherty Source London North GLH was added to SLC2A1.
Adult onset movement disorder v0.51 SLC25A19 Louise Daugherty Source London North GLH was added to SLC25A19.
Adult onset movement disorder v0.51 SLC20A2 Louise Daugherty Source London North GLH was added to SLC20A2.
Adult onset movement disorder v0.51 SLC1A3 Louise Daugherty Source London North GLH was added to SLC1A3.
Adult onset movement disorder v0.51 SLC19A3 Louise Daugherty Source London North GLH was added to SLC19A3.
Adult onset movement disorder v0.51 SGCE Louise Daugherty Source London North GLH was added to SGCE.
Adult onset movement disorder v0.51 SERAC1 Louise Daugherty Source London North GLH was added to SERAC1.
Adult onset movement disorder v0.51 SDHA Louise Daugherty Source London North GLH was added to SDHA.
Adult onset movement disorder v0.51 SCN8A Louise Daugherty Source London North GLH was added to SCN8A.
Adult onset movement disorder v0.51 SCN1A Louise Daugherty Source London North GLH was added to SCN1A.
Adult onset movement disorder v0.51 RNF216 Louise Daugherty gene: RNF216 was added
gene: RNF216 was added to Adult onset movement disorder. Sources: London North GLH
Mode of inheritance for gene: RNF216 was set to
Adult onset movement disorder v0.51 RAB39B Louise Daugherty Source London North GLH was added to RAB39B.
Adult onset movement disorder v0.51 PRRT2 Louise Daugherty Source London North GLH was added to PRRT2.
Adult onset movement disorder v0.51 PRNP Louise Daugherty Source London North GLH was added to PRNP.
Adult onset movement disorder v0.51 PRKRA Louise Daugherty Source London North GLH was added to PRKRA.
Adult onset movement disorder v0.51 PRKN Louise Daugherty Source London North GLH was added to PRKN.
Adult onset movement disorder v0.51 PPP2R2B Louise Daugherty gene: PPP2R2B was added
gene: PPP2R2B was added to Adult onset movement disorder. Sources: London North GLH
Mode of inheritance for gene: PPP2R2B was set to
Adult onset movement disorder v0.51 PNKD Louise Daugherty Source London North GLH was added to PNKD.
Adult onset movement disorder v0.51 PLA2G6 Louise Daugherty Source London North GLH was added to PLA2G6.
Adult onset movement disorder v0.51 PINK1 Louise Daugherty Source London North GLH was added to PINK1.
Adult onset movement disorder v0.51 PDP1 Louise Daugherty Source London North GLH was added to PDP1.
Adult onset movement disorder v0.51 PDHA1 Louise Daugherty Source London North GLH was added to PDHA1.
Adult onset movement disorder v0.51 PDGFRB Louise Daugherty Source London North GLH was added to PDGFRB.
Adult onset movement disorder v0.51 PDGFB Louise Daugherty Source London North GLH was added to PDGFB.
Adult onset movement disorder v0.51 PDE2A Louise Daugherty gene: PDE2A was added
gene: PDE2A was added to Adult onset movement disorder. Sources: London North GLH
Mode of inheritance for gene: PDE2A was set to
Adult onset movement disorder v0.51 PDE10A Louise Daugherty Source London North GLH was added to PDE10A.
Adult onset movement disorder v0.51 PCCB Louise Daugherty Source London North GLH was added to PCCB.
Adult onset movement disorder v0.51 PCCA Louise Daugherty Source London North GLH was added to PCCA.
Adult onset movement disorder v0.51 PARK7 Louise Daugherty Source London North GLH was added to PARK7.
Adult onset movement disorder v0.51 PANK2 Louise Daugherty Source London North GLH was added to PANK2.
Adult onset movement disorder v0.51 OPA3 Louise Daugherty Source London North GLH was added to OPA3.
Adult onset movement disorder v0.51 OCLN Louise Daugherty Source London North GLH was added to OCLN.
Adult onset movement disorder v0.51 NKX6-2 Louise Daugherty Source London North GLH was added to NKX6-2.
Adult onset movement disorder v0.51 NDUFV1 Louise Daugherty Source London North GLH was added to NDUFV1.
Adult onset movement disorder v0.51 NDUFS8 Louise Daugherty Source London North GLH was added to NDUFS8.
Adult onset movement disorder v0.51 NDUFS7 Louise Daugherty Source London North GLH was added to NDUFS7.
Adult onset movement disorder v0.51 NDUFS4 Louise Daugherty Source London North GLH was added to NDUFS4.
Adult onset movement disorder v0.51 NDUFAF6 Louise Daugherty Source London North GLH was added to NDUFAF6.
Adult onset movement disorder v0.51 NDUFAF2 Louise Daugherty Source London North GLH was added to NDUFAF2.
Adult onset movement disorder v0.51 NDUFA10 Louise Daugherty Source London North GLH was added to NDUFA10.
Adult onset movement disorder v0.51 NDUFA1 Louise Daugherty Source London North GLH was added to NDUFA1.
Adult onset movement disorder v0.51 MT-ND6 Louise Daugherty Source London North GLH was added to MT-ND6.
Adult onset movement disorder v0.51 MT-ND1 Louise Daugherty Source London North GLH was added to MT-ND1.
Adult onset movement disorder v0.51 MT-ATP6 Louise Daugherty Source London North GLH was added to MT-ATP6.
Adult onset movement disorder v0.51 MUT Louise Daugherty Source London North GLH was added to MUT.
Adult onset movement disorder v0.51 MECR Louise Daugherty Source London North GLH was added to MECR.
Adult onset movement disorder v0.51 MAPT Louise Daugherty Source London North GLH was added to MAPT.
Adult onset movement disorder v0.51 LYST Louise Daugherty Source London North GLH was added to LYST.
Adult onset movement disorder v0.51 LRRK2 Louise Daugherty Source London North GLH was added to LRRK2.
Adult onset movement disorder v0.51 KMT2B Louise Daugherty Source London North GLH was added to KMT2B.
Adult onset movement disorder v0.51 KCNQ3 Louise Daugherty Source London North GLH was added to KCNQ3.
Adult onset movement disorder v0.51 KCNQ2 Louise Daugherty Source London North GLH was added to KCNQ2.
Adult onset movement disorder v0.51 KCNK18 Louise Daugherty Source London North GLH was added to KCNK18.
Adult onset movement disorder v0.51 KCNA1 Louise Daugherty Source London North GLH was added to KCNA1.
Adult onset movement disorder v0.51 IVD Louise Daugherty Source London North GLH was added to IVD.
Adult onset movement disorder v0.51 ISG15 Louise Daugherty Source London North GLH was added to ISG15.
Adult onset movement disorder v0.51 IFIH1 Louise Daugherty Source London North GLH was added to IFIH1.
Adult onset movement disorder v0.51 HTRA2 Louise Daugherty Source London North GLH was added to HTRA2.
Adult onset movement disorder v0.51 HPCA Louise Daugherty Source London North GLH was added to HPCA.
Adult onset movement disorder v0.51 HIBCH Louise Daugherty Source London North GLH was added to HIBCH.
Adult onset movement disorder v0.51 GTPBP2 Louise Daugherty gene: GTPBP2 was added
gene: GTPBP2 was added to Adult onset movement disorder. Sources: London North GLH
Mode of inheritance for gene: GTPBP2 was set to
Adult onset movement disorder v0.51 GRN Louise Daugherty Source London North GLH was added to GRN.
Adult onset movement disorder v0.51 GNAO1 Louise Daugherty Source London North GLH was added to GNAO1.
Adult onset movement disorder v0.51 GNAL Louise Daugherty Source London North GLH was added to GNAL.
Adult onset movement disorder v0.51 GLRB Louise Daugherty Source London North GLH was added to GLRB.
Adult onset movement disorder v0.51 GLRA1 Louise Daugherty Source London North GLH was added to GLRA1.
Adult onset movement disorder v0.51 GFAP Louise Daugherty Source London North GLH was added to GFAP.
Adult onset movement disorder v0.51 GCH1 Louise Daugherty Source London North GLH was added to GCH1.
Adult onset movement disorder v0.51 GCDH Louise Daugherty Source London North GLH was added to GCDH.
Adult onset movement disorder v0.51 GBA Louise Daugherty Source London North GLH was added to GBA.
Adult onset movement disorder v0.51 FTL Louise Daugherty Source London North GLH was added to FTL.
Adult onset movement disorder v0.51 FOXP2 Louise Daugherty Source London North GLH was added to FOXP2.
Adult onset movement disorder v0.51 FBXO7 Louise Daugherty Source London North GLH was added to FBXO7.
Adult onset movement disorder v0.51 FA2H Louise Daugherty Source London North GLH was added to FA2H.
Adult onset movement disorder v0.51 ETHE1 Louise Daugherty Source London North GLH was added to ETHE1.
Adult onset movement disorder v0.51 DNAJC6 Louise Daugherty Source London North GLH was added to DNAJC6.
Adult onset movement disorder v0.51 DLAT Louise Daugherty Source London North GLH was added to DLAT.
Adult onset movement disorder v0.51 DCTN1 Louise Daugherty Source London North GLH was added to DCTN1.
Adult onset movement disorder v0.51 DCAF17 Louise Daugherty Source London North GLH was added to DCAF17.
Adult onset movement disorder v0.51 CSTB Louise Daugherty Source London North GLH was added to CSTB.
Adult onset movement disorder v0.51 CSF1R Louise Daugherty Source London North GLH was added to CSF1R.
Adult onset movement disorder v0.51 CP Louise Daugherty Source London North GLH was added to CP.
Adult onset movement disorder v0.51 COX15 Louise Daugherty Source London North GLH was added to COX15.
Adult onset movement disorder v0.51 COX10 Louise Daugherty Source London North GLH was added to COX10.
Adult onset movement disorder v0.51 COASY Louise Daugherty Source London North GLH was added to COASY.
Adult onset movement disorder v0.51 CIZ1 Louise Daugherty Source London North GLH was added to CIZ1.
Adult onset movement disorder v0.51 CHMP2B Louise Daugherty Source London North GLH was added to CHMP2B.
Adult onset movement disorder v0.51 CHCHD2 Louise Daugherty Source London North GLH was added to CHCHD2.
Adult onset movement disorder v0.51 CACNB4 Louise Daugherty Source London North GLH was added to CACNB4.
Adult onset movement disorder v0.51 CACNA1A Louise Daugherty Source London North GLH was added to CACNA1A.
Adult onset movement disorder v0.51 C19orf12 Louise Daugherty Source London North GLH was added to C19orf12.
Adult onset movement disorder v0.51 BCS1L Louise Daugherty Source London North GLH was added to BCS1L.
Adult onset movement disorder v0.51 BCAP31 Louise Daugherty Source London North GLH was added to BCAP31.
Adult onset movement disorder v0.51 ATXN1 Louise Daugherty gene: ATXN1 was added
gene: ATXN1 was added to Adult onset movement disorder. Sources: London North GLH
Mode of inheritance for gene: ATXN1 was set to
Adult onset movement disorder v0.51 ATP7B Louise Daugherty Source London North GLH was added to ATP7B.
Adult onset movement disorder v0.51 ATP1A3 Louise Daugherty Source London North GLH was added to ATP1A3.
Adult onset movement disorder v0.51 ATP1A2 Louise Daugherty Source London North GLH was added to ATP1A2.
Adult onset movement disorder v0.51 ATP13A2 Louise Daugherty Source London North GLH was added to ATP13A2.
Adult onset movement disorder v0.51 ATN1 Louise Daugherty Source London North GLH was added to ATN1.
Adult onset movement disorder v0.51 ATM Louise Daugherty Source London North GLH was added to ATM.
Adult onset movement disorder v0.51 APTX Louise Daugherty Source London North GLH was added to APTX.
Adult onset movement disorder v0.51 AP1S2 Louise Daugherty Source London North GLH was added to AP1S2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset movement disorder v0.51 ANO3 Louise Daugherty Source London North GLH was added to ANO3.
Adult onset movement disorder v0.51 ADCY5 Louise Daugherty Source London North GLH was added to ADCY5.
Adult onset movement disorder v0.51 ADAR Louise Daugherty Source London North GLH was added to ADAR.
Adult onset movement disorder v0.50 VPS37A Louise Daugherty reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 UCHL1 Louise Daugherty reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 TREX1 Louise Daugherty reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 TREM2 Louise Daugherty reviewed gene: TREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 TPK1 Louise Daugherty reviewed gene: TPK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 TIMM8A Louise Daugherty reviewed gene: TIMM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 TBP Louise Daugherty reviewed gene: TBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 TAF1 Louise Daugherty reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 SUOX Louise Daugherty reviewed gene: SUOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 SNCAIP Louise Daugherty reviewed gene: SNCAIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 SLC46A1 Louise Daugherty reviewed gene: SLC46A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 SLC41A1 Louise Daugherty reviewed gene: SLC41A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 SDHAF1 Louise Daugherty reviewed gene: SDHAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 SCP2 Louise Daugherty reviewed gene: SCP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 SCN9A Louise Daugherty reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 SAMHD1 Louise Daugherty reviewed gene: SAMHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 RNASEH2C Louise Daugherty reviewed gene: RNASEH2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 RNASEH2B Louise Daugherty reviewed gene: RNASEH2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 RNASEH2A Louise Daugherty reviewed gene: RNASEH2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 QDPR Louise Daugherty reviewed gene: QDPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 PTS Louise Daugherty reviewed gene: PTS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 PTEN Louise Daugherty reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 PSEN1 Louise Daugherty reviewed gene: PSEN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 PNPT1 Louise Daugherty reviewed gene: PNPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 PLP1 Louise Daugherty reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 PDX1 Louise Daugherty reviewed gene: PDX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 PDHX Louise Daugherty reviewed gene: PDHX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 PCDH12 Louise Daugherty reviewed gene: PCDH12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 NUP62 Louise Daugherty reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 NR4A2 Louise Daugherty reviewed gene: NR4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 NPC2 Louise Daugherty reviewed gene: NPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 NKX2-1 Louise Daugherty reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 NDUFS3 Louise Daugherty reviewed gene: NDUFS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 NDUFA9 Louise Daugherty reviewed gene: NDUFA9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 NDUFA2 Louise Daugherty reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 NDUFA12 Louise Daugherty reviewed gene: NDUFA12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 MR1 Louise Daugherty reviewed gene: MR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 MPV17 Louise Daugherty reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 MMADHC Louise Daugherty reviewed gene: MMADHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 MCOLN1 Louise Daugherty reviewed gene: MCOLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 MAT1A Louise Daugherty reviewed gene: MAT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 L2HGDH Louise Daugherty reviewed gene: L2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 KCNK18 Louise Daugherty reviewed gene: KCNK18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 JPH3 Louise Daugherty reviewed gene: JPH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 IPPK Louise Daugherty reviewed gene: IPPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 HTT Louise Daugherty reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 HPRT1 Louise Daugherty reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 HEXA Louise Daugherty reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 GNAL Louise Daugherty reviewed gene: GNAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 GIGYF2 Louise Daugherty reviewed gene: GIGYF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 GFAP Louise Daugherty reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 GAMT Louise Daugherty reviewed gene: GAMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 FOXRED1 Louise Daugherty reviewed gene: FOXRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 FOXG1 Louise Daugherty reviewed gene: FOXG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 FASTKD2 Louise Daugherty reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 ERCC6 Louise Daugherty reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 EIF4G1 Louise Daugherty reviewed gene: EIF4G1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 EARS2 Louise Daugherty reviewed gene: EARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 DRD5 Louise Daugherty reviewed gene: DRD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 DRD2 Louise Daugherty reviewed gene: DRD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 DDC Louise Daugherty reviewed gene: DDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 DCAF10 Louise Daugherty reviewed gene: DCAF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 CYP27A1 Louise Daugherty reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 CIZ1 Louise Daugherty reviewed gene: CIZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 CHCHD2 Louise Daugherty reviewed gene: CHCHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 C9orf72 Louise Daugherty reviewed gene: C9orf72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 BDNF Louise Daugherty reviewed gene: BDNF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 AUH Louise Daugherty reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 ATXN3 Louise Daugherty reviewed gene: ATXN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 ATXN2 Louise Daugherty reviewed gene: ATXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 ATP6AP2 Louise Daugherty reviewed gene: ATP6AP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 ATN1 Louise Daugherty reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 ARX Louise Daugherty reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 ARSA Louise Daugherty reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 AIFM1 Louise Daugherty reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 AFG3L2 Louise Daugherty reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.50 ACTB Louise Daugherty reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.49 VPS37A Emily Jones reviewed gene: VPS37A: Rating: RED; Mode of pathogenicity: ; Publications: 22717650; Phenotypes: Spastic paraplegia 53, autosomal recessive, 614898; Mode of inheritance:
Adult onset movement disorder v0.49 UCHL1 Emily Jones reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 10048490, 28007905 , 29735986, 23359680 ; Phenotypes: Spastic paraplegia 79, autosomal recessive, 615491, ?{Parkinson disease 5, susceptibility to}, 613643; Mode of inheritance:
Adult onset movement disorder v0.49 TREX1 Emily Jones reviewed gene: TREX1: Rating: RED; Mode of pathogenicity: ; Publications: 25582466; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, 225750, Vasculopathy, retinal, with cerebral leukodystrophy, 192315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.49 TREM2 Emily Jones reviewed gene: TREM2: Rating: RED; Mode of pathogenicity: ; Publications: 26891767; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193, Alzheimers disease, Frontotemporal dementia; Mode of inheritance:
Adult onset movement disorder v0.49 TPK1 Emily Jones reviewed gene: TPK1: Rating: RED; Mode of pathogenicity: ; Publications: 28431625; Phenotypes: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458; Mode of inheritance:
Adult onset movement disorder v0.49 TIMM8A Emily Jones reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 22736418; Phenotypes: Mohr-Tranebjaerg syndrome, 304700; Mode of inheritance:
Adult onset movement disorder v0.49 TBP Emily Jones reviewed gene: TBP: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Mohr-Tranebjaerg syndrome, 304700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset movement disorder v0.49 TAF1 Emily Jones reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 12928496, http://www.ncbi.nlm.nih.gov/books/NBK1155/, 26637982, 26879577, 26637982, 17668393, 17273961, 12928496, 17273961, 23184149, 2368812, 20301662, 26769797; Phenotypes: SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250, Dystonia-Parkinsonism, X-linked, 314250, (NB complex mutation); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset movement disorder v0.49 SUOX Emily Jones reviewed gene: SUOX: Rating: RED; Mode of pathogenicity: ; Publications: 28933809; Phenotypes: Sulfite oxidase deficiency, 272300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.49 SNCAIP Emily Jones reviewed gene: SNCAIP: Rating: RED; Mode of pathogenicity: ; Publications: 18366718, 21344240; Phenotypes: Parkinson Disease, Dominant/Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.49 SLC46A1 Emily Jones reviewed gene: SLC46A1: Rating: RED; Mode of pathogenicity: ; Publications: 20301716; Phenotypes: Folate malabsorption, hereditary, 229050; Mode of inheritance:
Adult onset movement disorder v0.49 SLC41A1 Emily Jones reviewed gene: SLC41A1: Rating: RED; Mode of pathogenicity: ; Publications: 24661466, 27612022, 26308152, 21812739, 20683486; Phenotypes: Parkinson disease (Yan (2011) Int J Neurosci 121,632); Mode of inheritance:
Adult onset movement disorder v0.49 SDHAF1 Emily Jones reviewed gene: SDHAF1: Rating: RED; Mode of pathogenicity: ; Publications: 27683074, 23322652; Phenotypes: Mitochondrial complex II deficiency, 252011; Mode of inheritance:
Adult onset movement disorder v0.49 SCP2 Emily Jones reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: ; Publications: 16685654, 26497993; Phenotypes: ?Leukoencephalopathy with dystonia and motor neuropathy, 613724; Mode of inheritance:
Adult onset movement disorder v0.49 SCN9A Emily Jones reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Paroxysmal extreme pain disorder, 167400, Congenital Indifference to Pain, Paroxysmal Extreme Pain Disorder, Hereditary Sensory Neuropathy, Febrile seizures, familial, 3B, 613863, Dysosteosclerosis, Epilepsy, generalized, with febrile seizures plus, type 7, 613863, Insensitivity to pain, channelopathy-associated, 243000, Erythermalgia, primary, 133020, Erythermalgia, Primary; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset movement disorder v0.49 SAMHD1 Emily Jones reviewed gene: SAMHD1: Rating: RED; Mode of pathogenicity: ; Publications: 20842748, 25604658; Phenotypes: Aicardi-Goutieres syndrome 5, 612952; Mode of inheritance:
Adult onset movement disorder v0.49 RNASEH2C Emily Jones reviewed gene: RNASEH2C: Rating: RED; Mode of pathogenicity: ; Publications: 16845400, 25604658, 17846997; Phenotypes: Aicardi-Goutieres syndrome 3, 610329; Mode of inheritance:
Adult onset movement disorder v0.49 RNASEH2B Emily Jones reviewed gene: RNASEH2B: Rating: RED; Mode of pathogenicity: ; Publications: 16845400, 25604658, 17846997; Phenotypes: Aicardi-Goutieres syndrome 2, 610181; Mode of inheritance:
Adult onset movement disorder v0.49 RNASEH2A Emily Jones reviewed gene: RNASEH2A: Rating: RED; Mode of pathogenicity: ; Publications: 16845400, 25604658, 17846997; Phenotypes: Aicardi-Goutieres syndrome 4, 610333; Mode of inheritance:
Adult onset movement disorder v0.49 QDPR Emily Jones reviewed gene: QDPR: Rating: AMBER; Mode of pathogenicity: ; Publications: 10677304, 26919687, 19491146 ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, 261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.49 PTS Emily Jones reviewed gene: PTS: Rating: AMBER; Mode of pathogenicity: ; Publications: 26919687; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, 261640; Mode of inheritance:
Adult onset movement disorder v0.49 PTEN Emily Jones reviewed gene: PTEN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cowden syndrome 1, 158350, Lhermitte-Duclos syndrome, 158350, Macrocephaly/autism syndrome, 605309, VATER association with macrocephaly and ventriculomegaly, 276950; Mode of inheritance:
Adult onset movement disorder v0.49 PSEN1 Emily Jones reviewed gene: PSEN1: Rating: RED; Mode of pathogenicity: ; Publications: 28664294, 29316780; Phenotypes: Alzheimer disease, type 3, 607822, Cardiomyopathy, dilated, 1U, 613694, Dementia, frontotemporal 600274, Pick disease, 172700; Mode of inheritance:
Adult onset movement disorder v0.49 PNPT1 Emily Jones reviewed gene: PNPT1: Rating: RED; Mode of pathogenicity: ; Publications: 23084291, 30046113; Phenotypes: Combined oxidative phosphorylation deficiency 13, 614932; Mode of inheritance:
Adult onset movement disorder v0.49 PLP1 Emily Jones reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 30046645, 11093273 ; Phenotypes: Pelizaeus-Merzbacher disease, 312080, Spastic paraplegia 2, X-linked, 312920; Mode of inheritance:
Adult onset movement disorder v0.49 PDX1 Emily Jones reviewed gene: PDX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MODY, type IV 606392, Pancreatic agenesis 1 260370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.49 PDHX Emily Jones reviewed gene: PDHX: Rating: RED; Mode of pathogenicity: ; Publications: 20002125, 25087164; Phenotypes: Lacticacidemia due to PDX1 deficiency, 245349; Mode of inheritance:
Adult onset movement disorder v0.49 PCDH12 Emily Jones reviewed gene: PCDH12: Rating: RED; Mode of pathogenicity: ; Publications: 30459466; Phenotypes: microcephaly, epilepsy, midbrain abnormalities, intellectual disability, hypothalamic abnormalities, perithalamic hyperechogenicity, periventricular hyperechogenicity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.49 NUP62 Emily Jones reviewed gene: NUP62: Rating: RED; Mode of pathogenicity: ; Publications: 16786527, 14718703, 12374138; Phenotypes: Striatonigral degeneration, infantile 271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.49 NR4A2 Emily Jones reviewed gene: NR4A2: Rating: RED; Mode of pathogenicity: ; Publications: 15184637, 12496759, 15276233, 12827450, 27012974, 24126627, 15390059, 25543265; Phenotypes: Parkinson Disease, Dominant/Recessive (susceptibility to); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.49 NPC2 Emily Jones reviewed gene: NPC2: Rating: RED; Mode of pathogenicity: ; Publications: 11567215; Phenotypes: Niemann-pick disease, type C2, 607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.49 NKX2-1 Emily Jones reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24555207, 24714694 ; Phenotypes: Chorea, hereditary benign 118700, Choreoathetosis, hypothyroidism, and neonatal respiratory distress; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset movement disorder v0.49 NDUFS3 Emily Jones reviewed gene: NDUFS3: Rating: RED; Mode of pathogenicity: ; Publications: 14729820, 19167255; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8, 618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.49 NDUFA9 Emily Jones reviewed gene: NDUFA9: Rating: RED; Mode of pathogenicity: ; Publications: 22114105, 28671271; Phenotypes: Mitochondrial complex I deficiency, nuclear type 26, 618247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.49 NDUFA2 Emily Jones reviewed gene: NDUFA2: Rating: RED; Mode of pathogenicity: ; Publications: 18513682, 28857146, 27159321; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.49 NDUFA12 Emily Jones reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: ; Publications: 21617257; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 23, 618244 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.49 MR1 Emily Jones reviewed gene: MR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset movement disorder v0.49 MPV17 Emily Jones reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: ; Publications: 22593919; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Mode of inheritance:
Adult onset movement disorder v0.49 MMADHC Emily Jones reviewed gene: MMADHC: Rating: RED; Mode of pathogenicity: ; Publications: 20301503; Phenotypes: Homocystinuria, cblD type, variant 1, Methylmalonic aciduria, cblD type, variant 2, Methylmalonic aciduria and homocystinuria, cblD type, 277410; Mode of inheritance:
Adult onset movement disorder v0.49 MCOLN1 Emily Jones reviewed gene: MCOLN1: Rating: RED; Mode of pathogenicity: ; Publications: 29449188; Phenotypes: Mucolipidosis IV, 252650; Mode of inheritance:
Adult onset movement disorder v0.49 MAT1A Emily Jones reviewed gene: MAT1A: Rating: RED; Mode of pathogenicity: ; Publications: 26289392; Phenotypes: Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850; Mode of inheritance:
Adult onset movement disorder v0.49 L2HGDH Emily Jones reviewed gene: L2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: 18780161; Phenotypes: L-2-hydroxyglutaric aciduria, 236792; Mode of inheritance:
Adult onset movement disorder v0.49 KCNK18 Emily Jones reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: 20871611, 22355750; Phenotypes: MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; Mode of inheritance:
Adult onset movement disorder v0.49 JPH3 Emily Jones reviewed gene: JPH3: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Huntington disease-like 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset movement disorder v0.49 IPPK Emily Jones reviewed gene: IPPK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.49 HTT Emily Jones reviewed gene: HTT: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Huntington disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset movement disorder v0.49 HPRT1 Emily Jones reviewed gene: HPRT1: Rating: RED; Mode of pathogenicity: ; Publications: 20176575; Phenotypes: Lesch-Nyhan syndrome, 300322; Mode of inheritance:
Adult onset movement disorder v0.49 HEXA Emily Jones reviewed gene: HEXA: Rating: RED; Mode of pathogenicity: ; Publications: 20301397, 18642377; Phenotypes: GM2-gangliosidosis, several forms 272800, Tay-Sachs disease 272800, Hex A pseudodeficiency 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.49 GNAL Emily Jones reviewed gene: GNAL: Rating: GREEN; Mode of pathogenicity: ; Publications: 23222958, 27093447, 27222887, 24729450, 26725140, 23759320, 27123488, 24151159, 23449625, 25847575, 26810727, 24408567, http://www.ncbi.nlm.nih.gov/books/NBK1155/, 26365774, 26506956, 25382112, 24535567; Phenotypes: Dystonia 25, 615073, adult-onset cranio-cervical dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset movement disorder v0.49 GIGYF2 Emily Jones reviewed gene: GIGYF2: Rating: RED; Mode of pathogenicity: ; Publications: 19279319, 18358451, 19250854, 201788319, 18923002, 20060621, 20685231, 19482505, 19449032, 19321232, 26134514, 19429085, 20044296; Phenotypes: {Parkinson disease 11}, Susceptibility to Parkinson disease 11, 607688; Mode of inheritance:
Adult onset movement disorder v0.49 GFAP Emily Jones reviewed gene: GFAP: Rating: RED; Mode of pathogenicity: ; Publications: 15732098, 14557587; Phenotypes: Alexander disease 203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset movement disorder v0.49 GAMT Emily Jones reviewed gene: GAMT: Rating: RED; Mode of pathogenicity: ; Publications: 24268530; Phenotypes: Cerebral creatine deficiency syndrome 2, 612736; Mode of inheritance:
Adult onset movement disorder v0.49 FOXRED1 Emily Jones reviewed gene: FOXRED1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19, 618241; Mode of inheritance:
Adult onset movement disorder v0.49 FOXG1 Emily Jones reviewed gene: FOXG1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29086067, 27029630 ; Phenotypes: Rett Syndrome, congenital variant, 613454; Mode of inheritance:
Adult onset movement disorder v0.49 FASTKD2 Emily Jones reviewed gene: FASTKD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance:
Adult onset movement disorder v0.49 ERCC6 Emily Jones reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance:
Adult onset movement disorder v0.49 EIF4G1 Emily Jones reviewed gene: EIF4G1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25368108; Phenotypes: Parkinsons disease 18, 614251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset movement disorder v0.49 EARS2 Emily Jones reviewed gene: EARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 12, 614924; Mode of inheritance:
Adult onset movement disorder v0.49 DRD5 Emily Jones reviewed gene: DRD5: Rating: RED; Mode of pathogenicity: ; Publications: 17133500, 12700316; Phenotypes: {Blepharospasm, primary benign}, 606798; Mode of inheritance:
Adult onset movement disorder v0.49 DRD2 Emily Jones reviewed gene: DRD2: Rating: RED; Mode of pathogenicity: ; Publications: 20301587; Phenotypes: Dystonia, myoclonic, 159900; Mode of inheritance:
Adult onset movement disorder v0.49 DDC Emily Jones reviewed gene: DDC: Rating: AMBER; Mode of pathogenicity: ; Publications: 19172410; Phenotypes: Aromatic L-amino acid decarboxylase deficiency, 608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.49 DCAF10 Emily Jones reviewed gene: DCAF10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.49 CYP27A1 Emily Jones reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24442603; Phenotypes: Cerebrotendinous xanthomatosis, CTX, 213700; Mode of inheritance:
Adult onset movement disorder v0.49 CIZ1 Emily Jones reviewed gene: CIZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: 22447717; Phenotypes: Dystonia 23, 614860; Mode of inheritance:
Adult onset movement disorder v0.49 CHCHD2 Emily Jones reviewed gene: CHCHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616710, Parkinson disease 22, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset movement disorder v0.49 C9orf72 Emily Jones reviewed gene: C9orf72: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: 25326098, 25326098; Phenotypes: (Hexanucleotideexpansion), complex parkinsonism, clinical presentation suggestive of cortico-basal/PSP syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset movement disorder v0.49 BDNF Emily Jones reviewed gene: BDNF: Rating: RED; Mode of pathogenicity: ; Publications: 23649659, 27780732, 30643666; Phenotypes: Central hypoventilation syndrome, congenital 209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset movement disorder v0.49 AUH Emily Jones reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I, 250950; Mode of inheritance:
Adult onset movement disorder v0.49 ATXN3 Emily Jones reviewed gene: ATXN3: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: (CAGexpansion), familial parkinsonism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset movement disorder v0.49 ATXN2 Emily Jones reviewed gene: ATXN2: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Spinocerebellar ataxia 2, 183190, {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183190, {Parkinson disease, late-onset, susceptibility to}, 168600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset movement disorder v0.49 ATP6AP2 Emily Jones reviewed gene: ATP6AP2: Rating: RED; Mode of pathogenicity: ; Publications: 23595882; Phenotypes: Mental retardation, X-linked, syndromic, Hedera type 300423, ?Parkinsonism with spasticity, X-linked 300911; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset movement disorder v0.49 ATN1 Emily Jones reviewed gene: ATN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dentatorubro-pallidoluysian atrophy 125370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset movement disorder v0.49 ARX Emily Jones reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 29343471, 17664398, 26029707; Phenotypes: Partington Syndrome, 300382; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset movement disorder v0.49 ARSA Emily Jones reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: 20301334; Phenotypes: Metachromatic leukodystrophy, 250100; Mode of inheritance:
Adult onset movement disorder v0.49 AIFM1 Emily Jones reviewed gene: AIFM1: Rating: RED; Mode of pathogenicity: ; Publications: 20362274; Phenotypes: Combined oxidative phosphorylation deficiency 6 300816; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset movement disorder v0.49 AFG3L2 Emily Jones reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance:
Adult onset movement disorder v0.49 ACTB Emily Jones 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: 16685646, 28487785, 27862284, 28849312, 29788902; Phenotypes: Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310; Mode of inheritance:
Adult onset movement disorder v0.48 VPS37A Louise Daugherty Added phenotypes Spastic paraplegia 53, autosomal recessive, 614898 for gene: VPS37A
Publications for gene VPS37A were changed from to 22717650
Adult onset movement disorder v0.48 UCHL1 Louise Daugherty Added phenotypes ?{Parkinson disease 5, susceptibility to}, 613643; Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1
Publications for gene UCHL1 were changed from to 28007905; 23359680; 29735986; 10048490
Adult onset movement disorder v0.48 TREX1 Louise Daugherty Added phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, 192315; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 for gene: TREX1
Publications for gene TREX1 were changed from to 25582466
Adult onset movement disorder v0.48 TREM2 Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193; Alzheimers disease; Frontotemporal dementia for gene: TREM2
Publications for gene TREM2 were changed from to 26891767
Adult onset movement disorder v0.48 TPK1 Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1
Publications for gene TPK1 were changed from to 28431625
Adult onset movement disorder v0.48 TIMM8A Louise Daugherty Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A
Publications for gene TIMM8A were changed from to 22736418
Adult onset movement disorder v0.48 TBP Louise Daugherty Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TBP
Adult onset movement disorder v0.48 TAF1 Louise Daugherty Added phenotypes Dystonia-Parkinsonism, X-linked, 314250; SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation) for gene: TAF1
Publications for gene TAF1 were changed from 12928496; http://www.ncbi.nlm.nih.gov/books/NBK1155/; PMID: 26637982; PMID: 26879577; 26637982; 17668393; PMID: 17273961; PMID: 12928496; 17273961; PMID: 23184149; PMID: 2368812; 20301662; PMID: 26769797 to 26637982; 23184149; 17668393; 17273961; 26769797; 2368812; 20301662; 26879577; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 12928496
Adult onset movement disorder v0.48 SUOX Louise Daugherty Added phenotypes Sulfite oxidase deficiency, 272300 for gene: SUOX
Publications for gene SUOX were changed from to 28933809
Adult onset movement disorder v0.48 SNCAIP Louise Daugherty Added phenotypes Parkinson Disease, Dominant/Recessive for gene: SNCAIP
Publications for gene SNCAIP were changed from to 18366718; 21344240
Adult onset movement disorder v0.48 SLC46A1 Louise Daugherty Added phenotypes Folate malabsorption, hereditary, 229050 for gene: SLC46A1
Publications for gene SLC46A1 were changed from to 20301716
Adult onset movement disorder v0.48 SLC41A1 Louise Daugherty Added phenotypes Parkinson disease (Yan (2011) Int J Neurosci 121,632) for gene: SLC41A1
Publications for gene SLC41A1 were changed from 24661466 - A novel heterozygous variant (R244H) reported in the SLC41A1 gene was identified in one early onset PD patient, which not present either in 479 PD patients or 525 normal controls with age onset >50; 27612022 and 26308152 - reduced risk of PD association; 21812739 and 20683486 novel heterozygous variants identified in PD patients to 24661466; 26308152; 21812739; 20683486; 27612022
Adult onset movement disorder v0.48 SDHAF1 Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011 for gene: SDHAF1
Publications for gene SDHAF1 were changed from to 27683074; 23322652
Adult onset movement disorder v0.48 SCP2 Louise Daugherty Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SCP2
Publications for gene SCP2 were changed from PMID: 16685654 to 26497993; 16685654
Adult onset movement disorder v0.48 SCN9A Louise Daugherty Added phenotypes Paroxysmal extreme pain disorder, 167400; Erythermalgia, primary, 133020; Erythermalgia, Primary; Paroxysmal Extreme Pain Disorder; Congenital Indifference to Pain; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Insensitivity to pain, channelopathy-associated, 243000; Dysosteosclerosis; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863 for gene: SCN9A
Adult onset movement disorder v0.48 SAMHD1 Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 5, 612952 for gene: SAMHD1
Publications for gene SAMHD1 were changed from to 25604658; 20842748
Adult onset movement disorder v0.48 RNASEH2C Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 3, 610329 for gene: RNASEH2C
Publications for gene RNASEH2C were changed from to 17846997; 25604658; 16845400
Adult onset movement disorder v0.48 RNASEH2B Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 2, 610181 for gene: RNASEH2B
Publications for gene RNASEH2B were changed from to 17846997; 25604658; 16845400
Adult onset movement disorder v0.48 RNASEH2A Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 4, 610333 for gene: RNASEH2A
Publications for gene RNASEH2A were changed from to 17846997; 25604658; 16845400
Adult onset movement disorder v0.48 QDPR Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 for gene: QDPR
Publications for gene QDPR were changed from to 19491146; 26919687; 10677304
Adult onset movement disorder v0.48 PTS Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 for gene: PTS
Publications for gene PTS were changed from to 26919687
Adult onset movement disorder v0.48 PTEN Louise Daugherty Added phenotypes Cowden syndrome 1, 158350; Lhermitte-Duclos syndrome, 158350; VATER association with macrocephaly and ventriculomegaly, 276950; Macrocephaly/autism syndrome, 605309 for gene: PTEN
Adult onset movement disorder v0.48 PSEN1 Louise Daugherty Added phenotypes Pick disease, 172700; Dementia, frontotemporal 600274; Alzheimer disease, type 3, 607822; Cardiomyopathy, dilated, 1U, 613694 for gene: PSEN1
Publications for gene PSEN1 were changed from to 29316780; 28664294
Adult onset movement disorder v0.48 PNPT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932 for gene: PNPT1
Publications for gene PNPT1 were changed from to 30046113; 23084291
Adult onset movement disorder v0.48 PLP1 Louise Daugherty Added phenotypes Pelizaeus-Merzbacher disease, 312080; Spastic paraplegia 2, X-linked, 312920 for gene: PLP1
Publications for gene PLP1 were changed from to 30046645; 11093273
Adult onset movement disorder v0.48 PDX1 Louise Daugherty Added phenotypes MODY, type IV 606392; Pancreatic agenesis 1 260370 for gene: PDX1
Adult onset movement disorder v0.48 PDHX Louise Daugherty Added phenotypes Lacticacidemia due to PDX1 deficiency, 245349 for gene: PDHX
Publications for gene PDHX were changed from to 20002125; 25087164
Adult onset movement disorder v0.48 PCDH12 Louise Daugherty Added phenotypes intellectual disability; Microcephaly; perithalamic hyperechogenicity; midbrain abnormalities; hypothalamic abnormalities; epilepsy; periventricular hyperechogenicity for gene: PCDH12
Publications for gene PCDH12 were changed from 27164683 to 30459466
Adult onset movement disorder v0.48 NUP62 Louise Daugherty Added phenotypes Striatonigral degeneration, infantile 271930 for gene: NUP62
Adult onset movement disorder v0.48 NR4A2 Louise Daugherty Added phenotypes Parkinson Disease, Dominant/Recessive (susceptibility to) for gene: NR4A2
Publications for gene NR4A2 were changed from 15184637; 12496759; 15276233; 12827450; 27012974; 24126627; 15390059; 25543265 to 12827450; 25543265; 15390059; 24126627; 27012974; 15184637; 12496759; 15276233
Adult onset movement disorder v0.48 NPC2 Louise Daugherty Added phenotypes Niemann-pick disease, type C2, 607625 for gene: NPC2
Publications for gene NPC2 were changed from to 11567215
Adult onset movement disorder v0.48 NKX2-1 Louise Daugherty Added phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress; Chorea, hereditary benign 118700 for gene: NKX2-1
Publications for gene NKX2-1 were changed from 24555207 to 24714694; 24555207
Adult onset movement disorder v0.48 NDUFS3 Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 8, 618230 for gene: NDUFS3
Publications for gene NDUFS3 were changed from to 14729820; 19167255
Adult onset movement disorder v0.48 NDUFA9 Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 for gene: NDUFA9
Publications for gene NDUFA9 were changed from 22114105 to 28671271; 22114105
Adult onset movement disorder v0.48 NDUFA2 Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 13 for gene: NDUFA2
Publications for gene NDUFA2 were changed from 18513682 to 28857146; 18513682; 27159321
Adult onset movement disorder v0.48 NDUFA12 Louise Daugherty Added phenotypes ?Mitochondrial complex I deficiency, nuclear type 23, 618244 for gene: NDUFA12
Adult onset movement disorder v0.48 MPV17 Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 for gene: MPV17
Publications for gene MPV17 were changed from to 22593919
Adult onset movement disorder v0.48 MMADHC Louise Daugherty Added phenotypes Methylmalonic aciduria, cblD type, variant 2; Homocystinuria, cblD type, variant 1; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC
Publications for gene MMADHC were changed from to 20301503
Adult onset movement disorder v0.48 MCOLN1 Louise Daugherty Added phenotypes Mucolipidosis IV, 252650 for gene: MCOLN1
Publications for gene MCOLN1 were changed from to 29449188
Adult onset movement disorder v0.48 MAT1A Louise Daugherty Added phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A
Publications for gene MAT1A were changed from to 26289392
Adult onset movement disorder v0.48 L2HGDH Louise Daugherty Added phenotypes L-2-hydroxyglutaric aciduria, 236792 for gene: L2HGDH
Publications for gene L2HGDH were changed from to 18780161
Adult onset movement disorder v0.48 KCNK18 Louise Daugherty Added phenotypes MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 for gene: KCNK18
Publications for gene KCNK18 were changed from 20871611; 22355750 to 22355750; 20871611
Adult onset movement disorder v0.48 JPH3 Louise Daugherty Added phenotypes Huntington disease-like 2 for gene: JPH3
Adult onset movement disorder v0.48 HTT Louise Daugherty Added phenotypes Huntington disease for gene: HTT
Adult onset movement disorder v0.48 HPRT1 Louise Daugherty Added phenotypes Lesch-Nyhan syndrome, 300322 for gene: HPRT1
Publications for gene HPRT1 were changed from to 20176575
Adult onset movement disorder v0.48 HEXA Louise Daugherty Added phenotypes Hex A pseudodeficiency 272800; GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800 for gene: HEXA
Publications for gene HEXA were changed from to 20301397; 18642377
Adult onset movement disorder v0.48 GNAL Louise Daugherty Added phenotypes adult-onset cranio-cervical dystonia; Dystonia 25, 615073 for gene: GNAL
Publications for gene GNAL were changed from 23222958; 27093447; 27222887; 24729450; 26725140; 23759320; 27123488; 24151159; 23449625; 25847575; 26810727; 24408567; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 26365774; 26506956; 25382112; 24535567 to 23449625; 26810727; 23222958; 25847575; 26725140; 27123488; 24408567; 26365774; 25382112; 27093447; 24535567; 23759320; 27222887; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 24151159; 26506956; 24729450
Adult onset movement disorder v0.48 GIGYF2 Louise Daugherty Added phenotypes Susceptibility to Parkinson disease 11, 607688; {Parkinson disease 11} for gene: GIGYF2
Publications for gene GIGYF2 were changed from 19279319; 18358451; 19250854; 201788319; 18923002; 20060621; 20685231; 19482505; 19449032; 19321232; 26134514; 19429085; 20044296 to 20060621; 20044296; 19482505; 201788319; 26134514; 19449032; 19321232; 19429085; 20685231; 18923002; 19250854; 19279319; 18358451
Adult onset movement disorder v0.48 GFAP Louise Daugherty Added phenotypes Alexander disease 203450 for gene: GFAP
Publications for gene GFAP were changed from 15732098; 14557587 to 14557587; 15732098
Adult onset movement disorder v0.48 GAMT Louise Daugherty Added phenotypes Cerebral creatine deficiency syndrome 2, 612736 for gene: GAMT
Publications for gene GAMT were changed from to 24268530
Adult onset movement disorder v0.48 FOXRED1 Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 19, 618241 for gene: FOXRED1
Adult onset movement disorder v0.48 FOXG1 Louise Daugherty Added phenotypes Rett Syndrome, congenital variant, 613454 for gene: FOXG1
Publications for gene FOXG1 were changed from to 27029630; 29086067
Adult onset movement disorder v0.48 FASTKD2 Louise Daugherty Added phenotypes Dystonia for gene: FASTKD2
Adult onset movement disorder v0.48 ERCC6 Louise Daugherty Added phenotypes Dystonia for gene: ERCC6
Adult onset movement disorder v0.48 EIF4G1 Louise Daugherty Added phenotypes Parkinsons disease 18, 614251 for gene: EIF4G1
Publications for gene EIF4G1 were changed from to 25368108
Adult onset movement disorder v0.48 EARS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924. for gene: EARS2
Adult onset movement disorder v0.48 DRD5 Louise Daugherty Added phenotypes {Blepharospasm, primary benign}, 606798 for gene: DRD5
Publications for gene DRD5 were changed from PMID: 17133500 to 12700316; 17133500
Adult onset movement disorder v0.48 DRD2 Louise Daugherty Added phenotypes Dystonia, myoclonic, 159900 for gene: DRD2
Publications for gene DRD2 were changed from http://www.ncbi.nlm.nih.gov/books/NBK1414/ to 20301587
Adult onset movement disorder v0.48 DDC Louise Daugherty Added phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643 for gene: DDC
Publications for gene DDC were changed from to 19172410
Adult onset movement disorder v0.48 CYP27A1 Louise Daugherty Added phenotypes Cerebrotendinous xanthomatosis, CTX, 213700 for gene: CYP27A1
Publications for gene CYP27A1 were changed from to 24442603
Adult onset movement disorder v0.48 CIZ1 Louise Daugherty Added phenotypes Dystonia 23, 614860 for gene: CIZ1
Publications for gene CIZ1 were changed from to 22447717
Adult onset movement disorder v0.48 CHCHD2 Louise Daugherty Added phenotypes 616710; Parkinson disease 22, autosomal dominant for gene: CHCHD2
Adult onset movement disorder v0.48 C9orf72 Louise Daugherty Added phenotypes complex parkinsonism; (Hexanucleotideexpansion); clinical presentation suggestive of cortico-basal/PSP syndrome for gene: C9orf72
Publications for gene C9orf72 were changed from http://www.ncbi.nlm.nih.gov/pubmed/25326098; 25326098 to 25326098
Adult onset movement disorder v0.48 BDNF Louise Daugherty Added phenotypes Central hypoventilation syndrome, congenital 209880 for gene: BDNF
Publications for gene BDNF were changed from 23649659; 27780732 to 23649659; 27780732; 30643666
Adult onset movement disorder v0.48 AUH Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type I, 250950 for gene: AUH
Adult onset movement disorder v0.48 ATXN3 Louise Daugherty Added phenotypes (CAGexpansion); familial parkinsonism for gene: ATXN3
Adult onset movement disorder v0.48 ATXN2 Louise Daugherty Added phenotypes {Parkinson disease, late-onset, susceptibility to}, 168600; {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183190; Spinocerebellar ataxia 2, 183190 for gene: ATXN2
Adult onset movement disorder v0.48 ATP6AP2 Louise Daugherty Added phenotypes ?Parkinsonism with spasticity, X-linked 300911; Mental retardation, X-linked, syndromic, Hedera type 300423 for gene: ATP6AP2
Adult onset movement disorder v0.48 ATN1 Louise Daugherty Added phenotypes Dentatorubro-pallidoluysian atrophy 125370 for gene: ATN1
Adult onset movement disorder v0.48 ARX Louise Daugherty Added phenotypes Partington Syndrome, 300382 for gene: ARX
Publications for gene ARX were changed from to 29343471; 17664398; 26029707
Adult onset movement disorder v0.48 ARSA Louise Daugherty Added phenotypes Metachromatic leukodystrophy, 250100 for gene: ARSA
Publications for gene ARSA were changed from to 20301334
Adult onset movement disorder v0.48 AIFM1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 6 300816 for gene: AIFM1
Adult onset movement disorder v0.48 AFG3L2 Louise Daugherty Added phenotypes Dystonia for gene: AFG3L2
Adult onset movement disorder v0.48 ACTB Louise Daugherty Added phenotypes Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 for gene: ACTB
Publications for gene ACTB were changed from to 28849312; 16685646; 27862284; 28487785; 29788902
Adult onset movement disorder v0.47 VPS37A Louise Daugherty Source NHS GMS was added to VPS37A.
Adult onset movement disorder v0.47 UCHL1 Louise Daugherty Source NHS GMS was added to UCHL1.
Adult onset movement disorder v0.47 TREX1 Louise Daugherty Source NHS GMS was added to TREX1.
Adult onset movement disorder v0.47 TREM2 Louise Daugherty Source NHS GMS was added to TREM2.
Adult onset movement disorder v0.47 TPK1 Louise Daugherty Source NHS GMS was added to TPK1.
Adult onset movement disorder v0.47 TIMM8A Louise Daugherty Source NHS GMS was added to TIMM8A.
Adult onset movement disorder v0.47 TBP Louise Daugherty Source NHS GMS was added to TBP.
Adult onset movement disorder v0.47 TAF1 Louise Daugherty Source NHS GMS was added to TAF1.
Adult onset movement disorder v0.47 SUOX Louise Daugherty Source NHS GMS was added to SUOX.
Adult onset movement disorder v0.47 SNCAIP Louise Daugherty Source NHS GMS was added to SNCAIP.
Adult onset movement disorder v0.47 SLC46A1 Louise Daugherty Source NHS GMS was added to SLC46A1.
Adult onset movement disorder v0.47 SLC41A1 Louise Daugherty Source NHS GMS was added to SLC41A1.
Adult onset movement disorder v0.47 SDHAF1 Louise Daugherty Source NHS GMS was added to SDHAF1.
Adult onset movement disorder v0.47 SCP2 Louise Daugherty Source NHS GMS was added to SCP2.
Adult onset movement disorder v0.47 SCN9A Louise Daugherty Source NHS GMS was added to SCN9A.
Adult onset movement disorder v0.47 SAMHD1 Louise Daugherty Source NHS GMS was added to SAMHD1.
Adult onset movement disorder v0.47 RNASEH2C Louise Daugherty Source NHS GMS was added to RNASEH2C.
Adult onset movement disorder v0.47 RNASEH2B Louise Daugherty Source NHS GMS was added to RNASEH2B.
Adult onset movement disorder v0.47 RNASEH2A Louise Daugherty Source NHS GMS was added to RNASEH2A.
Adult onset movement disorder v0.47 QDPR Louise Daugherty Source NHS GMS was added to QDPR.
Adult onset movement disorder v0.47 PTS Louise Daugherty Source NHS GMS was added to PTS.
Adult onset movement disorder v0.47 PTEN Louise Daugherty Source NHS GMS was added to PTEN.
Adult onset movement disorder v0.47 PSEN1 Louise Daugherty Source NHS GMS was added to PSEN1.
Adult onset movement disorder v0.47 PNPT1 Louise Daugherty Source NHS GMS was added to PNPT1.
Adult onset movement disorder v0.47 PLP1 Louise Daugherty Source NHS GMS was added to PLP1.
Adult onset movement disorder v0.47 PDX1 Louise Daugherty Source NHS GMS was added to PDX1.
Adult onset movement disorder v0.47 PDHX Louise Daugherty Source NHS GMS was added to PDHX.
Adult onset movement disorder v0.47 PCDH12 Louise Daugherty Source NHS GMS was added to PCDH12.
Adult onset movement disorder v0.47 NUP62 Louise Daugherty Source NHS GMS was added to NUP62.
Adult onset movement disorder v0.47 NR4A2 Louise Daugherty Source NHS GMS was added to NR4A2.
Adult onset movement disorder v0.47 NPC2 Louise Daugherty Source NHS GMS was added to NPC2.
Adult onset movement disorder v0.47 NKX2-1 Louise Daugherty Source NHS GMS was added to NKX2-1.
Adult onset movement disorder v0.47 NDUFS3 Louise Daugherty Source NHS GMS was added to NDUFS3.
Adult onset movement disorder v0.47 NDUFA9 Louise Daugherty Source NHS GMS was added to NDUFA9.
Adult onset movement disorder v0.47 NDUFA2 Louise Daugherty Source NHS GMS was added to NDUFA2.
Adult onset movement disorder v0.47 NDUFA12 Louise Daugherty Source NHS GMS was added to NDUFA12.
Adult onset movement disorder v0.47 MR1 Louise Daugherty Source NHS GMS was added to MR1.
Adult onset movement disorder v0.47 MPV17 Louise Daugherty Source NHS GMS was added to MPV17.
Adult onset movement disorder v0.47 MMADHC Louise Daugherty Source NHS GMS was added to MMADHC.
Adult onset movement disorder v0.47 MCOLN1 Louise Daugherty Source NHS GMS was added to MCOLN1.
Adult onset movement disorder v0.47 MAT1A Louise Daugherty Source NHS GMS was added to MAT1A.
Adult onset movement disorder v0.47 L2HGDH Louise Daugherty Source NHS GMS was added to L2HGDH.
Adult onset movement disorder v0.47 KCNK18 Louise Daugherty Source NHS GMS was added to KCNK18.
Adult onset movement disorder v0.47 JPH3 Louise Daugherty Source NHS GMS was added to JPH3.
Adult onset movement disorder v0.47 IPPK Louise Daugherty Source NHS GMS was added to IPPK.
Adult onset movement disorder v0.47 HTT Louise Daugherty Source NHS GMS was added to HTT.
Adult onset movement disorder v0.47 HPRT1 Louise Daugherty Source NHS GMS was added to HPRT1.
Adult onset movement disorder v0.47 HEXA Louise Daugherty Source NHS GMS was added to HEXA.
Adult onset movement disorder v0.47 GNAL Louise Daugherty Source NHS GMS was added to GNAL.
Adult onset movement disorder v0.47 GIGYF2 Louise Daugherty Source NHS GMS was added to GIGYF2.
Adult onset movement disorder v0.47 GFAP Louise Daugherty Source NHS GMS was added to GFAP.
Adult onset movement disorder v0.47 GAMT Louise Daugherty Source NHS GMS was added to GAMT.
Adult onset movement disorder v0.47 FOXRED1 Louise Daugherty Source NHS GMS was added to FOXRED1.
Adult onset movement disorder v0.47 FOXG1 Louise Daugherty Source NHS GMS was added to FOXG1.
Adult onset movement disorder v0.47 FASTKD2 Louise Daugherty Source NHS GMS was added to FASTKD2.
Adult onset movement disorder v0.47 ERCC6 Louise Daugherty Source NHS GMS was added to ERCC6.
Adult onset movement disorder v0.47 EIF4G1 Louise Daugherty Source NHS GMS was added to EIF4G1.
Adult onset movement disorder v0.47 EARS2 Louise Daugherty Source NHS GMS was added to EARS2.
Adult onset movement disorder v0.47 DRD5 Louise Daugherty Source NHS GMS was added to DRD5.
Adult onset movement disorder v0.47 DRD2 Louise Daugherty Source NHS GMS was added to DRD2.
Adult onset movement disorder v0.47 DDC Louise Daugherty Source NHS GMS was added to DDC.
Adult onset movement disorder v0.47 DCAF10 Louise Daugherty Source NHS GMS was added to DCAF10.
Adult onset movement disorder v0.47 CYP27A1 Louise Daugherty Source NHS GMS was added to CYP27A1.
Adult onset movement disorder v0.47 CIZ1 Louise Daugherty Source NHS GMS was added to CIZ1.
Adult onset movement disorder v0.47 CHCHD2 Louise Daugherty Source NHS GMS was added to CHCHD2.
Adult onset movement disorder v0.47 C9orf72 Louise Daugherty Source NHS GMS was added to C9orf72.
Adult onset movement disorder v0.47 BDNF Louise Daugherty Source NHS GMS was added to BDNF.
Adult onset movement disorder v0.47 AUH Louise Daugherty Source NHS GMS was added to AUH.
Adult onset movement disorder v0.47 ATXN3 Louise Daugherty Source NHS GMS was added to ATXN3.
Adult onset movement disorder v0.47 ATXN2 Louise Daugherty Source NHS GMS was added to ATXN2.
Adult onset movement disorder v0.47 ATP6AP2 Louise Daugherty Source NHS GMS was added to ATP6AP2.
Adult onset movement disorder v0.47 ATN1 Louise Daugherty Source NHS GMS was added to ATN1.
Adult onset movement disorder v0.47 ARX Louise Daugherty Source NHS GMS was added to ARX.
Adult onset movement disorder v0.47 ARSA Louise Daugherty Source NHS GMS was added to ARSA.
Adult onset movement disorder v0.47 AIFM1 Louise Daugherty Source NHS GMS was added to AIFM1.
Adult onset movement disorder v0.47 AFG3L2 Louise Daugherty Source NHS GMS was added to AFG3L2.
Adult onset movement disorder v0.47 ACTB Louise Daugherty Source NHS GMS was added to ACTB.
Adult onset movement disorder v0.46 VPS37A Louise Daugherty Source South West GLH was added to VPS37A.
Adult onset movement disorder v0.46 UCHL1 Louise Daugherty Source South West GLH was added to UCHL1.
Adult onset movement disorder v0.46 TREX1 Louise Daugherty Source South West GLH was added to TREX1.
Adult onset movement disorder v0.46 TREM2 Louise Daugherty Source South West GLH was added to TREM2.
Adult onset movement disorder v0.46 TPK1 Louise Daugherty Source South West GLH was added to TPK1.
Adult onset movement disorder v0.46 TIMM8A Louise Daugherty Source South West GLH was added to TIMM8A.
Adult onset movement disorder v0.46 TBP Louise Daugherty Source South West GLH was added to TBP.
Adult onset movement disorder v0.46 TAF1 Louise Daugherty Source South West GLH was added to TAF1.
Adult onset movement disorder v0.46 SUOX Louise Daugherty Source South West GLH was added to SUOX.
Adult onset movement disorder v0.46 SNCAIP Louise Daugherty Source South West GLH was added to SNCAIP.
Adult onset movement disorder v0.46 SLC46A1 Louise Daugherty Source South West GLH was added to SLC46A1.
Adult onset movement disorder v0.46 SLC41A1 Louise Daugherty Source South West GLH was added to SLC41A1.
Adult onset movement disorder v0.46 SDHAF1 Louise Daugherty Source South West GLH was added to SDHAF1.
Adult onset movement disorder v0.46 SCP2 Louise Daugherty Source South West GLH was added to SCP2.
Adult onset movement disorder v0.46 SCN9A Louise Daugherty Source South West GLH was added to SCN9A.
Adult onset movement disorder v0.46 SAMHD1 Louise Daugherty Source South West GLH was added to SAMHD1.
Adult onset movement disorder v0.46 RNASEH2C Louise Daugherty Source South West GLH was added to RNASEH2C.
Adult onset movement disorder v0.46 RNASEH2B Louise Daugherty Source South West GLH was added to RNASEH2B.
Adult onset movement disorder v0.46 RNASEH2A Louise Daugherty Source South West GLH was added to RNASEH2A.
Adult onset movement disorder v0.46 QDPR Louise Daugherty Source South West GLH was added to QDPR.
Adult onset movement disorder v0.46 PTS Louise Daugherty Source South West GLH was added to PTS.
Adult onset movement disorder v0.46 PTEN Louise Daugherty Source South West GLH was added to PTEN.
Adult onset movement disorder v0.46 PSEN1 Louise Daugherty Source South West GLH was added to PSEN1.
Adult onset movement disorder v0.46 PNPT1 Louise Daugherty Source South West GLH was added to PNPT1.
Adult onset movement disorder v0.46 PLP1 Louise Daugherty Source South West GLH was added to PLP1.
Adult onset movement disorder v0.46 PDX1 Louise Daugherty Source South West GLH was added to PDX1.
Adult onset movement disorder v0.46 PDHX Louise Daugherty Source South West GLH was added to PDHX.
Adult onset movement disorder v0.46 PCDH12 Louise Daugherty Source South West GLH was added to PCDH12.
Adult onset movement disorder v0.46 NUP62 Louise Daugherty Source South West GLH was added to NUP62.
Adult onset movement disorder v0.46 NR4A2 Louise Daugherty Source South West GLH was added to NR4A2.
Adult onset movement disorder v0.46 NPC2 Louise Daugherty Source South West GLH was added to NPC2.
Adult onset movement disorder v0.46 NKX2-1 Louise Daugherty Source South West GLH was added to NKX2-1.
Adult onset movement disorder v0.46 NDUFS3 Louise Daugherty Source South West GLH was added to NDUFS3.
Adult onset movement disorder v0.46 NDUFA9 Louise Daugherty Source South West GLH was added to NDUFA9.
Adult onset movement disorder v0.46 NDUFA2 Louise Daugherty Source South West GLH was added to NDUFA2.
Adult onset movement disorder v0.46 NDUFA12 Louise Daugherty Source South West GLH was added to NDUFA12.
Adult onset movement disorder v0.46 MR1 Louise Daugherty Source South West GLH was added to MR1.
Adult onset movement disorder v0.46 MPV17 Louise Daugherty Source South West GLH was added to MPV17.
Adult onset movement disorder v0.46 MMADHC Louise Daugherty Source South West GLH was added to MMADHC.
Adult onset movement disorder v0.46 MCOLN1 Louise Daugherty Source South West GLH was added to MCOLN1.
Adult onset movement disorder v0.46 MAT1A Louise Daugherty Source South West GLH was added to MAT1A.
Adult onset movement disorder v0.46 L2HGDH Louise Daugherty Source South West GLH was added to L2HGDH.
Adult onset movement disorder v0.46 KCNK18 Louise Daugherty Source South West GLH was added to KCNK18.
Adult onset movement disorder v0.46 JPH3 Louise Daugherty Source South West GLH was added to JPH3.
Adult onset movement disorder v0.46 IPPK Louise Daugherty Source South West GLH was added to IPPK.
Adult onset movement disorder v0.46 HTT Louise Daugherty Source South West GLH was added to HTT.
Adult onset movement disorder v0.46 HPRT1 Louise Daugherty Source South West GLH was added to HPRT1.
Adult onset movement disorder v0.46 HEXA Louise Daugherty Source South West GLH was added to HEXA.
Adult onset movement disorder v0.46 GNAL Louise Daugherty Source South West GLH was added to GNAL.
Adult onset movement disorder v0.46 GIGYF2 Louise Daugherty Source South West GLH was added to GIGYF2.
Adult onset movement disorder v0.46 GFAP Louise Daugherty Source South West GLH was added to GFAP.
Adult onset movement disorder v0.46 GAMT Louise Daugherty Source South West GLH was added to GAMT.
Adult onset movement disorder v0.46 FOXRED1 Louise Daugherty Source South West GLH was added to FOXRED1.
Adult onset movement disorder v0.46 FOXG1 Louise Daugherty Source South West GLH was added to FOXG1.
Adult onset movement disorder v0.46 FASTKD2 Louise Daugherty Source South West GLH was added to FASTKD2.
Adult onset movement disorder v0.46 ERCC6 Louise Daugherty Source South West GLH was added to ERCC6.
Adult onset movement disorder v0.46 EIF4G1 Louise Daugherty Source South West GLH was added to EIF4G1.
Adult onset movement disorder v0.46 EARS2 Louise Daugherty Source South West GLH was added to EARS2.
Adult onset movement disorder v0.46 DRD5 Louise Daugherty Source South West GLH was added to DRD5.
Adult onset movement disorder v0.46 DRD2 Louise Daugherty Source South West GLH was added to DRD2.
Adult onset movement disorder v0.46 DDC Louise Daugherty Source South West GLH was added to DDC.
Adult onset movement disorder v0.46 DCAF10 Louise Daugherty Source South West GLH was added to DCAF10.
Adult onset movement disorder v0.46 CYP27A1 Louise Daugherty Source South West GLH was added to CYP27A1.
Adult onset movement disorder v0.46 CIZ1 Louise Daugherty Source South West GLH was added to CIZ1.
Adult onset movement disorder v0.46 CHCHD2 Louise Daugherty Source South West GLH was added to CHCHD2.
Adult onset movement disorder v0.46 C9orf72 Louise Daugherty Source South West GLH was added to C9orf72.
Adult onset movement disorder v0.46 BDNF Louise Daugherty Source South West GLH was added to BDNF.
Adult onset movement disorder v0.46 AUH Louise Daugherty Source South West GLH was added to AUH.
Adult onset movement disorder v0.46 ATXN3 Louise Daugherty Source South West GLH was added to ATXN3.
Adult onset movement disorder v0.46 ATXN2 Louise Daugherty Source South West GLH was added to ATXN2.
Adult onset movement disorder v0.46 ATP6AP2 Louise Daugherty Source South West GLH was added to ATP6AP2.
Adult onset movement disorder v0.46 ATN1 Louise Daugherty Source South West GLH was added to ATN1.
Adult onset movement disorder v0.46 ARX Louise Daugherty Source South West GLH was added to ARX.
Adult onset movement disorder v0.46 ARSA Louise Daugherty Source South West GLH was added to ARSA.
Adult onset movement disorder v0.46 AIFM1 Louise Daugherty Source South West GLH was added to AIFM1.
Adult onset movement disorder v0.46 AFG3L2 Louise Daugherty Source South West GLH was added to AFG3L2.
Adult onset movement disorder v0.46 ACTB Louise Daugherty Source South West GLH was added to ACTB.
Adult onset movement disorder v0.45 CYP27A1 Philip Dawson reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30054180, 29484516; Phenotypes: Cerebrotendinous xanthomatosis, 213700, Dystonia, including childhood & adult onset.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.45 NDUFA1 Ellen McDonagh Publications for gene: NDUFA1 were set to 28247337; 17262856
Adult onset movement disorder v0.44 NDUFA1 Ellen McDonagh Added comment: Comment on mode of inheritance: Changed from 'Both monoallelic and biallelic' to X-linked, as encoded on the X-chromosome. There are multiple studies were the heterozygous mother of the affected male proband was unaffected [PMID: 17262856; 19185523]. One study does report a female with a heterozygous variant who developed a very mild form of complex I deficiency due to skewed X inactivation [PMID: 21596602].
Adult onset movement disorder v0.44 NDUFA1 Ellen McDonagh Mode of inheritance for gene: NDUFA1 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset movement disorder v0.43 TBP_CAG Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence)
Adult onset movement disorder v0.43 TBP_CAG Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence).
Adult onset movement disorder v0.42 TBP_CAG Louise Daugherty STR: TBP_CAG was added
STR: TBP_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: TBP_CAG.
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TBP_CAG were set to 20301611
Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136
Review for STR: TBP_CAG was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Brain channelopathy v1.48
Sources: Expert list
Adult onset movement disorder v0.41 PPP2R2B_CAG Louise Daugherty Classified STR: PPP2R2B_CAG as Green List (high evidence)
Adult onset movement disorder v0.41 PPP2R2B_CAG Louise Daugherty Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Adult onset movement disorder v0.40 PPP2R2B_CAG Louise Daugherty STR: PPP2R2B_CAG was added
STR: PPP2R2B_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: PPP2R2B_CAG.
Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326
Review for STR: PPP2R2B_CAG was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Adult onset movement disorder v0.39 CACNA1A_CAG Louise Daugherty Classified STR: CACNA1A_CAG as Green List (high evidence)
Adult onset movement disorder v0.39 CACNA1A_CAG Louise Daugherty Str: cacna1a_cag has been classified as Green List (High Evidence).
Adult onset movement disorder v0.38 CACNA1A_CAG Louise Daugherty STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: CACNA1A_CAG.
Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086
Review for STR: CACNA1A_CAG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Adult onset movement disorder v0.37 ATXN3_CAG Louise Daugherty Classified STR: ATXN3_CAG as Green List (high evidence)
Adult onset movement disorder v0.37 ATXN3_CAG Louise Daugherty Str: atxn3_cag has been classified as Green List (High Evidence).
Adult onset movement disorder v0.36 ATXN3_CAG Louise Daugherty STR: ATXN3_CAG was added
STR: ATXN3_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: ATXN3_CAG.
Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150
Review for STR: ATXN3_CAG was set to GREEN
Added comment: Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Adult onset movement disorder v0.35 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as Green List (high evidence)
Adult onset movement disorder v0.35 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been classified as Green List (High Evidence).
Adult onset movement disorder v0.34 ATXN2_CAG Louise Daugherty STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: ATXN2_CAG.
Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090
Review for STR: ATXN2_CAG was set to GREEN
Added comment: Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Adult onset movement disorder v0.33 ATXN1_CAG Louise Daugherty Classified STR: ATXN1_CAG as Green List (high evidence)
Adult onset movement disorder v0.33 ATXN1_CAG Louise Daugherty Str: atxn1_cag has been classified as Green List (High Evidence).
Adult onset movement disorder v0.32 ATXN1_CAG Louise Daugherty STR: ATXN1_CAG was added
STR: ATXN1_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: ATXN1_CAG.
Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400
Review for STR: ATXN1_CAG was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Adult onset movement disorder v0.31 JPH3_CTG Louise Daugherty Classified STR: JPH3_CTG as Green List (high evidence)
Adult onset movement disorder v0.31 JPH3_CTG Louise Daugherty Str: jph3_ctg has been classified as Green List (High Evidence).
Adult onset movement disorder v0.31 JPH3_CTG Louise Daugherty Classified STR: JPH3_CTG as Green List (high evidence)
Adult onset movement disorder v0.31 JPH3_CTG Louise Daugherty Str: jph3_ctg has been classified as Green List (High Evidence).
Adult onset movement disorder v0.30 JPH3_CTG Louise Daugherty STR: JPH3_CTG was added
STR: JPH3_CTG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: JPH3_CTG.
Mode of inheritance for STR: JPH3_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: JPH3_CTG were set to Huntington disease-like 2 606438
Review for STR: JPH3_CTG was set to GREEN
Added comment: Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.6
Sources: Expert list
Adult onset movement disorder v0.29 HTT_CAG Louise Daugherty Classified STR: HTT_CAG as Green List (high evidence)
Adult onset movement disorder v0.29 HTT_CAG Louise Daugherty Str: htt_cag has been classified as Green List (High Evidence).
Adult onset movement disorder v0.28 HTT_CAG Louise Daugherty STR: HTT_CAG was added
STR: HTT_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: HTT_CAG.
Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HTT_CAG were set to 24256063
Phenotypes for STR: HTT_CAG were set to Huntington disease 143100
Review for STR: HTT_CAG was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Adult onset movement disorder v0.27 CSTB_CCCCGCCCCGCG Louise Daugherty Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Adult onset movement disorder v0.27 CSTB_CCCCGCCCCGCG Louise Daugherty Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Adult onset movement disorder v0.26 CSTB_CCCCGCCCCGCG Louise Daugherty Chromosome for CSTB_CCCCGCCCCGCG was changed from 12 to 21. Panel: Adult onset movement disorder
Adult onset movement disorder v0.25 CSTB_CCCCGCCCCGCG Louise Daugherty STR: CSTB_CCCCGCCCCGCG was added
STR: CSTB_CCCCGCCCCGCG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: CSTB_CCCCGCCCCGCG.
Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: CSTB_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Review for STR: CSTB_CCCCGCCCCGCG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Adult onset movement disorder v0.24 C9orf72_GGGGCC Louise Daugherty Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Adult onset movement disorder v0.24 C9orf72_GGGGCC Louise Daugherty Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Adult onset movement disorder v0.23 C9orf72_GGGGCC Louise Daugherty STR: C9orf72_GGGGCC was added
STR: C9orf72_GGGGCC was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: C9orf72_GGGGCC.
Mode of inheritance for STR: C9orf72_GGGGCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: C9orf72_GGGGCC were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Review for STR: C9orf72_GGGGCC was set to GREEN
Added comment: Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.6
Sources: Expert list
Adult onset movement disorder v0.22 ATN1_CAG Louise Daugherty Classified STR: ATN1_CAG as Green List (high evidence)
Adult onset movement disorder v0.22 ATN1_CAG Louise Daugherty Str: atn1_cag has been classified as Green List (High Evidence).
Adult onset movement disorder v0.21 ATN1_CAG Louise Daugherty Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubro-pallidoluysian atrophy 125370
Adult onset movement disorder v0.20 ATN1_CAG Louise Daugherty STR: ATN1_CAG was added
STR: ATN1_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: ATN1_CAG.
Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090
Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370
Added comment: Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64, Brain channelopathy v1.48
Sources: Expert list
Adult onset movement disorder v0.19 PDP1 Louise Daugherty Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency, 608782
Adult onset movement disorder v0.18 SDHA Louise Daugherty Phenotypes for gene: SDHA were changed from to Cardiomyopathy, dilated, 1GG, 613642; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011
Adult onset movement disorder v0.17 SUCLG1 Louise Daugherty Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Adult onset movement disorder v0.16 SURF1 Louise Daugherty Phenotypes for gene: SURF1 were changed from to Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000
Adult onset movement disorder v0.15 BCS1L Louise Daugherty Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome, 262000; Leigh syndrome, 256000; Mitochondrial complex III deficiency, nuclear type 1, 124000
Adult onset movement disorder v0.14 COX10 Louise Daugherty Phenotypes for gene: COX10 were changed from to Leigh syndrome due to mitochondrial COX4 deficiency, 256000; Mitochondrial complex IV deficiency, 220110
Adult onset movement disorder v0.13 COX15 Louise Daugherty Phenotypes for gene: COX15 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Adult onset movement disorder v0.12 NDUFAF2 Louise Daugherty Phenotypes for gene: NDUFAF2 were changed from to Mitochondrial complex I deficiency, nuclear type 10, 618233
Adult onset movement disorder v0.11 NDUFS7 Louise Daugherty Phenotypes for gene: NDUFS7 were changed from to Mitochondrial complex I deficiency, nuclear type 3, 618224
Adult onset movement disorder v0.10 NDUFS8 Louise Daugherty Phenotypes for gene: NDUFS8 were changed from to Mitochondrial complex I deficiency, nuclear type 2, 618222
Adult onset movement disorder v0.9 NDUFV1 Louise Daugherty Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency, 252010
Adult onset movement disorder v0.8 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
Adult onset movement disorder v0.7 GLRB Louise Daugherty Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619
Adult onset movement disorder v0.6 SLC6A5 Louise Daugherty Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618
Adult onset movement disorder v0.5 WDR73 Louise Daugherty Phenotypes for gene: WDR73 were changed from Galloway Mowat Syndrome to Galloway-Mowat syndrome 1, 251300
Adult onset movement disorder v0.4 AP1S2 Ellen McDonagh Classified gene: AP1S2 as Green List (high evidence)
Adult onset movement disorder v0.4 AP1S2 Ellen McDonagh Added comment: Comment on list classification: This gene is Green on the Structural basal ganglia disorders v1.10 panel.
Adult onset movement disorder v0.4 AP1S2 Ellen McDonagh Gene: ap1s2 has been classified as Green List (High Evidence).
Adult onset movement disorder v0.2 YY1 Ellen McDonagh gene: YY1 was added
gene: YY1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YY1 were set to 28575647
Phenotypes for gene: YY1 were set to Gabriele-de Vries syndrome
Adult onset movement disorder v0.2 VAC14 Ellen McDonagh gene: VAC14 was added
gene: VAC14 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VAC14 were set to 19037259; 17956977; 27292112
Phenotypes for gene: VAC14 were set to Striatonigral degeneration, childhood-onset
Adult onset movement disorder v0.2 SLC39A14 Ellen McDonagh gene: SLC39A14 was added
gene: SLC39A14 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A14 were set to 27231142
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2
Adult onset movement disorder v0.2 PLA2G6 Ellen McDonagh gene: PLA2G6 was added
gene: PLA2G6 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 18799783; 18570303; 16783378
Phenotypes for gene: PLA2G6 were set to PLA2G6-associated neurodegeneration; Parkinson disease 14, autosomal recessive 612953; Neurodegeneration with brain iron accumulation 2B 610217; Infantile neuroaxonal dystrophy 1 256600
Adult onset movement disorder v0.2 PDX1 Ellen McDonagh gene: PDX1 was added
gene: PDX1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDX1 were set to Pancreatic agenesis 1; MODY, type IV 606392
Adult onset movement disorder v0.2 PCCB Ellen McDonagh gene: PCCB was added
gene: PCCB was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to Propionicacidemia
Adult onset movement disorder v0.2 PCCA Ellen McDonagh gene: PCCA was added
gene: PCCA was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCA were set to 6790853; 15235904
Phenotypes for gene: PCCA were set to Propionicacidemia
Adult onset movement disorder v0.2 NUP62 Ellen McDonagh gene: NUP62 was added
gene: NUP62 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP62 were set to 16786527; 14718703; 12374138
Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile
Adult onset movement disorder v0.2 NKX6-2 Ellen McDonagh gene: NKX6-2 was added
gene: NKX6-2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX6-2 were set to 15601927; 28575651
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Adult onset movement disorder v0.2 NKX2-1 Ellen McDonagh gene: NKX2-1 was added
gene: NKX2-1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-1 were set to 24555207
Phenotypes for gene: NKX2-1 were set to Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Adult onset movement disorder v0.2 NDUFS3 Ellen McDonagh gene: NDUFS3 was added
gene: NDUFS3 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency; Leigh syndrome due to mitochondrial complex I deficiency 256000
Adult onset movement disorder v0.2 NDUFAF6 Ellen McDonagh gene: NDUFAF6 was added
gene: NDUFAF6 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF6 were set to 18614015; 27623250; 26741492
Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency
Adult onset movement disorder v0.2 NDUFA9 Ellen McDonagh gene: NDUFA9 was added
gene: NDUFA9 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA9 were set to 22114105
Phenotypes for gene: NDUFA9 were set to Leigh syndrome due to mitochondrial complex I deficiency
Adult onset movement disorder v0.2 NDUFA12 Ellen McDonagh gene: NDUFA12 was added
gene: NDUFA12 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA12 were set to 21617257
Phenotypes for gene: NDUFA12 were set to Leigh syndrome due to mitochondrial complex 1 deficiency
Adult onset movement disorder v0.2 NDUFA10 Ellen McDonagh gene: NDUFA10 was added
gene: NDUFA10 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA10 were set to 21150889; 28247337; 26741492
Phenotypes for gene: NDUFA10 were set to Leigh syndrome
Adult onset movement disorder v0.2 NDUFA1 Ellen McDonagh gene: NDUFA1 was added
gene: NDUFA1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NDUFA1 were set to 28247337; 17262856
Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency
Adult onset movement disorder v0.2 MUT Ellen McDonagh gene: MUT was added
gene: MUT was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type
Adult onset movement disorder v0.2 MECR Ellen McDonagh gene: MECR was added
gene: MECR was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MECR were set to 27817865
Phenotypes for gene: MECR were set to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Adult onset movement disorder v0.2 KMT2B Ellen McDonagh gene: KMT2B was added
gene: KMT2B was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT2B were set to 27992417
Phenotypes for gene: KMT2B were set to Dystonia 28, childhood-onset 617284; early-onset dystonia
Adult onset movement disorder v0.2 JPH3 Ellen McDonagh gene: JPH3 was added
gene: JPH3 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: JPH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: JPH3 were set to Huntington disease-like 2
Mode of pathogenicity for gene: JPH3 was set to Other - please provide details in the comments
Adult onset movement disorder v0.2 IVD Ellen McDonagh gene: IVD was added
gene: IVD was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IVD were set to Isovaleric acidemia
Adult onset movement disorder v0.2 HTT Ellen McDonagh gene: HTT was added
gene: HTT was added to Adult onset movement disorder. Sources: Expert Review Red
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
Adult onset movement disorder v0.2 HTRA2 Ellen McDonagh gene: HTRA2 was added
gene: HTRA2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HTRA2 were set to 18364387; 27208207; 18401856; 27696117; 23462481; 15961413
Phenotypes for gene: HTRA2 were set to Parkinson Disease, Dominant; Parkinson disease 13, 610297; 3-methylglutaconic aciduria, type VIII 617248
Adult onset movement disorder v0.2 HEXA Ellen McDonagh gene: HEXA was added
gene: HEXA was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800; Hex A pseudodeficiency 272800
Adult onset movement disorder v0.2 GFAP Ellen McDonagh gene: GFAP was added
gene: GFAP was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GFAP were set to 15732098; 14557587
Phenotypes for gene: GFAP were set to Alexander disease 203450
Adult onset movement disorder v0.2 FA2H Ellen McDonagh gene: FA2H was added
gene: FA2H was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to 19068277
Phenotypes for gene: FA2H were set to fatty acid hydroxylase-associated neurodegeneration; Spastic paraplegia 35, autosomal recessive 612319; Dystonia
Adult onset movement disorder v0.2 ETHE1 Ellen McDonagh gene: ETHE1 was added
gene: ETHE1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy 602473
Adult onset movement disorder v0.2 DLAT Ellen McDonagh gene: DLAT was added
gene: DLAT was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLAT were set to 16049940; 19891062; 20022530
Phenotypes for gene: DLAT were set to episodic dystonia; pyruvate dehydrogenase deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase E2 deficiency 245348
Adult onset movement disorder v0.2 COASY Ellen McDonagh Added phenotypes Neurodegeneration with brain iron accumulation 6 615643 for gene: COASY
Publications for gene COASY were changed from 27021474 to 24360804; 27021474
Adult onset movement disorder v0.2 ATP6AP2 Ellen McDonagh gene: ATP6AP2 was added
gene: ATP6AP2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP6AP2 were set to 23595882
Phenotypes for gene: ATP6AP2 were set to Mental retardation, X-linked, syndromic, Hedera type 300423; ?Parkinsonism with spasticity, X-linked 300911
Adult onset movement disorder v0.2 ATP1A2 Ellen McDonagh gene: ATP1A2 was added
gene: ATP1A2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A2 were set to 12539047; 12953268; 18056581
Phenotypes for gene: ATP1A2 were set to familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290
Adult onset movement disorder v0.2 ATN1 Ellen McDonagh gene: ATN1 was added
gene: ATN1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATN1 were set to Dentatorubro-pallidoluysian atrophy 125370
Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments
Adult onset movement disorder v0.2 NDUFS4 Ellen McDonagh gene: NDUFS4 was added
gene: NDUFS4 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS4 were set to 24020637
Phenotypes for gene: NDUFS4 were set to Mitochondrial complex I deficiency 252010; Leigh syndrome 256000
Adult onset movement disorder v0.2 SLC25A19 Ellen McDonagh gene: SLC25A19 was added
gene: SLC25A19 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A19 were set to 12185364; 17035501; 19798730
Phenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710; Microcephaly, Amish type 607196
Adult onset movement disorder v0.2 XPR1 Ellen McDonagh gene: XPR1 was added
gene: XPR1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: XPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: XPR1 were set to 25938945
Phenotypes for gene: XPR1 were set to Basal ganglia calcification, idiopathic, 6 616413
Adult onset movement disorder v0.2 WDR73 Ellen McDonagh gene: WDR73 was added
gene: WDR73 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to Galloway Mowat Syndrome
Adult onset movement disorder v0.2 WDR45 Ellen McDonagh gene: WDR45 was added
gene: WDR45 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: WDR45 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: WDR45 were set to 23435086; 22892189; 23176820
Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5 300894; Dystonia; beta-propeller protein-associated neurodegeneration
Adult onset movement disorder v0.2 VPS37A Ellen McDonagh gene: VPS37A was added
gene: VPS37A was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: VPS37A was set to
Phenotypes for gene: VPS37A were set to Dystonia
Adult onset movement disorder v0.2 VPS35 Ellen McDonagh gene: VPS35 was added
gene: VPS35 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: VPS35 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VPS35 were set to 23408866; 21763483; 21763482; 26547032; 22991136; 27777137; 22517097; 24854799
Phenotypes for gene: VPS35 were set to PARK17; PARKINSON DISEASE 17; Parkinson disease 17, 614203; Parkinson Disease, Dominant; late onset parkinson disease
Adult onset movement disorder v0.2 VPS13A Ellen McDonagh gene: VPS13A was added
gene: VPS13A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13A were set to 11381253; 11381254; 14663054
Phenotypes for gene: VPS13A were set to complex parkinsonism; Choreoacanthocytosis 200150
Adult onset movement disorder v0.2 UCHL1 Ellen McDonagh gene: UCHL1 was added
gene: UCHL1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: UCHL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UCHL1 were set to ?{Parkinson disease 5, susceptibility to}
Adult onset movement disorder v0.2 TUBB4A Ellen McDonagh gene: TUBB4A was added
gene: TUBB4A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB4A were set to 27809427; 24526230; 24850488; 23582646
Phenotypes for gene: TUBB4A were set to Complex parkinsonism; hypomyelinating leukodystrophy 6; ?Dystonia 4, torsion, autosomal dominant, 128101; Dystonia; hereditary whispering dysphonia
Adult onset movement disorder v0.2 TUBA1A Ellen McDonagh gene: TUBA1A was added
gene: TUBA1A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TUBA1A were set to Lissencephaly 3 611603
Adult onset movement disorder v0.2 TREX1 Ellen McDonagh gene: TREX1 was added
gene: TREX1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: TREX1 was set to
Phenotypes for gene: TREX1 were set to Dystonia
Adult onset movement disorder v0.2 TREM2 Ellen McDonagh gene: TREM2 was added
gene: TREM2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: TREM2 was set to
Phenotypes for gene: TREM2 were set to Dystonia
Adult onset movement disorder v0.2 TPK1 Ellen McDonagh gene: TPK1 was added
gene: TPK1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: TPK1 was set to
Phenotypes for gene: TPK1 were set to Dystonia
Adult onset movement disorder v0.2 TOR1A Ellen McDonagh gene: TOR1A was added
gene: TOR1A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: TOR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOR1A were set to 16537570; 9288096; 20301665; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 17503336; 11523564
Phenotypes for gene: TOR1A were set to Dystonia-1, torsion, 128100; Early-Onset Primary Dystonia; Autosomal dominant or sporadic dystonia (DYT1)
Adult onset movement disorder v0.2 TIMM8A Ellen McDonagh gene: TIMM8A was added
gene: TIMM8A was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: TIMM8A was set to
Phenotypes for gene: TIMM8A were set to Deafness-Dystonia-Optic Neuronopathy Syndrome
Adult onset movement disorder v0.2 THAP1 Ellen McDonagh gene: THAP1 was added
gene: THAP1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THAP1 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 21793105
Phenotypes for gene: THAP1 were set to Dystonia 6, torsion, 602629; Dystonia
Adult onset movement disorder v0.2 TH Ellen McDonagh gene: TH was added
gene: TH was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TH were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Phenotypes for gene: TH were set to Segawa syndrome; paediatric form of dopa responsive dystonia; infantile parkinsonism; DOPA-responsive dystonia; Segawa syndrome, recessive, 605407
Adult onset movement disorder v0.2 TBP Ellen McDonagh gene: TBP was added
gene: TBP was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: TBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBP were set to {Parkinson disease, susceptibility to}, 168600; Spinocerebellar ataxia 17, 607136
Mode of pathogenicity for gene: TBP was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset movement disorder v0.2 TAF1 Ellen McDonagh gene: TAF1 was added
gene: TAF1 was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: TAF1 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: TAF1 were set to 12928496; http://www.ncbi.nlm.nih.gov/books/NBK1155/; PMID: 26637982; PMID: 26879577; 26637982; 17668393; PMID: 17273961; PMID: 12928496; 17273961; PMID: 23184149; PMID: 2368812; 20301662; PMID: 26769797
Phenotypes for gene: TAF1 were set to SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation)
Mode of pathogenicity for gene: TAF1 was set to Other - please provide details in the comments
Adult onset movement disorder v0.2 SYNJ1 Ellen McDonagh gene: SYNJ1 was added
gene: SYNJ1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SYNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYNJ1 were set to 27435091; 27496670; 26149920; 23804563; 23804577
Phenotypes for gene: SYNJ1 were set to juvenile Parkinsonism; Early Onset Complex Disease; Parkinson disease 20, early-onset, 615530; Parkinson disease 20, early-onset
Adult onset movement disorder v0.2 SURF1 Ellen McDonagh gene: SURF1 was added
gene: SURF1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.2 SUOX Ellen McDonagh gene: SUOX was added
gene: SUOX was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUOX were set to Dystonia
Adult onset movement disorder v0.2 SUCLG1 Ellen McDonagh gene: SUCLG1 was added
gene: SUCLG1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.2 SUCLA2 Ellen McDonagh gene: SUCLA2 was added
gene: SUCLA2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.2 SPR Ellen McDonagh gene: SPR was added
gene: SPR was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPR were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22522443
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716; Dopa-Responsive Dystonia; paediatric form of dopa responsive dystonia; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716
Adult onset movement disorder v0.2 SPG11 Ellen McDonagh gene: SPG11 was added
gene: SPG11 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 27820618; 19224311; 21381113
Phenotypes for gene: SPG11 were set to Complex parkinsonism; hereditary spastic paraparesis; Early Onset Complex Disease; early onset parkinsonism, levo dopa responsve
Adult onset movement disorder v0.2 SNCAIP Ellen McDonagh gene: SNCAIP was added
gene: SNCAIP was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SNCAIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNCAIP were set to Parkinson Disease, Dominant/Recessive
Adult onset movement disorder v0.2 SNCA Ellen McDonagh gene: SNCA was added
gene: SNCA was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SNCA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNCA were set to Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4); Dementia, Lewy body, 127750; Parkinson disease 4, 605543; Parkinson disease 1, 168601
Mode of pathogenicity for gene: SNCA was set to Other - please provide details in the comments
Adult onset movement disorder v0.2 SLC6A5 Ellen McDonagh gene: SLC6A5 was added
gene: SLC6A5 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A5 were set to 16751771
Phenotypes for gene: SLC6A5 were set to 614618 HYPEREKPLEXIA 3
Adult onset movement disorder v0.2 SLC6A3 Ellen McDonagh gene: SLC6A3 was added
gene: SLC6A3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A3 were set to PMID: 24613933
Phenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135
Adult onset movement disorder v0.2 SLC46A1 Ellen McDonagh gene: SLC46A1 was added
gene: SLC46A1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SLC46A1 was set to
Phenotypes for gene: SLC46A1 were set to Dystonia
Adult onset movement disorder v0.2 SLC41A1 Ellen McDonagh gene: SLC41A1 was added
gene: SLC41A1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SLC41A1 was set to
Publications for gene: SLC41A1 were set to 24661466 - A novel heterozygous variant (R244H) reported in the SLC41A1 gene was identified in one early onset PD patient, which not present either in 479 PD patients or 525 normal controls with age onset >50; 27612022 and 26308152 - reduced risk of PD association; 21812739 and 20683486 novel heterozygous variants identified in PD patients
Phenotypes for gene: SLC41A1 were set to Parkinson disease (Yan (2011) Int J Neurosci 121,632)
Adult onset movement disorder v0.2 SLC30A10 Ellen McDonagh gene: SLC30A10 was added
gene: SLC30A10 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A10 were set to 22341971; 22341972; 22926781; 22934317; 25778823
Phenotypes for gene: SLC30A10 were set to Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia
Adult onset movement disorder v0.2 SLC2A1 Ellen McDonagh gene: SLC2A1 was added
gene: SLC2A1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLC2A1 were set to 18451999; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 19630075; 18577546
Phenotypes for gene: SLC2A1 were set to EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; GLUT1 deficiency syndrome 2; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2, childhood onset; Dystonia; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 DEFICIENCY SYNDROME 1; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
Adult onset movement disorder v0.2 SLC20A2 Ellen McDonagh gene: SLC20A2 was added
gene: SLC20A2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC20A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC20A2 were set to Basal ganglia calcification, idiopathic, 1 213600
Adult onset movement disorder v0.2 SLC1A3 Ellen McDonagh gene: SLC1A3 was added
gene: SLC1A3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC1A3 were set to 27829685; 16116111; 19139306
Phenotypes for gene: SLC1A3 were set to EPISODIC ATAXIA, TYPE 6
Adult onset movement disorder v0.2 SLC19A3 Ellen McDonagh gene: SLC19A3 was added
gene: SLC19A3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483
Adult onset movement disorder v0.2 SGCE Ellen McDonagh gene: SGCE was added
gene: SGCE was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SGCE were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 12325078; 11528394
Phenotypes for gene: SGCE were set to Myoclonus dystonia syndrome; Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900
Adult onset movement disorder v0.2 SERAC1 Ellen McDonagh gene: SERAC1 was added
gene: SERAC1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERAC1 were set to 27186703; 28482397; 27604308; 28778788; 29205472; 22683713; 16527507
Phenotypes for gene: SERAC1 were set to MEGDEL syndrome; Dystonia; MEGDHEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; Lesions in the basal ganglia
Adult onset movement disorder v0.2 SDHAF1 Ellen McDonagh gene: SDHAF1 was added
gene: SDHAF1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SDHAF1 was set to
Phenotypes for gene: SDHAF1 were set to Dystonia
Adult onset movement disorder v0.2 SDHA Ellen McDonagh gene: SDHA was added
gene: SDHA was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.2 SCP2 Ellen McDonagh gene: SCP2 was added
gene: SCP2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SCP2 was set to
Publications for gene: SCP2 were set to PMID: 16685654
Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy, 613724
Adult onset movement disorder v0.2 SCN9A Ellen McDonagh gene: SCN9A was added
gene: SCN9A was added to Adult onset movement disorder. Sources: Expert Review Red
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; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863; Dysosteosclerosis; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Insensitivity to pain, channelopathy-associated, 243000; Erythermalgia, primary, 133020; Erythermalgia, Primary
Adult onset movement disorder v0.2 SCN8A Ellen McDonagh gene: SCN8A was added
gene: SCN8A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN8A were set to 26677014
Phenotypes for gene: SCN8A were set to epilepsy; paroxysmal kinesigenic dyskinesias
Adult onset movement disorder v0.2 SCN1A Ellen McDonagh gene: SCN1A was added
gene: SCN1A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN1A were set to 16054936; 19332696
Phenotypes for gene: SCN1A were set to Dravet syndrome; several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3
Adult onset movement disorder v0.2 SAMHD1 Ellen McDonagh gene: SAMHD1 was added
gene: SAMHD1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SAMHD1 was set to
Phenotypes for gene: SAMHD1 were set to Dystonia
Adult onset movement disorder v0.2 RNASEH2C Ellen McDonagh gene: RNASEH2C was added
gene: RNASEH2C was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: RNASEH2C was set to
Phenotypes for gene: RNASEH2C were set to Dystonia
Adult onset movement disorder v0.2 RNASEH2B Ellen McDonagh gene: RNASEH2B was added
gene: RNASEH2B was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: RNASEH2B was set to
Phenotypes for gene: RNASEH2B were set to Dystonia
Adult onset movement disorder v0.2 RNASEH2A Ellen McDonagh gene: RNASEH2A was added
gene: RNASEH2A was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: RNASEH2A was set to
Phenotypes for gene: RNASEH2A were set to Dystonia
Adult onset movement disorder v0.2 RAB39B Ellen McDonagh gene: RAB39B was added
gene: RAB39B was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: RAB39B 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: RAB39B were set to 27838047; 27459931; 27066548; 26399558; 2639955; 27448726; 27943471; 25434005; 27694831
Phenotypes for gene: RAB39B were set to Waisman syndrome 311510; early-onset parkinsonism and intellectual disability
Adult onset movement disorder v0.2 QDPR Ellen McDonagh gene: QDPR was added
gene: QDPR was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: QDPR was set to
Phenotypes for gene: QDPR were set to Dystonia
Adult onset movement disorder v0.2 PTS Ellen McDonagh gene: PTS was added
gene: PTS was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PTS was set to
Phenotypes for gene: PTS were set to Dystonia
Adult onset movement disorder v0.2 PTEN Ellen McDonagh gene: PTEN was added
gene: PTEN was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PTEN was set to
Phenotypes for gene: PTEN were set to Dystonia
Adult onset movement disorder v0.2 PSEN1 Ellen McDonagh gene: PSEN1 was added
gene: PSEN1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PSEN1 was set to
Phenotypes for gene: PSEN1 were set to Dystonia
Adult onset movement disorder v0.2 PRRT2 Ellen McDonagh gene: PRRT2 was added
gene: PRRT2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRRT2 were set to 22744660; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22101681; 22120146; 22399141
Phenotypes for gene: PRRT2 were set to SEIZURES, BENIGN FAMILIAL INFANTILE, 2; episodic kinesigenic dyskinesia; EPISODIC KINESIGENIC DYSKINESIA 1; dystonia and occasionally hemiplegic migraine and epilepsy; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
Adult onset movement disorder v0.2 PRNP Ellen McDonagh gene: PRNP was added
gene: PRNP was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRNP were set to Cerebral amyloid angiopathy, PRNP-related 137440; Huntington disease-like 1 603218; Gerstmann-Straussler disease 137440; Creutzfeldt-Jakob disease 123400
Adult onset movement disorder v0.2 PRKRA Ellen McDonagh gene: PRKRA was added
gene: PRKRA was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKRA were set to 24142417; 22842711; 26990861; 25142429; 18420150 - a novel heterozygous variant c.266_267delAT; PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance; p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).; 25737287; 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous; 25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism; 18420150; 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L); 22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation; 18243799; 25914261
Phenotypes for gene: PRKRA were set to Early-Onset Generalized Dystonia-Parkinsonism; Early Onset Complex Disease; Dystonia 16; early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Dystonia; Dystonia 16, 612067
Adult onset movement disorder v0.2 PRKN Ellen McDonagh gene: PRKN was added
gene: PRKN was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKN were set to PMID: 22956510
Phenotypes for gene: PRKN were set to Parkinson Disease, Juvenile; juvenile parkinsonism/dystonia; Dystonia; Parkinson disease, juvenile, type 2; Parkinson Disease 2, Autosomal Recessive Juvenile
Adult onset movement disorder v0.2 PNPT1 Ellen McDonagh gene: PNPT1 was added
gene: PNPT1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PNPT1 was set to
Phenotypes for gene: PNPT1 were set to Dystonia
Adult onset movement disorder v0.2 PNKD Ellen McDonagh gene: PNKD was added
gene: PNKD was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PNKD were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 15262732; 15496428; 15824259
Phenotypes for gene: PNKD were set to Familial Paroxysmal Nonkinesigenic Dyskinesia; PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; Paroxysmal nonkinesigenic dyskinesia, 118800
Adult onset movement disorder v0.2 PLP1 Ellen McDonagh gene: PLP1 was added
gene: PLP1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PLP1 was set to
Phenotypes for gene: PLP1 were set to Dystonia
Adult onset movement disorder v0.2 PINK1 Ellen McDonagh gene: PINK1 was added
gene: PINK1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PINK1 were set to Parkinson Disease 6, Autosomal Recessive Early-Onset; Parkinson disease 6, early onset, 605909; Dystonia
Adult onset movement disorder v0.2 PDP1 Ellen McDonagh gene: PDP1 was added
gene: PDP1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDP1 were set to 19184109; 15855260
Adult onset movement disorder v0.2 PDHX Ellen McDonagh gene: PDHX was added
gene: PDHX was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PDHX was set to
Phenotypes for gene: PDHX were set to Dystonia
Adult onset movement disorder v0.2 PDHA1 Ellen McDonagh gene: PDHA1 was added
gene: PDHA1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PDHA1 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: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency 312170
Adult onset movement disorder v0.2 PDGFRB Ellen McDonagh gene: PDGFRB was added
gene: PDGFRB was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFRB were set to 27984190; 23255827; 26129893; 25292412
Phenotypes for gene: PDGFRB were set to Basal ganglia calcification, idiopathic, 4 615007
Adult onset movement disorder v0.2 PDGFB Ellen McDonagh gene: PDGFB was added
gene: PDGFB was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PDGFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFB were set to 26129893
Phenotypes for gene: PDGFB were set to Basal ganglia calcification, idiopathic, 5 615483
Adult onset movement disorder v0.2 PDE10A Ellen McDonagh gene: PDE10A was added
gene: PDE10A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PDE10A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE10A were set to 27058447; 27058446
Phenotypes for gene: PDE10A were set to Striatal degeneration, autosomal dominant 616922; Dyskinesia, limb and orofacial, infantile-onset 616921
Adult onset movement disorder v0.2 PCDH12 Ellen McDonagh gene: PCDH12 was added
gene: PCDH12 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 27164683
Phenotypes for gene: PCDH12 were set to microcephaly; epilepsy; midbrain abnormalities; intellectual disability; hypothalamic abnormalities; perithalamic hyperechogenicity; periventricular hyperechogenicity
Adult onset movement disorder v0.2 PARK7 Ellen McDonagh gene: PARK7 was added
gene: PARK7 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PARK7 were set to 606324; Parkinson disease 7 autosomal recessive early-onset
Adult onset movement disorder v0.2 PANK2 Ellen McDonagh gene: PANK2 was added
gene: PANK2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to pantothenate kinase-associated neurodegeneration; Neurodegeneration with brain iron accumulation 1; Early Onset Complex Disease; Dystonia; 234200
Adult onset movement disorder v0.2 OPA3 Ellen McDonagh gene: OPA3 was added
gene: OPA3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OPA3 were set to 25201222; 11668429; 20301646; 24944951; 25657044
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome
Adult onset movement disorder v0.2 OCLN Ellen McDonagh gene: OCLN was added
gene: OCLN was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OCLN were set to 20727516
Phenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria 251290
Adult onset movement disorder v0.2 NR4A2 Ellen McDonagh gene: NR4A2 was added
gene: NR4A2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NR4A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NR4A2 were set to 15184637; 12496759; 15276233; 12827450; 27012974; 24126627; 15390059; 25543265
Phenotypes for gene: NR4A2 were set to Parkinson Disease, Dominant/Recessive (susceptibility to)
Adult onset movement disorder v0.2 NPC2 Ellen McDonagh gene: NPC2 was added
gene: NPC2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NPC2 was set to
Phenotypes for gene: NPC2 were set to Dystonia
Adult onset movement disorder v0.2 NDUFV1 Ellen McDonagh gene: NDUFV1 was added
gene: NDUFV1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFV1 were set to 10080174; 26345448
Adult onset movement disorder v0.2 NDUFS8 Ellen McDonagh gene: NDUFS8 was added
gene: NDUFS8 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.2 NDUFS7 Ellen McDonagh gene: NDUFS7 was added
gene: NDUFS7 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.2 NDUFAF2 Ellen McDonagh gene: NDUFAF2 was added
gene: NDUFAF2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF2 were set to 16200211; 20571988; 20818383
Adult onset movement disorder v0.2 NDUFA2 Ellen McDonagh gene: NDUFA2 was added
gene: NDUFA2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA2 were set to 18513682
Adult onset movement disorder v0.2 MT-ND6 Ellen McDonagh gene: MT-ND6 was added
gene: MT-ND6 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND6 were set to Leber Optic Atrophy And Dystonia
Adult onset movement disorder v0.2 MT-ND1 Ellen McDonagh gene: MT-ND1 was added
gene: MT-ND1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Adult onset movement disorder v0.2 MT-ATP6 Ellen McDonagh gene: MT-ATP6 was added
gene: MT-ATP6 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Publications for gene: MT-ATP6 were set to 1550128; 11916326
Adult onset movement disorder v0.2 MR1 Ellen McDonagh gene: MR1 was added
gene: MR1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: MR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MR1 were set to Paroxysmal/Episodic dystonia; Dystonia
Adult onset movement disorder v0.2 MPV17 Ellen McDonagh gene: MPV17 was added
gene: MPV17 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: MPV17 was set to
Phenotypes for gene: MPV17 were set to Dystonia
Adult onset movement disorder v0.2 MMADHC Ellen McDonagh gene: MMADHC was added
gene: MMADHC was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: MMADHC was set to
Phenotypes for gene: MMADHC were set to Dystonia
Adult onset movement disorder v0.2 MCOLN1 Ellen McDonagh gene: MCOLN1 was added
gene: MCOLN1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: MCOLN1 was set to
Phenotypes for gene: MCOLN1 were set to Dystonia
Adult onset movement disorder v0.2 MAT1A Ellen McDonagh gene: MAT1A was added
gene: MAT1A was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: MAT1A was set to
Phenotypes for gene: MAT1A were set to Dystonia
Adult onset movement disorder v0.2 MAPT Ellen McDonagh gene: MAPT was added
gene: MAPT was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPT were set to 28334843; 20301678
Phenotypes for gene: MAPT were set to Supranuclear palsy, progressive, 601104; clinical presentation suggestive of cortico-basal/PSP syndrome; Supranuclear palsy, progressive atypical, 260540; {Parkinson disease, susceptibility to}, 168600; Pick disease, 172700; Tauopathy and r; Dementia, frontotemporal, with or without parkinsonism, 600274; PARKINSON-DEMENTIA SYNDROME
Adult onset movement disorder v0.2 LYST Ellen McDonagh gene: LYST was added
gene: LYST was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 11857544; 9215680; 8896560; 9215679; 23436631
Phenotypes for gene: LYST were set to albinism; peripheral neuropathy; Chediak-Higashi syndrome 214500; Parkinsonism
Adult onset movement disorder v0.2 LRRK2 Ellen McDonagh gene: LRRK2 was added
gene: LRRK2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: LRRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LRRK2 were set to 28395803; 28395805; 27090875; 25391693; 28395802; 28395804
Phenotypes for gene: LRRK2 were set to LRRK2 G2019S mutation; Parkinson Disease, Dominant; Parkinson disease 8, 607060; PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; Autosomal dominant Parkinson's disease; Parkinson Disease 8, Autosomal Dominant
Mode of pathogenicity for gene: LRRK2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset movement disorder v0.2 L2HGDH Ellen McDonagh gene: L2HGDH was added
gene: L2HGDH was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: L2HGDH was set to
Phenotypes for gene: L2HGDH were set to Dystonia
Adult onset movement disorder v0.2 KCNQ3 Ellen McDonagh gene: KCNQ3 was added
gene: KCNQ3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ3 were set to Seizures, benign neonatal, type 2, 121201
Adult onset movement disorder v0.2 KCNQ2 Ellen McDonagh gene: KCNQ2 was added
gene: KCNQ2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ2 were set to Myokymia, 121200
Adult onset movement disorder v0.2 KCNK18 Ellen McDonagh gene: KCNK18 was added
gene: KCNK18 was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: KCNK18 was set to
Publications for gene: KCNK18 were set to 20871611; 22355750
Phenotypes for gene: KCNK18 were set to MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Adult onset movement disorder v0.2 KCNA1 Ellen McDonagh gene: KCNA1 was added
gene: KCNA1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNA1 were set to 17575281
Phenotypes for gene: KCNA1 were set to EPISODIC ATAXIA, TYPE 1; myokymia with periodic ataxia
Adult onset movement disorder v0.2 ISG15 Ellen McDonagh gene: ISG15 was added
gene: ISG15 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ISG15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISG15 were set to 25307056; 22859821
Phenotypes for gene: ISG15 were set to Immunodeficiency 38 616126
Adult onset movement disorder v0.2 ISCA-37468-Loss Ellen McDonagh Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females)
Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621
Phenotypes for Region: ISCA-37468-Loss were set to short stature; severe intellectual disability; lip-smacking; exiting behavior; autistic features; hypotonia; stereotypical hand movements; eleveated serotonin levels; episodes of sudden loss of muscle tone
Adult onset movement disorder v0.2 IPPK Ellen McDonagh gene: IPPK was added
gene: IPPK was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: IPPK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IPPK were set to Early Onset Complex Disease
Adult onset movement disorder v0.2 IFIH1 Ellen McDonagh gene: IFIH1 was added
gene: IFIH1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7 615846
Adult onset movement disorder v0.2 HPRT1 Ellen McDonagh gene: HPRT1 was added
gene: HPRT1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: HPRT1 was set to
Phenotypes for gene: HPRT1 were set to Dystonia
Adult onset movement disorder v0.2 HPCA Ellen McDonagh gene: HPCA was added
gene: HPCA was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: HPCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPCA were set to 30145809; 25799108
Phenotypes for gene: HPCA were set to Dystonia 2, torsion, autosomal recessive, 224500; generalized dystonia with additional neurological features; childhood-onset generalized dystonia; adolescence-onset segmental dystonia
Adult onset movement disorder v0.2 HIBCH Ellen McDonagh gene: HIBCH was added
gene: HIBCH was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency 250620
Adult onset movement disorder v0.2 GRN Ellen McDonagh gene: GRN was added
gene: GRN was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRN were set to 20301545; 17923627
Phenotypes for gene: GRN were set to Complex parkinsonism; frontotemporal lobar degeneration with TDP43 inclusions; clinical presentation suggestive of cortico-basal/PSP syndrome
Adult onset movement disorder v0.2 GNAO1 Ellen McDonagh gene: GNAO1 was added
gene: GNAO1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAO1 were set to 27068059; 27625011; 26060304; 25966631; 28357411
Phenotypes for gene: GNAO1 were set to Neurodevelopmental disorder with involuntary movements, 617493
Adult onset movement disorder v0.2 GNAL Ellen McDonagh gene: GNAL was added
gene: GNAL was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: GNAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAL were set to 23222958; 27093447; 27222887; 24729450; 26725140; 23759320; 27123488; 24151159; 23449625; 25847575; 26810727; 24408567; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 26365774; 26506956; 25382112; 24535567
Phenotypes for gene: GNAL were set to Dystonia 25, 615073; adult-onset cranio-cervical dystonia
Adult onset movement disorder v0.2 GLRB Ellen McDonagh gene: GLRB was added
gene: GLRB was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRB were set to 23238346; 11929858; 21391991
Phenotypes for gene: GLRB were set to 614619 HYPEREKPLEXIA 2
Adult onset movement disorder v0.2 GLRA1 Ellen McDonagh gene: GLRA1 was added
gene: GLRA1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GLRA1 were set to 20301437
Phenotypes for gene: GLRA1 were set to 149400 HYPEREKPLEXIA, HEREDITARY 1
Adult onset movement disorder v0.2 GIGYF2 Ellen McDonagh gene: GIGYF2 was added
gene: GIGYF2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: GIGYF2 was set to
Publications for gene: GIGYF2 were set to 19279319; 18358451; 19250854; 201788319; 18923002; 20060621; 20685231; 19482505; 19449032; 19321232; 26134514; 19429085; 20044296
Phenotypes for gene: GIGYF2 were set to {Parkinson disease 11}; Susceptibility to Parkinson disease 11, 607688
Adult onset movement disorder v0.2 GCH1 Ellen McDonagh gene: GCH1 was added
gene: GCH1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GCH1 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Phenotypes for gene: GCH1 were set to Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD)
Adult onset movement disorder v0.2 GCDH Ellen McDonagh gene: GCDH was added
gene: GCDH was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCDH were set to 8900228; 8900227; 10699052; 11174631; 7795610
Adult onset movement disorder v0.2 GBA Ellen McDonagh gene: GBA was added
gene: GBA was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GBA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GBA were set to 27648471; 27717005; 27632223; 29400127; 27779773
Phenotypes for gene: GBA were set to {Parkinson disease, late-onset, susceptibility to}, 168600
Adult onset movement disorder v0.2 GAMT Ellen McDonagh gene: GAMT was added
gene: GAMT was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: GAMT was set to
Phenotypes for gene: GAMT were set to Dystonia
Adult onset movement disorder v0.2 FTL Ellen McDonagh gene: FTL was added
gene: FTL was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FTL were set to http://www.ncbi.nlm.nih.gov/pubmed/24209436; 24209436
Phenotypes for gene: FTL were set to Neurodegeneration with brain iron accumulation 3 606159; movement disorder
Adult onset movement disorder v0.2 FOXRED1 Ellen McDonagh gene: FOXRED1 was added
gene: FOXRED1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: FOXRED1 was set to
Phenotypes for gene: FOXRED1 were set to Dystonia
Adult onset movement disorder v0.2 FOXP2 Ellen McDonagh gene: FOXP2 was added
gene: FOXP2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP2 were set to 22434823; 11586359; 15877281
Phenotypes for gene: FOXP2 were set to Speech-language disorder-1 602081
Adult onset movement disorder v0.2 FOXG1 Ellen McDonagh gene: FOXG1 was added
gene: FOXG1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: FOXG1 was set to
Phenotypes for gene: FOXG1 were set to Dystonia
Adult onset movement disorder v0.2 FBXO7 Ellen McDonagh gene: FBXO7 was added
gene: FBXO7 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXO7 were set to Parkinson disease 15, autosomal recessive, 260300; Parkinson Disease, Recessive; Early Onset Complex Disease; juvenile parkinsonism; Dystonia; parkinsonian-pyramidal syndrome
Adult onset movement disorder v0.2 FASTKD2 Ellen McDonagh gene: FASTKD2 was added
gene: FASTKD2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: FASTKD2 was set to
Phenotypes for gene: FASTKD2 were set to Dystonia
Adult onset movement disorder v0.2 ERCC6 Ellen McDonagh gene: ERCC6 was added
gene: ERCC6 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ERCC6 was set to
Phenotypes for gene: ERCC6 were set to Dystonia
Adult onset movement disorder v0.2 EIF4G1 Ellen McDonagh gene: EIF4G1 was added
gene: EIF4G1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: EIF4G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EIF4G1 were set to Parkinsons disease 18, 614251
Adult onset movement disorder v0.2 EARS2 Ellen McDonagh gene: EARS2 was added
gene: EARS2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: EARS2 was set to
Phenotypes for gene: EARS2 were set to Dystonia
Adult onset movement disorder v0.2 DRD5 Ellen McDonagh gene: DRD5 was added
gene: DRD5 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: DRD5 was set to
Publications for gene: DRD5 were set to PMID: 17133500
Phenotypes for gene: DRD5 were set to {Blepharospasm, primary benign}, 606798
Adult onset movement disorder v0.2 DRD2 Ellen McDonagh gene: DRD2 was added
gene: DRD2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: DRD2 was set to
Publications for gene: DRD2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1414/
Phenotypes for gene: DRD2 were set to Dystonia, myoclonic, 159900
Adult onset movement disorder v0.2 DNAJC6 Ellen McDonagh gene: DNAJC6 was added
gene: DNAJC6 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC6 were set to 26528954; 23211418; 27687717; 26703368; 22563501
Phenotypes for gene: DNAJC6 were set to Parkinson disease 19a, juvenile-onset; Parkinson disease 19, juvenile-onset, 615528; Parkinson disease 19b, early-onset
Adult onset movement disorder v0.2 DDC Ellen McDonagh gene: DDC was added
gene: DDC was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: DDC was set to
Phenotypes for gene: DDC were set to Dystonia
Adult onset movement disorder v0.2 DCTN1 Ellen McDonagh gene: DCTN1 was added
gene: DCTN1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DCTN1 were set to 20945553 (Gene Reviews); 24343258; 20437543; 19136952; 27132499; 27346608
Phenotypes for gene: DCTN1 were set to Perry syndrome
Adult onset movement disorder v0.2 DCAF17 Ellen McDonagh gene: DCAF17 was added
gene: DCAF17 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome; Dystonia
Adult onset movement disorder v0.2 DCAF10 Ellen McDonagh gene: DCAF10 was added
gene: DCAF10 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: DCAF10 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.2 CYP27A1 Ellen McDonagh gene: CYP27A1 was added
gene: CYP27A1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: CYP27A1 was set to
Phenotypes for gene: CYP27A1 were set to Dystonia
Adult onset movement disorder v0.2 CSTB Ellen McDonagh gene: CSTB was added
gene: CSTB was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTB were set to 26843564
Phenotypes for gene: CSTB were set to microcephaly and severe dyskinesia (26843564); Epilepsy, progressive myoclonic 1A, 254800
Adult onset movement disorder v0.2 CSF1R Ellen McDonagh gene: CSF1R was added
gene: CSF1R was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSF1R were set to 23787135
Phenotypes for gene: CSF1R were set to dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; diffuse leukoencephalopathy with spheroids
Adult onset movement disorder v0.2 CP Ellen McDonagh gene: CP was added
gene: CP was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Cerebellar ataxia 604290; Aceruloplasminemia; Hypoceruloplasminemia, hereditary 604290; Dystonia; Hemosiderosis, systemic, due to aceruloplasminemia 604290
Adult onset movement disorder v0.2 COX15 Ellen McDonagh gene: COX15 was added
gene: COX15 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.2 COX10 Ellen McDonagh gene: COX10 was added
gene: COX10 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX10 were set to 10767350
Adult onset movement disorder v0.2 COASY Ellen McDonagh gene: COASY was added
gene: COASY was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 27021474
Phenotypes for gene: COASY were set to COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 6
Adult onset movement disorder v0.2 CIZ1 Ellen McDonagh gene: CIZ1 was added
gene: CIZ1 was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: CIZ1 was set to
Phenotypes for gene: CIZ1 were set to Dystonia 23, 614860
Adult onset movement disorder v0.2 CHMP2B Ellen McDonagh gene: CHMP2B was added
gene: CHMP2B was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: CHMP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHMP2B were set to familial frontotemporal lobar degeneration (ALS17); Dystonia; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Adult onset movement disorder v0.2 CHCHD2 Ellen McDonagh gene: CHCHD2 was added
gene: CHCHD2 was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHCHD2 were set to Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015; 26067110; 26067114; 25662902
Phenotypes for gene: CHCHD2 were set to 616710; Parkinson disease 22, autosomal dominant
Adult onset movement disorder v0.2 CACNB4 Ellen McDonagh gene: CACNB4 was added
gene: CACNB4 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNB4 were set to 10762541
Phenotypes for gene: CACNB4 were set to EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EPISODIC ATAXIA, TYPE 5
Adult onset movement disorder v0.2 CACNA1A Ellen McDonagh gene: CACNA1A was added
gene: CACNA1A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1A were set to 17575281; 21734179
Phenotypes for gene: CACNA1A were set to familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500
Adult onset movement disorder v0.2 C9orf72 Ellen McDonagh gene: C9orf72 was added
gene: C9orf72 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: C9orf72 were set to http://www.ncbi.nlm.nih.gov/pubmed/25326098; 25326098
Phenotypes for gene: C9orf72 were set to (Hexanucleotideexpansion); complex parkinsonism; clinical presentation suggestive of cortico-basal/PSP syndrome
Mode of pathogenicity for gene: C9orf72 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset movement disorder v0.2 C19orf12 Ellen McDonagh gene: C19orf12 was added
gene: C19orf12 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to neurodegeneration with brain iron accumulation-4; mitochondrial membrane protein-associated neurodegeneration; Dystonia
Adult onset movement disorder v0.2 BDNF Ellen McDonagh gene: BDNF was added
gene: BDNF was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: BDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BDNF were set to 23649659; 27780732
Phenotypes for gene: BDNF were set to Central hypoventilation syndrome, congenital 209880
Adult onset movement disorder v0.2 BCS1L Ellen McDonagh gene: BCS1L was added
gene: BCS1L was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.2 BCAP31 Ellen McDonagh gene: BCAP31 was added
gene: BCAP31 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BCAP31 were set to 28332767; 24011989
Phenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475; DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Adult onset movement disorder v0.2 AUH Ellen McDonagh gene: AUH was added
gene: AUH was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: AUH was set to
Phenotypes for gene: AUH were set to Dystonia
Adult onset movement disorder v0.2 ATXN3 Ellen McDonagh gene: ATXN3 was added
gene: ATXN3 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ATXN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATXN3 were set to (CAGexpansion); familial parkinsonism
Mode of pathogenicity for gene: ATXN3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset movement disorder v0.2 ATXN2 Ellen McDonagh gene: ATXN2 was added
gene: ATXN2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ATXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATXN2 were set to (CAGexpansion); familial parkinsonism
Mode of pathogenicity for gene: ATXN2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset movement disorder v0.2 ATP7B Ellen McDonagh gene: ATP7B was added
gene: ATP7B was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 20301685
Phenotypes for gene: ATP7B were set to Wilson disease 277900; Dystonia
Adult onset movement disorder v0.2 ATP1A3 Ellen McDonagh gene: ATP1A3 was added
gene: ATP1A3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A3 were set to 22842232; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22850527
Phenotypes for gene: ATP1A3 were set to CAPOS syndrome; rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; Rapid-Onset Dystonia-Parkinsonism; Dystonia-12
Adult onset movement disorder v0.2 ATP13A2 Ellen McDonagh gene: ATP13A2 was added
gene: ATP13A2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 21060012
Phenotypes for gene: ATP13A2 were set to Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb Syndrome
Adult onset movement disorder v0.2 ATM Ellen McDonagh gene: ATM was added
gene: ATM was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Dystonia; Ataxia telangiectasia
Adult onset movement disorder v0.2 ARX Ellen McDonagh gene: ARX was added
gene: ARX was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ARX was set to
Phenotypes for gene: ARX were set to Dystonia
Adult onset movement disorder v0.2 ARSA Ellen McDonagh gene: ARSA was added
gene: ARSA was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ARSA was set to
Phenotypes for gene: ARSA were set to Dystonia
Adult onset movement disorder v0.2 APTX Ellen McDonagh gene: APTX was added
gene: APTX was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Dystonia
Adult onset movement disorder v0.2 AP1S2 Ellen McDonagh Source Expert Review Red was added to AP1S2.
Added phenotypes Dystonia for gene: AP1S2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.2 AP1S2 Ellen McDonagh gene: AP1S2 was added
gene: AP1S2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AP1S2 were set to 17617514; 18428203; 23756445
Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5 304340
Adult onset movement disorder v0.2 ANO3 Ellen McDonagh gene: ANO3 was added
gene: ANO3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ANO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANO3 were set to 27392807; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 24442708; 25847575; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863
Phenotypes for gene: ANO3 were set to familial form of cranio-cervical dystonia; Dystonia 24, 615034
Adult onset movement disorder v0.2 AIFM1 Ellen McDonagh gene: AIFM1 was added
gene: AIFM1 was added to Adult onset movement disorder. Sources: Expert Review Red
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 20362274
Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6 300816
Adult onset movement disorder v0.2 AFG3L2 Ellen McDonagh gene: AFG3L2 was added
gene: AFG3L2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: AFG3L2 was set to
Phenotypes for gene: AFG3L2 were set to Dystonia
Adult onset movement disorder v0.2 ADCY5 Ellen McDonagh gene: ADCY5 was added
gene: ADCY5 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADCY5 were set to 11310626; 24700542
Phenotypes for gene: ADCY5 were set to dystonia; Familial dyskinesia 606703; Dyskinesia, familial, with facial myokymia, 606703
Adult onset movement disorder v0.2 ADAR Ellen McDonagh gene: ADAR was added
gene: ADAR was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 23001123; 28139822
Phenotypes for gene: ADAR were set to dystonia; Aicardi-Goutieres syndrome 6, 615010
Adult onset movement disorder v0.2 ACTB Ellen McDonagh gene: ACTB was added
gene: ACTB was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ACTB was set to
Phenotypes for gene: ACTB were set to Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
Adult onset movement disorder v0.0 Ellen McDonagh Added Panel Adult onset movement disorder
Set panel types to: GMS Rare Disease