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[
{
"created": "2024-05-01T12:33:35.361569Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "4.1",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version 4.0 has been signed off on 2024-05-01",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-05-01T12:33:02.083399Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "4.0",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "promoted panel to version 4.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-10-10T17:09:46.737602Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.19",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q1_23_promote_green was removed from gene: SPTAN1.",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:09:35.388107Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.19",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q4_22_promote_green was removed from gene: COQ4.",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:08:16.706312Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.19",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:08:16.686207Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.19",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: SPG7: The mode of inheritance of this gene has been updated to XX following NHS Genomic Medicine Service approval.",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:08:16.671438Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.19",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:07:55.732843Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.18",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to SPTAN1.\nSource NHS GMS was added to SPTAN1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:07:55.563133Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.18",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:07:55.358701Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.18",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to COQ4.\nSource NHS GMS was added to COQ4.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2023-08-23T17:04:46.982347Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: COQ4 were changed from Adult-onset ataxia-spasticity spectrum disease; Hereditary spastic paraparesis, MONDO:0019064; Cerebellar ataxia, MONDO:0000437 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2023-08-23T17:04:34.645452Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.16",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: COQ4: Changed phenotypes to: Coenzyme Q10 deficiency, primary, 7, OMIM:616276",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2023-08-15T15:53:33.293573Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.16",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064 to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-07-31T14:24:01.987460Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.15",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version 3.14 has been signed off on 2023-07-31",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-07-31T13:53:24.319411Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.14",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on STR: ATXN10_ATTCT",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2023-07-31T13:53:12.283842Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.14",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified STR: ATXN10_ATTCT as Green List (high evidence)",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2023-07-31T13:53:12.275511Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.14",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Str: atxn10_attct has been classified as Green List (High Evidence).",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2023-07-31T13:53:05.467842Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.13",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag watchlist was removed from STR: ATXN10_ATTCT.\nTag Q3_23_promote_green was removed from STR: ATXN10_ATTCT.",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2023-07-28T11:48:54.730480Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: UCHL1 as Amber List (moderate evidence)",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-07-28T11:48:54.727563Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-07-28T11:48:54.710850Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: uchl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-07-28T11:38:49.233502Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_23_promote_green tag was added to gene: UCHL1.\nTag Q3_23_MOI tag was added to gene: UCHL1.",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-07-28T11:38:02.886750Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: UCHL1: Added comment: Spasticity was reported in at least six families carrying heterozygous UCHL1 variants (PMID: 35986737, figure 2 & table S5). Overall, the disease onset for Spastic paraplegia 79A, autosomal dominant, OMIM:620221 had a median of 49 years (12-70years).; Changed rating: GREEN; Changed publications to: 35986737",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:28:37.433593Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221 to Spastic paraplegia 79B, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:24:35.926465Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209 to Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-06-29T16:41:10.997031Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_23_promote_green tag was added to STR: ATXN10_ATTCT.",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2023-06-29T16:40:57.153646Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed STR: ATXN10_ATTCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2023-06-08T11:22:37.810272Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: PRNP: Added comment: Amongst the variable phenotypes seen in carriers of PRNP variants, features of Gerstmann-Straussler disease (OMIM: 137440) have been associated with eight PRNP variants in unrelated cases (p.P105L, p.D178N, p.P102L, p.A117V, p.F198S, p.Q217R, p.G131V, p.H187R (PMIDs: 7902971, 1699173, 1363810, 11709001, 7902972, 19228673).; Changed rating: GREEN; Changed phenotypes to: Gerstmann-Straussler disease, OMIM: 137440",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-06-08T11:21:28.526269Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: PRNP were set to 30240140; 8250529; 34746379; 28195350; 16227536; 19228673; 1699173; 7902971; 11709001; 10581485; 10953183; 1363810",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-06-08T11:18:31.728119Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.9",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: PRNP were set to 30240140; 8250529; 34746379; 28195350; 16227536; 19228673; 1699173; 7902971; 11709001; 10581485; 10953183",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-06-08T11:04:19.561043Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: PRNP were changed from Gerstmann-Straussler disease, OMIM: 137440 to Gerstmann-Straussler disease, OMIM: 137440; Gerstmann-Straussler-Scheinker syndrome, MONDO:0007656",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-06-08T11:02:32.227833Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: PRNP as Amber List (moderate evidence)",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-06-08T11:02:32.224037Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-06-08T11:02:32.185835Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: prnp has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-06-08T11:01:40.693417Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: PRNP were set to 30240140; 8250529; 34746379; 28195350; 16227536; 19228673",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-06-08T10:02:51.715857Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.5",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_23_promote_green tag was added to gene: PRNP.",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-06-08T09:30:21.086618Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.5",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: PRNP were set to 30240140; 8250529; 34746379; 28195350",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-06-06T16:28:41.145383Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: PRNP were changed from HSP; Gerstmann–Sträussler–Scheinker disease to Gerstmann-Straussler disease, OMIM: 137440",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-05-31T12:54:41.336266Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.3",
"user_name": "James Polke",
"item_type": "entity",
"text": "gene: PRNP was added\ngene: PRNP was added to Adult onset hereditary spastic paraplegia. Sources: NHS GMS\nMode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRNP were set to 30240140; 8250529; 34746379; 28195350\nPhenotypes for gene: PRNP were set to HSP; Gerstmann–Sträussler–Scheinker disease\nPenetrance for gene: PRNP were set to Complete\nMode of pathogenicity for gene: PRNP was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: PRNP was set to GREEN\ngene: PRNP was marked as current diagnostic\nAdded comment: HSP can be a rare presenting phenotype for some individuals with inherited prion disease. \nSources: NHS GMS",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-04-11T12:20:23.413311Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: SPG7 were set to ",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-04-11T12:17:15.090552Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_23_MOI tag was added to gene: SPG7.",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-04-11T12:16:57.201001Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: SPG7: Rating: ; Mode of pathogenicity: None; Publications: 9635427, 16534102, 17646629, 18200586, 20186691, 22571692; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-04-11T09:36:04.207409Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, 607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-03-22T15:55:12.647304Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.1",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T15:54:22.177676Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "3.0",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T14:03:55.466593Z",
"panel_name": "Adult onset hereditary spastic paraplegia",
"panel_id": 567,
"panel_version": "2.26",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "Panel name changed from Adult onset hereditary spastic paraplegia. to Adult onset hereditary spastic paraplegia",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T13:55:05.501899Z",
"panel_name": "Adult onset hereditary spastic paraplegia.",
"panel_id": 567,
"panel_version": "2.25",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "List of related panels changed from Adult onset hereditary spastic paraplegia; Hereditary spastic paraplegia - adult onset; R60 to Hereditary spastic paraplegia - adult onset; R60",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T12:12:38.275068Z",
"panel_name": "Adult onset hereditary spastic paraplegia.",
"panel_id": 567,
"panel_version": "2.24",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "List of related panels changed from R60; Adult onset hereditary spastic paraplegia; Hereditary spastic paraplegia - adult onset to Adult onset hereditary spastic paraplegia; Hereditary spastic paraplegia - adult onset; R60",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T12:08:48.539307Z",
"panel_name": "Adult onset hereditary spastic paraplegia.",
"panel_id": 567,
"panel_version": "2.23",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel name changed from Hereditary spastic paraplegia - adult onset to Adult onset hereditary spastic paraplegia.",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T12:08:11.079783Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.22",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "List of related panels changed from R60; Adult onset hereditary spastic paraplegia to R60; Adult onset hereditary spastic paraplegia; Hereditary spastic paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-15T10:31:46.799509Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.21",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: RAB3GAP2 as Amber List (moderate evidence)",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T10:31:46.796417Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.21",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene is rated AMBER as all the cases are of childhood-onset.",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T10:31:46.780420Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.21",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T10:30:02.265442Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_23_promote_green was removed from gene: RAB3GAP2.",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T10:29:49.996172Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T06:15:42.262675Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_23_promote_green tag was added to gene: RAB3GAP2.",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T06:14:56.888520Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome 2, OMIM:614225 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T06:14:42.630418Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.19",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: RAB3GAP2 were set to 24482476",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T06:14:22.508944Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: RAB3GAP2 as Amber List (moderate evidence)",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T06:14:22.506168Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) available for this gene to be considered for a green rating in the next major review.",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T06:14:22.489065Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T06:13:37.842340Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32740904; Phenotypes: Martsolf syndrome 1, OMIM:212720, Warburg micro syndrome 2, OMIM:614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-03-14T14:49:34.140800Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.17",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: SPAST were changed from Spastic paraplegia 4, autosomal dominant, 182601 to Spastic paraplegia 4, autosomal dominant, OMIM:182601; hereditary spastic paraplegia 4, MONDO:0008438",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2023-03-07T17:49:24.436294Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.16",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: ATL1 were set to 11685207; 15517445",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2023-02-27T16:03:19.651436Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: MAG were set to 26179919; 24482476",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2023-02-27T16:03:03.293444Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: MAG as Red List (low evidence)",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2023-02-27T16:03:03.289747Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoting from Amber to Red as onset is in early childhood",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2023-02-27T16:03:03.258719Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: mag has been classified as Red List (Low Evidence).",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2023-02-27T15:21:38.511862Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MAG were changed from Spastic paraplegia 75, autosomal recessive, 616680 to Spastic paraplegia 75, autosomal recessive, OMIM:616680",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2023-02-15T09:15:03.104857Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.12",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: SPAST were set to 16240363; 15248095",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2023-02-06T17:59:50.351750Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.11",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-02-06T17:59:37.169532Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: SPTAN1 were set to 18065176; 20493457; 22656320; 35150594; 36331550",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-02-06T17:59:06.587111Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.9",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Comment on classification: This gene should be rated Green as there are several unrelated cases (many more than three cases identified with different variants) from multiple ethnicities reported with spastic paraplegia and supported by functional studies.\r\n\r\nOMIM reports Developmental and epileptic encephalopathy 5 (OMIM #613477) as a phenotype for SPTAN1 variants. Spastic quadriplegia is one of the clinical manifestations that has been reported as part of this phenotype.\r\n\r\nTwo of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia, while it has also been reported in one year old male from PMID:22656320 and two patients from PMID:18065176. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, fifteen patients from seven families displaying p.Arg19Trp variant were reported with hereditary spastic paraplegia with age of onset ranging from congenital to adolescence, while three other patients displaying other variants (p.Arg1624Cys, p.Arg1098Cys & p.Gln2205Pro) displayed different extremes of spastic ataxia spectrum.\r\n\r\nIn PMID:36331550, authors carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify individuals with SPTAN1 variants. Statistically significant enrichment of rare probably damaging SPTAN1 variants were identified in families with hereditary ataxia (HA) or spastic paraplegia (HSP). Out of 31 individuals identified with SPTAN1 variants, five (three families) were presented with complex HA/HSP, two were presented with complex HSP and one with pure HSP. \nSources: Literature; to: Comment on classification: This gene should be rated Green as there are several unrelated cases (many more than three cases identified with different variants) reported with spastic paraplegia and supported by functional studies. Both autosomal dominant and autosomal recessive variants of this gene are implicated in spastic paraplegia and at least three cases are reported for both disorders.\r\n\r\nAutosomal dominant disorder:\r\n\r\nOMIM reports Developmental and epileptic encephalopathy 5 (OMIM #613477) as a phenotype for SPTAN1 variants. Spastic quadriplegia is one of the clinical manifestations that has been reported as part of this phenotype.\r\n\r\nTwo of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia, while it has also been reported in one year old male from PMID:22656320 and two patients from PMID:18065176. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, fifteen patients from seven families displaying p.Arg19Trp variant were reported with hereditary spastic paraplegia with age of onset ranging from congenital to adolescence, while three other patients displaying other variants (p.Arg1624Cys, p.Arg1098Cys & p.Gln2205Pro) displayed different extremes of spastic ataxia spectrum.\r\n\r\nIn PMID:36331550, authors carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify individuals with SPTAN1 variants. Statistically significant enrichment of rare probably damaging SPTAN1 variants were identified in families with hereditary ataxia (HA) or spastic paraplegia (HSP). Out of 31 individuals identified with SPTAN1 variants, five (three families) were presented with complex HA/HSP, two were presented with complex HSP and one with pure HSP. \r\n\r\nAutosomal recessive disorder:\r\n\r\nPMID:31515523 reported two cases of juvenile/ adult-onset spastic paraplegia caused by compound heterozygous variants (p.Ala858Ser/ p.Ala1428Gly & p.Ala858Ser/ Met2330Ile). PMID:34526651 reported a female patient with juvenile/ adult-onset spastic paraplegia and was identified with homozygous missense variant p.Ile1388Val.\r\nSources: Literature",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-02-06T17:46:22.995656Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.9",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: SPTAN1: Changed publications to: 18065176, 20493457, 22656320, 31515523, 34526651, 35150594, 36331550; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-02-06T15:24:21.744797Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.9",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_23_promote_green tag was added to gene: SPTAN1.",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-02-06T15:23:36.558851Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.9",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: SPTAN1 as Amber List (moderate evidence)",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-02-06T15:23:36.551609Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.9",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: sptan1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-02-06T15:23:12.497056Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.8",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: SPTAN1 was added\ngene: SPTAN1 was added to Hereditary spastic paraplegia - adult onset. Sources: Literature\nMode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPTAN1 were set to 18065176; 20493457; 22656320; 35150594; 36331550\nPhenotypes for gene: SPTAN1 were set to Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064\nReview for gene: SPTAN1 was set to GREEN\nAdded comment: Comment on classification: This gene should be rated Green as there are several unrelated cases (many more than three cases identified with different variants) from multiple ethnicities reported with spastic paraplegia and supported by functional studies.\r\n\r\nOMIM reports Developmental and epileptic encephalopathy 5 (OMIM #613477) as a phenotype for SPTAN1 variants. Spastic quadriplegia is one of the clinical manifestations that has been reported as part of this phenotype.\r\n\r\nTwo of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia, while it has also been reported in one year old male from PMID:22656320 and two patients from PMID:18065176. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, fifteen patients from seven families displaying p.Arg19Trp variant were reported with hereditary spastic paraplegia with age of onset ranging from congenital to adolescence, while three other patients displaying other variants (p.Arg1624Cys, p.Arg1098Cys & p.Gln2205Pro) displayed different extremes of spastic ataxia spectrum.\r\n\r\nIn PMID:36331550, authors carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify individuals with SPTAN1 variants. Statistically significant enrichment of rare probably damaging SPTAN1 variants were identified in families with hereditary ataxia (HA) or spastic paraplegia (HSP). Out of 31 individuals identified with SPTAN1 variants, five (three families) were presented with complex HA/HSP, two were presented with complex HSP and one with pure HSP. \nSources: Literature",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:17:09.102811Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.7",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Tag Q2_22_rating was removed from gene: HSPD1.\nTag Q2_22_expert_review was removed from gene: HSPD1.",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:16:49.053581Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.7",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Tag Q2_22_MOI was removed from gene: C19orf12.",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:14:27.220369Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.7",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:14:27.157537Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.7",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "commented on gene: C19orf12",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:03:45.559290Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.6",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Mode of inheritance for gene C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2023-01-17T15:23:47.863934Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.5",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, OMIM:615491 to Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-01-17T15:19:08.687539Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: UCHL1: Added comment: In addition to previous reports of Spastic paraplegia 79, autosomal recessive (OMIM:615491), PMID: 35986737 reports a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy in cases with heterozygous UCHL1 variants. The variants included 13 heterozygous loss-of-function variants (15 families) and a heterozygous in-frame insertion (3 families). The affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17), it was also noted in PMID: 35986737 that the condition onset in dominant cases was median 49 years (12-70 years) and in recessive was 7.5 years (2-10 years).; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-01-17T14:09:11.204471Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: UCHL1 were set to 23359680; 28007905; 29735986; 32656641",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2022-12-10T09:21:45.682906Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_22_promote_green tag was added to gene: COQ4.",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2022-12-10T09:21:06.395204Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: COQ4 as Amber List (moderate evidence)",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2022-12-10T09:21:06.387730Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: coq4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2022-12-10T09:20:22.967420Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: COQ4 was added\ngene: COQ4 was added to Hereditary spastic paraplegia - adult onset. Sources: Literature\nMode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ4 were set to 36047608\nPhenotypes for gene: COQ4 were set to Adult-onset ataxia-spasticity spectrum disease; Hereditary spastic paraparesis, MONDO:0019064; Cerebellar ataxia, MONDO:0000437\nReview for gene: COQ4 was set to GREEN\nAdded comment: Comment on classification of this gene: The rating for this gene should be added as GREEN, as this gene has been implicated in adult onset hereditary spastic paraplegia, as identified from biallelic variants from three unrelated individuals.\r\n\r\nSix patients from four families with bi-allelic variants were reported with adult-Onset ataxia-spasticity spectrum phenotype. Out of these, three patients (c.305G>A & c.473G>A, c.434G>A & c.437T>G, c.376G>A & c.473G>A) were identified with hereditary spastic paraparesis and their age of onset ranged from 15 to 24 (PMID:36047608).\r\n\r\nCOQ4 was not associated with hereditary spastic paraparesis in OMIM or Gene2Phenotype. However, functional studies performed in patient-derived fibroblasts, yeasts and zebrafish larvae confirms the role of COQ4 in brain development. The coq4 F0 CRISPR zebrafish line particularly showed motor defects and cell reduction in a specific area of the hindbrain, a region reminiscent of the human cerebellum (PMID:33704555). \nSources: Literature",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:32:53.286929Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.1",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version 2.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T14:32:13.221864Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "2.0",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-14T15:12:54.186675Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.104",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5C were changed from Intellectual disability; developmental delay; epilepsy; progressive spasticity; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; hypothyroidism to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, OMIM:300534",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2022-10-25T10:52:22.649444Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.103",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6, 615010 autosomal recessive; Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400 to Aicardi-Goutieres syndrome 6, OMIM:615010",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-06-08T22:43:56.385166Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.102",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from STR: ATXN10_ATTCT.",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2022-04-19T11:41:29.669102Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.102",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450 to Spastic ataxia 5, autosomal recessive, OMIM:614487",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-04-13T15:42:29.058680Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.101",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: HSPD1 as Amber List (moderate evidence)",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-04-13T15:42:29.055328Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.101",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: The evidence for this gene-disease association is borderline as only 2 families have been reported to date with HSPD1-related AD adult-onset SPG which may be associated with variable penetrance. However, this phenotype is likely best represented by the R60 panel which may justify its inclusion to minimise risk of missing diagnoses - this will be flagged for GMS discussion to determine the most appropriate classification given the current evidence.",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-04-13T15:42:29.037044Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.101",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: hspd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-04-13T15:34:38.553798Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.100",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: HSPD1 were set to 11898127",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-04-13T15:33:59.432405Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.99",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_22_rating tag was added to gene: HSPD1.\nTag Q2_22_expert_review tag was added to gene: HSPD1.",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-04-13T15:33:30.435266Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.99",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: HSPD1: Rating: ; Mode of pathogenicity: None; Publications: 10677329, 11898127, 17420924; Phenotypes: Spastic paraplegia 13, autosomal dominant, OMIM:605280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-04-13T15:01:22.812306Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.99",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: HSPD1 were changed from Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280 to Spastic paraplegia 13, autosomal dominant, OMIM:605280",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-04-13T15:00:34.113129Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.98",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Penetrance for gene HSPD1 was set from to None",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:20:27.356470Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.97",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: C19orf12: Rating: ; Mode of pathogenicity: None; Publications: 29295770, 31087512; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:06:05.323583Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.97",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_22_MOI tag was added to gene: C19orf12.",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:59:05.753483Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.97",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: C19orf12 were changed from Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 to ?Spastic paraplegia 43, autosomal recessive, OMIM:615043; Neurodegeneration with brain iron accumulation 4, OMIM: 614298",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:37:42.304831Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.96",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: C19orf12 were set to 23857908; 26539891",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:02:33.976219Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on STR: HTT_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T15:59:45.322523Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on STR: TBP_CAG",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T15:55:33.360169Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: AP4B1",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2022-03-15T15:55:23.639631Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: AP4S1",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2022-03-15T15:55:15.359097Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: AP4E1",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2022-03-15T15:55:06.904642Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: AP4M1",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2022-03-15T15:54:33.113916Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE tag was added to gene: AP4E1.",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2022-03-15T15:54:01.510904Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE tag was added to gene: AP4B1.",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2022-03-15T15:53:24.080216Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE tag was added to gene: AP4S1.",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2022-03-15T15:52:17.683128Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE tag was added to gene: AP4M1.",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2022-03-15T15:41:58.820684Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on STR: PPP2R2B_CAG",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T13:05:10.645471Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on STR: FXN_GAA",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2022-03-15T12:49:02.152017Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on STR: CACNA1A_CAG",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T12:26:18.190914Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on STR: ATXN7_CAG",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T12:17:15.176974Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on STR: ATXN3_CAG",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T11:47:17.087502Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on STR: ATXN2_CAG",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T11:44:44.586328Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on STR: ATXN10_ATTCT",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2022-03-15T11:42:03.229212Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on STR: ATXN1_CAG",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2022-03-14T13:24:35.790300Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_phenotype was removed from gene: WDR45B.",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:24:30.470429Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_expert_review was removed from gene: UCHL1.",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:24:24.505638Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_phenotype was removed from gene: TFG.",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:24:17.619352Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_phenotype was removed from gene: SPART.",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:24:09.113239Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_phenotype was removed from gene: SLC1A4.",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:23:59.696404Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_phenotype was removed from gene: SLC16A2.",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:23:54.594907Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_phenotype was removed from gene: SERAC1.",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:23:47.827552Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_phenotype was removed from gene: REEP2.",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:23:42.247121Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_phenotype was removed from gene: NT5C2.",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:23:35.654384Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_phenotype was removed from gene: NKX6-2.",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:23:28.935761Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_phenotype was removed from gene: L1CAM.",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:23:21.759063Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_phenotype was removed from gene: KIDINS220.",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:23:15.837326Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_expert_review was removed from gene: KDM5C.\nTag Q3_21_phenotype was removed from gene: KDM5C.",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:23:10.006650Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_phenotype was removed from gene: HACE1.",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:23:03.196930Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: SLC25A15.",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:22:42.248780Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: GJA1.",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:22:35.956832Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: GBE1.",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:22:28.961957Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: GALC.",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:22:22.702665Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: FBXO7.",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:22:08.285060Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_phenotype was removed from gene: FARS2.",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:22:00.341836Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_phenotype was removed from gene: ERLIN1.",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:21:51.757869Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_phenotype was removed from gene: ENTPD1.",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:21:44.626488Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_expert_review was removed from gene: CYP2U1.",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:21:36.203752Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: CPT1C.",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:21:18.205928Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_expert_review was removed from gene: C12orf65.\nTag Q3_21_phenotype was removed from gene: C12orf65.",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:21:09.625472Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_phenotype was removed from gene: ARG1.",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:21:00.620824Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_expert_review was removed from gene: ALS2.\nTag Q3_21_phenotype was removed from gene: ALS2.",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:20:50.912683Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_phenotype was removed from gene: AIMP1.",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:20:40.084526Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_phenotype was removed from gene: AFG3L2.\nTag Q2_21_MOI was removed from gene: AFG3L2.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:54.210332Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: WDR45B",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:54.197045Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: UCHL1",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:54.182358Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TFG",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:54.169909Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: SPART",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:54.155644Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: SLC25A15",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:54.130158Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: SLC1A4",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:54.043867Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: SLC16A2",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.964173Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: SERAC1",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.954362Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: REEP2",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.944349Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: NT5C2",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.933707Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: NKX6-2",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.920139Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: L1CAM",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.910172Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: KIDINS220",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.900390Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: KDM5C",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.889546Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: HACE1",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.878438Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: GJA1",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.867538Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: GBE1",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.855931Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: GALC",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.843100Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: FBXO7",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.829039Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: FARS2",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.808510Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: ERLIN1",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.791510Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: ENTPD1",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.778678Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: CYP2U1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.769191Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: CPT1C",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.755697Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: C12orf65",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.742061Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: ARG1",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.730110Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: ALS2",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.716556Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: AIMP1",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:53.702568Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: AFG3L2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:49.015899Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to WDR45B.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:48.910091Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to UCHL1.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:48.806516Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to TFG.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:48.700867Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to SPART.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:48.601641Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to SLC25A15.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:48.495124Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to SLC1A4.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:48.395037Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to SLC16A2.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:48.293420Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to SERAC1.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:48.184142Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to REEP2.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:48.076383Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to NT5C2.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:47.968591Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to NKX6-2.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:47.864415Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to L1CAM.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:47.759628Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to KIDINS220.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:47.652695Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to KDM5C.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:47.544456Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to HACE1.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:47.438690Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to GJA1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:47.338354Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to GBE1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:47.235899Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to GALC.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:47.136296Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to FBXO7.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:47.005120Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to FARS2.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:46.905855Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to ERLIN1.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:46.805910Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to ENTPD1.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:46.704192Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to CYP2U1.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:46.604610Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to CPT1C.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:46.502357Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to C12orf65.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:46.402295Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to ARG1.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:46.302374Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to ALS2.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:46.196793Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to AIMP1.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:19:46.091090Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to AFG3L2.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-03-10T16:42:56.606289Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.91",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Normal Number of Repeats for HTT_CAG was changed from 40 to 36.",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:54.713292Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.91",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.\nPathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:47.803658Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.91",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:46.037334Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.91",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.\nPathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:45.327227Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.91",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:44.235270Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.91",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.\nPathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:42.458103Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.91",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:40.660737Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.91",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.\nPathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2022-03-03T18:49:02.692822Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.90",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review was removed from gene: PCYT2.",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2022-03-03T18:48:17.733957Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.90",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: PCYT2",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2022-03-03T18:48:08.639981Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.89",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to PCYT2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2021-12-14T16:17:53.599525Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.88",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_phenotype tag was added to gene: SERAC1.",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2021-11-29T14:24:35.162454Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.88",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia; Warburg micro syndrome 2, 614225 to Warburg micro syndrome 2, OMIM:614225",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2021-11-24T12:10:38.979432Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.87",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: IBA57 were changed from ?Spastic paraplegia 74, autosomal recessive, 616451 to ?Spastic paraplegia 74, autosomal recessive, OMIM:616451",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:36:48.621227Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.86",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: CPT1C as Amber List (moderate evidence)",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:36:48.618646Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.86",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Overall one family with confirmed adult-onset and one with childhood-onset have been reported, as well as two further unrelated cases but unfortunately without indication of age of onset. Although onset is variable, the gene-disease relationship is supported by a strong animal model, and therefore it is worth including CPT1C on both HSP panels as Green.",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:36:48.598362Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.86",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: cpt1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:36:40.823874Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.85",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: CPT1C.",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:45:42.326155Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.85",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CPT1C were changed from ?Spastic paraplegia 73, autosomal dominant, 616282 to Spastic paraplegia 73, autosomal dominant, OMIM:616282",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2021-11-18T16:22:23.330296Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.84",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:05:41.864320Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.83",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: FXN_GAA were changed from Friedreich ataxia 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2021-11-11T14:58:56.434292Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.82",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag nucleotide-repeat-expansion tag was added to gene: FXN.",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2021-11-10T16:43:05.539372Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.82",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: PPP2R2B_CAG were changed from Spinocerebellar ataxia 12 604326 to Spinocerebellar ataxia 12, OMIM:604326",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2021-11-10T16:38:15.453315Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.81",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: TBP_CAG were changed from Spinocerebellar ataxia 17 607136 to Spinocerebellar ataxia 17, OMIM:607136",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2021-11-10T14:42:36.246265Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.80",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: HTT_CAG were changed from Huntington disease 143100 to Huntington disease, OMIM:143100",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2021-11-09T16:48:03.468146Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.79",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1, OMIM:164400",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2021-11-08T13:16:27.551250Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.78",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6, OMIM:183086",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2021-11-05T16:53:22.528146Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.77",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7, OMIM:164500",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2021-11-05T16:34:26.980952Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.76",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease, OMIM:109150",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2021-11-05T16:08:34.174623Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.75",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2021-11-05T15:24:59.730948Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.74",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10 603516 to Spinocerebellar ataxia 10, OMIM:603516",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2021-11-05T15:24:53.147258Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.73",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist tag was added to STR: ATXN10_ATTCT.",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2021-10-15T09:21:58.745932Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.73",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, OMIM:270685 to Silver spastic paraplegia syndrome, OMIM:270685; Neuropathy, distal hereditary motor, type VC, OMIM:619112",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2021-09-01T13:12:40.493466Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_phenotype tag was added to gene: L1CAM.",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2021-09-01T13:12:25.262748Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: L1CAM",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2021-09-01T11:10:37.651691Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Progressive neurological symptoms are occasionally seen in ODDD due to degeneration of the white matter tracts and can include spastic paraplegia. Gait disturbances due to spasticity can be a presenting feature for which patients initially seek medical attention. Typically signs of spasticity arise in adulthood (PMID: 18660473; 22214631; 29927410; 31023660; 33190326; 33612672); however, several adolescent onset cases (PMID: 18660473; 31023660) have also been described and I could only find a single childhood-onset case with spasticity arising at age 8 (PMID: 29927410).\r\n\r\nOverall there is enough evidence to rate as Green on both the adult and childhood-onset HSP panels to ensure identification of all cases. >10 unrelated families reported in literature.; to: Progressive neurological symptoms are occasionally seen in ODDD due to degeneration of the white matter tracts and can include spastic paraplegia. Gait disturbances due to spasticity can be a presenting feature for which patients initially seek medical attention. Typically signs of spasticity arise in adulthood (PMID: 18660473; 22214631; 29927410; 31023660; 33190326; 33612672); however, several adolescent onset cases (PMID: 18660473; 31023660) have also been described and I could only find a single childhood-onset case with spasticity arising at age 8 (PMID: 29927410).\r\n\r\nOverall there is enough evidence to rate as Green on the adult-onset HSP panel (>10 unrelated families reported in literature). I will seek further clinical opinion with regard to inclusion on the childhood-onset panel given the implications of carrier status being found incidentally for this primarily adult-onset condition. ",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-09-01T11:02:24.041597Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: GJA1 as Amber List (moderate evidence)",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-09-01T11:02:24.034179Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: gja1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-09-01T10:50:55.034454Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.71",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: GJA1.",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-09-01T10:50:45.313324Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.71",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJA1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-09-01T10:50:35.520836Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.70",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GJA1 were changed from Hereditary spastic paraplegia; Oculodentodigital dysplasia, MIM#164200 to Oculodentodigital dysplasia, OMIM:164200; Spastic paraplegia",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-09-01T10:50:18.091779Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: GJA1 were set to 31023660",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-09-01T10:50:01.758399Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18660473, 22214631, 29927410, 31023660, 33190326, 33612672; Phenotypes: Oculodentodigital dysplasia, OMIM:164200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-08-31T11:06:28.645824Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: SLC25A15 as Amber List (moderate evidence)",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2021-08-31T11:06:28.640257Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association. Spasticity can be a predominant presenting feature, and inclusion on the adult onset panel would ensure later onset, as well as edge cases are identified. SLC25A15 should be promoted to Green at the next GMS panel update.",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2021-08-31T11:06:28.614230Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: slc25a15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2021-08-31T11:03:21.912858Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.67",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: SLC25A15 were set to 16376511; 22465082; 28592010",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2021-08-31T11:03:00.158195Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.66",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: SLC25A15.",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2021-08-31T11:02:46.298996Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.66",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: SLC25A15: Rating: GREEN; Mode of pathogenicity: None; Publications: 11355015, 16376511, 18978333, 22465082, 33314525; Phenotypes: Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2021-08-31T10:23:49.872611Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.66",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A15 were changed from Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970 to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2021-08-26T11:53:24.328797Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.65",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM. There is enough evidence to support a gene-disease association. GBE1 should be rated Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM. There is enough evidence to support a gene-disease association. Transgenic homozygous mice also display late-onset spastic paraplegia. GBE1 should be rated Green at the next review.",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2021-08-26T11:52:39.464937Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.65",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: GBE1 were set to 23034915",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2021-08-26T11:49:04.820302Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.64",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: GBE1.",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2021-08-26T11:48:55.271901Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.64",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: GBE1 as Amber List (moderate evidence)",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2021-08-26T11:48:55.268311Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.64",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM. There is enough evidence to support a gene-disease association. GBE1 should be rated Green at the next review.",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2021-08-26T11:48:55.236522Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.64",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: gbe1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2021-08-26T11:00:10.173014Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.63",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GBE1 were changed from Polyglucosan body disease, adult form MIM#263570 to Polyglucosan body disease, adult form, OMIM:263570",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2021-08-26T10:09:33.646537Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: GALC.",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-08-26T10:09:21.855109Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: GALC as Amber List (moderate evidence)",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-08-26T10:09:21.846567Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: galc has been classified as Amber List (Moderate Evidence).",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-08-26T10:09:16.836630Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.61",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: GALC as Green List (high evidence)",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-08-26T10:09:16.833446Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.61",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-08-26T10:09:16.812466Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.61",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: galc has been classified as Green List (High Evidence).",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-08-26T10:08:00.696326Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.60",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: 9272171, 11971051, 21070211, 22959700, 26915362, 32064984; Phenotypes: Krabbe disease, OMIM:245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-08-26T09:08:55.461931Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.60",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GALC were changed from Krabbe disease MIM#245200 to Krabbe disease, OMIM:245200",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-08-25T13:37:05.659586Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.59",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Hereditary ataxia v1.241",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2021-08-25T13:37:05.628132Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.59",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: CHP1 was added\ngene: CHP1 was added to Hereditary spastic paraplegia - adult onset. Sources: Expert Review Amber,Literature\nwatchlist tags were added to gene: CHP1.\nMode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHP1 were set to 23904602; 29379881; 32787936\nPhenotypes for gene: CHP1 were set to Spastic ataxia 9, autosomal recessive, OMIM:618438",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:03:48.068181Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_phenotype tag was added to gene: SLC16A2.",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:03:21.424813Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: SLC16A2 were set to 14661163; 19194886",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:02:51.625039Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: SLC16A2: Rating: ; Mode of pathogenicity: None; Publications: 20713192, 22805248, 23419639, 24170966, 25755011, 25900139, 28742507, 31410843; Phenotypes: Allan-Herndon-Dudley syndrome, OMIM:300523; Mode of inheritance: None",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2021-08-24T12:27:38.737265Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome, 300523, XL to Allan-Herndon-Dudley syndrome, OMIM:300523",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2021-08-24T12:19:29.252048Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: L1CAM were changed from Hereditary spastic paraplegia, 308840; MASA syndrome, 303350; X-linked hydrocephalus, 307000 to CRASH syndrome, OMIM:303350; MASA syndrome, OMIM:303350; Hydrocephalus due to aqueductal stenosis, OMIM:307000; Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000; Hydrocephalus with Hirschsprung disease, OMIM:307000",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2021-08-23T15:07:15.552363Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.55",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf65 were changed from Combined oxidative phosphorylation deficiency 7, OMIM:613559; Spastic paraplegia 55, autosomal recessive, OMIM:615035 to Spastic paraplegia 55, autosomal recessive, OMIM:615035",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-08-23T15:07:09.166664Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.54",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf65 were changed from optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy; Combined oxidative phosphorylation deficiency 7, 613559; Spastic paraplegia 55, autosomal recessive, 615035 to Combined oxidative phosphorylation deficiency 7, OMIM:613559; Spastic paraplegia 55, autosomal recessive, OMIM:615035",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-08-23T15:04:19.404571Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.53",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: C12orf65 were set to 23188110; 24424123",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-08-23T15:04:11.387010Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.52",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_expert_review tag was added to gene: C12orf65.\nTag Q3_21_phenotype tag was added to gene: C12orf65.",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-08-23T15:03:54.344623Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.52",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383, 24284555, 24424123, 25995486, 26380172; Phenotypes: Spastic paraplegia 55, autosomal recessive, OMIM:615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-08-23T11:57:48.769869Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.52",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_phenotype tag was added to gene: WDR45B.",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2021-08-23T11:57:23.802313Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.52",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: WDR45B: Rating: ; Mode of pathogenicity: None; Publications: 28503735; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2021-08-23T11:42:45.529144Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.52",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: WDR45B were changed from Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2021-08-23T09:43:23.457582Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.51",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TFG were changed from Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD; ?Spastic paraplegia 57, autosomal recessive 615658,AR to Spastic paraplegia 57, autosomal recessive, OMIM:615658",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2021-08-23T09:42:29.214594Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.50",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: TFG were set to Beetz (2013); 23479643; 27601211; 28124177; 27492651",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2021-08-23T09:42:09.386348Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.49",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_phenotype tag was added to gene: TFG.",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2021-08-23T09:41:57.671793Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.49",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: TFG: Rating: ; Mode of pathogenicity: None; Publications: 23479643, 27492651, 27601211, 28124177, 29971521, 30467354, 33767317; Phenotypes: Spastic paraplegia 57, autosomal recessive, OMIM:615658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2021-08-20T16:04:50.097820Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.49",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: SPART were set to 12134148; 18413476; 26003402; 20301556",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2021-08-20T16:04:33.953013Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.48",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_phenotype tag was added to gene: SPART.",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2021-08-20T16:04:27.109565Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.48",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: SPART: Rating: ; Mode of pathogenicity: None; Publications: 12134148, 18413476, 20301556, 20437587, 27112432, 28679690; Phenotypes: Troyer syndrome, OMIM:275900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2021-08-20T15:46:08.973590Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.48",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SPART were changed from Troyer syndrome; Spastic paraplegia 20, autosomal recessive to Troyer syndrome, OMIM:275900; Spastic paraplegia 20",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2021-08-20T14:11:58.081804Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Review of literature did not reveal any adult onset cases - disorder presents at birth and severe spasticity becomes apparent, typically with disease progression during the infantile or childhood period.\r\n\r\nThe 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.; to: Review of literature did not reveal any adult onset cases - disorder presents at birth and severe spasticity becomes apparent, typically with disease progression, during the infantile or childhood period.\r\n\r\nThe 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2021-08-20T14:11:27.795981Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: SERAC1: Rating: ; Mode of pathogenicity: None; Publications: 16527507, 22683713, 23918762, 27186703, 28778788, 29205472; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:53:54.652398Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SERAC1 were changed from MEGDEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739; MEGDHEL syndrome to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:26:40.463150Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.46",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: REEP2 were set to 24388663; 28491902; 24482476",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:26:31.438722Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_phenotype tag was added to gene: REEP2.",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:26:23.105486Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: REEP2: Rating: ; Mode of pathogenicity: None; Publications: 24388663, 24482476, 28491902, 33526816; Phenotypes: Spastic paraplegia 72, autosomal recessive, OMIM:615625, Spastic paraplegia 72, autosomal dominant, OMIM:615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:30:05.030829Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: NT5C2: Changed publications to: 19415352, 24482476, 28327087, 28884889, 29123918, 32153630",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:16:55.656534Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_phenotype tag was added to gene: NT5C2.",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:16:26.366388Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: NT5C2 were set to 19415352; 24482476; 2832708; 28884889; 29123918; 32153630",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:15:36.039548Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.44",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: NT5C2 were set to 28327087; 28884889; 24482476; 29123918",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:15:22.147741Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: NT5C2: Rating: ; Mode of pathogenicity: None; Publications: 19415352, 24482476, 2832708, 28884889, 29123918, 32153630; Phenotypes: Spastic paraplegia 45, autosomal recessive, OMIM:613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2021-08-20T09:04:43.041978Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive, 613162; Spastic paraplegia 45, autosomal recessive, 613162, AR to Spastic paraplegia 45, autosomal recessive, 613162",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2021-08-19T15:52:09.449195Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_phenotype tag was added to gene: NKX6-2.",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2021-08-19T15:51:58.765743Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: NKX6-2: Rating: ; Mode of pathogenicity: None; Publications: 28969374, 29388673, 28575651, 31509304, 32004679, 32246862; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:53:26.276072Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: KIF1C were set to 24482476; 24319291; 17273843; 24808017",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:52:59.473031Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.41",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24319291, 24482476, 24808017, 29544888, 31413903; Phenotypes: Spastic ataxia 2, autosomal recessive, OMIM:611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2021-08-19T13:16:42.906307Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.41",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_phenotype tag was added to gene: KIDINS220.",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-08-19T13:14:37.516489Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.41",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: KIDINS220 were set to 27005418; 29667355",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-08-19T13:14:05.638690Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.40",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: KIDINS220: Rating: ; Mode of pathogenicity: None; Publications: 27005418, 29667355, 31630374; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-08-19T11:34:56.250233Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.40",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: KDM5C were set to 10982473; 26919706; 15586325; 18697827",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-08-19T11:34:37.881238Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.39",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_expert_review tag was added to gene: KDM5C.\nTag Q3_21_phenotype tag was added to gene: KDM5C.",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-08-19T11:34:24.724578Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.39",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: None; Publications: 10982473, 15586325, 18697827, 19826449, 26919706, 32279304; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, OMIM:300534; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-08-17T16:33:45.296369Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.39",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_phenotype tag was added to gene: HACE1.",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-08-17T16:33:35.567722Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.39",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: HACE1 were set to 26424145; 26437029",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-08-17T16:33:21.990873Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.38",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: HACE1: Rating: ; Mode of pathogenicity: None; Publications: 26424145, 26437029, 29423242, 31321300, 33813722; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, OMIM:616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-08-17T15:42:39.018378Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.38",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: FBXO7 as Amber List (moderate evidence)",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2021-08-17T15:42:39.015071Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.38",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update (tagged)",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2021-08-17T15:42:38.994032Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.38",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: fbxo7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2021-08-17T15:42:13.927582Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.37",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO7 were changed from Parkinson disease 15, autosomal recessive MIM#260300 to Parkinson disease 15, autosomal recessive, OMIM:260300",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2021-08-17T15:42:05.880260Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.36",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: FBXO7 were set to 18513678; 19038853",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2021-08-17T15:41:57.460625Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: FBXO7.",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2021-08-17T15:41:47.211523Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19038853, 18513678, 26882974, 34144229; Phenotypes: Parkinson disease 15, autosomal recessive, OMIM:260300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2021-08-17T12:48:13.905980Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_phenotype tag was added to gene: FARS2.",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2021-08-17T12:48:05.055527Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: FARS2: Rating: ; Mode of pathogenicity: None; Publications: 30250868, 26553276, 29126765; Phenotypes: Spastic paraplegia 77, autosomal recessive, OMIM:617046; Mode of inheritance: None",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2021-08-17T11:07:04.706262Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_phenotype tag was added to gene: ERLIN1.",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2021-08-17T11:06:56.065963Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: ERLIN1",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2021-08-16T16:20:56.016260Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia 64, 615683 to Spastic paraplegia 64, autosomal recessive, OMIM:615683",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2021-08-16T15:55:49.681563Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.34",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ENTPD1 were set to Novarino et al. (2014); 24482476; 29691679",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2021-08-16T15:55:35.164763Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_phenotype tag was added to gene: ENTPD1.",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2021-08-16T15:55:21.754564Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Review of literature revealed 4 unrelated families with SPG64 - all of which presented in childhood.\r\n\r\nThe 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.; to: Review of literature revealed 4 unrelated families with SPG64 - all of which presented during childhood.\r\n\r\nThe 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2021-08-16T15:55:05.361149Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: ENTPD1: Rating: ; Mode of pathogenicity: None; Publications: 24482476, 29691679, 30652007; Phenotypes: Spastic paraplegia 64, autosomal recessive, OMIM:615683; Mode of inheritance: None",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2021-08-16T15:23:55.185277Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_phenotype tag was added to gene: ARG1.",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-08-16T15:23:35.603225Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: ARG1",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-08-16T14:20:06.751986Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ALS2 were changed from Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Primary lateral sclerosis, juvenile, OMIM:606353; Spastic paralysis, infantile onset ascending, OMIM:607225 to Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Primary lateral sclerosis, juvenile, OMIM:606353",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2021-08-16T14:19:42.848584Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_expert_review tag was added to gene: ALS2.\nTag Q3_21_phenotype tag was added to gene: ALS2.",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2021-08-16T14:19:30.569680Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: ALS2",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2021-08-16T11:12:03.219617Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ALS2 were changed from Spastic paralysis, infantile onset ascending,autosomal recessive, 607225; Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100 to Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Primary lateral sclerosis, juvenile, OMIM:606353; Spastic paralysis, infantile onset ascending, OMIM:607225",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:53:30.767828Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.31",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_phenotype tag was added to gene: AIMP1.",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:50:50.358213Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.31",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: AIMP1 as Green List (high evidence)",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:50:50.352352Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.31",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Review of literature did not reveal any adult onset cases - infantile and childhood onset only.\r\n\r\nThe 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:50:50.324240Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.31",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: aimp1 has been classified as Green List (High Evidence).",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-08-16T09:58:04.985397Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.30",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, OMIM:260600 to Leukodystrophy, hypomyelinating, 3, OMIM:260600",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-08-16T09:56:58.914664Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.29",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600 to Leukodystrophy, hypomyelinating, 3, OMIM:260600",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-08-05T15:09:28.364395Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.28",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "List of related panels changed from R60 to R60; Adult onset hereditary spastic paraplegia\nPanel version 1.27 has been signed off on 2021-08-05",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-04T14:41:25.477316Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.27",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: KIF1A were set to 21487076; 22258533; 28362824",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2021-08-04T14:16:32.920260Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.26",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213, AR; Mental retardation, autosomal dominant 9, 614255, AD to Spastic paraplegia 30, autosomal dominant, OMIM:610357; Spastic paraplegia 30, autosomal recessive, OMIM:610357; NESCAV syndrome, OMIM:614255",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2021-08-02T07:37:45.556772Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: WASHC5 were changed from Spastic paraplegia 8, autosomal dominant, 603563 to Spastic paraplegia 8, autosomal dominant, OMIM:603563",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2021-07-28T10:42:29.494973Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, 270685 to Silver spastic paraplegia syndrome, OMIM:270685",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2021-05-28T08:15:31.775589Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.23",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: SLC1A4 as Green List (high evidence)",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2021-05-28T08:15:31.772294Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.23",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Leaving the rating as green, but with a recommendation for review of this gene at the next GMS review as all cases have onset in childhood and this is an adult onset panel.",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2021-05-28T08:15:31.754253Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.23",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: slc1a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2021-05-28T08:14:06.875161Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.22",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, OMIM:616657",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2021-05-28T08:13:41.228771Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.21",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_expert_review was removed from gene: SLC1A4.\nTag Q2_21_phenotype tag was added to gene: SLC1A4.",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2021-05-26T16:16:21.949023Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.21",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_expert_review tag was added to gene: SLC1A4.",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2021-05-26T16:13:30.173653Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.21",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: SLC1A4",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2021-05-18T16:53:58.034442Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.21",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive; Spinocerebellar ataxia 28, autosomal dominant, 610246 to Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2021-05-18T16:06:05.027871Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: AFG3L2",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2021-05-18T15:57:51.318659Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_21_MOI tag was added to gene: AFG3L2.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2021-05-18T15:44:01.163919Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_21_phenotype tag was added to gene: AFG3L2.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2021-05-11T14:41:16.448259Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: FXN were changed from Friedreich ataxia, 229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2021-05-11T10:42:43.247380Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, 615491, AR to Spastic paraplegia 79, autosomal recessive, OMIM:615491",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2021-05-11T10:42:35.035110Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: UCHL1 were set to 29735986; 28007905; 23359680",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2021-05-11T10:42:24.938776Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_expert_review tag was added to gene: UCHL1.",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2021-05-11T10:42:04.267460Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23359680, 28007905, 29735986, 32656641; Phenotypes: Spastic paraplegia 79, autosomal recessive, OMIM:615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2021-04-27T14:25:04.843124Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.17",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: The Q2_21_expert_review tag has been added to this gene as there is a conflict of opinion of the rating of CYP2U1 on the this - Hereditary spastic paraplegia - adult onset, as variants in CYP2U1 are usually associated with Spastic paraplegia 56, autosomal recessive OMIM:615030 in childhood. The green rating may be justified to ensure that edge cases may be identified.\r\nGMS opinion is sort on this issue.; to: The Q2_21_expert_review tag has been added to this gene as there is a conflict of opinion of the rating of CYP2U1 on the Hereditary spastic paraplegia - adult onset panel, as variants in CYP2U1 are usually associated with Spastic paraplegia 56, autosomal recessive OMIM:615030 in childhood. The green rating may be justified to ensure that edge cases may be identified.\r\nGMS opinion is sort on this issue.",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-04-27T14:22:22.122570Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.17",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-04-27T14:18:52.590403Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.17",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_21_expert_review tag was added to gene: CYP2U1.",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-04-14T11:24:47.165008Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.17",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: CYP2U1 were changed from Spastic paraplegia 56, autosomal recessive, 615030 to Spastic paraplegia 56, autosomal recessive OMIM:615030; hereditary spastic paraplegia 56 MONDO:0014015",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-03-01T10:03:34.397752Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to STR: HTT_CAG.",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2021-02-24T14:49:08.702039Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.16",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: C12orf65.",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-02-24T14:48:55.680684Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.16",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "commented on gene: C12orf65",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-01-28T10:36:06.583047Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: AP4S1.",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-01-28T10:35:54.925941Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: AP4S1",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-01-27T14:45:56.589368Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: AP4M1.",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-01-27T14:45:48.571012Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: AP4M1",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-01-05T17:44:55.459432Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: AP4E1.",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-01-05T17:43:37.768477Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: AP4E1 were set to 21620353; 23472171",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-01-05T17:43:13.319763Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: AP4E1",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-01-05T17:42:00.546242Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Review of literature did not reveal any adult onset published cases. \r\n\r\nTagged 'for-review' to highlight that this is a childhood onset condition and therefore AP4B1 should be downgraded to Red on this panel at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.1.12' panel.; to: Review of literature did not reveal any adult onset published cases. \r\n\r\nTagged 'for-review' to highlight that this is a childhood onset condition and therefore AP4B1 should be downgraded to Red on this panel at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-01-05T15:47:07.819496Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AP4E1 were changed from Spastic paraplegia 51, autosomal recessive, 613744 to Spastic paraplegia 51, autosomal recessive, OMIM:613744; Hereditary spastic paraplegia 51, MONDO:0013401",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-01-05T15:33:19.502378Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive, 614066 to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-01-05T15:33:02.884582Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: AP4B1.",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-01-05T15:32:54.263863Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: AP4B1",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-10-19T16:28:53.664140Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: The rating of this gene should be reviewed at the next GMS panel update. Based on the review by Rebecca Foulger, there is sufficient evidence to rate this gene Green.; to: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update.",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-10-15T17:25:59.741537Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.13",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off\nPanel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-10-08T09:33:41.561306Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to STR: ATXN10_ATTCT.",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2020-10-06T11:42:01.824394Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.12",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-10-06T10:39:16.039024Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified STR: HTT_CAG as No list",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2020-10-06T10:39:16.009151Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This STR has been removed at the request of GHLs for the GMS Neurology Specialist Test Group as it is available as a core test for R68 Huntington Disease. Inclusion on panels for other neurological CIs raises concerns regarding counselling, and so it has been agreed that HTT_CAG will be excluded from this panel.",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2020-10-06T10:39:15.933764Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Str: htt_cag has been removed from the panel.",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2020-10-06T10:38:49.826231Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified STR: ATXN10_ATTCT as Amber List (moderate evidence)",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2020-10-06T10:38:49.821212Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This STR has been temporarily downgraded from Green to Amber, and will be repromoted when this clinical indication moves to WGS.",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2020-10-06T10:38:49.783369Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Str: atxn10_attct has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2020-10-05T08:50:45.230747Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: The rating of this gene should be reviewed at the next GMS panel update.\r\nBased on the review by Rebecca Foulger, there is sufficient evidence to rate this gene Green.; to: Comment on list classification: The rating of this gene should be reviewed at the next GMS panel update. Based on the review by Rebecca Foulger, there is sufficient evidence to rate this gene Green.",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-10-05T08:50:29.515991Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: PCYT2 as Amber List (moderate evidence)",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-10-05T08:50:29.502620Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: The rating of this gene should be reviewed at the next GMS panel update.\r\nBased on the review by Rebecca Foulger, there is sufficient evidence to rate this gene Green.",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-10-05T08:50:29.431686Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: pcyt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:42:06.281444Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR45B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:28:38.923505Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UCHL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:27:42.350078Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TFG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:26:23.144633Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPART: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:20:21.240691Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A15 was added\ngene: SLC25A15 was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list\nMode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A15 were set to 16376511; 22465082; 28592010\nPhenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970\nReview for gene: SLC25A15 was set to GREEN\nAdded comment: At least four unrelated cases reported with an adult onset spastic paraparesis as a feature of the condition. \nSources: Expert list",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:18:34.972873Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC1A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:18:03.028442Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC16A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:17:15.799585Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SERAC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:16:21.731899Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: REEP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:15:16.383627Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NT5C2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:14:09.605461Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:09:27.116660Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:08:11.064793Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF1C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:02:17.654509Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIDINS220: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:01:28.923024Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM5C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2020-09-22T04:02:03.622586Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HACE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2020-09-20T08:35:30.367313Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJA1 was added\ngene: GJA1 was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list\nMode of inheritance for gene: GJA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GJA1 were set to 31023660\nPhenotypes for gene: GJA1 were set to Hereditary spastic paraplegia; Oculodentodigital dysplasia, MIM#164200\nReview for gene: GJA1 was set to GREEN\ngene: GJA1 was marked as current diagnostic\nAdded comment: 8 individuals from 5 families with oculodentodigital dysplasia presenting in adulthood with onset of spastic paraplegia and white matter changes on imaging. \nSources: Expert list",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2020-09-20T08:28:26.527701Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GBE1 was added\ngene: GBE1 was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list\nMode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GBE1 were set to 23034915\nPhenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form MIM#263570\nReview for gene: GBE1 was set to GREEN\ngene: GBE1 was marked as current diagnostic\nAdded comment: Spastic paraplegia is a reported as a prominent feature of the condition in 45/50 cases diagnosed with adult polyglucosan body disease. \nSources: Expert list",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2020-09-20T08:26:46.020496Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALC was added\ngene: GALC was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list\nMode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALC were set to 9272171; 11971051; 22959700; 26396125; 26915362; 28547031; 31185936; 32064984\nPhenotypes for gene: GALC were set to Krabbe disease MIM#245200\nReview for gene: GALC was set to GREEN\ngene: GALC was marked as current diagnostic\nAdded comment: Adult onset spastic paraplegia is reported as a feature of the condition in greater than 3 cases. \nSources: Expert list",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2020-09-20T08:24:42.725710Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBXO7 was added\ngene: FBXO7 was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list\nMode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FBXO7 were set to 18513678; 19038853\nPhenotypes for gene: FBXO7 were set to Parkinson disease 15, autosomal recessive MIM#260300\nReview for gene: FBXO7 was set to GREEN\ngene: FBXO7 was marked as current diagnostic\nAdded comment: Lower limb spasticity reported in at least three families. \nSources: Expert list",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2020-09-20T08:18:39.800372Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FARS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2020-09-20T08:17:53.866476Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERLIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2020-09-20T08:17:31.781007Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ENTPD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2020-09-20T08:16:02.742078Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYP2U1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2020-09-20T08:13:28.485380Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2020-09-20T08:09:57.678644Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 23973755; Phenotypes: Spastic paraplegia 73, autosomal dominant, 616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2020-09-20T07:58:52.544526Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C12orf65: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2020-09-20T07:57:54.357291Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2020-09-20T07:57:29.239950Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4S1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2020-09-20T07:57:11.878337Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2020-09-20T07:56:47.048269Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4E1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-09-20T07:56:19.877362Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-09-20T07:55:46.579782Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2020-09-20T07:49:26.438763Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AIMP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2020-09-20T07:48:31.445201Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive 614487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-05-11T15:00:23.331473Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: PCYT2 as Green List (high evidence)",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-05-11T15:00:23.327856Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Added to panel as Green for now based on sufficient cases with HSP phenotype in PMID:31637422. Added 'for-review' tag as suggested by Helen Brittain, Genomics England Clinical Team, as this gene requires additional review by GLH as to appropriateness for adult panel.",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-05-11T15:00:23.300082Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: pcyt2 has been classified as Green List (High Evidence).",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-05-11T14:58:42.552167Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.6",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: PCYT2.",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-05-11T14:58:12.350890Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.6",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PCYT2 was added\ngene: PCYT2 was added to Hereditary spastic paraplegia - adult onset. Sources: Literature\nMode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCYT2 were set to 31637422\nPhenotypes for gene: PCYT2 were set to Spastic paraplegia 82, autosomal recessive, 618770\nAdded comment: PMID:31637422. In 5 patients from 4 unrelated families with autosomal recessive spastic paraplegia-82 (MIM:618770), Vaz et al. (2019) identified homozygous or compound heterozygous mutations in the PCYT2 gene. The variants segregated with the disorder in all families. Functional studies showed reduced (not absent) PYCT2 activity. \nSources: Literature",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-03-02T11:21:26.106521Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.4",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-12T12:40:52.278670Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.2",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "removed gene:RNASEH2B from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-12T11:54:36.444756Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.1",
"user_name": "Zerin Hyder",
"item_type": "entity",
"text": "gene: RNASEH2B was added\ngene: RNASEH2B was added to Hereditary spastic paraplegia - adult onset. Sources: Other\nMode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNASEH2B were set to PMID:30223285, PMID:25243380, PMID:29691679 and PMID:28762473\nPhenotypes for gene: RNASEH2B were set to hereditary spastic paraparesis\nMode of pathogenicity for gene: RNASEH2B was set to Other\nReview for gene: RNASEH2B was set to GREEN\nAdded comment: Above publications report association of pure, childhood-onset spastic paraparesis in association with missense recessive variants in RNASEH2B. \nSources: Other",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2019-11-05T14:52:21.102954Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Changed MOI due to upload of review MOI \"X-LINKED recessive: hemizygous mutation in males, biallelic mutations in females\" in inclusion of 'recessive' would result in an error with tiering, so has been corrected to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females'",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-11-05T14:52:21.082341Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: L1CAM was changed from X-LINKED recessive: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-10-18T14:52:18.262321Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.0",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-10-18T14:51:11.237611Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.158",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCT5 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCT5",
"entity_type": "gene"
},
{
"created": "2019-10-18T14:31:53.848805Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.157",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-30T12:38:14.470632Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.156",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from to R60",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-06T14:30:01.626129Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.155",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: MARS.",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2019-09-06T14:29:53.197051Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.155",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MARS: Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2019-09-06T11:43:04.493365Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.155",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: DARS.",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-09-06T11:38:32.166417Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.155",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DARS: Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-07-03T13:03:38.818288Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.155",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ARL6IP1 were changed from 24482476; 28471035 to Spastic paraplegia 61, autosomal recessive, 615685",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-05-30T16:39:15.459813Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.153",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to UBAP1.",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2019-05-30T16:39:15.318433Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.153",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to ARL6IP1.",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-05-30T16:26:15.178538Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.152",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ARL6IP1: Follow up review and rating after GMS Neurology Specialist Test Group Webex on 17th May 2019. Review submitted by James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group, gene rated as AMBER",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-05-30T16:24:46.206804Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.152",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: UBAP1: Follow up review and rating after GMS Neurology Specialist Test Group Webex on 17th May 2019. Review submitted by James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group, gene rated as GREEN.",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2019-05-30T16:20:29.003674Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.152",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: ARL6IP1 as Amber List (moderate evidence)",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-05-30T16:20:28.999723Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.152",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Gene discussed in view of onset. Gene downgraded from Green to Amber, rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-05-30T16:20:28.978749Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.152",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: arl6ip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-05-22T12:16:25.634317Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.151",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: TBP_CAG: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T12:16:03.714330Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.151",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of STR: PPP2R2B_CAG: Added comment: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.; Changed rating: GREEN",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T12:15:49.738858Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.151",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of STR: FXN_GAA: Added comment: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.; Changed rating: GREEN",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2019-05-22T12:15:16.262972Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.151",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: CACNA1A_CAG: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T12:14:54.349605Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.151",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: ATXN7_CAG: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T12:14:23.781374Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.151",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of STR: ATXN3_CAG: Added comment: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.; Changed rating: GREEN",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T12:13:46.187123Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.151",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: ATXN2_CAG: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T12:13:14.175849Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.151",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of STR: ATXN1_CAG: Added comment: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.; Changed rating: GREEN",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T12:06:52.626307Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.151",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of STR: ATXN10_ATTCT: Added comment: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.; Changed rating: GREEN",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2019-05-22T12:04:58.451686Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.151",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: HTT_CAG as Amber List (moderate evidence)",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T12:04:58.448842Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.151",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May Agreed to change the rating from Green to Amber. Further comment: risk element- needs further discussion from data analysis from 100K Genomes Project.",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T12:04:58.434119Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.151",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: htt_cag has been classified as Amber List (Moderate Evidence).",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T10:55:41.101996Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.150",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: FXN as Green List (high evidence)",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2019-05-22T10:55:41.095760Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.150",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: fxn has been classified as Green List (High Evidence).",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2019-05-22T10:39:15.188603Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.149",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: FXN was added\ngene: FXN was added to Hereditary spastic paraplegia - adult onset. Sources: Expert Review\nMode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FXN were set to 8596916; 9150176; 9737785; 21830088\nPhenotypes for gene: FXN were set to Friedreich ataxia, 229300\nReview for gene: FXN was set to GREEN\nAdded comment: New Green gene added and agreed from the GMS Neurology Specialist Test Group Webex on 17th May 2019. Single nucleotide variants can cause the disease (often compound het STR + SNV) \nSources: Expert Review",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:30.222717Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: WDR45B: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:30.211354Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VPS37A: Green gene with Red GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:30.200219Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VAMP1: Green gene with Red and Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:30.189333Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: UCHL1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:30.164197Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TECPR2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:30.152201Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SPART: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:30.137927Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLC33A1: Green gene with Red GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Red rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:30.126306Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLC1A4: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:30.114589Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLC16A2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:30.102123Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SERAC1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:30.090600Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: REEP2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:30.079559Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PSEN1: Green gene with Red GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:30.067715Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: POLR3A: Red gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:30.056697Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NT5C2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:30.043293Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NKX6-2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:30.030016Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MTPAP: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:30.017964Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MARS2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:30.005124Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MAG: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.993717Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: LYST: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.981709Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: L1CAM: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.969889Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KIF1C: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.955111Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KIDINS220: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.940904Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KDM5C: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.928510Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: IBA57: Green gene with Red and Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.916461Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HACE1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.904752Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GJC2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.893762Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GCH1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.881817Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FARS2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.870409Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ERLIN1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.856861Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ENTPD1: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.845059Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DSTYK: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.833735Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DARS: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.821861Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CYP2U1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.810076Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CPT1C: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.798325Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: C19orf12: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.784786Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: C12orf65: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.772725Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: BSCL2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.760606Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ATP13A2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.748544Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ARG1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.736862Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP4S1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.725472Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP4M1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.713395Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP4E1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.701550Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP4B1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.689105Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AMPD2: Green gene with Red and Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.677518Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ALS2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.664172Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AIMP1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.652520Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AFG3L2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:14:29.640391Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ADAR: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:08:46.793823Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.147",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to VPS37A.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:08:46.683163Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.147",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to VAMP1.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:08:46.481679Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.147",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to TECPR2.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:08:46.274661Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.147",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to SLC33A1.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:08:45.672723Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.147",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to POLR3A.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:08:45.353758Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.147",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to MTPAP.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:08:45.145859Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.147",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to MARS2.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:08:45.039905Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.147",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to MAG.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:08:44.935052Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.147",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to LYST.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:08:44.423921Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.147",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to IBA57.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:08:44.219640Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.147",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to GJC2.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:08:43.822968Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.147",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ENTPD1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:08:43.706458Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.147",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to DSTYK.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:08:43.395582Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.147",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to CPT1C.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:08:42.351369Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.147",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to AMPD2.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:55:58.329722Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:55:32.524624Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:54:45.648559Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:54:09.424225Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:53:40.412191Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:53:30.019742Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:53:21.797455Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:53:09.330997Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:52:58.726191Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:52:48.678451Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:52:25.233958Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:52:07.347624Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:51:57.718330Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:51:40.501641Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:51:32.460975Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:51:18.183426Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:51:04.742602Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:50:56.632401Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:50:44.601151Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:50:26.905998Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:50:12.580079Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:49:52.475964Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:49:43.975717Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:49:34.013845Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:49:24.925417Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:49:18.082592Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:49:09.889253Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:49:02.605888Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:48:54.282743Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:48:32.435049Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:48:25.067689Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:48:16.516484Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:48:10.442117Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:48:01.461076Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:47:53.494055Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:47:44.793369Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:47:16.333784Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:47:04.291159Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:46:56.889035Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:46:14.178453Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:46:07.754889Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:45:55.730832Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:45:46.346700Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:45:38.182123Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:45:23.989467Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:45:16.682998Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:45:07.819615Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:45:01.983795Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:44:45.171988Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:44:33.887761Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:44:23.034023Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:44:14.930041Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:44:06.722686Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:43:59.686416Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:43:50.378402Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:43:41.732833Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:43:33.510063Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:43:28.242577Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:43:22.889830Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:43:10.122202Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:43:03.032587Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:42:57.355332Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:42:47.008713Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:42:40.074121Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:42:33.853051Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:42:26.781803Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:42:16.360515Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:42:09.624397Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:41:50.574251Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:41:44.895475Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:41:32.924835Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:41:27.545644Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:41:20.592953Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:41:11.793320Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:40:18.526799Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:39:58.716614Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:39:34.170569Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:39:22.052072Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:39:10.012521Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:38:57.823640Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:36:01.420238Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:35:49.757541Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T13:26:59.423324Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ZFYVE27 were set to Mannan AU (2006)",
"entity_name": "ZFYVE27",
"entity_type": "gene"
},
{
"created": "2019-05-13T13:26:48.769246Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.145",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZFYVE27 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ZFYVE27",
"entity_type": "gene"
},
{
"created": "2019-05-13T13:26:29.993485Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.144",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ZFYVE26 were set to ",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-05-13T13:25:42.573258Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.143",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: WDR48 were changed from to Spastic paraplegia",
"entity_name": "WDR48",
"entity_type": "gene"
},
{
"created": "2019-05-13T13:24:29.522812Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.142",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: WDR48 were set to Novarino et al. (2014)",
"entity_name": "WDR48",
"entity_type": "gene"
},
{
"created": "2019-05-13T13:24:15.473269Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.141",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR48 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR48",
"entity_type": "gene"
},
{
"created": "2019-05-13T13:23:56.312289Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.140",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: WDR45B were set to ",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-05-13T13:23:29.707059Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.139",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: WASHC5 were set to ",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-05-13T13:22:18.899365Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.138",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: VPS37A were set to Zivony-Elboum et al. (2012)",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-05-13T13:20:47.221572Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.137",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: VAMP1 were set to 22958904",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T13:20:14.165455Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: USP8 were set to Novarino et al. (2014)",
"entity_name": "USP8",
"entity_type": "gene"
},
{
"created": "2019-05-13T13:19:48.575958Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: USP8 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USP8",
"entity_type": "gene"
},
{
"created": "2019-05-13T13:19:20.377827Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: UCHL1 were set to ",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-05-13T13:13:49.285064Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: TFG were set to Beetz (2013) 23479643",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-05-13T13:12:22.987034Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SPG21 were set to ",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:50:01.325625Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.131",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SPG11 were set to ",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:36:19.499361Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.130",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SPAST were set to ",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:31:30.405255Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.129",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SPART were set to ",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:31:14.416082Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.128",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SLC33A1 were set to Lin et al. (2008)",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:30:51.773286Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.127",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SLC25A46 were set to ",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:30:31.406616Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.126",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SLC1A4 were set to ",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:30:04.487369Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.125",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SLC16A2 were set to ",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:29:44.095076Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.124",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SERAC1 were set to ",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:29:27.353433Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.123",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SACS were set to ",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:29:03.292152Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.122",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: RTN2 were set to ",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:28:32.567415Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.121",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: REEP2 were set to 24388663",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:28:13.089988Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.120",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: REEP1 were set to ",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:27:52.437893Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.119",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB3GAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:27:33.889053Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.118",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: PSEN1 were set to ",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:27:03.892237Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.117",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: POLR3A were set to ",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:26:47.044486Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.116",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: PNPLA6 were set to ",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:26:29.552218Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.115",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: PLP1 were set to ",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:26:07.470890Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.114",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: PGAP1 were set to Novarino et al. (2014)",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:21:12.395957Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.113",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: PCDH12 were set to 27164683",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:21:01.417644Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.112",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCDH12 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:20:17.392527Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.111",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: NKX6-2 were set to ",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-05-13T12:19:51.657919Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.110",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: NIPA1 were set to ",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-05-13T11:47:28.325305Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.109",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: MTPAP were set to ",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-05-13T11:46:45.809474Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.108",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: MARS were set to Novarino et al. (2014)",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2019-05-13T11:46:34.417963Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.107",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: MARS was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2019-05-13T11:45:19.095395Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.106",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: L1CAM were set to ",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-05-13T11:41:07.306407Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.105",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLC4 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2019-05-13T11:40:42.496889Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.104",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: KIF5A were set to ",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-05-13T11:40:10.523819Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.103",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: KIF1C were set to 24482476; 24319291; 17273843",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-05-13T11:37:56.617227Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.102",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: KIF1A were set to ",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-05-13T11:37:42.527032Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.101",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-05-13T11:36:47.158176Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.100",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: KIDINS220 were set to ",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-05-13T11:36:02.340373Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.99",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: KDM5C were set to 10982473; 26919706; 15586325",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-05-13T11:35:22.702519Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.98",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-05-13T11:35:08.680151Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.97",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: KCNA2 were set to 5129488",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-05-13T11:32:21.696023Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.96",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: HSPD1 were set to ",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T11:29:09.876138Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.95",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: HACE1 were set to ",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-05-13T11:28:07.429184Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.94",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: GJC2 were changed from Spastic paraplegia 44, autosomal recessive; Spastic paraplegia 44, autosomal recessive 613206, AR; Lymphatic malformation 3, 613480, AD; Leukodystrophy, hypomyelinating, 2, 608804, AR to Spastic paraplegia 44, autosomal recessive; Spastic paraplegia 44, autosomal recessive 613206, AR; Leukodystrophy, hypomyelinating, 2, 608804, AR",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-05-13T11:27:08.375219Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.93",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: GJC2 were set to Orthmann-Murphy et al. (2009)",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-05-13T11:00:08.516740Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.92",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: GBA2 were set to ",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:59:42.584147Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.91",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: GAD1 were changed from Cerebralpalsy,spasticquadriplegic,1, 603513 to Cerebralpalsy, spasticquadriplegic,1, 603513",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:59:30.884955Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.90",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: GAD1 were set to ",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:59:22.483989Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.89",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: GAD1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:58:48.664146Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.88",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: FA2H were set to ",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:58:30.685370Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.87",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ERLIN2 were set to ",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:57:58.499373Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.86",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia 64,615683 to Spasticparaplegia 64, 615683",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:57:50.552804Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.85",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ENTPD1 were set to Novarino et al. (2014)",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:57:05.325666Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.84",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DDHD2 were set to ",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:56:43.839478Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.83",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DDHD1 were set to ",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:55:51.070666Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.82",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CYP7B1 were set to ",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:55:31.244369Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.81",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CYP2U1 were set to ",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:54:41.209151Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.80",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CPT1C were set to ",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:54:16.025446Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.79",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CDK16 were set to ",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:53:56.341114Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.78",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CCT5 were set to ",
"entity_name": "CCT5",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:53:33.973465Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CAPN1 were set to ",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:52:34.510301Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: C19orf12 were set to ",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:52:13.100351Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: C12orf65 were set to ",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:51:55.831289Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: BSCL2 were set to ",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:51:36.953759Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.73",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: B4GALNT1 were set to ",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:51:14.257165Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ATP13A2 were set to 28137957; 27217339",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:50:50.718934Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.71",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ATL1 were set to ",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:50:19.620274Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ARSI were set to Novarino et al. (2014)",
"entity_name": "ARSI",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:50:18.665859Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ARSI were set to Novarino et al. (2014)",
"entity_name": "ARSI",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:50:07.776885Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.69",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARSI was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSI",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:49:52.558716Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.68",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ARL6IP1 were changed from to 24482476; 28471035",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:49:32.761547Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.67",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ARG1 were set to ",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:49:13.108680Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.66",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: AP5Z1 were set to 27606357",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:48:48.040006Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.65",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: AP4S1 were set to ",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:48:28.491153Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.64",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: AP4M1 were set to ",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:48:06.053154Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.63",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: AP4E1 were set to ",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:47:13.795892Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: AP4B1 were set to ",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:46:37.925454Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: AMPD2 were set to Novarino et al. (2014)",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:45:58.871409Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.60",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ALS2 were set to ",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:45:32.191234Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.59",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ALDH18A1 were set to ",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:45:12.706530Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.58",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: AIMP1 were set to ",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:44:33.961931Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.57",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ADAR were set to ",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-05-13T10:44:13.414920Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ABCD1 were set to ",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:55:02.503593Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ZFYVE27.",
"entity_name": "ZFYVE27",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:55:02.133467Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ZEB2.",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:55:02.015961Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to WDR48.",
"entity_name": "WDR48",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:55:01.470222Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to USP8.",
"entity_name": "USP8",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:55:01.256825Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to UBAP1.",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:59.377132Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RAB3GAP2.",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:58.855042Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PGAP1.",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:58.738667Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PCDH12.",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:58.018411Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MARS.",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:57.587527Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KLC4.",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:56.160349Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GAD1.",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:55.555284Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ENTPD1.",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:54.505755Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CCT5.",
"entity_name": "CCT5",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:53.684300Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ARSI.",
"entity_name": "ARSI",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:53.564482Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ARL6IP1.",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:11.207959Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ZFYVE27.",
"entity_name": "ZFYVE27",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:11.093935Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ZFYVE26.",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:10.983285Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ZEB2.",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:10.878090Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to WDR48.",
"entity_name": "WDR48",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:10.765178Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to WDR45B.",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:10.655984Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to WASHC5.",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:10.550052Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to VPS37A.",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:10.438797Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to VAMP1.",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:10.244386Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to USP8.",
"entity_name": "USP8",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:10.126486Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to UCHL1.",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:10.019193Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to UBAP1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:09.911136Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to TUBB4A.",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:09.802596Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to TFG.",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:09.689298Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to TECPR2.",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:09.574106Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SPG7.",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:09.460721Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SPG21.",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:09.347816Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SPG11.",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:09.236296Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SPAST.",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:09.123524Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SPART.",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:09.004687Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SLC33A1.",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:08.875966Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SLC25A46.",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:08.748229Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SLC1A4.",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:08.628107Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SLC16A2.",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:08.495027Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SERAC1.",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:08.360360Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SACS.",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:08.233504Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to RTN2.",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:08.110395Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to REEP2.",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:07.964377Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to REEP1.",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:07.835198Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to RAB3GAP2.",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:07.709494Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to PSEN1.",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:07.585360Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to POLR3A.",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:07.470800Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to PNPLA6.",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:07.352459Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to PLP1.",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:07.234179Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to PGAP1.",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:07.115136Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to PCDH12.",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:07.006522Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to OPA3.",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:06.893030Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to NT5C2.",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:06.773071Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to NKX6-2.",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:06.665599Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to NIPA1.",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:06.548859Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to MTPAP.",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:06.429255Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to MARS2.",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:06.315586Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to MARS.",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:06.196907Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to MAG.",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:06.077563Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to LYST.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:05.965703Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to L1CAM.",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:05.853627Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to KLC4.",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:05.743965Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to KIF5A.",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:05.628972Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to KIF1C.",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:05.511218Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to KIF1A.",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:05.395006Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to KIDINS220.",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:05.271427Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to KDM5C.",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:05.155031Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to KCNA2.",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:05.039221Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to IBA57.",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:04.929622Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to HSPD1.",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:04.814864Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to HACE1.",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:04.707299Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to GJC2.",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:04.591373Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to GCH1.",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:04.460479Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to GBA2.",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:04.318918Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to GAD1.",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:04.192398Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to FARS2.",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:04.069269Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to FA2H.",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:03.949865Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ERLIN2.",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:03.830717Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ERLIN1.",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:03.706020Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ENTPD1.",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:03.576480Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to DSTYK.",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:03.455024Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to DDHD2.",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:03.332946Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to DDHD1.",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:03.204189Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to DARS.",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:03.083589Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to CYP7B1.",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:02.962653Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to CYP2U1.",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:02.839591Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to CYP27A1.",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:02.710966Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to CPT1C.",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:02.579852Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to CDK16.",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:02.457799Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to CCT5.",
"entity_name": "CCT5",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:02.338483Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to CAPN1.",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:02.214994Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to C19orf12.",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:02.098857Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to C12orf65.",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:01.977790Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to BSCL2.",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:01.856685Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to B4GALNT1.",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:01.734397Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ATP13A2.",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:01.599083Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ATL1.",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:01.474608Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ARSI.",
"entity_name": "ARSI",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:01.348658Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ARL6IP1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:01.231261Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ARG1.",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:01.104870Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to AP5Z1.",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:00.987573Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to AP4S1.",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:00.859831Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to AP4M1.",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:00.738246Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to AP4E1.",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:00.613614Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to AP4B1.",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:00.471620Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to AMPD2.",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:00.331604Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ALS2.",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:00.208407Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ALDH18A1.",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:54:00.089809Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to AIMP1.",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:53:59.965194Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to AFG3L2.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:53:59.844912Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ADAR.",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:53:59.721270Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ABCD1.",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-05-10T13:19:35.410196Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ZFYVE27: Rating: RED; Mode of pathogenicity: None; Publications: 16826525, 22554690, 29980238; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZFYVE27",
"entity_type": "gene"
},
{
"created": "2019-05-10T13:14:21.856690Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ZEB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2019-05-10T13:09:39.577800Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: USP8: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "USP8",
"entity_type": "gene"
},
{
"created": "2019-05-10T13:06:39.297156Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2019-05-10T13:00:09.243369Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: PGAP1: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:55:32.117151Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: PCDH12: Rating: RED; Mode of pathogenicity: None; Publications: 27164683, 29556033; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:52:43.166124Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: MARS: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:46:44.881726Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: KLC4: Rating: RED; Mode of pathogenicity: None; Publications: 26423925; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:40:52.019834Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: None; Publications: 16399879; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CCT5",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:20:53.748194Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ARSI: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ARSI",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:16:32.517235Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: WDR48: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "WDR48",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:07:23.027683Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15571623, 28454995; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:02:49.460156Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 29691679; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:58:36.352533Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 11898127; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:55:38.653662Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: None; Publications: 25644381; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:52:03.916089Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: UBAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30929741; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:51:12.578869Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 24482476, 28471035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:36:30.781157Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25655951, 21855841, 28459997; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:28:44.985204Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: CPT1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25751282, 30564185; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:12:53.408240Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 18394578, 19805727; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:10:51.872536Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: VPS37A: Rating: RED; Mode of pathogenicity: None; Publications: 22717650; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:05:25.455707Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29735986, 28007905, 23359680; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:51:21.589974Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: None; Publications: 21937992, 28503735; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:48:18.803541Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 22958904, 27957547; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:37:43.397831Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17160902, 23455931; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:34:35.587196Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:28:56.339382Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: 23479643, 27601211, 28124177, 27492651; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:25:15.070545Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23176824, 26542466; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:06:43.525651Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:06:09.957441Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "commented on gene: SPG21: Adult onset, three families reported. No additional patients identified using Sheffield panel.",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:04:02.820701Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: None; Publications: 14564668, 28752238, 24451228; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-05-10T09:59:44.168271Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2019-05-10T09:58:15.350705Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2019-05-10T09:50:16.912404Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: SPART: Rating: AMBER; Mode of pathogenicity: None; Publications: 12134148, 18413476, 26003402, 20301556; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-05-10T09:46:02.698787Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: None; Publications: 28369803; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-05-10T09:35:28.170751Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: SLC33A1: Rating: RED; Mode of pathogenicity: None; Publications: 19061983, 25402622; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-05-10T09:30:02.913735Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: SLC1A4: Rating: AMBER; Mode of pathogenicity: None; Publications: 29989513, 27193218, 26138499, 26041762, 25930971; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2019-05-10T09:27:22.273556Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 14661163, 19194886; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-05-10T09:21:57.288335Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: SERAC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29205472, 22683713, 16527507, 28482397, 28778788, 27186703, 27604308; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-05-10T09:17:38.680841Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10655055, 20876471; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2019-05-10T09:15:58.709388Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22232211, 24123792, 28362824; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-05-10T09:14:09.375747Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: REEP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24388663, 28491902, 24482476; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-05-10T08:18:14.958209Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826527, 18321925; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2019-05-10T08:14:21.486083Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22517194; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-05-10T07:54:50.160729Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313024, 24355708, 23733235; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-05-10T07:53:18.457501Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8012387, 11093273, 7488049; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2019-05-10T07:47:38.480171Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 10982473, 15586325, 26919706, 18697827; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-05-10T07:39:25.206715Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20970105, 27391121; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-05-10T07:34:15.605820Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22448145; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-05-10T07:26:57.616145Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-05-10T07:17:28.512752Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 24319291, 24808017; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-05-09T18:22:48.489328Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2019-05-09T18:21:00.460526Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 28327087, 28884889, 29123918; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-05-09T18:18:38.789573Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28575651, 15601927, 29388673; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-05-09T18:14:30.309911Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-05-09T18:06:41.095570Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15711826, 14508710, 15643603; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-05-09T18:02:46.418654Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: None; Publications: 7920659, 7920660, 7562969; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-05-09T17:58:32.225939Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12355402, 16476820; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-05-09T17:56:59.021166Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27543892, 28032718; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-05-09T17:44:23.181418Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21487076, 22258533, 28362824; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-05-09T17:38:46.255073Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-05-09T17:31:29.156342Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: None; Publications: 27005418, 29667355; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-05-09T17:27:53.446536Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19056803; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-05-09T17:17:54.193333Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-05-09T17:04:58.257163Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26424145, 26437029; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:58:02.135470Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23332916, 24337409, 24252062; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:00.523363Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:08.030508Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ZFYVE26: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:08.017422Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: WDR45B: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:08.004940Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: WASHC5: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.992354Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VPS37A: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.978320Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VAMP1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.964881Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: UCHL1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.952799Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TUBB4A: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.939684Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TFG: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.926929Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TECPR2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.910956Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SPG7: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.898186Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SPG21: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.885786Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SPG11: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.873763Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SPAST: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.861971Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SPART: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.847299Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLC33A1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.834447Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLC25A46: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.820670Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLC1A4: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.807512Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLC16A2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.795581Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SERAC1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.782277Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SACS: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.766602Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RTN2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.754485Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: REEP2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.742673Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: REEP1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.730575Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PSEN1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.718072Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: POLR3A: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.705764Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PNPLA6: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.692635Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PLP1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.680717Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: OPA3: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.668538Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NT5C2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.656279Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NKX6-2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.643031Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NIPA1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.631199Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MTPAP: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.619331Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MARS2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.606463Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MAG: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.592787Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: LYST: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.578760Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: L1CAM: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.565441Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KIF5A: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.552033Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KIF1C: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.537843Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KIF1A: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.524595Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KIDINS220: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.510086Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KDM5C: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.491204Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KCNA2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.477758Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: IBA57: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.463938Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HSPD1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.450838Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HACE1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.437464Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GJC2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.423231Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GCH1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.409366Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GBA2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.396112Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FARS2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.382913Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FA2H: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.369157Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ERLIN2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.354600Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ERLIN1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.339958Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DSTYK: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.325696Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DDHD2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.306208Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DDHD1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.292209Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DARS: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.278022Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CYP7B1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.264156Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CYP2U1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.249597Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CYP27A1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.235796Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CPT1C: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.220807Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CDK16: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.206779Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CAPN1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.190376Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: C19orf12: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.174620Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: C12orf65: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.162082Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: BSCL2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.147263Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: B4GALNT1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.134728Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ATP13A2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.120675Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ATL1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.106734Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ARG1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.092553Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP5Z1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.079273Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP4S1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.066338Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP4M1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.053824Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP4E1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.041508Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP4B1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.028234Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AMPD2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.015359Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ALS2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:07.002445Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ALDH18A1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:06.990274Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AIMP1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:06.977499Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AFG3L2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:06.964745Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ADAR: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:50:06.950556Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ABCD1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:49:33.058406Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 19068277, 20853438; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-05-09T12:58:00.579183Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21330303, 21796390, 29691679, 29528531; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2019-05-09T12:17:29.875821Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-05-09T12:10:54.215459Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-05-09T12:03:39.180731Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176823, 23486545, 25417924; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-05-09T11:15:13.208948Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821, 24989667, 26944165; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-05-09T11:08:52.414595Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 23643384, 25527264; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-05-09T11:07:00.959796Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18252231, 19187859, 29126212; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2019-05-09T11:03:57.384073Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23176821, 24337409; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-05-09T10:54:31.262527Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-05-08T16:45:59.788504Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27153400, 29678961, 28566166; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-05-08T16:38:47.461062Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: None; Publications: 23857908, 26539891; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-05-08T16:23:41.278183Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: None; Publications: 23188110, 24424123; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-05-03T16:43:37.062931Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: BSCL2: Rating: AMBER; Mode of pathogenicity: None; Publications: 14981520, 17387721; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-05-03T16:40:08.401956Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551, 24283893; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-05-03T16:33:26.840053Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28137957, 27217339, 27165006; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-05-03T16:28:21.861955Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11685207, 15517445; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2019-05-03T16:26:43.633229Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 2365823, 1463019, 23859858; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-05-03T16:23:14.026813Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20613862, 24833714, 27606357; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-05-03T16:15:23.111813Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21620353, 27444738, 25552650; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-05-03T16:13:26.093013Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19559397, 24700674, 29096665; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-05-03T16:11:23.302818Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21620353, 23472171; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-05-03T16:09:05.474877Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21620353, 24700674; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-05-03T16:05:59.833058Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 27159321; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-05-03T15:31:44.797686Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12145748, 15247254, 27601211; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-05-03T15:28:56.375484Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26026163, 26297558; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2019-05-03T15:21:49.230373Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21092922, 30477741, 30486714; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-05-03T15:17:54.552321Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-05-03T13:09:35.332563Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: None; Publications: 25243380, 25604658; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-05-03T12:51:07.542656Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 61263, 17372139; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-05-02T13:22:01.992322Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: UBAP1 as Green List (high evidence)",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2019-05-02T13:22:01.986936Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ubap1 has been classified as Green List (High Evidence).",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2019-05-02T13:21:47.956599Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.51",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: UBAP1 was added\ngene: UBAP1 was added to Hereditary spastic paraplegia - adult onset. Sources: Literature\nMode of inheritance for gene: UBAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: UBAP1 were set to 30929741\nPhenotypes for gene: UBAP1 were set to Hereditary spastic paraplegia\nReview for gene: UBAP1 was set to GREEN\nAdded comment: From PMID:30929741: reported the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1. They identified pathological truncating variants in UBAP1 in affected persons from Iran, USA, Germany, Canada, Spain, and Bulgarian Roma. The genetic support ranges from linkage in the largest family (LOD = 8.3) to three confirmed de novo mutations. They also showed that mRNA in the fibroblasts of affected individuals escapes nonsense-mediated decay and thus leads to the expression of truncated proteins; in addition, concentrations of the full-length protein are reduced in comparison to those in controls. \nSources: Literature",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2019-05-02T11:00:03.176481Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.50",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: WDR48 as Amber List (moderate evidence)",
"entity_name": "WDR48",
"entity_type": "gene"
},
{
"created": "2019-05-02T11:00:03.165384Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.50",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: wdr48 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDR48",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:30:50.261966Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.49",
"user_name": "Michael Bonello",
"item_type": "entity",
"text": "commented on gene: GCH1: Upgrade from Amber to Green on the HSP panel. General neurologists may have difficulty distinguishing between patients with HSP and DOPA-responsive dystonia. Therefore if the clinician puts them forward for the HSP panel and this gene isn't included a differential diagnosis could be missed. Importantly - this is a life changing condition that could be treated if a pathogenic variant was identified.",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-04-27T23:21:03.992945Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.48",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia64,615683 to Spasticparaplegia 64,615683",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2019-04-27T23:20:57.165287Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.47",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: ENTPD1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2019-04-27T23:20:50.158596Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.46",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: ENTPD1 as Amber List (moderate evidence)",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2019-04-27T23:20:50.153093Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.46",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: entpd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2019-04-27T23:20:38.404554Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.45",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: GAD1 as Amber List (moderate evidence)",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-04-27T23:20:38.394133Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.45",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: gad1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-04-27T23:19:38.740551Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.44",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: ARL6IP1 as Green List (high evidence)",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-04-27T23:19:38.730410Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.44",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: arl6ip1 has been classified as Green List (High Evidence).",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:39:47.065348Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.43",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: PGAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:21.602808Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ZFYVE27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ZFYVE27",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:21.375483Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ZEB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:21.358592Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: WDR48: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WDR48",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:21.339416Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VPS37A: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:21.123855Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VAMP1: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:21.111616Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: USP8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "USP8",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:21.095441Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TFG: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:21.082303Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TECPR2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:21.068861Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLC33A1: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:21.055881Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: REEP2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:21.044536Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RAB3GAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:21.028832Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PSEN1: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:21.014922Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.998129Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PCDH12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.979370Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NT5C2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.964966Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MTPAP: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.949199Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MARS2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.935367Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.917264Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MAG: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.902660Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: LYST: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.889300Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KLC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.873837Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KIF1C: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.860770Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KDM5C: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.846650Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: IBA57: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.832861Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GJC2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.817815Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GCH1: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.805275Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.789075Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ERLIN1: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.777922Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ENTPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.762730Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DSTYK: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.748633Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DARS: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.736258Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CCT5",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.720370Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ATP13A2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.708820Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ARSI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ARSI",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.694252Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ARL6IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.677079Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP5Z1: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:30:20.662594Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AMPD2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:25:18.668592Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: UCHL1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:25:07.365408Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.40",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: MARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:24:22.615017Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.39",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTPAP was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:24:13.968721Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.38",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: NT5C2 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:23:56.339460Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.37",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC33A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:23:47.340486Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.36",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: TFG was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:23:19.289023Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.35",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: VAMP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:23:04.831361Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS37A was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:22:57.210027Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARL6IP1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:21:51.257848Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.32",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF1C was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:21:04.962069Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJC2 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:19.266954Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 33, autosomal dominant for gene: ZFYVE27\nPublications for gene ZFYVE27 were changed from to Mannan AU (2006)",
"entity_name": "ZFYVE27",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:19.081021Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene WDR48 were changed from to Novarino et al. (2014)",
"entity_name": "WDR48",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:18.994519Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 53, autosomal recessive for gene: VPS37A\nPublications for gene VPS37A were changed from to Zivony-Elboum et al. (2012)",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:18.907230Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1\nPublications for gene VAMP1 were changed from to 22958904",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:18.820652Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene USP8 were changed from to Novarino et al. (2014)",
"entity_name": "USP8",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:18.719998Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene TFG were changed from to Beetz (2013) 23479643",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:18.624417Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2\nPublications for gene TECPR2 were changed from to 23176824; 26542466",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:18.533664Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 42, autosomal dominant for gene: SLC33A1\nPublications for gene SLC33A1 were changed from to Lin et al. (2008)",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:18.446077Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: REEP2\nPublications for gene REEP2 were changed from to 24388663",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:18.355285Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes spastic paraplegia; Warburg micro syndrome 2, 614225 for gene: RAB3GAP2\nPublications for gene RAB3GAP2 were changed from to 24482476",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:18.269820Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Alzheimer disease, type 3, with spastic paraparesis and apraxia; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques for gene: PSEN1",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:18.180064Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene PGAP1 were changed from to Novarino et al. (2014)",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:18.095601Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes microcephaly; midbrain abnormalities; perithalamic hyperechogenicity; intellectual disability; epilepsy; periventricular hyperechogenicity; hypothalamic abnormalities for gene: PCDH12\nPublications for gene PCDH12 were changed from to 27164683",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:18.010006Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spasticparaplegia45, autosomal recessive, 613162 for gene: NT5C2\nPublications for gene NT5C2 were changed from to 28327087; 28884889; 24482476; 29123918",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:17.926043Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive for gene: MTPAP",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:17.837115Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic ataxia 3, autosomal recessive for gene: MARS2\nPublications for gene MARS2 were changed from to Bayat (2012), 22448145",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:17.747339Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene MARS were changed from to Novarino et al. (2014)",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:17.658135Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 75, autosomal recessive, 616680 for gene: MAG\nPublications for gene MAG were changed from to 26179919; 24482476",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:17.566047Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes spastic paraplegia; Chediak-Higashi syndrome, 214500 for gene: LYST\nPublications for gene LYST were changed from to 24521565; 26307451; 25519961; 25519960",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:17.479500Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes spastic paraplegia; progressive complicated spastic paraplegia for gene: KLC4\nPublications for gene KLC4 were changed from to 26423925",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:17.390775Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic ataxia 2, autosomal recessive for gene: KIF1C\nPublications for gene KIF1C were changed from to 24482476; 24319291; 17273843",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:17.303178Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Intellectual disability; developmental delay; epilepsy; progressive spasticity; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; hypothyroidism for gene: KDM5C\nPublications for gene KDM5C were changed from to 10982473; 26919706; 15586325",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:17.214923Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57\nPublications for gene IBA57 were changed from to 30258207; 25609768",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:17.125403Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 44, autosomal recessive for gene: GJC2\nPublications for gene GJC2 were changed from to Orthmann-Murphy et al. (2009)",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:17.037274Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Dystonia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; progressive spastic paraplegia; Spastic paraplegia for gene: GCH1\nPublications for gene GCH1 were changed from to 24509643; 21935284",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:16.948972Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Cerebralpalsy,spasticquadriplegic,1, 603513 for gene: GAD1",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:16.863967Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 for gene: ERLIN1\nPublications for gene ERLIN1 were changed from to 24482476",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:16.769902Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spasticparaplegia64,615683 for gene: ENTPD1\nPublications for gene ENTPD1 were changed from to Novarino et al. (2014)",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:16.682478Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 23, 270750 for gene: DSTYK\nPublications for gene DSTYK were changed from to 28157540",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:16.594177Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes leg spasticity; Brain stem and spinal cord Hypomyelination; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS\nPublications for gene DARS were changed from to 23643384; 25527264",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:16.505406Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Sensory Neuropathy with Spastic Paraplegia; Neuropathy, hereditary sensory, with spastic paraplegia for gene: CCT5",
"entity_name": "CCT5",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:16.415529Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia for gene: ATP13A2\nPublications for gene ATP13A2 were changed from to 28137957; 27217339",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:16.325362Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene ARSI were changed from to Novarino et al. (2014)",
"entity_name": "ARSI",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:16.235176Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene ARL6IP1 were changed from to 24482476; 28471035",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:16.144859Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive for gene: AP5Z1\nPublications for gene AP5Z1 were changed from to 27606357",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:20:16.047273Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic) for gene: AMPD2\nPublications for gene AMPD2 were changed from to Novarino et al. (2014)",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:33.359780Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: ZFYVE27: Rating: RED; Mode of pathogenicity: ; Publications: Mannan AU (2006); Phenotypes: Spastic paraplegia 33, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ZFYVE27",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:33.343866Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: ZEB2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:33.328129Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: WDR48: Rating: AMBER; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR48",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:33.312315Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: VPS37A: Rating: RED; Mode of pathogenicity: ; Publications: Zivony-Elboum et al. (2012); Phenotypes: Spastic paraplegia 53, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:33.296423Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: 22958904; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:33.280304Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: USP8: Rating: RED; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USP8",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:33.264920Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: ; Publications: Beetz (2013) 23479643; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:33.249120Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23176824, 26542466; Phenotypes: Spastic paraplegia 49, autosomal recessive, 615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:33.233382Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: SLC33A1: Rating: RED; Mode of pathogenicity: ; Publications: Lin et al. (2008); Phenotypes: Spastic paraplegia 42, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:33.217842Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24388663; Phenotypes: ?Spastic paraplegia 72, autosomal recessive, 615625, ?Spastic paraplegia 72, autosomal dominant,615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:33.203347Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: ; Publications: 24482476; Phenotypes: spastic paraplegia, Warburg micro syndrome 2, 614225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:33.184336Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: PSEN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Alzheimer disease, type 3, with spastic paraparesis and apraxia, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; Mode of inheritance: ",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:33.169819Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: PGAP1: Rating: RED; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:33.154367Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: PCDH12: Rating: RED; Mode of pathogenicity: ; Publications: 27164683; Phenotypes: intellectual disability, microcephaly, epilepsy, perithalamic hyperechogenicity, periventricular hyperechogenicity, midbrain abnormalities, hypothalamic abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:33.065314Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24482476, 28884889, 28327087, 29123918; Phenotypes: Spasticparaplegia45, autosomal recessive, 613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:33.049787Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, spastic, 4, Spastic ataxia 4, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:33.034781Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: Bayat (2012), 22448145; Phenotypes: Spastic ataxia 3, autosomal recessive ; Mode of inheritance: ",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:33.019441Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: MARS: Rating: RED; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:33.004811Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: ; Publications: 24482476, 26179919; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:32.989977Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: 24521565, 26307451, 25519960, 25519961; Phenotypes: spastic paraplegia, Chediak-Higashi syndrome, 214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:32.974057Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: KLC4: Rating: RED; Mode of pathogenicity: ; Publications: 26423925; Phenotypes: spastic paraplegia, progressive complicated spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:32.959463Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 24482476, 24319291, 24482476, 17273843; Phenotypes: Spastic ataxia 2, autosomal recessive ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:32.945045Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: 10982473, 15586325, 26919706; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534, Intellectual disability, developmental delay, progressive spasticity, epilepsy, hypothyroidism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:32.929653Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: IBA57: Rating: RED; Mode of pathogenicity: ; Publications: 25609768, 30258207; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:32.914478Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: Orthmann-Murphy et al. (2009); Phenotypes: Spastic paraplegia 44, autosomal recessive ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:32.899326Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24509643, 21935284; Phenotypes: Dystonia, Spastic paraplegia, progressive spastic paraplegia, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:32.883153Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebralpalsy,spasticquadriplegic,1, 603513; Mode of inheritance: ",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:32.866824Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24482476; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:32.852378Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: ENTPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: Spasticparaplegia64,615683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:32.837071Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: 28157540; Phenotypes: Spastic paraplegia 23, 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:32.821884Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: 23643384, 25527264; Phenotypes: Brain stem and spinal cord Hypomyelination, leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:32.793481Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia, Sensory Neuropathy with Spastic Paraplegia ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCT5",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:32.778526Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28137957, 27217339; Phenotypes: Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:32.763725Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: ARSI: Rating: RED; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSI",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:32.748819Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28471035, 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:32.733860Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27606357; Phenotypes: Spastic Paraplegia, Recessive , Spastic paraplegia 48, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-04-27T16:17:32.716894Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.29",
"user_name": "Chris Buxton",
"item_type": "entity",
"text": "reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: Pontocerebellar hypolplasia (biallelic), Hereditary Spastic Paraplegia?; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:07.461333Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ZFYVE27 was added\ngene: ZFYVE27 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH\nMode of inheritance for gene: ZFYVE27 was set to ",
"entity_name": "ZFYVE27",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:07.392229Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ZEB2 was added\ngene: ZEB2 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH\nMode of inheritance for gene: ZEB2 was set to ",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:07.326282Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: WDR48 was added\ngene: WDR48 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH\nMode of inheritance for gene: WDR48 was set to ",
"entity_name": "WDR48",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:07.225268Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to VPS37A.",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:07.110308Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to VAMP1.",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:07.032215Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: USP8 was added\ngene: USP8 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH\nMode of inheritance for gene: USP8 was set to ",
"entity_name": "USP8",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:06.940841Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to TFG.",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:06.834191Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to TECPR2.",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:06.730094Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to SLC33A1.",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:06.628888Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to REEP2.",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:06.560968Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RAB3GAP2 was added\ngene: RAB3GAP2 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH\nMode of inheritance for gene: RAB3GAP2 was set to ",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:06.466054Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to PSEN1.",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:06.385629Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PGAP1 was added\ngene: PGAP1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH\nMode of inheritance for gene: PGAP1 was set to ",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:06.314113Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PCDH12 was added\ngene: PCDH12 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH\nMode of inheritance for gene: PCDH12 was set to ",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:06.225357Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to NT5C2.",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:06.125907Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to MTPAP.",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:06.028701Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to MARS2.",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:05.960781Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MARS was added\ngene: MARS was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH\nMode of inheritance for gene: MARS was set to ",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:05.857725Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to MAG.",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:05.757800Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to LYST.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:05.691108Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: KLC4 was added\ngene: KLC4 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH\nMode of inheritance for gene: KLC4 was set to ",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:05.595568Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to KIF1C.",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:05.492061Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to KDM5C.",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:05.387440Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to IBA57.",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:05.270055Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to GJC2.",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:05.176880Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to GCH1.",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:05.111602Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GAD1 was added\ngene: GAD1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH\nMode of inheritance for gene: GAD1 was set to ",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:05.026910Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to ERLIN1.",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:04.960046Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ENTPD1 was added\ngene: ENTPD1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH\nMode of inheritance for gene: ENTPD1 was set to ",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:04.874204Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to DSTYK.",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:04.771383Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to DARS.",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:04.694871Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CCT5 was added\ngene: CCT5 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH\nMode of inheritance for gene: CCT5 was set to ",
"entity_name": "CCT5",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:04.609298Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to ATP13A2.",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:04.543149Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ARSI was added\ngene: ARSI was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH\nMode of inheritance for gene: ARSI was set to ",
"entity_name": "ARSI",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:04.482569Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ARL6IP1 was added\ngene: ARL6IP1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH\nMode of inheritance for gene: ARL6IP1 was set to ",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:04.397537Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to AP5Z1.",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-04-27T15:46:04.261431Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to AMPD2.",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-04-26T13:39:43.641801Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GCH1: Review and rating submitted by Michael Bonello (The Walton Centre NHS Foundation Trust), submitted by Diane Cairns on behalf of North West GLH for GMS Neurology specialist test group.",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-04-26T13:36:19.523367Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to GCH1.\nMode of inheritance for gene GCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-04-26T13:33:32.137719Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.26",
"user_name": "Michael Bonello",
"item_type": "entity",
"text": "reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-04-26T13:11:19.257730Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of STR: PPP2R2B_CAG: Added comment: Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T13:10:52.485709Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: HTT_CAG: Green rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment: str (Variants in this STR are reported as part of current diagnostic practice)",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T13:10:04.197230Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of STR: FXN_GAA: Added comment: Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment str (Variants in this STR are reported as part of current diagnostic practice); Changed rating: AMBER",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2019-04-26T13:09:21.138935Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: CACNA1A_CAG: Green rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T13:08:55.283497Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: ATXN7_CAG: Green rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T13:08:20.437276Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of STR: ATXN3_CAG: Added comment: Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment: str. Diagnostic utility in question due to the expansion size > 60 CAGs; Changed rating: AMBER",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T13:07:41.796419Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: ATXN2_CAG: Green rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T13:07:14.719185Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of STR: ATXN10_ATTCT: Added comment: Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment: str. I'm not convinved NGS (illumina) has diagnostic utility to call an expansion > 800ATTCT repeats?; Changed rating: AMBER",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2019-04-26T13:06:16.763004Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of STR: ATXN1_CAG: Added comment: Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:58:22.969617Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to STR: ATXN1_CAG.",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:58:22.905476Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to STR: TBP_CAG.",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:58:22.841394Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to STR: PPP2R2B_CAG.",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:58:22.778148Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to STR: HTT_CAG.",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:58:22.713876Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to STR: FXN_GAA.",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2019-04-26T12:58:22.659978Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to STR: CACNA1A_CAG.",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:58:22.603004Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to STR: ATXN7_CAG.",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:58:22.544703Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to STR: ATXN3_CAG.",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:58:22.487648Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to STR: ATXN2_CAG.",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:58:22.429816Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to STR: ATXN10_ATTCT.",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2019-04-26T12:56:45.378963Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to STR: ATXN1_CAG.",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:56:45.323091Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to STR: TBP_CAG.",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:56:45.264637Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to STR: PPP2R2B_CAG.",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:56:45.205331Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to STR: HTT_CAG.",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:56:45.146184Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to STR: FXN_GAA.",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2019-04-26T12:56:45.083212Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to STR: CACNA1A_CAG.",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:56:45.029704Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to STR: ATXN7_CAG.",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:56:44.968798Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to STR: ATXN3_CAG.",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:56:44.905925Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to STR: ATXN2_CAG.",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:56:44.839376Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source South West GLH was added to STR: ATXN10_ATTCT.",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2019-04-26T12:50:22.185883Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to STR: ATXN1_CAG.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:50:22.122098Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to STR: TBP_CAG.",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:50:22.066403Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to STR: PPP2R2B_CAG.",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:50:21.996444Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to STR: HTT_CAG.",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:50:21.933354Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to STR: FXN_GAA.",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2019-04-26T12:50:21.865582Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to STR: CACNA1A_CAG.",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:50:21.807671Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to STR: ATXN7_CAG.",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:50:21.751417Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to STR: ATXN3_CAG.",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:50:21.695311Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to STR: ATXN2_CAG.",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:50:21.634637Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to STR: ATXN10_ATTCT.",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2019-04-26T12:35:53.401648Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to STR: TBP_CAG.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:35:53.351591Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to STR: PPP2R2B_CAG.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:35:53.302513Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to STR: HTT_CAG.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:35:53.252386Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to STR: FXN_GAA.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2019-04-26T12:35:53.198241Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to STR: CACNA1A_CAG.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:35:53.139568Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to STR: ATXN7_CAG.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:35:53.080884Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to STR: ATXN3_CAG.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:35:53.013585Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to STR: ATXN2_CAG.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:32:24.723926Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "STR: TBP_CAG was added\nSTR: TBP_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list\nSTR tags were added to STR: TBP_CAG.\nMode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136\nReview for STR: TBP_CAG was set to GREEN\nAdded comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group \nSources: Expert list",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:30:06.469265Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "STR: PPP2R2B_CAG was added\nSTR: PPP2R2B_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list\nSTR tags were added to STR: PPP2R2B_CAG.\nMode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326\nReview for STR: PPP2R2B_CAG was set to GREEN\nAdded comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group \nSources: Expert list",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:27:30.972015Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "STR: HTT_CAG was added\nSTR: HTT_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list\nSTR tags were added to STR: HTT_CAG.\nMode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for STR: HTT_CAG were set to Huntington disease 143100\nReview for STR: HTT_CAG was set to GREEN\nAdded comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group \nSources: Expert list",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T12:05:39.710965Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "STR: FXN_GAA was added\nSTR: FXN_GAA was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list\nSTR tags were added to STR: FXN_GAA.\nMode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for STR: FXN_GAA were set to Friedreich ataxia 229300\nReview for STR: FXN_GAA was set to GREEN\nAdded comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group \nSources: Expert list",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2019-04-26T12:01:12.019030Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "STR: CACNA1A_CAG was added\nSTR: CACNA1A_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list\nSTR tags were added to STR: CACNA1A_CAG.\nMode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086\nReview for STR: CACNA1A_CAG was set to GREEN\nAdded comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group \nSources: Expert list",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T11:58:47.731932Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "STR: ATXN7_CAG was added\nSTR: ATXN7_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list\nSTR tags were added to STR: ATXN7_CAG.\nMode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for STR: ATXN7_CAG were set to Spinocerebellar ataxia 7 164500\nReview for STR: ATXN7_CAG was set to GREEN\nAdded comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group \nSources: Expert list",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T11:53:51.867300Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.15",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "STR: ATXN3_CAG was added\nSTR: ATXN3_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list\nSTR tags were added to STR: ATXN3_CAG.\nMode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150\nReview for STR: ATXN3_CAG was set to GREEN\nAdded comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group \nSources: Expert list",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T11:45:16.737077Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "STR: ATXN2_CAG was added\nSTR: ATXN2_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list\nSTR tags were added to STR: ATXN2_CAG.\nMode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090\nReview for STR: ATXN2_CAG was set to GREEN\nAdded comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group \nSources: Expert list",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T11:40:06.366629Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to STR: ATXN10_ATTCT.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2019-04-26T11:35:55.177700Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "STR: ATXN10_ATTCT was added\nSTR: ATXN10_ATTCT was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list\nSTR tags were added to STR: ATXN10_ATTCT.\nMode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for STR: ATXN10_ATTCT were set to Spinocerebellar ataxia 10 603516\nReview for STR: ATXN10_ATTCT was set to GREEN\nAdded comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group \nSources: Expert list",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2019-04-26T11:32:52.992168Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: ATXN1_CAG as Green List (high evidence)",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T11:32:52.986586Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: atxn1_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T11:32:40.391970Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "STR: ATXN1_CAG was added\nSTR: ATXN1_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list\nSTR tags were added to STR: ATXN1_CAG.\nMode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400\nReview for STR: ATXN1_CAG was set to GREEN\nAdded comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group \nSources: Expert list",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T11:22:28.204931Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "removed STR:ATN1_CAG from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-04-26T11:07:41.561253Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: ATN1_CAG as Green List (high evidence)",
"entity_name": "ATN1_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T11:07:41.553808Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: atn1_cag has been classified as Green List (High Evidence).",
"entity_name": "ATN1_CAG",
"entity_type": "str"
},
{
"created": "2019-04-26T11:07:29.951264Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "STR: ATN1_CAG was added\nSTR: ATN1_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list\nSTR tags were added to STR: ATN1_CAG.\nMode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090\nPhenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370\nReview for STR: ATN1_CAG was set to GREEN\nAdded comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group. \nSources: Expert list",
"entity_name": "ATN1_CAG",
"entity_type": "str"
},
{
"created": "2019-04-25T13:37:26.960707Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.946933Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.932047Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.915271Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.899334Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.883314Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.868600Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.854283Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TFG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.838326Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.820955Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.805916Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.788774Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.770164Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.755525Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SPART: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.740673Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SLC33A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.722976Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.705971Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SLC1A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.691132Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.675026Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SERAC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.659331Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.643060Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.625621Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: REEP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.606674Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: REEP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.588851Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PSEN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.568063Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.553316Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.536320Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.520992Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: OPA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.507266Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.492949Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.477070Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NIPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.461936Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.447701Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.433568Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.414877Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.400093Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.385821Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.371723Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.357178Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.342485Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.328404Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.312902Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 5129488; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.298596Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.279257Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.266334Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.252886Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.239451Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.226311Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.212543Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.198943Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FA2H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.185877Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ERLIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.172270Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.157957Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.142220Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DDHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.128256Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.114100Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.099736Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CYP7B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.085317Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.071351Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.056778Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CPT1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.039315Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CDK16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.024510Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:26.010067Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:25.995812Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:25.980155Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: BSCL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:25.965307Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: B4GALNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:25.950414Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:25.936074Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ATL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:25.922067Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:25.908253Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:25.893712Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:25.880062Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:25.865031Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:25.848470Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:25.830182Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:25.815992Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:25.801990Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:25.788039Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:25.773249Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:25.758781Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:37:25.742325Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:41.120362Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive, 270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:41.092116Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:41.073019Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant, 603563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:41.054174Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: VPS37A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 53, autosomal recessive, 614898, AR ; Mode of inheritance: ",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:41.034917Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: VAMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600 ; Mode of inheritance: ",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:41.016438Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 79, autosomal recessive, 615491, AR; Mode of inheritance: ",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.997933Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia 4, torsion, autosomal dominant, 128101, Leukodystrophy, hypomyelinating, 612438 AD, ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.979904Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 57, autosomal recessive 615658,AR, Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD ; Mode of inheritance: ",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.960858Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 49, autosomal recessive,615031, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.941335Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 7, autosomal recessive, 607259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.921974Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, autosomal recessive, Mast syndrome, 248900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.902498Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 11, autosomal recessive, 604360, Amyotrophic lateral sclerosis 5, juvenile, 602099, AR, Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.882443Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 4, autosomal dominant, 182601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.862843Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 20, autosomal recessive, Troyer syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.843258Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD ; Mode of inheritance: ",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.823027Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.803421Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.784005Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Allan-Herndon-Dudley syndrome, 300523, XL; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.764256Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739, MEGDEL syndrome, 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome, MEGDHEL syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.744923Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, 270550 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.725316Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 12, autosomal dominant, 604805 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.706459Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 72, autosomal recessive, 615625, ?Spastic paraplegia 72, autosomal dominant, 615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.687076Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 31, autosomal dominant, 610250 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.667559Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.647700Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: POLR3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal Recessive Ataxia, Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.628089Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 39, autosomal recessive, 612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.608587Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 2, X-linked recessive, 312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.592666Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type III, 258501, Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.571319Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 45, autosomal recessive, 613162, AR ; Mode of inheritance: ",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.552490Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.533620Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.514875Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: MTPAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic ataxia 4, autosomal recessive, 613672 ; Mode of inheritance: ",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.496160Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 3, autosomal recessive, 611390; Mode of inheritance: ",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.477020Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.457891Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, Chediak-Higashi syndrome, 214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.438939Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-linked hydrocephalus, 307000, MASA syndrome, 303350, Hereditary spastic paraplegia, 308840; Mode of inheritance: X-LINKED recessive: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.419972Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.401056Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 2, autosomal recessive, 611302; Mode of inheritance: ",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.382358Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 30, autosomal recessive, 610357, Mental retardation, autosomal dominant 9, 614255, AD, Neuropathy, hereditary sensory, type IIC, 614213, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.362149Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.343941Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534, Intellectual disability, developmental delay, progressive spasticity, epilepsy, hypothyroidism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.324845Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 5129488; Phenotypes: Hereditary spastic paraplegia and ataxia; Mode of inheritance: ",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.309622Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.286828Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280, Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.268030Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, psychomotor retardation, seizure, Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.252193Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 2, 608804, AR, Spastic paraplegia 44, autosomal recessive 613206, AR, Lymphatic malformation 3, 613480, AD; Mode of inheritance: ",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.231950Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Spastic paraplegia, progressive spastic paraplegia, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.213665Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.195041Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 77, autosomal recessive, 617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.175770Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 35, autosomal recessive, 611026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.157183Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 18, autosomal recessive, 611225, Spastic paraplegia, autosomal dominant, hereditary spastic paraplegia, neurodegeneration.; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.137535Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: ERLIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.118053Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital anomalies of kidney and urinary tract 1, 610805, AD, Spastic paraplegia 23, 270750, AR; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.101334Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 54, autosomal recessive, 615033 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.084284Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 28, autosomal recessive, 609340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.066917Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Brain stem and spinal cord Hypomyelination, leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.050002Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 5A, autosomal recessive, 270800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.033341Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 56, autosomal recessive, 615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:40.016618Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.998066Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 73, autosomal dominant, 616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.981175Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual disability and spastic paraplegia, x-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.963685Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 76 autosomal recessive, 616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.946596Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 43, autosomal recessive, 615043, Neurodegeneration with brain iron accumulation 4, 614298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.929248Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 55, autosomal recessive, 615035, optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy, Combined oxidative phosphorylation deficiency 7, 613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.911429Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Silver spastic paraplegia syndrome, 270685; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.893851Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 26, autosomal recessive, 609195 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.875959Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia, Kufor-Rakeb syndrome, 606693 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.858147Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, 182600 autosomal dominant, Spastic Paraplegia, Dominant, Neuropathy, hereditary sensory, type ID, 613708 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.840710Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Argininaemia, 207800, Progressive spastic tetraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.823348Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 48, autosomal recessive, 613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.804896Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 52, autosomal recessive, 614067, developmental delay, seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.790399Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive, 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.775428Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive, 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.758799Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive, 614066 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.742713Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 63, 615686, AR, Pontocerebellar hypoplasia, type 9, 615809, AR ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.727764Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paralysis, infantile onset ascending,autosomal recessive, 607225, Primary lateral sclerosis, juvenile, autosomal recessive, 606353, Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.713001Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 9A, autosomal dominant 601162, Spastic paraplegia 9B, autosomal recessive 616586, Cutis laxa, autosomal dominant 3 616603, Cutis laxa, autosomal recessive, type IIIA 219150, ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, SPG9; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.698205Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.683938Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, spastic, 5, autosomal recessive, Spastic ataxia 5, autosomal recessive, Spinocerebellar ataxia 28, autosomal dominant, 610246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.669717Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, 615010 autosomal recessive, Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-04-25T13:22:39.653971Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.5",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, adrenal failure, VLCFA accumulation, spastic paraparesis, Adrenoleukodystrophy, 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:13.380677Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ZFYVE26.\nMode of inheritance for gene ZFYVE26 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:13.299272Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to WDR45B.\nMode of inheritance for gene WDR45B was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:13.221262Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to WASHC5.\nMode of inheritance for gene WASHC5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Spastic paraplegia 8, autosomal dominant, 603563 for gene: WASHC5\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:13.133551Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to VPS37A.\nAdded phenotypes Spastic paraplegia 53, autosomal recessive, 614898, AR for gene: VPS37A\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:13.050163Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to VAMP1.\nAdded phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:12.964337Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to UCHL1.\nAdded phenotypes Spastic paraplegia 79, autosomal recessive, 615491, AR for gene: UCHL1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:12.881874Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to TUBB4A.\nMode of inheritance for gene TUBB4A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Dystonia 4, torsion, autosomal dominant, 128101; ataxia; Leukodystrophy, hypomyelinating, 612438 AD for gene: TUBB4A\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:12.810740Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to TFG.\nAdded phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD; ?Spastic paraplegia 57, autosomal recessive 615658,AR for gene: TFG\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:12.730884Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to TECPR2.\nMode of inheritance for gene TECPR2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 49, autosomal recessive,615031, AR for gene: TECPR2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:12.630165Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SPG7.\nMode of inheritance for gene SPG7 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:12.537978Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SPG21.\nMode of inheritance for gene SPG21 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Mast syndrome, 248900; Spastic Paraplegia, autosomal recessive for gene: SPG21\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:12.440377Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SPG11.\nMode of inheritance for gene SPG11 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR; Amyotrophic lateral sclerosis 5, juvenile, 602099, AR for gene: SPG11\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:12.333662Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SPAST.\nMode of inheritance for gene SPAST was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Spastic paraplegia 4, autosomal dominant, 182601 for gene: SPAST\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:12.238966Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SPART.\nMode of inheritance for gene SPART was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Troyer syndrome; Spastic paraplegia 20, autosomal recessive for gene: SPART\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:12.152559Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SLC33A1.\nAdded phenotypes Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD for gene: SLC33A1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:12.062799Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to SLC25A46.\nMode of inheritance for gene SLC25A46 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:11.970889Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SLC1A4.\nMode of inheritance for gene SLC1A4 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:11.880315Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SLC16A2.\nMode of inheritance for gene SLC16A2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nAdded phenotypes Allan-Herndon-Dudley syndrome, 300523, XL for gene: SLC16A2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:11.805506Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SERAC1.\nMode of inheritance for gene SERAC1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes MEGDHEL syndrome; MEGDEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome for gene: SERAC1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:11.716712Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SACS.\nMode of inheritance for gene SACS was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 for gene: SACS\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:11.623345Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RTN2.\nMode of inheritance for gene RTN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Spastic paraplegia 12, autosomal dominant, 604805 for gene: RTN2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:11.544011Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to REEP2.\nMode of inheritance for gene REEP2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes ?Spastic paraplegia 72, autosomal dominant, 615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: REEP2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:11.460878Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to REEP1.\nMode of inheritance for gene REEP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:11.368019Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to PSEN1.\nMode of inheritance for gene PSEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques for gene: PSEN1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:11.288779Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to POLR3A.\nMode of inheritance for gene POLR3A was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Autosomal Recessive Ataxia for gene: POLR3A",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:11.198711Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to PNPLA6.\nMode of inheritance for gene PNPLA6 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 39, autosomal recessive, 612020 for gene: PNPLA6\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:11.108568Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to PLP1.\nMode of inheritance for gene PLP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nAdded phenotypes Spastic paraplegia 2, X-linked recessive, 312920 for gene: PLP1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:11.002561Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to OPA3.\nMode of inheritance for gene OPA3 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD for gene: OPA3\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:10.919332Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to NT5C2.\nAdded phenotypes Spastic paraplegia 45, autosomal recessive, 613162, AR for gene: NT5C2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:10.838841Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to NKX6-2.\nMode of inheritance for gene NKX6-2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:10.759055Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to NIPA1.\nMode of inheritance for gene NIPA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363 for gene: NIPA1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:10.680708Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to MTPAP.\nAdded phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 for gene: MTPAP\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:10.593892Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to MARS2.\nAdded phenotypes Spastic ataxia 3, autosomal recessive, 611390 for gene: MARS2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:10.503398Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to MAG.\nMode of inheritance for gene MAG was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 75, autosomal recessive, 616680 for gene: MAG\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:10.424811Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to LYST.\nMode of inheritance for gene LYST was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Chediak-Higashi syndrome, 214500; Spastic paraplegia for gene: LYST\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:10.344631Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to L1CAM.\nMode of inheritance for gene L1CAM was changed from to X-LINKED recessive: hemizygous mutation in males, biallelic mutations in females\nAdded phenotypes Hereditary spastic paraplegia, 308840; MASA syndrome, 303350; X-linked hydrocephalus, 307000 for gene: L1CAM\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:10.259045Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to KIF5A.\nMode of inheritance for gene KIF5A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187 for gene: KIF5A\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:10.174370Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to KIF1C.\nAdded phenotypes Spastic ataxia 2, autosomal recessive, 611302 for gene: KIF1C\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:10.087916Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to KIF1A.\nMode of inheritance for gene KIF1A was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213, AR; Mental retardation, autosomal dominant 9, 614255, AD for gene: KIF1A\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:10.002614Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to KIDINS220.\nMode of inheritance for gene KIDINS220 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296 for gene: KIDINS220\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:09.922139Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to KDM5C.\nMode of inheritance for gene KDM5C was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nAdded phenotypes Intellectual disability; developmental delay; epilepsy; progressive spasticity; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; hypothyroidism for gene: KDM5C\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:09.846346Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to KCNA2.\nAdded phenotypes Hereditary spastic paraplegia and ataxia for gene: KCNA2\nPublications for gene KCNA2 were changed from to 5129488\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:09.660586Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to IBA57.\nMode of inheritance for gene IBA57 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:09.572107Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to HSPD1.\nMode of inheritance for gene HSPD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280 for gene: HSPD1\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:09.479149Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to HACE1.\nMode of inheritance for gene HACE1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756; psychomotor retardation; Spastic paraplegia for gene: HACE1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:09.384017Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GJC2.\nAdded phenotypes Spastic paraplegia 44, autosomal recessive 613206, AR; Lymphatic malformation 3, 613480, AD; Leukodystrophy, hypomyelinating, 2, 608804, AR for gene: GJC2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:09.297360Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GCH1.\nMode of inheritance for gene GCH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Dystonia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; progressive spastic paraplegia; Spastic paraplegia for gene: GCH1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:09.219870Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GBA2.\nMode of inheritance for gene GBA2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:09.140705Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to FARS2.\nMode of inheritance for gene FARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 77, autosomal recessive, 617046 for gene: FARS2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:09.061983Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to FA2H.\nMode of inheritance for gene FA2H was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 35, autosomal recessive, 611026 for gene: FA2H\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:08.988576Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ERLIN2.\nMode of inheritance for gene ERLIN2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia, autosomal dominant; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225; hereditary spastic paraplegia for gene: ERLIN2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:08.915962Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ERLIN1.\nMode of inheritance for gene ERLIN1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 for gene: ERLIN1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:08.806260Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DSTYK.\nMode of inheritance for gene DSTYK was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Spastic paraplegia 23, 270750, AR; Congenital anomalies of kidney and urinary tract 1, 610805, AD for gene: DSTYK\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:08.710323Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DDHD2.\nMode of inheritance for gene DDHD2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 54, autosomal recessive, 615033 for gene: DDHD2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:08.626478Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DDHD1.\nMode of inheritance for gene DDHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 28, autosomal recessive, 609340 for gene: DDHD1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:08.535982Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DARS.\nMode of inheritance for gene DARS was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes leg spasticity; Brain stem and spinal cord Hypomyelination; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:08.443381Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CYP7B1.\nMode of inheritance for gene CYP7B1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 5A, autosomal recessive, 270800 for gene: CYP7B1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:08.360988Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CYP2U1.\nMode of inheritance for gene CYP2U1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:08.277873Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CYP27A1.\nMode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness for gene: CYP27A1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:08.193697Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CPT1C.\nMode of inheritance for gene CPT1C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes ?Spastic paraplegia 73, autosomal dominant, 616282 for gene: CPT1C\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:08.109560Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to CDK16.\nMode of inheritance for gene CDK16 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nAdded phenotypes Intellectual disability and spastic paraplegia, x-linked for gene: CDK16",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:08.022932Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CAPN1.\nMode of inheritance for gene CAPN1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 76 autosomal recessive, 616907 for gene: CAPN1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:07.941360Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to C19orf12.\nMode of inheritance for gene C19orf12 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:07.856117Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to C12orf65.\nMode of inheritance for gene C12orf65 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy; Combined oxidative phosphorylation deficiency 7, 613559; Spastic paraplegia 55, autosomal recessive, 615035 for gene: C12orf65\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:07.779146Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to BSCL2.\nMode of inheritance for gene BSCL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Silver spastic paraplegia syndrome, 270685 for gene: BSCL2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:07.690084Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to B4GALNT1.\nMode of inheritance for gene B4GALNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 26, autosomal recessive, 609195 for gene: B4GALNT1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:07.598113Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ATP13A2.\nMode of inheritance for gene ATP13A2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Kufor-Rakeb syndrome, 606693 AR; Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia for gene: ATP13A2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:07.509344Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ATL1.\nMode of inheritance for gene ATL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Spastic paraplegia 3A, 182600 autosomal dominant; Spastic Paraplegia, Dominant; Neuropathy, hereditary sensory, type ID, 613708 for gene: ATL1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:07.422638Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ARG1.\nMode of inheritance for gene ARG1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Progressive spastic tetraplegia; Argininaemia, 207800 for gene: ARG1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:07.339812Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to AP5Z1.\nMode of inheritance for gene AP5Z1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 48, autosomal recessive, 613647 for gene: AP5Z1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:07.244705Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to AP4S1.\nMode of inheritance for gene AP4S1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes seizures; developmental delay; Spastic paraplegia 52, autosomal recessive, 614067 for gene: AP4S1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:07.156404Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to AP4M1.\nMode of inheritance for gene AP4M1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 50, autosomal recessive, 612936 for gene: AP4M1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:07.070203Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to AP4E1.\nMode of inheritance for gene AP4E1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 51, autosomal recessive, 613744 for gene: AP4E1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:06.984257Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to AP4B1.\nMode of inheritance for gene AP4B1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 47, autosomal recessive, 614066 for gene: AP4B1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:06.891271Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to AMPD2.\nMode of inheritance for gene AMPD2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes ?Spastic paraplegia 63, 615686, AR; Pontocerebellar hypoplasia, type 9, 615809, AR for gene: AMPD2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:06.809145Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ALS2.\nMode of inheritance for gene ALS2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic paralysis, infantile onset ascending,autosomal recessive, 607225; Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100 for gene: ALS2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:06.734478Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ALDH18A1.\nMode of inheritance for gene ALDH18A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes Spastic paraplegia 9B, autosomal recessive 616586; SPG9; ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; Cutis laxa, autosomal dominant 3 616603; Spastic paraplegia 9A, autosomal dominant 601162; Cutis laxa, autosomal recessive, type IIIA 219150 for gene: ALDH18A1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:06.646888Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to AIMP1.\nMode of inheritance for gene AIMP1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600 for gene: AIMP1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:06.568780Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to AFG3L2.\nMode of inheritance for gene AFG3L2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive; Spinocerebellar ataxia 28, autosomal dominant, 610246 for gene: AFG3L2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:06.484980Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ADAR.\nMode of inheritance for gene ADAR was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Aicardi-Goutieres syndrome 6, 615010 autosomal recessive; Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400 for gene: ADAR\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-04-25T12:58:06.390958Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ABCD1.\nMode of inheritance for gene ABCD1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nAdded phenotypes spastic paraparesis; Hereditary spastic paraplegia; VLCFA accumulation; adrenal failure; Adrenoleukodystrophy, 300100 for gene: ABCD1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:32.942999Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ZFYVE26.",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:32.857978Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to WDR45B.",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:32.770897Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to WASHC5.",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:32.690886Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to VPS37A.",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:32.604371Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to VAMP1.",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:32.525265Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to UCHL1.",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:32.436671Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TUBB4A.",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:32.339785Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TFG.",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:32.260078Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TECPR2.",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:32.177481Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SPG7.",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:32.094222Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SPG21.",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:32.001999Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SPG11.",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:31.914597Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SPAST.",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:31.825018Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SPART.",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:31.742395Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC33A1.",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:31.653298Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC25A46.",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:31.576722Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC1A4.",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:31.492206Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC16A2.",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:31.402691Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SERAC1.",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:31.325939Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SACS.",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:31.238699Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RTN2.",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:31.147125Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to REEP2.",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:31.057354Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to REEP1.",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:30.975370Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PSEN1.",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:30.881271Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to POLR3A.",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:30.797134Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PNPLA6.",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:30.714333Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PLP1.",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:30.626697Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to OPA3.",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:30.539731Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NT5C2.",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:30.463903Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NKX6-2.",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:30.389026Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NIPA1.",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:30.314550Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MTPAP.",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:30.228719Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MARS2.",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:30.144397Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MAG.",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:30.053268Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to LYST.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:29.961174Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to L1CAM.",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:29.879090Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KIF5A.",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:29.793566Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KIF1C.",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:29.707051Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KIF1A.",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:29.616358Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KIDINS220.",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:29.530819Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KDM5C.",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:29.444249Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KCNA2.",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:29.346921Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to IBA57.",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:29.249416Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to HSPD1.",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:29.149813Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to HACE1.",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:29.061012Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GJC2.",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:28.966092Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GCH1.",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:28.871507Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GBA2.",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:28.781656Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FARS2.",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:28.693070Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FA2H.",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:28.597859Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ERLIN2.",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:28.496567Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ERLIN1.",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:28.391607Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DSTYK.",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:28.301828Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DDHD2.",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:28.213978Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DDHD1.",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:28.121879Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DARS.",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:28.036421Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CYP7B1.",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:27.951706Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CYP2U1.",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:27.872842Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CYP27A1.",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:27.788428Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CPT1C.",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:27.710544Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CDK16.",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:27.617269Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CAPN1.",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:27.521650Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to C19orf12.",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:27.442160Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to C12orf65.",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:27.362205Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to BSCL2.",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:27.278635Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to B4GALNT1.",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:27.186199Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ATP13A2.",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:27.101949Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ATL1.",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:27.013370Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ARG1.",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:26.930788Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AP5Z1.",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:26.848950Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AP4S1.",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:26.777919Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AP4M1.",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:26.703719Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AP4E1.",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:26.634162Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AP4B1.",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:26.554189Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AMPD2.",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:26.479579Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ALS2.",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:26.405210Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ALDH18A1.",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:26.336195Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AIMP1.",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:26.265405Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AFG3L2.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:26.179705Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ADAR.",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:10:26.094808Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ABCD1.",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:33.222262Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ZFYVE26 was added\ngene: ZFYVE26 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: ZFYVE26 was set to ",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:33.178175Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: WDR45B was added\ngene: WDR45B was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: WDR45B was set to ",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:33.133002Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: WASHC5 was added\ngene: WASHC5 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: WASHC5 was set to ",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:33.088006Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: VPS37A was added\ngene: VPS37A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: VPS37A was set to ",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:33.041379Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: VAMP1 was added\ngene: VAMP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: VAMP1 was set to ",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.994248Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: UCHL1 was added\ngene: UCHL1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: UCHL1 was set to ",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.942108Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TUBB4A was added\ngene: TUBB4A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: TUBB4A was set to ",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.893523Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TFG was added\ngene: TFG was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: TFG was set to ",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.837516Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TECPR2 was added\ngene: TECPR2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: TECPR2 was set to ",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.784646Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SPG7 was added\ngene: SPG7 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: SPG7 was set to ",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.730615Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SPG21 was added\ngene: SPG21 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: SPG21 was set to ",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.675179Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SPG11 was added\ngene: SPG11 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: SPG11 was set to ",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.624806Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SPAST was added\ngene: SPAST was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: SPAST was set to ",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.575962Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SPART was added\ngene: SPART was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: SPART was set to ",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.528835Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SLC33A1 was added\ngene: SLC33A1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: SLC33A1 was set to ",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.479649Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SLC25A46 was added\ngene: SLC25A46 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: SLC25A46 was set to ",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.421381Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SLC1A4 was added\ngene: SLC1A4 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: SLC1A4 was set to ",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.363735Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SLC16A2 was added\ngene: SLC16A2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: SLC16A2 was set to ",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.314324Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SERAC1 was added\ngene: SERAC1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: SERAC1 was set to ",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.264941Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SACS was added\ngene: SACS was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: SACS was set to ",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.223976Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RTN2 was added\ngene: RTN2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: RTN2 was set to ",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.181036Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: REEP2 was added\ngene: REEP2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: REEP2 was set to ",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.138030Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: REEP1 was added\ngene: REEP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: REEP1 was set to ",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.095478Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PSEN1 was added\ngene: PSEN1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: PSEN1 was set to ",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:32.053736Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: POLR3A was added\ngene: POLR3A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: POLR3A was set to ",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.998266Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PNPLA6 was added\ngene: PNPLA6 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: PNPLA6 was set to ",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.956171Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PLP1 was added\ngene: PLP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: PLP1 was set to ",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.914948Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: OPA3 was added\ngene: OPA3 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: OPA3 was set to ",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.874419Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: NT5C2 was added\ngene: NT5C2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: NT5C2 was set to ",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.829999Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: NKX6-2 was added\ngene: NKX6-2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: NKX6-2 was set to ",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.787797Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: NIPA1 was added\ngene: NIPA1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: NIPA1 was set to ",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.731134Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MTPAP was added\ngene: MTPAP was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: MTPAP was set to ",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.690336Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MARS2 was added\ngene: MARS2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: MARS2 was set to ",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.635598Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MAG was added\ngene: MAG was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: MAG was set to ",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.593799Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: LYST was added\ngene: LYST was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: LYST was set to ",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.543978Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: L1CAM was added\ngene: L1CAM was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: L1CAM was set to ",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.499066Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: KIF5A was added\ngene: KIF5A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: KIF5A was set to ",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.459879Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: KIF1C was added\ngene: KIF1C was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: KIF1C was set to ",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.416355Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: KIF1A was added\ngene: KIF1A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: KIF1A was set to ",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.373736Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: KIDINS220 was added\ngene: KIDINS220 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: KIDINS220 was set to ",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.328231Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: KDM5C was added\ngene: KDM5C was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: KDM5C was set to ",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.282640Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: KCNA2 was added\ngene: KCNA2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: KCNA2 was set to ",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.233216Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: IBA57 was added\ngene: IBA57 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: IBA57 was set to ",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.187240Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: HSPD1 was added\ngene: HSPD1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: HSPD1 was set to ",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.141255Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: HACE1 was added\ngene: HACE1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: HACE1 was set to ",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.095706Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GJC2 was added\ngene: GJC2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: GJC2 was set to ",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.046658Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GCH1 was added\ngene: GCH1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: GCH1 was set to ",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:31.000036Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GBA2 was added\ngene: GBA2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: GBA2 was set to ",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.957475Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: FARS2 was added\ngene: FARS2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: FARS2 was set to ",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.912993Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: FA2H was added\ngene: FA2H was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: FA2H was set to ",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.873035Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ERLIN2 was added\ngene: ERLIN2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: ERLIN2 was set to ",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.828855Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ERLIN1 was added\ngene: ERLIN1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: ERLIN1 was set to ",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.787298Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DSTYK was added\ngene: DSTYK was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: DSTYK was set to ",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.745271Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DDHD2 was added\ngene: DDHD2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: DDHD2 was set to ",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.702608Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DDHD1 was added\ngene: DDHD1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: DDHD1 was set to ",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.658944Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DARS was added\ngene: DARS was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: DARS was set to ",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.613173Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CYP7B1 was added\ngene: CYP7B1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: CYP7B1 was set to ",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.571778Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CYP2U1 was added\ngene: CYP2U1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: CYP2U1 was set to ",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.518798Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CYP27A1 was added\ngene: CYP27A1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: CYP27A1 was set to ",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.477923Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CPT1C was added\ngene: CPT1C was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: CPT1C was set to ",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.439321Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CDK16 was added\ngene: CDK16 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: CDK16 was set to ",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.391002Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CAPN1 was added\ngene: CAPN1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: CAPN1 was set to ",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.348966Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: C19orf12 was added\ngene: C19orf12 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: C19orf12 was set to ",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.291585Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: C12orf65 was added\ngene: C12orf65 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: C12orf65 was set to ",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.159071Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: BSCL2 was added\ngene: BSCL2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: BSCL2 was set to ",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.113900Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: B4GALNT1 was added\ngene: B4GALNT1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: B4GALNT1 was set to ",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.072565Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ATP13A2 was added\ngene: ATP13A2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: ATP13A2 was set to ",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:30.028340Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ATL1 was added\ngene: ATL1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: ATL1 was set to ",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:29.972575Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ARG1 was added\ngene: ARG1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: ARG1 was set to ",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:29.934711Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: AP5Z1 was added\ngene: AP5Z1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: AP5Z1 was set to ",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:29.897025Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: AP4S1 was added\ngene: AP4S1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: AP4S1 was set to ",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:29.849916Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: AP4M1 was added\ngene: AP4M1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: AP4M1 was set to ",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:29.811140Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: AP4E1 was added\ngene: AP4E1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: AP4E1 was set to ",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:29.768255Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: AP4B1 was added\ngene: AP4B1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: AP4B1 was set to ",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:29.724088Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: AMPD2 was added\ngene: AMPD2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: AMPD2 was set to ",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:29.685270Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ALS2 was added\ngene: ALS2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: ALS2 was set to ",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:29.648261Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ALDH18A1 was added\ngene: ALDH18A1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: ALDH18A1 was set to ",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:29.607451Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: AIMP1 was added\ngene: AIMP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: AIMP1 was set to ",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:29.567541Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: AFG3L2 was added\ngene: AFG3L2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: AFG3L2 was set to ",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:29.524302Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ADAR was added\ngene: ADAR was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: ADAR was set to ",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-04-24T16:09:29.478871Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ABCD1 was added\ngene: ABCD1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH\nMode of inheritance for gene: ABCD1 was set to ",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2018-11-16T14:06:54.589250Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "0.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Added Panel Hereditary spastic paraplegia - adult onset\nSet panel types to: GMS Rare Disease",
"entity_name": null,
"entity_type": null
}
]