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[
{
"created": "2024-05-04T18:30:33.846759Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_promote_green was removed from gene: RETREG1.\nTag Q4_23_NHS_review was removed from gene: RETREG1.",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:30:16.694593Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:29:53.247374Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:29:32.533710Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_promote_green was removed from gene: PPFIBP1.",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:29:17.669709Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_promote_green was removed from gene: HECTD4.",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:29:06.179694Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:28:47.368635Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_promote_green was removed from gene: CLDN11.",
"entity_name": "CLDN11",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:28:32.823347Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.",
"entity_name": "CLDN11",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:28:05.895147Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_23_MOI was removed from gene: UCHL1.",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:27:53.092834Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: The mode of inheritance of this gene has been updated toBOTH monoallelic and biallelic, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:27:29.474589Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:27:08.628550Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_23_promote_green was removed from gene: LETM1.\nTag Q3_23_MOI was removed from gene: LETM1.",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:26:53.084778Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_23_promote_green was removed from gene: AMFR.",
"entity_name": "AMFR",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:26:41.876695Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.",
"entity_name": "AMFR",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:25:42.467827Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: UCHL1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:25:42.442948Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: RETREG1: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:25:42.424161Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: PPFIBP1: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:25:42.406635Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:25:42.385511Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: HECTD4: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:25:42.368622Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: CLDN11: The rating of this gene has been updated togreenand the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.",
"entity_name": "CLDN11",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:25:42.350664Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: AMFR: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.",
"entity_name": "AMFR",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:22:56.620197Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:22:56.327316Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source Expert Review Green was added to RETREG1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:22:55.894970Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source NHS GMS was added to PPFIBP1.\nSource Expert Review Green was added to PPFIBP1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:22:55.570693Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source NHS GMS was added to LETM1.\nSource Expert Review Green was added to LETM1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:22:55.306848Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source Expert Review Green was added to HECTD4.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:22:55.077412Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source NHS GMS was added to CLDN11.\nSource Expert Review Green was added to CLDN11.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CLDN11",
"entity_type": "gene"
},
{
"created": "2024-05-04T18:22:54.879284Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source NHS GMS was added to AMFR.\nSource Expert Review Green was added to AMFR.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "AMFR",
"entity_type": "gene"
},
{
"created": "2024-05-01T12:35:05.457851Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.1",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version 5.0 has been signed off on 2024-05-01",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-05-01T12:34:39.674303Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "5.0",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "promoted panel to version 5.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-23T13:37:44.345164Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene now has a relevant phenotype listed in OMIM (MIM# 620785)",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:37:44.325858Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ACBD6 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-16T22:50:16.961757Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.42",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: As there are sufficient number of cases with biallelic variants and lower limb spasticity, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-16T22:50:16.939020Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.42",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: RTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-16T22:48:42.731575Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.41",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant, 604805 to Spastic paraplegia 12, autosomal dominant, OMIM:604805; distal hereditary motor neuropathy, MONDO:0018894; Lower limb spasticity, HP:0002061",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-16T22:47:55.714676Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.40",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: RTN2 were set to 22232211; 24123792; 28362824",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-16T22:47:10.471361Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.39",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_24_MOI tag was added to gene: RTN2.\nTag Q2_24_NHS_review tag was added to gene: RTN2.",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-16T22:44:11.095113Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.39",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38527963; Phenotypes: distal hereditary motor neuropathy, MONDO:0018894, Lower limb spasticity, HP:0002061; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-03-28T15:50:05.469995Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.39",
"user_name": "Nour Elkhateeb",
"item_type": "entity",
"text": "reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38527963; Phenotypes: Weakness in the distal upper and lower limbs, Lower limb spasticity, Hyperreflexia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-01-30T15:54:05.834092Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.39",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: HMBS as Amber List (moderate evidence)",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-01-30T15:54:05.829470Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.39",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There are three unrelated families reported with spastic paraparesis. Hence, this gene can be promoted to green rating in the next GMS review.",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-01-30T15:54:05.798623Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.39",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: hmbs has been classified as Amber List (Moderate Evidence).",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-01-30T15:53:01.890205Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.38",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_24_promote_green tag was added to gene: HMBS.",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-01-30T15:52:41.797603Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.38",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: HMBS was added\ngene: HMBS was added to Childhood onset hereditary spastic paraplegia. Sources: Literature\nMode of inheritance for gene: HMBS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HMBS were set to 27558376; 34089223\nPhenotypes for gene: HMBS were set to Leukoencephalopathy, HP:0002352; hereditary spastic paraplegia, MONDO:0019064\nReview for gene: HMBS was set to GREEN\nAdded comment: PMID:27558376 reported three siblings with compound heterozygous missense HMBS variants (c.500G>A/ p.Arg167Gln & c.674G>A/ p.Arg225Gln) and a disease characterised by childhood-onset slowly progressive spastic paraparesis, cerebellar ataxia, peripheral neuropathy, and in 2 patients, optic atrophy as well as vertical gaze and convergence palsies and nystagmus. They had a similar MRI pattern characterized by symmetrical signal abnormalities in the periventricular and deep cerebral white matter, thalami, and central part of the pons, and cerebellar atrophy was present in advanced disease stages.\r\n\r\nPMID:34089223 reported two patients from a family with homozygous variant (c.251C>A/ p.Ala84Asp) and another patient from a different family with the same compound heterozygous variants as the siblings reported in PMID:27558376 (c.500G>A/ p.Arg167Gln & c.674G>A/ p.Arg225Gln). All patients presented with slowly progressive spasticity, ataxia, peripheral neuropathy, with or without mild cognitive impairment, and/or ocular disease with onset in childhood or adolescence. Their brain MRIs show mainly confluent signal abnormalities in the periventricular and deep white matter and bilateral thalami. However, the onset of the disease was during childhood in individuals with the homozygous variant (7 years and late childhood), while the onset was at 22 years of age in the third individual with compound heterozygous variants.\r\n\r\nMonoallelic variants in HMBS gene have been associated with acute intermittent porphyria (MIM #176000) in OMIM, but biallelic variants have not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype. \nSources: Literature",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-01-17T17:25:10.693555Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.37",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Intellectual disability - microarray and sequencing v5.405",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-01-17T17:25:10.623542Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.37",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: ACBD6 was added\ngene: ACBD6 was added to Childhood onset hereditary spastic paraplegia. Sources: Expert Review Amber\nQ1_24_promote_green tags were added to gene: ACBD6.\nMode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACBD6 were set to 21937992; 32108178; 36457943; 37951597\nPhenotypes for gene: ACBD6 were set to Neurodevelopmental disorder, MONDO:0700092\nPenetrance for gene: ACBD6 were set to Complete",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-01-09T16:35:03.952326Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.36",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including nystagmus and hypermetropia. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein.\r\n\r\n\r\nThis gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes spasticity as one of the clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype. \r\nSources: Literature; to: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including nystagmus and hypermetropia. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein.\r\n\r\nThis gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes spasticity as one of the clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype. \r\nSources: Literature",
"entity_name": "CLDN11",
"entity_type": "gene"
},
{
"created": "2024-01-09T15:17:27.910713Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.36",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on mode of pathogenicity: PMID: 32989326 reports RHOB p.Ser73Phe as being gain of function.",
"entity_name": "RHOB",
"entity_type": "gene"
},
{
"created": "2024-01-09T15:17:27.868172Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.36",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: RHOB was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "RHOB",
"entity_type": "gene"
},
{
"created": "2024-01-09T15:15:09.346039Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.35",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: RHOB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "RHOB",
"entity_type": "gene"
},
{
"created": "2024-01-09T14:53:40.224071Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.35",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: RHOB as Amber List (moderate evidence)",
"entity_name": "RHOB",
"entity_type": "gene"
},
{
"created": "2024-01-09T14:53:40.213897Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.35",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: rhob has been classified as Amber List (Moderate Evidence).",
"entity_name": "RHOB",
"entity_type": "gene"
},
{
"created": "2024-01-09T14:32:42.166170Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.34",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein.\r\n\r\n\r\nThis gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes spasticity as one of the clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype. \nSources: Literature; to: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including nystagmus and hypermetropia. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein.\r\n\r\n\r\nThis gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes spasticity as one of the clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype. \r\nSources: Literature",
"entity_name": "CLDN11",
"entity_type": "gene"
},
{
"created": "2024-01-09T14:26:49.127613Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.34",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: CLDN11 as Amber List (moderate evidence)",
"entity_name": "CLDN11",
"entity_type": "gene"
},
{
"created": "2024-01-09T14:26:49.120601Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.34",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence available (three unrelated patients) for the promotion of this gene to green rating in the next GMS review.",
"entity_name": "CLDN11",
"entity_type": "gene"
},
{
"created": "2024-01-09T14:26:49.092362Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.34",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: cldn11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLDN11",
"entity_type": "gene"
},
{
"created": "2024-01-09T14:25:41.643238Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.33",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: CLDN11.",
"entity_name": "CLDN11",
"entity_type": "gene"
},
{
"created": "2024-01-09T14:25:16.305980Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.33",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: CLDN11 was added\ngene: CLDN11 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature\nMode of inheritance for gene: CLDN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLDN11 were set to 33313762\nPhenotypes for gene: CLDN11 were set to Leukodystrophy, hypomyelinating, 22, OMIM:619328\nReview for gene: CLDN11 was set to GREEN\nAdded comment: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein.\r\n\r\n\r\nThis gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes spasticity as one of the clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype. \nSources: Literature",
"entity_name": "CLDN11",
"entity_type": "gene"
},
{
"created": "2024-01-09T10:57:36.150748Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.32",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: ALK as Amber List (moderate evidence)",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2024-01-09T10:57:36.140560Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.32",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Zornitza Stark, PMID:32989326 reported a large cohort study of cerebral palsy, where two patients were identified with monoallelic ALK variants and presented with spastic diplegia with mild tremor or spastic-dystonic diplegia. Hence, this gene can be rated amber with current evidence.",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2024-01-09T10:57:36.115809Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.32",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: alk has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2024-01-09T10:55:02.106398Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.31",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: ALK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: spastic diplegia, MONDO:0001167; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:23:06.859734Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.31",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: RETREG1 as Amber List (moderate evidence)",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:23:06.850287Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.31",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence available for the association of RETREG1 gene with spastic paraplegia and hence this gene can be promoted to green rating in the next GMS review.",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:23:06.815814Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.31",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: retreg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:21:56.388077Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.30",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: RETREG1 were changed from to Neuropathy, hereditary sensory and autonomic, type IIB, OMIM:613115",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:21:48.060596Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.29",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: RETREG1 were set to 24327336",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:21:36.694779Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.28",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: RETREG1.\nTag Q4_23_NHS_review tag was added to gene: RETREG1.",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:21:17.410380Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.28",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: PMID:24327336 - Spastic gait was reported in two siblings of Turkish ancestry presenting with hereditary sensory and autonomic neuropathy and identified with biallelic RETREG1 variant (c.826delA).\r\n\r\nPMID:30643655 - Mutilating sensory loss and spastic paraplegia were reported in two affected individuals from two unrelated Saudi families identified with nonsense RETREG1 variant (c.926 C>G/ p.Ser309Ter); to: PMID:24327336 - Spastic gait was reported in two siblings of Turkish ancestry presenting with hereditary sensory and autonomic neuropathy and identified with biallelic RETREG1 variant (c.826delA).\r\n\r\nPMID:30643655 - Mutilating sensory loss and spastic paraplegia were reported in two affected individuals from two unrelated Saudi families identified with nonsense RETREG1 variant (c.926 C>G/ p.Ser309Ter).\r\n\r\nGavin Ryan also mentioned in his review that LoF homozygous variant in this gene was identified via Diagnostic Discovery in 100K and GMS WGS patient with features of Progressive spasticity, facial hypotonia, dysarthria, and fatiguable weakness.",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:20:17.991311Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.28",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: RETREG1: PMID:24327336 - Spastic gait was reported in two siblings of Turkish ancestry presenting with hereditary sensory and autonomic neuropathy and identified with biallelic RETREG1 variant (c.826delA).\r\n\r\nPMID:30643655 - Mutilating sensory loss and spastic paraplegia were reported in two affected individuals from two unrelated Saudi families identified with nonsense RETREG1 variant (c.926 C>G/ p.Ser309Ter)",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:12:32.858645Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.28",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24327336, 30643655; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, OMIM:613115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2023-12-19T13:04:37.463258Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.28",
"user_name": "Gavin Ryan",
"item_type": "entity",
"text": "gene: RETREG1 was added\ngene: RETREG1 was added to Childhood onset hereditary spastic paraplegia. Sources: NHS GMS\nMode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RETREG1 were set to 24327336\nPenetrance for gene: RETREG1 were set to unknown\nReview for gene: RETREG1 was set to GREEN\nAdded comment: Aydinlar et al identified individuals with hereditary neuropathy caused by variant in this gene who also had spasticity. Further, LoF homozygous variant in this gene identified via Diagnostic Discovery in 100K and GMS WGS patient with features of Progressive spasticity, facial hypotonia, dysarthria, and fatiguable weakness. \nSources: NHS GMS",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2023-10-17T14:11:13.024981Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.26",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: SPG7",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-10-17T14:10:21.700558Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.26",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_23_MOI was removed from gene: SPG7.",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-10-17T09:59:22.105541Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: HECTD4.",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-10-17T09:59:11.985334Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: HECTD4: The OMIM entry for this gene is OMIM:620209, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-10-16T20:29:10.989265Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: CCDC82.",
"entity_name": "CCDC82",
"entity_type": "gene"
},
{
"created": "2023-10-16T20:28:59.122646Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: CCDC82: The OMIM entry for this gene is OMIM:619870, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.",
"entity_name": "CCDC82",
"entity_type": "gene"
},
{
"created": "2023-10-16T18:14:52.937844Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: SPATA5L1",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2023-10-14T07:57:46.382090Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: SPTSSA as Amber List (moderate evidence)",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-10-14T07:57:46.374297Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: sptssa has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-10-14T07:57:35.095049Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: There are two unrelated cases (with the same variant) in support of the association of this gene with the autosomal dominant spastic paraplegia. Although there is only one case with the autosomal recessive condition, homozygous knockout mouse model is available in support of the association. Functional evidence is also available for both homozygous and heterozygous variants. \r\n\r\nHence, the rating should be amber and the MOI should be set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-10-14T07:57:35.073861Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTSSA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-10-14T07:52:23.957469Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.24",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: SPTSSA: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-10-14T07:51:52.965438Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.24",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Two unrelated patients were identified with the same de novo missense heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous truncation variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact.\r\n\r\nFunctional studies in fibroblasts showed dysregulation of the sphingolipid (SL) synthesis pathway, showing that both variants impair ORMDL regulation of the pathway leading to various levels of increased SL. Over expression of human SPTSSA was shown to lead to motor development in Drosophila, rescued by expression of ORMDL for WT SPTSSA but not mutant SPTSSA. The heterozygous p.Thr51Ile variant was shown to impact regulation more than the homozygous truncation variant, while the truncated region was previously shown to be important for ORMDL regulation.\r\n\r\nMice model with a homozygous knockout of the functional equivalent sptssb had early onset ataxia and died prematurely, with evidence of axonic degeneration.\r\nSources: Literature; to: Two unrelated patients were identified with the same de novo missense heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous truncation variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact (PMID:36718090).\r\n\r\nFunctional studies in fibroblasts showed dysregulation of the sphingolipid (SL) synthesis pathway, showing that both variants impair ORMDL regulation of the pathway leading to various levels of increased SL. Over expression of human SPTSSA was shown to lead to motor development in Drosophila, rescued by expression of ORMDL for WT SPTSSA but not mutant SPTSSA. The heterozygous p.Thr51Ile variant was shown to impact regulation more than the homozygous truncation variant, while the truncated region was previously shown to be important for ORMDL regulation (PMID:36718090).\r\n\r\nMice model with homozygous ssSPTa null mutants are embryonic lethal (PMID:33662400). However, homozygous knockout of the functional equivalent ssSPTb had early onset ataxia and died prematurely, with evidence of axonic degeneration (PMID:26438849).\r\n\r\nThis gene has already been associated with relevant phenotypes in OMIM (MIMs #620416 & #620417).\r\nSources: Literature",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-10-14T07:46:58.430917Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.24",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: SPTSSA: Changed publications to: 26438849, 33662400, 36718090",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-10-14T07:46:27.237250Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.24",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Two unrelated patients were identified with the same heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact.\r\nSources: Literature; to: Two unrelated patients were identified with the same de novo missense heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous truncation variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact.\r\n\r\nFunctional studies in fibroblasts showed dysregulation of the sphingolipid (SL) synthesis pathway, showing that both variants impair ORMDL regulation of the pathway leading to various levels of increased SL. Over expression of human SPTSSA was shown to lead to motor development in Drosophila, rescued by expression of ORMDL for WT SPTSSA but not mutant SPTSSA. The heterozygous p.Thr51Ile variant was shown to impact regulation more than the homozygous truncation variant, while the truncated region was previously shown to be important for ORMDL regulation.\r\n\r\nMice model with a homozygous knockout of the functional equivalent sptssb had early onset ataxia and died prematurely, with evidence of axonic degeneration.\r\nSources: Literature",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-10-13T22:16:08.741949Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.24",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Sources: Literature; to: Two unrelated patients were identified with the same heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact.\r\nSources: Literature",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-10-13T18:27:56.177948Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.24",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: SPTSSA was added\ngene: SPTSSA was added to Childhood onset hereditary spastic paraplegia. Sources: Literature\nMode of inheritance for gene: SPTSSA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPTSSA were set to 36718090\nPhenotypes for gene: SPTSSA were set to Spastic paraplegia 90A, autosomal dominant, OMIM:620416; ?Spastic paraplegia 90B, autosomal recessive, OMIM:620417\nReview for gene: SPTSSA was set to AMBER\nAdded comment: Sources: Literature",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-10-11T11:26:35.267019Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_23_promote_green was removed from gene: PPFIBP1.\nTag Q4_23_promote_green tag was added to gene: PPFIBP1.",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2023-10-11T11:25:50.789347Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Early onset or syndromic epilepsy v4.107",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2023-10-11T11:25:50.737610Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: PPFIBP1 was added\ngene: PPFIBP1 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature,Expert Review Amber\nQ2_23_promote_green tags were added to gene: PPFIBP1.\nMode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPFIBP1 were set to 35830857; 30214071\nPhenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024\nPenetrance for gene: PPFIBP1 were set to Complete",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2023-10-11T10:19:37.450595Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-10-11T10:18:46.781699Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: HECTD4 as Amber List (moderate evidence)",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-10-11T10:18:46.770956Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: hectd4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-10-11T10:18:40.262734Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: HECTD4.",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-10-11T10:18:11.927645Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Intellectual disability - microarray and sequencing v5.292",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-10-11T10:18:11.875280Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: HECTD4 was added\ngene: HECTD4 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature,NHS GMS,Expert Review Green\nMode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HECTD4 were set to 36401616\nPhenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:20:28.703318Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q1_23_demote_red was removed from gene: WASHC5.\nTag Q1_23_expert_review was removed from gene: WASHC5.",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:20:14.625849Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q1_23_promote_green was removed from gene: TECPR2.",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:19:53.414064Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:19:33.161684Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"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": "2023-10-10T17:19:20.493098Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toMONOALLELIC, autosomal or pseudoautosomal, NOT imprintedfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:18:59.172489Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q1_23_promote_green was removed from gene: RNF170.",
"entity_name": "RNF170",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:18:42.851900Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.",
"entity_name": "RNF170",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:18:15.569129Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q1_23_promote_green was removed from gene: RAB3GAP2.",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:18:03.581053Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:17:44.965619Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q1_23_promote_green was removed from gene: MAG.",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:17:28.024411Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosoma lfollowing NHS Genomic Medicine Service approval.",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:17:03.578211Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q4_22_promote_green was removed from gene: DDX3X.",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:16:43.686937Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toX-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:16:06.808970Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q4_22_promote_green was removed from gene: CTNNB1.",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:15:48.264284Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toMONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:14:09.073328Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:14:09.030745Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:14:08.992393Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:14:08.960555Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: SPG7: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:14:08.945515Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNF170",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:14:08.927264Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:14:08.913752Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:14:08.899413Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: ; Publications: ; 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)",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:14:08.885839Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:13:37.678949Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.19",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Red was added to WASHC5.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:13:37.405364Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.19",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TECPR2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:13:37.164536Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.19",
"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": "2023-10-10T17:13:36.931744Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.19",
"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": "2023-10-10T17:13:36.694461Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.19",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to RNF170.\nSource NHS GMS was added to RNF170.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "RNF170",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:13:36.442146Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.19",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to RAB3GAP2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:13:36.269528Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.19",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to MAG.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:13:36.073920Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.19",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to DDX3X.\nSource NHS GMS was added to DDX3X.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2023-10-10T17:13:35.880388Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.19",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to CTNNB1.\nSource NHS GMS was added to CTNNB1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2023-10-02T10:08:36.460808Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: SPATA5L1.",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2023-08-22T10:05:16.965913Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.18",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2023-08-22T10:05:09.087669Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.18",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2023-08-17T09:32:34.381578Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Although there are three unrelated cases reported with biallelic SPTAN1 variants and hereditary spastic paraplegia, the age of onset of these cases were 33, 15 and 12 years (PMID:31515523; PMID:34526651). As the number of childhood-onset biallelic cases are not sufficient for green rating, the MOI should remain as \"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\".",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-08-17T09:32:34.357166Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-08-15T15:53:16.206246Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.17",
"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": "2023-08-08T10:36:13.887089Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.16",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_23_NHS_review was removed from gene: LETM1.",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2023-08-08T10:36:01.095063Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.16",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder. \r\nPMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).; to: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder. \r\nPMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%), spasticity 8/15 (53%) (PMID: 36055214, figure 1c).",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2023-08-08T10:22:26.582464Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.16",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Entity copied from Possible mitochondrial disorder - nuclear genes v3.42",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2023-08-08T10:22:26.545457Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.16",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: LETM1 was added\ngene: LETM1 was added to Childhood onset hereditary spastic paraplegia. Sources: Expert Review,Expert Review Amber\nQ3_23_promote_green, Q3_23_NHS_review, Q3_23_MOI tags were added to gene: LETM1.\nMode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LETM1 were set to 36055214; 33815143\nPhenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2023-07-28T11:08:32.616940Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.15",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_23_MOI tag was added to gene: UCHL1.",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-07-28T11:07:55.208256Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.15",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359680, 28007905, 35986737; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:28:25.841234Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.15",
"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": "2023-07-28T10:24:08.650226Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.14",
"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; Spastic paraplegia 79A, autosomal dominant, OMIM:620221",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:24:03.553910Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.13",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: PMID:37119330 - 20 individuals from 8 unrelated consanguineous families of various origins were identified with autosomal recessive variants in AMFR gene. All patients had early disease onset (<3 years), including motor delay, lower limb hyperreflexia and spastic paraplegia that match the typical phenotypes of hereditary spastic paraplegia. \nSources: Literature; to: PMID:37119330 - 20 individuals from 8 unrelated consanguineous families of various origins were identified with autosomal recessive variants in AMFR gene. All patients had early disease onset (<3 years), including motor delay, lower limb hyperreflexia and spastic paraplegia that match the typical phenotypes of hereditary spastic paraplegia. \r\n\r\nThis gene has been associated with relevant phenotypes in OMIM (MIM #620379), but not in Gene2Phenotype.\r\nSources: Literature",
"entity_name": "AMFR",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:23:11.352272Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.13",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: AMFR as Amber List (moderate evidence)",
"entity_name": "AMFR",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:23:11.349397Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.13",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating at the next GMS review.",
"entity_name": "AMFR",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:23:11.334736Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.13",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: amfr has been classified as Amber List (Moderate Evidence).",
"entity_name": "AMFR",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:22:23.067946Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.12",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_23_promote_green tag was added to gene: AMFR.",
"entity_name": "AMFR",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:22:09.632802Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.12",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: AMFR was added\ngene: AMFR was added to Childhood onset hereditary spastic paraplegia. Sources: Literature\nMode of inheritance for gene: AMFR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMFR were set to 37119330\nPhenotypes for gene: AMFR were set to Spastic paraplegia 89, autosomal recessive, OMIM:620379\nReview for gene: AMFR was set to GREEN\nAdded comment: PMID:37119330 - 20 individuals from 8 unrelated consanguineous families of various origins were identified with autosomal recessive variants in AMFR gene. All patients had early disease onset (<3 years), including motor delay, lower limb hyperreflexia and spastic paraplegia that match the typical phenotypes of hereditary spastic paraplegia. \nSources: Literature",
"entity_name": "AMFR",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:10:22.780632Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: UCHL1 were set to 23359680; 28007905; 29735986; 32656641; 11555633; 33159930",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-06-06T14:26:55.481858Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: CCDC82 as Amber List (moderate evidence)",
"entity_name": "CCDC82",
"entity_type": "gene"
},
{
"created": "2023-06-06T14:26:55.478739Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There are two unrelated cases and hence this gene should be rated AMBER.",
"entity_name": "CCDC82",
"entity_type": "gene"
},
{
"created": "2023-06-06T14:26:55.452150Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: ccdc82 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC82",
"entity_type": "gene"
},
{
"created": "2023-06-06T14:26:17.402361Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.9",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: CCDC82 was added\ngene: CCDC82 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature\nMode of inheritance for gene: CCDC82 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC82 were set to 35118659; 35373332\nPhenotypes for gene: CCDC82 were set to neurodevelopmental disorder, MONDO:0700092; hereditary spastic paraplegia, MONDO:0019064\nReview for gene: CCDC82 was set to AMBER\nAdded comment: PMID: 35118659 reported two siblings presenting with global global developmental delay (last evaluation at 4 years and 9 months) and spasticity. They also had a common history of infantile spasms with the elder developing GTC convulsions with spontaneous resolution and both presented with microcephaly (<-2 and <-3SD). They harboured homozygous variant c.535C>T ( p.Arg179Ter).\r\n\r\nPMID: 35373332 reported a 21 years old male who presented with features included short stature, intellectual disability, spastic paraparesis (at the age of 3 years). Gelastic seizures were suspected but not confirmed (repeated normal EEGs). This patient harboured a homozygous frameshift CCDC82 variant c.183del (p.Phe61Leufs*27) and the parents were heterozygous carriers. There was another homozygous variant, albeit classified as VUS and not thought to fit the clinical presentation. \nSources: Literature",
"entity_name": "CCDC82",
"entity_type": "gene"
},
{
"created": "2023-05-10T14:34:44.665454Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: CHMP3 as Red List (low evidence)",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2023-05-10T14:34:44.657046Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating Red for now as only a single case has been reported to date.",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2023-05-10T14:34:44.607425Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: chmp3 has been classified as Red List (Low Evidence).",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2023-05-10T14:33:34.709084Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: CHMP3 was added\ngene: CHMP3 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature\nMode of inheritance for gene: CHMP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHMP3 were set to 35710109\nPhenotypes for gene: CHMP3 were set to Complex spastic quadriplegia associated with developmental delay and seizures\nAdded comment: Cohen-Barak et al., 2022 (PMID: 35710109) reported on a consanguineous family, in which five individuals presented with intellectual and progressive motor disabilities, seizures and spastic quadriplegia, associated with a homozygous variant in CHMP3. Patient derived fibroblasts expressed ultrastructural and molecular features of impaired autophagy, partially rescued by ectopic expression of WT-CHMP3. \nSources: Literature",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2023-04-18T10:25:18.614101Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ATAD3A were set to 28158749",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2023-04-18T10:23:51.331426Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ATAD3A as Amber List (moderate evidence)",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2023-04-18T10:23:51.323987Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: atad3a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2023-04-18T10:23:40.902517Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: ATAD3A: Added comment: PMID: 34387651 - one patient with spastic diplegic gait that appeared stable since early infancy, harbouring the same p.(Gly355Asp) variant in ATAD3A as seen in the patient previously reported by Cooper et al. 2017 (PMID: 28158749). This is the second case where the early phenotype was notable for spasticity in early childhood and therefore upgrading the rating from Red to Amber.; Changed publications to: 28158749, 27640307, 33845882, 34387651; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2023-04-11T12:10:40.031626Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: SPG7: Rating: ; Mode of pathogenicity: None; Publications: ; 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": "2023-04-11T12:08:27.505292Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.4",
"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": "2023-04-11T12:07:59.009873Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: SPG7 were set to 9635427",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-04-11T09:35:54.029252Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.3",
"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": "2023-03-27T15:25:16.191268Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: WASHC5 were set to 17160902",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2023-03-27T15:24:48.445333Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_23_expert_review tag was added to gene: WASHC5.",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2023-03-27T15:22:30.780339Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_23_demote_red tag was added to gene: WASHC5.",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2023-03-27T15:22:07.643469Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: None; Publications: 17160902, 23455931, 26572744, 31814071, 33662919; Phenotypes: Spastic paraplegia 8, autosomal dominant, OMIM:603563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:48:43.897027Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.1",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version 4.0 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T14:47:02.262619Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.0",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "promoted panel to version 4.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T13:13:46.966140Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "3.28",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "List of related panels changed from Childhood onset hereditary spastic paraplegia; Hereditary spastic paraplegia - childhood onset; R61 to Hereditary spastic paraplegia - childhood onset; R61",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T12:12:09.776699Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "3.27",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel name changed from Hereditary spastic paraplegia - childhood onset to Childhood onset hereditary spastic paraplegia\nList of related panels changed from Childhood onset hereditary spastic paraplegia; R61 to Childhood onset hereditary spastic paraplegia; Hereditary spastic paraplegia - childhood onset; R61",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-15T07:11:41.924969Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_23_promote_green tag was added to gene: RNF170.",
"entity_name": "RNF170",
"entity_type": "gene"
},
{
"created": "2023-03-15T07:11:05.275246Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: RNF170 as Amber List (moderate evidence)",
"entity_name": "RNF170",
"entity_type": "gene"
},
{
"created": "2023-03-15T07:11:05.271842Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence (6 unrelated cases) for this gene to be promoted to GREEN at the next major review.",
"entity_name": "RNF170",
"entity_type": "gene"
},
{
"created": "2023-03-15T07:11:05.233809Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: rnf170 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNF170",
"entity_type": "gene"
},
{
"created": "2023-03-15T07:06:57.428479Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: RNF170 were changed from Hereditary spastic paraplegia to Spastic paraplegia 85, autosomal recessive, OMIM:619686",
"entity_name": "RNF170",
"entity_type": "gene"
},
{
"created": "2023-03-15T07:06:30.786518Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.24",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: RNF170 were set to 31636353",
"entity_name": "RNF170",
"entity_type": "gene"
},
{
"created": "2023-03-15T07:05:41.931789Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.23",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: PMID:31636353 reported 9 patients from 4 unrelated families with childhood-onset spastic paraplegia. The age of onset of the condition ranged from 2 to 5 years of age and they were all identified with a homozygous variant in RNF170 gene. It is a neurological disorder characterised by the onset of motor symptoms in the first few years of life. Affected individuals have spasticity and hyperreflexia of the lower limbs resulting in gait abnormalities, with oilder patients also having upper limb involvement and axonal polyneuropathy.\r\n\r\nPMID:33165979 reported four members from a single family carrying a homozygous stop gain variant in RNF170 and diagnosed with hereditary spastic paraplegia.\r\n\r\nPMID:35041108 reported a 7 year old girl with novel homozygous missense variant in RNF170 and she presented with progressive difficulty in walking that started when she was 3 years old, lower limb predominant spastic paraparesis, and mild upper limbs involvement with slight tremor in the hands, all occurring in the absence of neurodevelopmental or growth delays.; to: PMID:31636353 reported 9 patients from 4 unrelated families with childhood-onset spastic paraplegia. The age of onset of the condition ranged from 2 to 5 years of age and they were all identified with a homozygous variant in RNF170 gene. It is a neurological disorder characterised by the onset of motor symptoms in the first few years of life. Affected individuals have spasticity and hyperreflexia of the lower limbs resulting in gait abnormalities, with oilder patients also having upper limb involvement and axonal polyneuropathy.\r\n\r\nPMID:33165979 reported four members from a single family carrying a homozygous stop gain variant in RNF170 and diagnosed with hereditary spastic paraplegia.\r\n\r\nPMID:35041108 reported a 7 year old girl with novel homozygous missense variant in RNF170 and she presented with progressive difficulty in walking that started when she was 3 years old, lower limb predominant spastic paraparesis, and mild upper limbs involvement with slight tremor in the hands, all occurring in the absence of neurodevelopmental or growth delays.\r\n\r\nThis gene has been associated with relevant phenotypes in OMIM (MIM #619686), but not yet in Gene2Phenotype.",
"entity_name": "RNF170",
"entity_type": "gene"
},
{
"created": "2023-03-15T07:03:16.152052Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.23",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: None; Publications: 31636353, 33165979, 35041108; Phenotypes: Spastic paraplegia 85, autosomal recessive, OMIM:619686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNF170",
"entity_type": "gene"
},
{
"created": "2023-03-15T06:16:27.057985Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.23",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: RAB3GAP2 were set to 24482476",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T06:13:51.113994Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.22",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: PMID:32740904 reported 9 cases identified with biallelic variants in RAB3GAP2 gene. Seven of them were diagnosed with Martsolf syndrome 1 (MIM #212720) and the remaining two with Warburg micro syndrome 2 (MIM #614225). All of them presented with spasticity (either paraparesis or quadriparesis) as one of the clinical manifestations. The age of patients ranged from 1 year 4 months to 14 years old, with six ion them under 10 years old.\r\n\r\nThis gene has been associated with phenotypes in both OMIM and Gene2Phenotype.; to: PMID:32740904 reported 9 cases identified with biallelic variants in RAB3GAP2 gene. Seven of them were diagnosed with Martsolf syndrome 1 (MIM #212720) and the remaining two with Warburg micro syndrome 2 (MIM #614225). All of them presented with spasticity (either paraparesis or quadriparesis) as one of the clinical manifestations. The age of patients ranged from 1 year 4 months to 14 years old, with six of them under 10 years old.\r\n\r\nThis gene has been associated with phenotypes in both OMIM and Gene2Phenotype.",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T06:06:56.981797Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.22",
"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": "2023-03-15T06:06:34.999160Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.22",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: RAB3GAP2 as Amber List (moderate evidence)",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T06:06:34.995064Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.22",
"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": "2023-03-15T06:06:34.969687Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.22",
"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": "2023-03-15T06:05:19.690157Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.21",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome 1, OMIM:212720 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T06:03:34.036375Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.20",
"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": "2023-03-14T14:47:19.911966Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.20",
"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": "2023-03-07T17:47:19.502509Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.19",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: ATL1 were set to 11685207; 15517445",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2023-02-27T16:04:48.438557Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q1_23_promote_green tag was added to gene: MAG.",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2023-02-27T16:01:27.944800Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: MAG were set to 26179919; 24482476",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2023-02-27T16:01:09.472158Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: MAG as Amber List (moderate evidence)",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2023-02-27T16:01:09.467576Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.17",
"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.\r\n\r\nAt least 12 individuals from 8 families have been identified with biallelic variants in this gene. Clinical features are characterised by spasticity (9/13), neuropathy (8/13), optic atrophy (7/13), variable cognitive deficits (7/13), and cerebellar signs (10/13) including ataxia in some (8/13) although 3/10 showed normal brain MRI results.",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2023-02-27T16:01:09.437173Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: mag has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2023-02-27T15:21:15.568198Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.16",
"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": "2023-02-27T15:13:22.797025Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: KLC2 as Red List (low evidence)",
"entity_name": "KLC2",
"entity_type": "gene"
},
{
"created": "2023-02-27T15:13:22.793655Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating Red as this would not currently be picked up by the pipeline but will make a note in our internal log of additional entities to investigate methods of incorporating this variants in the future.",
"entity_name": "KLC2",
"entity_type": "gene"
},
{
"created": "2023-02-27T15:13:22.762841Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: klc2 has been classified as Red List (Low Evidence).",
"entity_name": "KLC2",
"entity_type": "gene"
},
{
"created": "2023-02-27T15:08:48.547640Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KLC2 were changed from Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541 to Spastic paraplegia, optic atrophy, and neuropathy, OMIM:609541",
"entity_name": "KLC2",
"entity_type": "gene"
},
{
"created": "2023-02-27T15:08:39.424734Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: KLC2 were set to ",
"entity_name": "KLC2",
"entity_type": "gene"
},
{
"created": "2023-02-27T15:05:02.823855Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag currently-ngs-unreportable tag was added to gene: KLC2.",
"entity_name": "KLC2",
"entity_type": "gene"
},
{
"created": "2023-02-08T13:30:18.370629Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.12",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: TMEM63C.",
"entity_name": "TMEM63C",
"entity_type": "gene"
},
{
"created": "2023-02-08T13:25:14.644522Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.12",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: SPATA5L1.",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2023-02-07T14:45:18.387985Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.12",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: BLOC1S1.",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2023-02-06T15:46:57.316233Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.12",
"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": "2023-02-06T15:46:45.816986Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.12",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: SPTAN1 as Amber List (moderate evidence)",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-02-06T15:46:45.810257Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.12",
"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": "2023-02-06T15:46:31.288298Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.11",
"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 (>3 cases identified with different variants) reported with childhood/ early-onset spastic paraplegia.\r\n\r\nTwo of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia whose age of onset were three years and seven years, while it has also been reported in one year old male from PMID:22656320. 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. \nSources: Literature; to: Comment on classification: This gene should be rated Green as there are several unrelated cases (>3 cases identified with different variants) reported with childhood/ early-onset spastic paraplegia.\r\n\r\nTwo of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia whose age of onset were three years and seven years, while it has also been reported in one year old male from PMID:22656320. 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 (2 cases with congenital, 11 with childhood and 2 with adolescence-onset). \r\nSources: Literature",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-02-06T15:42:05.331775Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.11",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: SPTAN1 was added\ngene: SPTAN1 was added to Hereditary spastic paraplegia - childhood 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 20493457; 22656320; 35150594\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 (>3 cases identified with different variants) reported with childhood/ early-onset spastic paraplegia.\r\n\r\nTwo of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia whose age of onset were three years and seven years, while it has also been reported in one year old male from PMID:22656320. 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. \nSources: Literature",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:16:31.923442Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed Region: ISCA-46304-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ISCA-46304-Gain",
"entity_type": "region"
},
{
"created": "2023-02-02T12:29:21.146359Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Region: ISCA-46304-Gain was added\nRegion: ISCA-46304-Gain was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,ClinGen\nMode of inheritance for Region: ISCA-46304-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for Region: ISCA-46304-Gain were set to 22679399; 29141583; 29618507; 32043567",
"entity_name": "ISCA-46304-Gain",
"entity_type": "region"
},
{
"created": "2023-02-01T15:03:29.885522Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Tag Q1_22_phenotype was removed from gene: PI4KA.\nTag Q1_22_expert_review was removed from gene: PI4KA.\nTag Q1_22_NHS_review was removed from gene: PI4KA.",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:02:52.651999Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains XX.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:02:21.714133Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Tag Q3_21_MOI was removed from gene: TFG.",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:02:00.756951Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Tag Q1_22_rating was removed from gene: SPATA5L1.",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:01:36.994995Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Tag Q2_22_rating was removed from gene: HSPD1.",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:01:14.869533Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Tag Q2_22_MOI was removed from gene: C19orf12.",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:48.607526Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Tag Q3_21_MOI was removed from gene: AIMP1.",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:15.768329Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Tag Q1_22_rating was removed from gene: ACER3.",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:59:36.605718Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: ABHD16A.",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:59:13.059464Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: TMEM63C.",
"entity_name": "TMEM63C",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:58:37.481164Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: TAF8.",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:58:12.964028Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: NSRP1.",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:57:49.402503Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: NDUFA12.",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:57:20.795337Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: KPNA3.",
"entity_name": "KPNA3",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:55:33.966428Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:55:33.952291Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "commented on gene: TFG",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:55:33.937471Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:55:33.923812Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:55:33.909031Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "commented on gene: C19orf12",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:55:33.894877Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "commented on gene: AIMP1",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:55:33.879657Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "edited their review of gene: ACER3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:55:33.869535Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "commented on gene: ACER3",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:55:33.856031Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:55:33.841319Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "commented on gene: TMEM63C: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.",
"entity_name": "TMEM63C",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:55:33.831153Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "reviewed gene: TMEM63C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TMEM63C",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:55:33.816411Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "commented on gene: TAF8: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:55:33.806558Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "reviewed gene: TAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:55:33.792036Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "commented on gene: NSRP1: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:55:33.781837Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:55:33.766993Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "commented on gene: NDUFA12: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:55:33.755894Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:55:33.740468Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.9",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "commented on gene: KPNA3",
"entity_name": "KPNA3",
"entity_type": "gene"
},
{
"created": "2023-02-01T13:41:05.030268Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.8",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Source Expert Review Green was added to TMEM63C.\nSource NHS GMS was added to TMEM63C.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TMEM63C",
"entity_type": "gene"
},
{
"created": "2023-02-01T13:41:04.907245Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.8",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Mode of inheritance for gene TFG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2023-02-01T13:41:04.785616Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.8",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Source Expert Review Green was added to TAF8.\nSource NHS GMS was added to TAF8.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2023-02-01T13:41:04.653894Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.8",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Source Expert Review Green was added to SPATA5L1.\nSource NHS GMS was added to SPATA5L1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2023-02-01T13:41:04.531890Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.8",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Source Expert Review Green was added to NSRP1.\nSource NHS GMS was added to NSRP1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2023-02-01T13:41:04.395730Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.8",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Source Expert Review Green was added to NDUFA12.\nSource NHS GMS was added to NDUFA12.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2023-02-01T13:41:04.257733Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.8",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Source Expert Review Green was added to KPNA3.\nSource NHS GMS was added to KPNA3.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "KPNA3",
"entity_type": "gene"
},
{
"created": "2023-02-01T13:41:04.033510Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.8",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Source Expert Review Green was added to HSPD1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2023-02-01T13:41:03.895305Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.8",
"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": "2023-02-01T13:41:03.779655Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.8",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Mode of inheritance for gene AIMP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2023-02-01T13:41:03.539743Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.8",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Source Expert Review Green was added to ACER3.\nSource NHS GMS was added to ACER3.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2023-02-01T13:41:03.300680Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.8",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Source Expert Review Green was added to ABHD16A.\nSource NHS GMS was added to ABHD16A.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2023-01-20T11:25:04.455620Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.7",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Phenotypes for gene: TECPR2 were changed from Spastic paraplegia 49, autosomal recessive, 615031 to Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2023-01-20T11:24:53.306356Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.6",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Publications for gene: TECPR2 were set to 23176824; 26542466",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2023-01-20T11:24:25.602493Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.5",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Tag Q1_23_promote_green tag was added to gene: TECPR2.",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2023-01-20T11:24:07.554407Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.5",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "changed review comment from: Neuser et al. (2021) report 17 unrelated cases with a biallelic pathogenic variants in TECPR2. The study also includes 11 previously reported patients. The core manifestations in these individuals are global developmental delay/intellectual disability, muscular hypotonia, ataxia, hyporeflexia, respiratory infections, and central/nocturnal hypopnea. Peripheral neuropathy was present in two-thirds of all individuals. The majority of the pathogenic variants identified are truncating variants; however, missense variants were also found, predominantly located in the N-terminal and C-terminal regions. The TECPR2 gene is implicated in the autophagy pathway, which is critical to the development and function of the central nervous system. Loss?of?function variants in several genes of the autophagy pathway lead to both neurodevelopmental and neurodegenerative diseases. In summary, this gene should be promoted to GREEN in this panel, with autosomal recessive mode of inheritance.; to: Neuser et al. (2021) report 17 unrelated cases with a biallelic pathogenic variants in TECPR2. The study also includes 11 previously reported patients. The core manifestations in these individuals are global developmental delay/intellectual disability, muscular hypotonia, ataxia, hyporeflexia, respiratory infections, and central/nocturnal hypopnea. Peripheral neuropathy was present in two-thirds of all individuals. The majority of the pathogenic variants identified are truncating variants; however, missense variants were also found, predominantly located in the N-terminal and C-terminal regions. The TECPR2 gene is implicated in the autophagy pathway, which is critical to the development and function of the central nervous system. Loss of function variants in several genes of the autophagy pathway lead to both neurodevelopmental and neurodegenerative diseases. In summary, this gene should be promoted to GREEN in this panel, with autosomal recessive mode of inheritance.",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2023-01-20T11:23:59.109790Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.5",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33847017; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2022-12-21T12:24:39.968307Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: DDX3X as Amber List (moderate evidence)",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2022-12-21T12:24:39.954701Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ddx3x has been classified as Amber List (Moderate Evidence).",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2022-12-21T12:23:53.473759Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: DDX3X were set to ",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2022-12-21T12:23:45.931352Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: DDX3X as Red List (low evidence)",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2022-12-21T12:23:45.921738Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ddx3x has been classified as Red List (Low Evidence).",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2022-12-21T12:23:21.764454Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: This gene is associated with a syndromic ID phenotype. A subset (~45%) of affected individuals develop movement disorders. This can comprise progressive spasticity which in some cases forms a presenting feature that is as key as ID, indicating that inclusion of DDX3X on this panel is likely to be beneficial in a diagnostic setting. Therefore, recommending that this gene is rated Green at the next GMS panel update. \nSources: Literature; to: This gene is associated with a syndromic ID phenotype. A subset (~45%) of affected individuals develop a movement disorder. This can comprise progressive spasticity which in some cases forms a presenting feature that is as key as ID, indicating that inclusion of DDX3X on this panel is likely to be beneficial in a diagnostic setting. Therefore, recommending that this gene is rated Green at the next GMS panel update. \r\nSources: Literature",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2022-12-21T12:22:55.050312Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: DDX3X: Changed publications to: 26235985, 29490693, 30936465, 32852922",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2022-12-21T12:22:04.702875Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: DDX3X was added\ngene: DDX3X was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature\nQ4_22_promote_green tags were added to gene: DDX3X.\nMode of inheritance for gene: DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: DDX3X were set to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958\nReview for gene: DDX3X was set to GREEN\nAdded comment: This gene is associated with a syndromic ID phenotype. A subset (~45%) of affected individuals develop movement disorders. This can comprise progressive spasticity which in some cases forms a presenting feature that is as key as ID, indicating that inclusion of DDX3X on this panel is likely to be beneficial in a diagnostic setting. Therefore, recommending that this gene is rated Green at the next GMS panel update. \nSources: Literature",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:35:49.818010Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.1",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T14:35:04.636230Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "3.0",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-14T15:12:18.214487Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.153",
"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": "2022-11-07T12:09:52.290160Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.152",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: CTNNB1 as Amber List (moderate evidence)",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2022-11-07T12:09:52.286690Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.152",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene should be promoted to Green at the next GMS panel update.",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2022-11-07T12:09:52.265809Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.152",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ctnnb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2022-11-07T12:09:27.053251Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.151",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: CTNNB1 was added\ngene: CTNNB1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature\nQ4_22_promote_green tags were added to gene: CTNNB1.\nMode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CTNNB1 were set to 23033978; 24614104; 25326669; 26968164; 27915094; 34321325\nPhenotypes for gene: CTNNB1 were set to Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075\nReview for gene: CTNNB1 was set to GREEN\nAdded comment: Childhood-onset spasticity is a key feature of the neurodevelopmental phenotype caused by pathogenic monoallelic variants in the CTNNB1 gene. Over 15 unrelated cases reported in literature, almost all of which developed spasticity which significantly affected ability to walk. \nSources: Literature",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2022-10-25T10:52:14.099836Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.150",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6, 615010 to Aicardi-Goutieres syndrome 6, OMIM:615010",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-09-15T12:33:02.286770Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.149",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: NRCAM.",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-09-15T12:32:53.526399Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.149",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: NRCAM.\nTag Q3_22_MOI was removed from gene: NRCAM.",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-09-15T12:32:27.888380Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.149",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-09-15T12:31:26.401163Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.149",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1716",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-09-15T12:31:26.364610Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.149",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: NRCAM was added\ngene: NRCAM was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature,Expert Review Amber\nQ3_22_rating, Q3_22_MOI tags were added to gene: NRCAM.\nMode of inheritance for gene: NRCAM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NRCAM were set to 35108495\nPhenotypes for gene: NRCAM were set to Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833\nPenetrance for gene: NRCAM were set to Complete",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-08-31T14:19:58.586047Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.148",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: BLOC1S1 as Amber List (moderate evidence)",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2022-08-31T14:19:58.581576Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.148",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: After seeking consultation from the Helen Brittain (Genomics England Clinical Team) due to the limited details provided in the paper as well as lack of additional support albeit with a sufficient number of total cases with a consistent phenotype (PMID:33875846), it was decided that the number of unrelated families presenting the relevant phenotype meets the criteria for an Amber rating at this time.",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2022-08-31T14:19:58.556368Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.148",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: bloc1s1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2022-08-31T14:19:50.330329Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.147",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: BLOC1S1.",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2022-08-31T14:01:12.834668Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.147",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1700",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2022-08-31T14:01:12.796966Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.147",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: BLOC1S1 was added\ngene: BLOC1S1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature\nwatchlist tags were added to gene: BLOC1S1.\nMode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLOC1S1 were set to 33875846\nPhenotypes for gene: BLOC1S1 were set to severe intellectual disability; severe global developmental delay; epilepsy\nPenetrance for gene: BLOC1S1 were set to unknown",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2022-08-25T13:30:42.558237Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.146",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Childhood onset dystonia or chorea or related movement disorder v1.251",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2022-08-25T13:30:42.507292Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.146",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: NDUFA12 was added\ngene: NDUFA12 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,PanelApp,South West GLH\nQ3_22_rating tags were added to gene: NDUFA12.\nMode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFA12 were set to 21617257; 33715266; 35141356\nPhenotypes for gene: NDUFA12 were set to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2022-08-09T15:25:58.160538Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.145",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1656",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-08-09T15:25:58.128492Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.145",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: TAF8 was added\ngene: TAF8 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature,Expert Review Amber\nQ3_22_rating tags were added to gene: TAF8.\nMode of inheritance for gene: TAF8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAF8 were set to 29648665; 35759269\nPhenotypes for gene: TAF8 were set to Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972\nPenetrance for gene: TAF8 were set to unknown",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-08-05T21:44:57.406460Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.144",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: KPNA3 as Amber List (moderate evidence)",
"entity_name": "KPNA3",
"entity_type": "gene"
},
{
"created": "2022-08-05T21:44:57.402738Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.144",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting this gene from grey to amber with a recommendation of GREEN rating following GMS review.",
"entity_name": "KPNA3",
"entity_type": "gene"
},
{
"created": "2022-08-05T21:44:57.377231Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.144",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: kpna3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KPNA3",
"entity_type": "gene"
},
{
"created": "2022-08-05T21:44:22.589700Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.143",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: KPNA3.\nTag Q3_22_rating tag was added to gene: KPNA3.",
"entity_name": "KPNA3",
"entity_type": "gene"
},
{
"created": "2022-08-05T21:43:59.917873Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.143",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: KPNA3.",
"entity_name": "KPNA3",
"entity_type": "gene"
},
{
"created": "2022-08-05T21:43:25.841941Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.143",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: KPNA3 were changed from Infantile onset spastic paraplegia; developmental delay to autosomal dominant pure spastic paraplegia, MONDO:0015088",
"entity_name": "KPNA3",
"entity_type": "gene"
},
{
"created": "2022-08-05T21:43:09.913356Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.142",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: KPNA3 were set to PMID: 34564892",
"entity_name": "KPNA3",
"entity_type": "gene"
},
{
"created": "2022-08-05T21:42:58.861142Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.141",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of inheritance for gene: KPNA3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KPNA3",
"entity_type": "gene"
},
{
"created": "2022-08-05T21:42:42.648881Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.140",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: KPNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34564892; Phenotypes: autosomal dominant pure spastic paraplegia, MONDO:0015088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KPNA3",
"entity_type": "gene"
},
{
"created": "2022-08-01T11:28:27.135509Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.140",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1641",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2022-08-01T11:28:27.097827Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.140",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: NSRP1 was added\ngene: NSRP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature\nQ3_22_rating tags were added to gene: NSRP1.\nMode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSRP1 were set to 34385670\nPhenotypes for gene: NSRP1 were set to NSRP1-associated developmental delay, epilepsy and microcephaly",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2022-06-28T09:36:52.539467Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.139",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: TMEM63C as Amber List (moderate evidence)",
"entity_name": "TMEM63C",
"entity_type": "gene"
},
{
"created": "2022-06-28T09:36:52.536431Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.139",
"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": "TMEM63C",
"entity_type": "gene"
},
{
"created": "2022-06-28T09:36:52.520870Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.139",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: tmem63c has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM63C",
"entity_type": "gene"
},
{
"created": "2022-06-28T09:35:09.815937Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.138",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: TMEM63C was added\ngene: TMEM63C was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature\nQ3_22_rating tags were added to gene: TMEM63C.\nMode of inheritance for gene: TMEM63C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM63C were set to 35718349\nPhenotypes for gene: TMEM63C were set to hereditary spastic paraplegia, MONDO:0019064\nReview for gene: TMEM63C was set to GREEN\nAdded comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID:35718349 reports four TMEM63C variants in seven individuals from three unrelated families with childhood onset hereditary spastic paraplegia, with mild intellectual disability in some cases. Functional studies in PMID:35718349, reveal a role for TMEM63C in regulating both endoplasmic reticulum and mitochondrial morphologies. \nSources: Literature",
"entity_name": "TMEM63C",
"entity_type": "gene"
},
{
"created": "2022-05-08T15:35:26.845894Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.137",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: RNU7-1.",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2022-05-07T20:03:50.899022Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.137",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: HPDL.",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2022-04-13T15:16:59.180877Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.137",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: HSPD1 as Amber List (moderate evidence)",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-04-13T15:16:59.177594Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.137",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene should be promoted to Green at the next GMS panel update under the AR inheritance pattern for the childhood-onset panel.",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-04-13T15:16:59.157508Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.137",
"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": "2022-04-13T15:15:53.651509Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.136",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_22_rating tag was added to gene: HSPD1.",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-04-13T15:15:40.915655Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.136",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: HSPD1 were set to 17420924; 10677329; 11898127",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-04-13T15:14:10.830317Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.135",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Changed from 'monoallelic' to 'biallelic' as per the review by Zornitza Stark (Australian Genomics) stating that only biallelic variants cause a more severe phenotype including spasticity with onset in childhood.",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-04-13T15:14:10.803468Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.135",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSPD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-04-13T15:02:11.742681Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.134",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant, 605280 to Leukodystrophy, hypomyelinating, 4, OMIM:612233",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:24:13.266338Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.133",
"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": "2022-04-07T12:23:50.452076Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.133",
"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": "2022-04-07T11:58:56.677454Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.133",
"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": "2022-04-07T11:38:06.586505Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.132",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: C19orf12 were set to 23857908; 26539891",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2022-03-25T12:20:33.191817Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.131",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from White matter disorders and cerebral calcification - narrow panel v1.227",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2022-03-25T12:20:33.151591Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.131",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: ACER3 was added\ngene: ACER3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature,Expert Review Amber\nQ1_22_rating tags were added to gene: ACER3.\nMode of inheritance for gene: ACER3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACER3 were set to 26792856; 32816236; 34281620\nPhenotypes for gene: ACER3 were set to Leukodystrophy, progressive, early childhood-onset, OMIM:617762",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:02:30.328811Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"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": "2022-03-15T15:59:38.967812Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on STR: TBP_CAG",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T15:41:53.569526Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on STR: PPP2R2B_CAG",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T13:05:05.454939Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on STR: FXN_GAA",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2022-03-15T12:49:35.368809Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on STR: CACNA1A_CAG",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T12:31:14.722162Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on STR: ATXN7_CAG",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T12:17:51.763027Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on STR: ATXN3_CAG",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T11:47:19.938882Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on STR: ATXN2_CAG",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T11:44:46.640327Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on STR: ATXN10_ATTCT",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2022-03-15T11:42:05.582662Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on STR: ATXN1_CAG",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2022-03-14T13:41:05.085694Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: SLC25A15.",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:40:42.116297Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: RNASEH2B.",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:40:25.661213Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: MAPK8IP3.",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:40:19.548673Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: IFIH1.",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:40:14.916153Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: HPDL.\nTag Q2_21_NHS_review was removed from gene: HPDL.",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:40:07.688163Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: HIKESHI.",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:40:02.405478Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: GPT2.",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:39:51.639223Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: GLRX5.",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:39:45.020327Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: GJA1.",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:39:35.766476Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: GALC.",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:39:14.296616Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: FAR1.",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:39:07.238470Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: ELOVL1.",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:31:23.830134Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: BCAS3.",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:31:18.011289Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: ARL6IP1.",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:31:12.309147Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: ALDH3A2.",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:31:05.941448Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_MOI was removed from gene: AFG3L2.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:07.666489Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: SLC25A15",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:07.650844Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: RNASEH2B",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:07.635703Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: MAPK8IP3",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:07.621617Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: IFIH1",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:07.605403Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: HPDL: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:07.593246Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: HPDL: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:07.582432Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: HPDL",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:07.568288Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: HIKESHI",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:07.548168Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: GPT2",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:07.533913Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: GLRX5",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:07.519531Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: GJA1",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:07.505347Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: GALC",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:07.489694Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: FAR1",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:07.476233Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: ELOVL1",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:07.462942Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: BCAS3",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:07.449336Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: ARL6IP1",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:07.433192Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: ALDH3A2",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:07.414788Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.130",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: AFG3L2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:01.332754Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.129",
"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": "2022-03-14T13:30:01.195566Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.129",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to RNASEH2B.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:01.022803Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.129",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to MAPK8IP3.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:00.869117Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.129",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to IFIH1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:00.504952Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.129",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to HPDL.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:00.324774Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.129",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to HIKESHI.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:30:00.171321Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.129",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to GPT2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:29:59.919788Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.129",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to GLRX5.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:29:59.794614Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.129",
"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": "2022-03-14T13:29:59.655663Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.129",
"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": "2022-03-14T13:29:59.512345Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.129",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to FAR1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:29:59.388572Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.129",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to ELOVL1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:29:59.258474Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.129",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to BCAS3.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:29:59.123620Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.129",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to ARL6IP1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:29:58.953385Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.129",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to ALDH3A2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:29:58.808797Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.129",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene AFG3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-03-10T16:42:56.639252Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.126",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Normal Number of Repeats for HTT_CAG was changed from 40 to 36.\nSource NHS GMS was added to STR: HTT_CAG.",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:55.955995Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.126",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source NHS GMS was added to STR: TBP_CAG.",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:54.766560Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.126",
"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.\nSource NHS GMS was added to STR: PPP2R2B_CAG.",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:52.575369Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.126",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source NHS GMS was added to STR: FXN_GAA.",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:47.839508Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.126",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.\nSource NHS GMS was added to STR: CACNA1A_CAG.",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:46.090442Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.126",
"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.\nSource NHS GMS was added to STR: ATXN7_CAG.",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:45.360040Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.126",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.\nSource NHS GMS was added to STR: ATXN3_CAG.",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:44.269152Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.126",
"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.\nSource NHS GMS was added to STR: ATXN2_CAG.",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:42.496015Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.126",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.\nSource NHS GMS was added to STR: ATXN10_ATTCT.",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:40.708119Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.126",
"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.\nSource NHS GMS was added to STR: ATXN1_CAG.",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2022-03-09T16:12:24.393666Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.125",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: RNU7-1.",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2022-03-09T16:12:02.790889Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.125",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: PCYT2.",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2022-03-09T16:11:58.022221Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.125",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: STN1.",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2022-03-09T16:11:38.242684Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.125",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: STN1: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2022-03-09T16:11:38.234823Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.125",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: PCYT2",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2022-03-09T16:11:38.225845Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.125",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: RNU7-1",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2022-03-09T16:11:33.204793Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.124",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to STN1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2022-03-09T16:11:33.038594Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.124",
"user_name": "Ivone Leong",
"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": "2022-03-09T16:11:32.908467Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.124",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to RNU7-1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2022-02-09T15:58:37.589748Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.123",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2022-01-24T08:57:52.570181Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.122",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1495",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2022-01-24T08:57:52.517476Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.122",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SPATA5L1 was added\ngene: SPATA5L1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature\nQ1_22_rating tags were added to gene: SPATA5L1.\nMode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA5L1 were set to 34626583\nPhenotypes for gene: SPATA5L1 were set to Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2022-01-04T16:00:44.365922Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.121",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q1_22_phenotype tag was added to gene: PI4KA.",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2022-01-04T15:58:27.296952Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.121",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q1_22_expert_review tag was added to gene: PI4KA.\nTag Q1_22_NHS_review tag was added to gene: PI4KA.",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-12-22T13:47:25.453000Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.121",
"user_name": "Evan Reid",
"item_type": "entity",
"text": "commented on gene: PI4KA: This paper supports the idea that mutations in this gene can cause a relatively pure spastic paraplegia (PMID: 34415322 PMCID: PMC8557332 DOI: 10.1093/brain/awab124), which I think would justify inclusion of the gene on the HSP panel.",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-12-22T13:45:46.392985Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.121",
"user_name": "Evan Reid",
"item_type": "entity",
"text": "reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34415322; Phenotypes: spastic paraplegia, leukodystrophy, white matter abnromality, seizures, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:32:23.775772Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.121",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_NHS_review tag was added to gene: HPDL.",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-11-29T16:02:41.830579Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.121",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: RNASEH2B were set to 30223285; 25243380; 29691679; 28762473",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2021-11-29T16:02:11.746852Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.120",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: RNASEH2B as Amber List (moderate evidence)",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2021-11-29T16:02:11.744224Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.120",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Sufficient evidence of childhood-onset spasticity associated with variants in this gene. Upgraded from Red to Amber but should be promoted to Green at the next GMS panel update.",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2021-11-29T16:02:11.719688Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.120",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: rnaseh2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2021-11-29T15:59:27.051384Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.119",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: RNASEH2B.",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2021-11-29T15:56:49.384584Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.119",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, 610181; spastic paraparesis to Aicardi-Goutieres syndrome 2, OMIM:61018",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2021-11-29T14:24:47.744042Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.118",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia to Martsolf syndrome 1, OMIM:212720",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:57:30.307211Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.117",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MAPK8IP3 were changed from Neurodevelopmental disorder with or without variable brain abnormalities, MIM#\t618443 to Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:56:42.804213Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.116",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: MAPK8IP3.",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:56:33.577128Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.116",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: MAPK8IP3 as Amber List (moderate evidence)",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:56:33.574443Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.116",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: 18 individuals from 17 families reported with de novo variants in this gene (PMIDs: 30612693; 30945334) of which 8 subjects presented with spasticity, among other features. Overall there is sufficient evidence to promote this gene to Green at the next GMS panel update.",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:56:33.552209Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.116",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2021-11-24T13:37:37.837649Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.115",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: IFIH1.",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2021-11-24T13:37:27.415550Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.115",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: IFIH1 as Amber List (moderate evidence)",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2021-11-24T13:37:27.412338Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.115",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Spasticity can be a prominent feature of Aicardi-Goutières syndrome (OMIM:615846) and has been reported as an early presenting sign in some cases. There has also been a case of spastic paraplegia without other common manifestations such as abnormal brain imaging and impaired cognitive development. \r\n\r\nOverall there is value in including IFIH1 on this panel and therefore this gene should be promoted to Green at the next GMS panel update.",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2021-11-24T13:37:27.378238Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.115",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ifih1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2021-11-24T13:27:25.551801Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.114",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7 MIM#615846 to Aicardi-Goutieres syndrome 7, OMIM:615846",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2021-11-24T12:10:51.999661Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.113",
"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": "2021-11-24T12:08:52.615685Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.112",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: No further evidence was emerged since initial curation and clinical review in 2019 and therefore will maintain the Amber gene rating on spasticity panels at this time.; to: Comment on list classification: No further evidence has emerged since initial curation and clinical review in 2019 and therefore will maintain the Amber gene rating on spasticity panels at this time.",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2021-11-24T12:07:41.546970Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.112",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: IBA57 as Amber List (moderate evidence)",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2021-11-24T12:07:41.543757Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.112",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: No further evidence was emerged since initial curation and clinical review in 2019 and therefore will maintain the Amber gene rating on spasticity panels at this time.",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2021-11-24T12:07:41.516729Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.112",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: iba57 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2021-11-23T15:26:31.737526Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.111",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: GPT2 were set to 29882329; 31471722; 27601654",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2021-11-23T15:22:53.116432Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.110",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: GPT2.",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2021-11-23T15:22:44.271917Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.110",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: GPT2 as Amber List (moderate evidence)",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2021-11-23T15:22:44.268444Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.110",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. There is sufficient evidence to promote this gene to Green at the next GMS panel update. Spastic paraplegia is a frequently reported sign which develops later in the course of disease but is often severe. As this is a prominent feature of the condition there is value in including GPT2 on this panel. This gene is associated with a relevant phenotype in OMIM (OMIM:616281) but is not yet listed in G2P.",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2021-11-23T15:22:44.236477Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.110",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: gpt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2021-11-23T13:57:06.868154Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.109",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GPT2 were changed from Mental retardation, autosomal recessive 49 MIM#616281 to Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2021-11-23T13:24:52.096167Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.108",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: EXOSC3 as Amber List (moderate evidence)",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2021-11-23T13:24:52.093049Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.108",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating Amber as only two families have been reported to date with early-onset spastic paraplegia associated with biallelic variants in this gene. Other features included variable cognitive impairment and cerebellar atrophy but normal pons.",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2021-11-23T13:24:52.071533Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.108",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: exosc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2021-11-23T11:21:17.086918Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.107",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ELOVL1 were updated from 29496980; 32123819; 30487246 to 23689133; 29496980; 30487246; 32123819",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2021-11-23T11:19:23.009616Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.106",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ELOVL1 as Amber List (moderate evidence)",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2021-11-23T11:19:23.006497Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.106",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. Although only a single variant has been reported to date this was shown to arise de novo in unrelated individuals and the possibility of a founder effect was ruled out. Pathogenicity is supported by functional data including in vitro studies of the variant and complimentary animal models. Overall this is sufficient evidence to rate this gene as Green at the next GMS panel update.",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2021-11-23T11:19:22.991891Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.106",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: elovl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2021-11-23T11:16:20.904638Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.105",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag missense tag was added to gene: ELOVL1.\nTag Q4_21_rating tag was added to gene: ELOVL1.",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2021-11-23T11:15:43.738662Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.105",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: ELOVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23689133, 29496980, 30487246, 32123819; Phenotypes: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2021-11-23T10:38:12.955655Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.105",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ELOVL1 were changed from Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM#\t618527 to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:36:30.851184Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.104",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: CPT1C as Green List (high evidence)",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:36:30.847706Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.104",
"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": "2021-11-22T16:36:30.829504Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.104",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: cpt1c has been classified as Green List (High Evidence).",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:27:19.537652Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.103",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: CPT1C were set to 25751282; 30564185",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:24:57.459695Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.102",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: CPT1C: Rating: ; Mode of pathogenicity: None; Publications: 30911584; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:45:33.348650Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.102",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CPT1C were changed from ?Spastic paraplegia 73, autosomal dominant, 616282, AD to Spastic paraplegia 73, autosomal dominant, OMIM:616282",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:43:29.192486Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.101",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: AP5Z1 were set to Slabicki et al. (2010); 20613862; 24833714; 27606357",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:43:15.611224Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.100",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: AP5Z1: Rating: ; Mode of pathogenicity: None; Publications: 24833714, 27606357, 33543803; Phenotypes: Spastic paraplegia 48, autosomal recessive, OMIM:613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:23:49.995892Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.100",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AP5Z1 were changed from Spastic paraplegia 48, autosomal recessive, OMIM:613647 to Spastic paraplegia 48, autosomal recessive, OMIM:613647",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:23:10.766401Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.99",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AP5Z1 were changed from Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive to Spastic paraplegia 48, autosomal recessive, OMIM:613647",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2021-11-18T16:21:33.774253Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.98",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:05:30.947114Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.97",
"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": "2021-11-11T14:57:10.220002Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.96",
"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": "2021-11-10T16:42:59.455362Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.96",
"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": "2021-11-10T16:38:09.164846Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.95",
"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": "2021-11-10T14:42:28.999843Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.94",
"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": "2021-11-09T16:47:51.308008Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.93",
"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": "2021-11-08T13:16:20.010162Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.92",
"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": "2021-11-05T16:53:16.414069Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.91",
"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": "2021-11-05T16:34:20.690715Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.90",
"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": "2021-11-05T16:08:20.771184Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.89",
"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": "2021-11-05T15:24:24.328687Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.88",
"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": "2021-10-25T10:22:53.347205Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.87",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: PI4KA: Added comment: After consulting with the Genomics England Clinical Team it was decided that this gene should be added to the Hereditary spastic paraplegia - childhood onset panel with an Amber rating.\r\n\r\nHelen Brittain:\r\n\"I think the spasticity is likely to be secondary to the CNS findings and therefore might opt for amber at this stage, as it is perhaps unlikely to be clearly relevant to the more typical cohort with isolated spasticity that will be targeted by that panel.\"; Changed rating: AMBER",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-10-25T10:16:34.472771Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.87",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. \r\n\r\nPMID: 25855803. From OMIM: \"3 fetuses were all diagnosed in utero with multiple congenital anomalies resulting in the termination of pregnancy between 16 and 34 weeks' gestation. All fetuses had bilateral perisylvian polymicrogyria and cerebellar hypoplasia or dysplasia. One had a small pons. Additional features included severe talipes equinovarus, externally rotated hips, and variable contractures of the limbs or fingers.\"\r\n\r\nPMID:34415322. 10 patients from 10 unrelated families with biallelic varaints in PI4KA. Patients showed a spectrum of severe global neurodevelopmental delay (8/10 moderate to severe ID), hypomyelination, cerebellar hyoplasia (1/10), cerebellar atrophy (5/10), bilateral perisylvian polymicrogyria (1/10), immunological problems (hypogammaglobulinaemia, lymphopaenia, and autoimmune neutorpaenia - 4/10), bowl dysfunction (4/10). Age of onset ranged from newborn to 17 years. \r\n\r\nPMID: 34415310. 7 unrelated families. Family 1: Amish. Severe extensive multiple intestinal atresia, IBD and combined immunodeficiency (2/4). Families 3 - 8 all have 1 affected individual, (Turkish, Indian, German and Italian). Global developmental delay (all), ID (severe to mild), cerebellar and/or brainstem anomalies (3/6), spasticity (all), immature gyral pattern (1/6), leukodystrophy (6/6), multiple intestinal atresia (0/6), IBD (3/6), combined immunodeficiency (2/6). Early age of onset.; to: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. \r\n\r\nPMID: 25855803. From OMIM: \"3 fetuses were all diagnosed in utero with multiple congenital anomalies resulting in the termination of pregnancy between 16 and 34 weeks' gestation. All fetuses had bilateral perisylvian polymicrogyria and cerebellar hypoplasia or dysplasia. One had a small pons. Additional features included severe talipes equinovarus, externally rotated hips, and variable contractures of the limbs or fingers.\"\r\n\r\nPMID:34415322. 10 patients from 10 unrelated families with biallelic varaints in PI4KA. Patients showed a spectrum of severe global neurodevelopmental delay (8/10 moderate to severe ID), hypomyelination, cerebellar hyoplasia (1/10), cerebellar atrophy (5/10), bilateral perisylvian polymicrogyria (1/10), immunological problems (hypogammaglobulinaemia, lymphopaenia, and autoimmune neutorpaenia - 4/10), bowl dysfunction (4/10). Age of onset ranged from newborn to 17 years. \r\n\r\nPMID: 34415310. 7 unrelated families. Family 1: Amish. Severe extensive multiple intestinal atresia, IBD and combined immunodeficiency (2/4). Families 3 - 8 all have 1 affected individual, (Turkish, Indian, German and Italian). Global developmental delay (all), ID (severe to mild), cerebellar and/or brainstem anomalies (3/6), spasticity (all), immature gyral pattern (1/6), leukodystrophy (6/6), multiple intestinal atresia (0/6), IBD (3/6), combined immunodeficiency (2/6). Early age of onset.",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-10-25T10:16:19.148637Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.87",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: PI4KA.",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-10-25T10:16:03.293929Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.87",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Ataxia and cerebellar anomalies - narrow panel v2.241",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-10-25T10:16:03.257173Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.87",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PI4KA was added\ngene: PI4KA was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber\nQ3_21_rating tags were added to gene: PI4KA.\nMode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PI4KA were set to 25855803; 34415322; 34415310\nPhenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-10-25T10:12:11.393572Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.86",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: GJA1 were set to 18660473; 22214631; 29927410; 31023660; 33190326; 33612672",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-10-25T10:11:29.833204Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.85",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: GJA1: Regarding inclusion of this gene on the childhood-onset panel, Helen Brittain (Genomics England Clinical Team) suggests - \"As you say, there are sufficient cases albeit seemingly edge cases. I would be inclined to include it on the paediatric panel, as they are outlining the spasticity as a feature of ODDD, rather than a separate clinical entity. ODDD would be a paediatric-age diagnosis to make and the fact that it is clinically recognisable could aid in interpretation of variants of uncertain significance\"",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-10-25T09:58:41.701388Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.85",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Hereditary spastic paraplegia - adult onset v1.73",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-10-25T09:58:41.654976Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.85",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: GJA1 was added\ngene: GJA1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Amber\nQ3_21_rating tags were added to gene: GJA1.\nMode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GJA1 were set to 18660473; 22214631; 29927410; 31023660; 33190326; 33612672\nPhenotypes for gene: GJA1 were set to Oculodentodigital dysplasia, OMIM:164200; Spastic paraplegia",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-10-25T05:56:03.083237Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.84",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "gene: KPNA3 was added\ngene: KPNA3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature\nMode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KPNA3 were set to PMID: 34564892\nPhenotypes for gene: KPNA3 were set to Infantile onset spastic paraplegia; developmental delay\nPenetrance for gene: KPNA3 were set to unknown\nMode of pathogenicity for gene: KPNA3 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: KPNA3 was set to GREEN\nAdded comment: 8 reported families with de novo missense variants, that segregates with pure HSP with infantile onset and some functional data PMID: 34564892 \nSources: Literature",
"entity_name": "KPNA3",
"entity_type": "gene"
},
{
"created": "2021-10-15T09:21:44.805041Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.84",
"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": "2021-10-13T15:13:28.697699Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.83",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1359",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-13T15:13:28.661318Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.83",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ABHD16A was added\ngene: ABHD16A was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature\nQ4_21_rating tags were added to gene: ABHD16A.\nMode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABHD16A were set to 34587489\nPhenotypes for gene: ABHD16A were set to Spastic paraplegia; Intellectual disability",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-08-31T11:07:41.652502Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.82",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: 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.; to: 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, particularly in early-onset cases. SLC25A15 should be promoted to Green at the next GMS panel update.",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2021-08-31T11:06:47.961487Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.82",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Hereditary spastic paraplegia - adult onset v1.68",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2021-08-31T11:06:47.917464Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.82",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: SLC25A15 was added\ngene: SLC25A15 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Amber\nQ3_21_rating tags were added to gene: SLC25A15.\nMode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A15 were set to 11355015; 16376511; 18978333; 22465082; 28592010; 33314525\nPhenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2021-08-26T10:40:51.102621Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.81",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: GALC as Amber List (moderate evidence)",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-08-26T10:40:51.098513Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.81",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: 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": "2021-08-26T10:40:51.078820Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.81",
"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": "2021-08-26T10:40:33.857763Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.80",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: GALC was added\ngene: GALC was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature\nQ3_21_rating tags were added to gene: GALC.\nMode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALC were set to 20886637; 21070211; 26396125; 28547031; 30089515; 31185936\nPhenotypes for gene: GALC were set to Krabbe disease OMIM:245200\nReview for gene: GALC was set to GREEN\nAdded comment: Biallelic variants in GALC are associated with Krabbe disease (MIM# 245200). Most patients present within the first 6 months of life with extreme irritability, spasticity, and developmental delay. A subset of cases also have later onset, including onset in the juvenile and adolescence period - all of which are relevant to this panel. \nSources: Literature",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-08-25T13:37:05.346987Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.79",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Hereditary ataxia v1.241",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2021-08-25T13:37:05.298698Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.79",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: CHP1 was added\ngene: CHP1 was added to Hereditary spastic paraplegia - childhood 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": "2021-08-24T15:53:41.528476Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.78",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: ALDH3A2.",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:53:31.708194Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.78",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ALDH3A2 as Amber List (moderate evidence)",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:53:31.704995Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.78",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Childhood-onset spastic paraparesis is a feature of the condition associated with biallelic variants in this gene (MIM# 270200). There are sufficient unrelated cases (>3) to rate as Green at the next GMS panel update.",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:53:31.676338Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.78",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: aldh3a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:53:27.261711Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.77",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ALDH3A2 were set to 8528251; 29704247",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:05:10.163720Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.76",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH3A2 were changed from Sjogren-Larsson syndrome, MIM#270200 to Sjogren-Larsson syndrome, OMIM:270200",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:03:30.891190Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.75",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: SLC16A2 were set to 12871948; 14661163; 19194886",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2021-08-24T12:27:17.587517Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.74",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome, 300523 to Allan-Herndon-Dudley syndrome, OMIM:300523",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2021-08-24T12:19:35.590700Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.73",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: L1CAM were changed from Hereditary spastic paraplegia; X-linked hydrocephalus, MASA syndrome, 303350 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": "2021-08-23T14:11:47.372653Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf65 were changed from Spastic paraplegia 55, autosomal recessive, 615035; optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy; Combined oxidative phosphorylation deficiency 7, 613559 to Spastic paraplegia 55, autosomal recessive, OMIM:615035",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-08-23T11:43:11.156422Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.71",
"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.; 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": "2021-08-23T09:43:57.959851Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.70",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TFG were changed from ?Spastic paraplegia 57, autosomal recessive, 615658, AR; Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD to Spastic paraplegia 57, autosomal recessive, OMIM:615658",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2021-08-23T09:42:47.189535Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: TFG were set to Beetz et al. (2013); 23479643; 27492651; 27601211; 28124177",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2021-08-23T09:03:48.281484Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: MOI should be changed from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update. \r\n\r\nMonoallelic variants are associated with an adult onset neuropathy (MIM# 604484), a disorder that does not include spasticity and is therefore not relevant to this panel.",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2021-08-23T09:03:48.246695Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: TFG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2021-08-23T09:03:42.525249Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.67",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_MOI tag was added to gene: TFG.",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2021-08-20T16:05:15.129527Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.67",
"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": "2021-08-20T15:49:34.544571Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.66",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SPART were changed from Troyer syndrome, 275900; Spastic paraplegia 20 to Troyer syndrome, OMIM:275900; Spastic paraplegia 20",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:51:37.233229Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.65",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SERAC1 were changed from 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; MEGDEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; MEGDHEL syndrome to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:27:13.485572Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.64",
"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": "2021-08-20T10:16:37.475149Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.63",
"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": "2021-08-20T10:15:43.419876Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.62",
"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": "2021-08-19T15:29:15.520118Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.61",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: NKX6-2 were changed from Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:53:52.556476Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.60",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: KIF1C were set to 24482476; 17273843; 24319291",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2021-08-19T13:22:11.376331Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.59",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1C were changed from Spastic ataxia 2, autosomal recessive, 611302 to Spastic ataxia 2, autosomal recessive, OMIM:611302",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2021-08-19T13:15:07.321249Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: KIDINS220 were set to 27005418; 29667355",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-08-19T11:35:17.452476Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.57",
"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": "2021-08-17T16:34:09.397511Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: HACE1 were set to 26424145; 26437029",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-08-16T15:55:58.617891Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.55",
"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": "2021-08-16T15:34:09.418509Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.54",
"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": "2021-08-16T14:54:24.755042Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.53",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ARG1 were changed from Progressive spastic tetraplegia; Argininaemia, 207800 to Argininemia, OMIM:207800",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-08-16T11:11:31.371589Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.52",
"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": "2021-08-16T11:01:30.686816Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.51",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_MOI tag was added to gene: AIMP1.",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-08-16T11:01:17.202357Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.51",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: MOI should be updated from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update (tagged Q3_21_MOI).\r\n\r\nLiterature review showed that all affected individuals harbour biallelic variants, while heterozygous variant carriers are asymptomatic. The MOI is also biallelic in OMIM, Gen2Phen, and all other relevant panels.",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-08-16T11:01:17.180963Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.51",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: AIMP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-08-16T09:56:49.783967Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.50",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, 260600 to Leukodystrophy, hypomyelinating, 3, OMIM:260600",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-08-04T14:41:35.818658Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.49",
"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": "2021-08-04T14:16:16.835015Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.48",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive, 610357; Mental retardation, autosomal dominant 9, 614255, AD; Neuropathy, hereditary sensory, type IIC, 614213 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": "2021-08-02T07:37:54.461072Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.47",
"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": "2021-07-28T10:42:16.072612Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.46",
"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": "2021-07-06T10:52:00.599957Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, 617183 to Harel-Yoon syndrome, OMIM:617183; Spastic paraplegia",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2021-07-06T10:51:29.349040Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.44",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: ATAD3A: Rating: ; Mode of pathogenicity: None; Publications: 28158749, 27640307, 33845882; Phenotypes: Harel-Yoon syndrome, OMIM:617183, Spastic paraplegia; Mode of inheritance: None",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2021-06-30T14:26:43.126649Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.44",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: ARL6IP1 were changed from Spastic paraplegia to Spastic paraplegia 61, autosomal recessive, OMIM:615685; hereditary spastic paraplegia 61, MONDO:0014304",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2021-06-30T14:25:52.657239Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.43",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: ARL6IP1 were set to Novarino et al. (2014); 24482476; 28471035",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2021-06-30T14:25:40.525945Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.42",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: ARL6IP1 as Amber List (moderate evidence)",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2021-06-30T14:25:40.522798Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.42",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Leaving rating as amber but with recommendation for promotion to green at the next review. 4 cases reported with 3 different variants.",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2021-06-30T14:25:40.508028Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.42",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: arl6ip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2021-06-30T14:24:53.968148Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.41",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: ARL6IP1.",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2021-06-30T14:24:41.148607Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.41",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 31272422, 30980493, 28471035; Phenotypes: Spastic paraplegia 61, autosomal recessive, OMIM:615685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2021-06-28T11:18:15.859415Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.41",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype.\r\n\r\nBoth biallelic and monoallelic variants have been linked to disease; both supported by functional data but showing distinct biochemical phenotypes. Spastic quadriparesis or spasticity were reported in 5/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and spastic paraparesis was a feature in 12/12 patients with heterozygous de novo variants (PMID: 33239752). Paediatric onset. \nSources: Literature; to: Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype.\r\n\r\nBoth biallelic and monoallelic variants have been linked to disease; both supported by functional data but showing distinct biochemical phenotypes. Spastic quadriparesis or spasticity were reported in 5/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and spastic paraparesis was a feature in 12/12 patients with heterozygous de novo variants affecting the Arg480 residue (PMID: 33239752). Paediatric onset. \r\nSources: Literature",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-06-23T10:28:59.288373Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.41",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1143",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-23T10:28:59.253607Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.41",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: BCAS3 was added\ngene: BCAS3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature\nQ2_21_rating tags were added to gene: BCAS3.\nMode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCAS3 were set to 34022130\nPhenotypes for gene: BCAS3 were set to Syndromic neurodevelopmental disorder",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T13:15:35.933215Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.40",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive, 270800 to Spastic paraplegia 5A, autosomal recessive, OMIM:270800",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2021-05-27T09:31:03.913123Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.39",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: HIKESHI.",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2021-05-26T15:23:08.548151Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.39",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from White matter disorders and cerebral calcification - narrow panel v1.119",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2021-05-26T15:23:08.513588Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.39",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: HIKESHI was added\ngene: HIKESHI was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HIKESHI were set to 26545878; 28000699\nPhenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, OMIM:616881",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2021-05-24T12:39:51.832706Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: GLRX5.",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2021-05-24T12:32:29.021627Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: GLRX5 as Amber List (moderate evidence)",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2021-05-24T12:32:29.018832Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.38",
"user_name": "Ivone Leong",
"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 not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2021-05-24T12:32:28.998776Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: glrx5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2021-05-24T12:32:20.295577Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GLRX5 were changed from Spasticity, childhood-onset, with hyperglycinemia\t616859 to Spasticity, childhood-onset, with hyperglycinemia, OMIM:616859",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2021-05-19T10:38:28.997958Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from White matter disorders and cerebral calcification - narrow panel v1.98",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-19T10:38:28.965287Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: POLR3K was added\ngene: POLR3K was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature,Expert Review Amber\nwatchlist, founder-effect tags were added to gene: POLR3K.\nMode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3K were set to 30584594; 33659930\nPhenotypes for gene: POLR3K were set to Leukodystrophy, hypomyelinating, 21, OMIM:619310",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-19T09:55:34.019018Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.35",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: AFG3L2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive OMIM:614487, spastic ataxia 5 MONDO:0013776, Spinocerebellar ataxia 28 OMIM:610246, spinocerebellar ataxia type 28 MONDO:0012450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2021-05-19T09:51:56.342047Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.35",
"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": "2021-05-18T16:51:15.355420Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.35",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: AFG3L2 were changed from Ataxia, spastic, 5, autosomal recessive; Spastic ataxia 5, autosomal recessive, 614487 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": "2021-05-18T11:14:07.684671Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.34",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: HPDL were set to 32707086; 33188300",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-05-11T14:41:00.476824Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.33",
"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": "2021-05-11T10:33:45.787211Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.32",
"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": "2021-05-11T10:33:36.731977Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.31",
"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": "2021-05-04T14:05:04.952004Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.30",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: FAR1 as Amber List (moderate evidence)",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:05:04.948698Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.30",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:05:04.929663Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.30",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: far1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:04:40.644281Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.29",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: FAR1 was added\ngene: FAR1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature\nQ2_21_rating tags were added to gene: FAR1.\nMode of inheritance for gene: FAR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: FAR1 were set to 25439727; 30561787; 33239752\nPhenotypes for gene: FAR1 were set to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154\nReview for gene: FAR1 was set to GREEN\nAdded comment: Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype.\r\n\r\nBoth biallelic and monoallelic variants have been linked to disease; both supported by functional data but showing distinct biochemical phenotypes. Spastic quadriparesis or spasticity were reported in 5/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and spastic paraparesis was a feature in 12/12 patients with heterozygous de novo variants (PMID: 33239752). Paediatric onset. \nSources: Literature",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-05-04T09:07:26.529549Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.28",
"user_name": "Cristina Dias",
"item_type": "entity",
"text": "reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32707086, 33188300; Phenotypes: microcephaly, spastic paraplegia, seizures, demyelinating neuropathy, regression, developmental delay, chronic progression, movement disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-03-01T10:03:26.279113Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.28",
"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": "2021-02-24T14:48:48.022752Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.28",
"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": "2021-02-24T14:48:38.076235Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.28",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "commented on gene: C12orf65",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-02-09T15:18:59.753359Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.28",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: HPDL were changed from spastic paraplegia; spastic tetraplegia; microcephaly; brain atrophy; epilepsy; severe intellectual and motor disability to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613; Spastic paraplegia 83, autosomal recessive, OMIM:619027; Spastic paraplegia 83, autosomal recessive, MONDO:0033614",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-02-09T15:18:52.263037Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.27",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: HPDL were set to PMID: 32707086; 33188300",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-02-09T15:18:45.539981Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.26",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: HPDL as Amber List (moderate evidence)",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-02-09T15:18:45.535579Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.26",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Evan Reid (University of Cambridge). There is enough evidence for this gene to be rated Green at the next major review.",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-02-09T15:18:45.513883Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.26",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: hpdl has been classified as Amber List (Moderate Evidence).",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-02-09T15:18:30.798341Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: HPDL.",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-02-09T15:18:16.066179Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 32707086, 33188300; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613, Spastic paraplegia 83, autosomal recessive, OMIM:619027, Spastic paraplegia 83, autosomal recessive, MONDO:0033614; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-02-04T15:11:52.522184Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.25",
"user_name": "Evan Reid",
"item_type": "entity",
"text": "gene: HPDL was added\ngene: HPDL was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature\nMode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPDL were set to PMID: 32707086; 33188300\nPhenotypes for gene: HPDL were set to spastic paraplegia; spastic tetraplegia; microcephaly; brain atrophy; epilepsy; severe intellectual and motor disability\nPenetrance for gene: HPDL were set to Complete\nReview for gene: HPDL was set to GREEN\nAdded comment: Newly identified gene that can give a phenotype ranging from infantile epileptic encephalopathy to juvenile onset progressive spastic paraplegia. \nSources: Literature",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-01-25T17:47:31.919444Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: RNU7-1 as Amber List (moderate evidence)",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-25T17:47:31.914187Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag) - spasticity (with or without dystonia) was a feature in all 11 families reported with biallelic variants in this gene (PMID:33230297)",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-25T17:47:31.889708Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: rnu7-1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-25T17:32:19.172364Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: RNU7-1 was added\ngene: RNU7-1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature\nfor-review tags were added to gene: RNU7-1.\nMode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU7-1 were set to 33230297\nPhenotypes for gene: RNU7-1 were set to Type I interferonopathy; Aicardi-Goutières syndrome\nReview for gene: RNU7-1 was set to GREEN\nAdded comment: Not associated with any phenotype in OMIM or Gene2Phenotype.\r\n\r\n- PMID: 33230297 (2020) - 16 individuals from 11 families with biallelic variants in the RNU7-1 gene. Clinical features were typical of Aicardi–Goutières syndrome, including spasticity, dystonia, epilepsy, peripheral neuropathy, brain calcification, mild skin involvement and delayed psychomotor development. Upregulated interferon signalling was detected in patient blood and fibroblasts. 4/12 variants were observed in 2 or more families - several from different ethnic backgrounds. 8 variants are recorded in gnomAD but at a frequency of ≤0.005, and no biallelic variants were identified in control populations. Some functional data showing a disturbance of histone RNA processing in patient-derived compared to control fibroblasts. \nSources: Literature",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-05T15:43:40.931318Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.23",
"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": "2021-01-05T15:34:36.375963Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.22",
"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": "2020-11-30T12:19:04.936796Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.21",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: STN1 as Amber List (moderate evidence)",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2020-11-30T12:19:04.933221Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.21",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least four variants reported in three unrelated cases, together with a supportive zebrafish model and other functional studies.\r\n\r\nThere is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2020-11-30T12:19:04.912448Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.21",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: stn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2020-11-30T12:17:56.220258Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: STN1 was added\ngene: STN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature\nfor-review tags were added to gene: STN1.\nMode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STN1 were set to 27432940; 32627942\nPhenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341\nReview for gene: STN1 was set to GREEN\nAdded comment: Comments from Zornitza Stark (Australian Genomics) Three individuals from unrelated families described with a multisystem disorder characterized by premature aging, pancytopaenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding, as well as intracranial calcifications and leukodystrophy, resulting in spasticity, ataxia, or dystonia. Gene belongs on multiple panels. \nSources: Literature",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2020-11-04T03:19:17.357436Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALK was added\ngene: ALK was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature\nMode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALK were set to 32989326\nPhenotypes for gene: ALK were set to Spastic-dystonic diplegia\nReview for gene: ALK was set to AMBER\nAdded comment: Variants in this gene are linked to susceptibility to neuroblastoma.\r\n\r\nPMID: 32989326 - Large cohort study of cerebral palsy cases identified two de novo variants in two patients with spastic diplegia with mild tremor, scattered subcortical hyperintensities and an atrial septal defect; and spastic-dystonic diplegia, white matter abnormalities and epilepsy, respectively, with no evidence of neuroblastoma in either patient. \nSources: Literature",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2020-11-04T03:06:51.971251Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RHOB was added\ngene: RHOB was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature\nMode of inheritance for gene: RHOB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RHOB were set to 32989326\nPhenotypes for gene: RHOB were set to Cerebral palsy\nReview for gene: RHOB was set to AMBER\nAdded comment: Recurrent de novo missense variant reported in 2 unrelated families from a 'cerebral palsy' cohort with supporting functional studies. \nSources: Literature",
"entity_name": "RHOB",
"entity_type": "gene"
},
{
"created": "2020-10-19T16:29:06.142440Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.19",
"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": "2020-10-08T09:35:49.654520Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.19",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-10-07T09:22:58.174831Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified STR: HTT_CAG as No list",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2020-10-07T09:22:58.169789Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.17",
"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": "2020-10-07T09:22:58.126922Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.17",
"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": "2020-10-05T08:51:11.704084Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: PCYT2 as Amber List (moderate evidence)",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-10-05T08:51:11.700828Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.16",
"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. Based on the review by Rebecca Foulger, there is sufficient evidence to rate this gene Green.",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-10-05T08:51:11.675246Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.16",
"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": "2020-09-20T07:37:56.898894Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant, 603563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2020-09-20T07:15:20.202718Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176824, 26542466; Phenotypes: Spastic paraplegia 49, autosomal recessive, 615031, Autonomic-sensory neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2020-09-20T06:38:48.400339Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNF170 was added\ngene: RNF170 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list\nMode of inheritance for gene: RNF170 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF170 were set to 31636353\nPhenotypes for gene: RNF170 were set to Hereditary spastic paraplegia\nReview for gene: RNF170 was set to GREEN\nAdded comment: Four families reported with a complicated HSP phenotype. \nSources: Expert list",
"entity_name": "RNF170",
"entity_type": "gene"
},
{
"created": "2020-09-20T06:37:21.747631Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29691679, 30223285, 29239743, 28762473; Phenotypes: Aicardi-Goutieres syndrome 2, MIM# 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-09-19T08:53:13.270183Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32376645; Phenotypes: Martsolf syndrome, MIM# 212720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-09-19T07:54:27.463665Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAPK8IP3 was added\ngene: MAPK8IP3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list\nMode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAPK8IP3 were set to 30612693; 30945334\nPhenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities, MIM#\t618443\nReview for gene: MAPK8IP3 was set to GREEN\ngene: MAPK8IP3 was marked as current diagnostic\nAdded comment: PMID: 30612693 - 13 unrelated children patients with de novo variants, supported by functional studies. Patients have developmental delay (13/13), spasticity (4/13), ataxia (2/13), unstable gait (1/13), microcephaly (3/13), generalized seizures (3/13). No signs of regression, but cerebellar atrophy (3/12), thin corpus callosum (4/10), perisylvian polymicrogyria (2/12), white matter loss (4/12) was noted\r\n\r\nPMID: 30945334 - 5 child patients (4 families) with spastic diplegia (4/5), ID (5/5), epilepsy (2/5) and cerebellar atrophy (5/5), corpus callosum hypoplasia (5/5).\r\n\r\nOverall 8/18 individuals with spasticity. \nSources: Expert list",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-09-19T07:47:18.737554Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 26179919, 31402626, 32629324; Phenotypes: Spastic paraplegia 75, autosomal recessive, MIM# 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2020-09-19T07:41:10.173968Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLC2 was added\ngene: KLC2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list\nMode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541\nReview for gene: KLC2 was set to GREEN\ngene: KLC2 was marked as current diagnostic\nAdded comment: In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. Gene is associated with disease, however deletion may not be tractable by all testing methods and/or this association may be better defined as a CNV. \nSources: Expert list",
"entity_name": "KLC2",
"entity_type": "gene"
},
{
"created": "2020-09-19T07:35:48.898360Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFIH1 was added\ngene: IFIH1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list\nMode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IFIH1 were set to 25243380; 31427910; 24686847; 24995871\nPhenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7 MIM#615846\nReview for gene: IFIH1 was set to GREEN\nAdded comment: At least four cases reported with spastic paraparesis as a feature of the condition. \nSources: Expert list",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2020-09-19T07:33:58.302309Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 25609768, 30258207; Phenotypes: Spastic paraplegia 74, autosomal recessive MIM#616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-19T07:32:34.581423Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 4, MIM# 612233, Spastic paraplegia 13, autosomal dominant, MIM# 605280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2020-09-19T07:30:00.642899Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPT2 was added\ngene: GPT2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list\nMode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPT2 were set to 29882329; 31471722; 27601654\nPhenotypes for gene: GPT2 were set to Mental retardation, autosomal recessive 49 MIM#616281\nReview for gene: GPT2 was set to GREEN\ngene: GPT2 was marked as current diagnostic\nAdded comment: Paediatric onset spastic paraglegia is a prominent feature of the condition, >3 unrelated families reported. \nSources: Expert list",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2020-09-19T07:28:06.473163Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLRX5 was added\ngene: GLRX5 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list\nMode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLRX5 were set to 24334290; 30770271\nPhenotypes for gene: GLRX5 were set to Spasticity, childhood-onset, with hyperglycinemia\t616859\nReview for gene: GLRX5 was set to GREEN\ngene: GLRX5 was marked as current diagnostic\nAdded comment: Spasticity is a key presenting feature of this condition. \nSources: Expert list",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-09-19T07:20:10.148311Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXOSC3 was added\ngene: EXOSC3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list\nMode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOSC3 were set to 25149867; 23975261\nPhenotypes for gene: EXOSC3 were set to Complicated hereditary spastic paraplegia\nReview for gene: EXOSC3 was set to AMBER\nAdded comment: Two families with a complicated HSP phenotype. \nSources: Expert list",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2020-09-19T07:16:43.069619Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELOVL1 was added\ngene: ELOVL1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list\nMode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ELOVL1 were set to 29496980; 32123819; 30487246\nPhenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM#\t618527\nReview for gene: ELOVL1 was set to GREEN\ngene: ELOVL1 was marked as current diagnostic\nAdded comment: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity. Affected individuals have mild facial dysmorphism.\r\n\r\nSame two individuals reported in two publications. Both had the same variant, p.S165F, which arose de novo, suggesting the residue is important in pathogenesis. Mouse model. \nSources: Expert list",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2020-09-18T07:30:23.014442Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CPT1C: Rating: RED; Mode of pathogenicity: None; Publications: 25751282; Phenotypes: Spastic paraplegia 73, autosomal dominant, 616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2020-09-17T10:19:33.989136Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28158749, 27640307; Phenotypes: Harel-Yoon syndrome, MIM# 617183; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-09-17T08:59:05.251939Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26085577; Phenotypes: Spastic paraplegia 48, autosomal recessive, MIM# 613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2020-09-17T08:57:33.594781Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH3A2 was added\ngene: ALDH3A2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list\nMode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH3A2 were set to 8528251; 29704247\nPhenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, MIM#270200\nReview for gene: ALDH3A2 was set to GREEN\nAdded comment: Early-onset spastic paraparesis is a feature of the condition. >3 families reported with biallelic variants. \nSources: Expert list",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-08-24T15:18:27.981602Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ATAD3A was added\ngene: ATAD3A was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature\nMode of inheritance for gene: ATAD3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ATAD3A were set to 28158749\nPhenotypes for gene: ATAD3A were set to Harel-Yoon syndrome, 617183\nReview for gene: ATAD3A was set to RED\nAdded comment: Added as a Red gene based on the available literature. There is only one case. PMID: 28158749 describes a family with monoallelic variant (c.1064 G>A, G355D) where affected mother and son do not have optic atrophy nor HCM but have hereditary spastic paraplegia. \nSources: Literature",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-08-05T14:23:13.624107Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.14",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: SARS2 as Amber List (moderate evidence)",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2020-08-05T14:23:13.612683Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.14",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: sars2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2020-08-05T14:21:57.787641Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SARS2 was added\ngene: SARS2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature\nMode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SARS2 were set to 21255763; 24034276; 27279129\nPhenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845; Progressive Spastic Paresis\nReview for gene: SARS2 was set to AMBER\nAdded comment: PMID 27279129 reports a child with progressive spastic paresis with a homozygous splicing variant (c.1347G>A (NM_017827.3)), which was shown in vitro to result in retention of intron 14 and premature chain termination, leading to diminished levels of the synthetase in patient's fibroblasts. \nSources: Literature",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2020-06-16T10:54:55.208848Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 31272422, 30980493, 28471035; Phenotypes: Spastic paraplegia 61, autosomal recessive, MIM#615685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2020-05-11T15:07:48.642777Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.12",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: PCYT2.",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-05-11T15:07:43.876197Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.12",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: PCYT2 as Green List (high evidence)",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-05-11T15:07:43.871159Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.12",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Added to panel based on sufficient cases in PMID:31637422 with HSP phenotype. Updated rating to Green following confirmation from Helen Brittain, Genomics England Clinical Team, that phenotype is appropriate for the panel. Added 'for-review' tag so that GLHs can confirm that gene is indeed required for childhood onset panel (as Helen notes: one patient had onset at 16 and mild delay of motor skills).",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-05-11T15:07:43.844999Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.12",
"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": "2020-05-11T15:03:08.630792Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.11",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PCYT2 was added\ngene: PCYT2 was added to Hereditary spastic paraplegia - childhood 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": "2020-03-02T10:57:21.734118Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.10",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-02T10:56:43.444336Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.9",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-13T15:18:51.183427Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:18:34.124665Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KIF1A: As a result of watchlist tag audit the watchlist tag was removed from KIF1A- this is now a green gene with sufficient evidence/review",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-11-13T08:49:07.993838Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.6",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from Childhood onset hereditary spastic paraplegia; Childhood onset hereditary spastic paraplegia; R61 to Childhood onset hereditary spastic paraplegia; R61",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-13T08:48:50.680150Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.5",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from Childhood onset hereditary spastic paraplegia; R61 to Childhood onset hereditary spastic paraplegia; Childhood onset hereditary spastic paraplegia; R61",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-12T13:12:19.183817Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: RNASEH2B were set to 30223285; :25243380; 29691679; 28762473",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2019-11-12T13:12:13.168871Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: RNASEH2B were changed from hereditary spastic paraparesis to Aicardi-Goutieres syndrome 2, 610181; spastic paraparesis",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2019-11-12T13:11:53.242589Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RNASEH2B as Red List (low evidence)",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2019-11-12T13:11:53.239185Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New Green rated gene added by reviewer after panel sign off to V1.0- to be reviewed at next panel update with the Neurology Test Group for GMS. The 100,000 Genomes Project has identified one case and recent publications have reported RNASEH2B variants in homozygous status in patients with spastic paraplegia. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2019-11-12T13:11:53.212008Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rnaseh2b has been classified as Red List (Low Evidence).",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2019-11-12T12:59:53.259011Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: RNASEH2B were set to PMID:30223285, PMID:25243380, PMID:29691679 and PMID:28762473",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2019-11-12T12:47:12.958391Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.0",
"user_name": "Zerin Hyder",
"item_type": "entity",
"text": "gene: RNASEH2B was added\ngene: RNASEH2B was added to Hereditary spastic paraplegia - childhood 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\nPenetrance for gene: RNASEH2B were set to unknown\nMode of pathogenicity for gene: RNASEH2B was set to Other\nReview for gene: RNASEH2B was set to GREEN\nAdded comment: Above publications report the association of pure, childhood-onset spastic paraparesis in association with missense recessive variants in RNASEH2B. \nSources: Other",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2019-10-18T15:35:29.431148Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.0",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-10-18T15:24:12.087889Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.180",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from Childhood onset hereditary spastic paraplegia;R61 to Childhood onset hereditary spastic paraplegia; R61\nPanel types changed to GMS Rare Disease Virtual; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-30T12:40:08.836056Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.179",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from Childhood onset hereditary spastic paraplegia to Childhood onset hereditary spastic paraplegia;R61",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-06T14:30:11.723944Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.178",
"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": "2019-09-06T14:30:05.798851Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.178",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MARS",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2019-09-06T11:42:55.412323Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.178",
"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": "2019-09-06T11:38:40.304653Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.178",
"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": "2019-05-22T12:11:30.042326Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.177",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of STR: PPP2R2B_CAG: Changed rating: AMBER",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T12:11:16.047633Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.177",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of STR: HTT_CAG: Changed rating: AMBER",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T12:11:02.781624Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.177",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of STR: CACNA1A_CAG: Changed rating: AMBER",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T12:10:50.150235Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.177",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of STR: ATXN7_CAG: Changed rating: AMBER",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T12:10:37.513736Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.177",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of STR: ATXN3_CAG: Changed rating: AMBER",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T12:10:14.303767Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.177",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of STR: ATXN2_CAG: Changed rating: AMBER",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T12:07:52.821117Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.177",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of STR: ATXN1_CAG: Changed rating: AMBER",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T12:07:29.507468Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.177",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of STR: ATXN10_ATTCT: Changed rating: AMBER",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2019-05-22T12:01:27.760287Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.177",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: TBP_CAG as Amber List (moderate evidence)",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T12:01:27.756970Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.177",
"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.",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T12:01:27.737514Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.177",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: tbp_cag has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T11:43:32.730118Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.176",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: PPP2R2B_CAG as Amber List (moderate evidence)",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T11:43:32.727211Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.176",
"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.",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T11:43:32.707671Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.176",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: ppp2r2b_cag has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T11:39:08.602866Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.175",
"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": "2019-05-22T11:39:08.600165Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.175",
"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": "2019-05-22T11:39:08.585142Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.175",
"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": "2019-05-22T11:36:19.418876Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.174",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: CACNA1A_CAG as Amber List (moderate evidence)",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T11:36:19.416326Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.174",
"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.",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T11:36:19.399177Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.174",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: cacna1a_cag has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T11:35:10.830394Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.173",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: ATXN7_CAG as Amber List (moderate evidence)",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T11:35:10.827375Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.173",
"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.",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T11:35:10.809723Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.173",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: atxn7_cag has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T11:34:54.902805Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.172",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: ATXN3_CAG as Amber List (moderate evidence)",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T11:34:54.900214Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.172",
"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.",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T11:34:54.885335Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.172",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: atxn3_cag has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T11:34:38.412973Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.171",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: ATXN2_CAG as Amber List (moderate evidence)",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T11:34:38.410102Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.171",
"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.",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T11:34:38.394840Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.171",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: atxn2_cag has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T11:10:34.160088Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.170",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: ATXN1_CAG as Amber List (moderate evidence)",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T11:10:34.157397Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.170",
"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.",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T11:10:34.138083Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.170",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: atxn1_cag has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2019-05-22T11:10:00.496342Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.169",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: FXN_GAA: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May. Agreed to leave rating as Green.",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2019-05-22T11:08:53.390279Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.169",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: ATXN10_ATTCT as Amber List (moderate evidence)",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2019-05-22T11:08:53.387154Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.169",
"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 2019. Agreed to change the rating from Green to Amber.",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2019-05-22T11:08:53.372845Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.169",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: atxn10_attct has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2019-05-22T10:55:31.357469Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.168",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: FXN as Green List (high evidence)",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2019-05-22T10:55:31.351117Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.168",
"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": "2019-05-22T10:39:06.633047Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.167",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: FXN was added\ngene: FXN was added to Hereditary spastic paraplegia - childhood 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": "2019-05-21T16:50:23.329428Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"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": "2019-05-21T16:50:23.311170Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VPS37A: Red gene with Green 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": "2019-05-21T16:50:23.298856Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VAMP1: Red gene with Green 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": "2019-05-21T16:50:23.287179Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TFG: 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": "TFG",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:50:23.275488Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TECPR2: Red gene with Green 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": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:50:23.263256Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLC33A1: Amber gene with Green and 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": "2019-05-21T16:50:23.247294Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLC25A46: 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": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:50:23.231009Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: REEP2: 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": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:50:23.215079Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PSEN1: Red gene with Green 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": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:50:23.199317Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: POLR3A: 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": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:50:23.184966Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MTPAP: Amber gene with Green 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": "2019-05-21T16:50:23.172904Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MARS2: Amber gene with Green 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": "2019-05-21T16:50:23.160528Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MAG: Amber gene with Green 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": "2019-05-21T16:50:23.148977Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: LYST: Amber gene with Green 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": "2019-05-21T16:50:23.137353Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KIF1C: 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": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:50:23.120183Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KDM5C: 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": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:50:23.105990Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: IBA57: Amber gene with Green 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": "2019-05-21T16:50:23.092329Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GJC2: Red gene with Green 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": "2019-05-21T16:50:23.078070Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GCH1: 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": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:50:23.067785Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"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": "2019-05-21T16:50:23.052515Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"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": "2019-05-21T16:50:23.037299Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DSTYK: Red gene with Green 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": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:50:23.023838Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DARS: 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": "DARS",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:50:23.012802Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CDK16: Amber 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": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:50:23.002091Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CAPN1: 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": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:50:22.990843Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"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": "2019-05-21T16:50:22.976324Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP5Z1: 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": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:50:22.964755Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AMPD2: Amber gene with Green 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": "2019-05-21T16:49:59.083816Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to WDR48.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "WDR48",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:49:58.942434Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to VPS37A.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:49:58.799029Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to VAMP1.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:49:58.658822Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to TFG.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:49:58.517185Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to TECPR2.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:49:58.364875Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to SLC33A1.\nRating Changed from Amber List (moderate evidence) to Red List (low evidence)",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:49:58.219129Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to SLC25A46.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:49:58.070629Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to REEP2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:49:57.144895Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to KIF1C.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:49:57.000797Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to KDM5C.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:49:56.723380Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to GJC2.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:49:56.578130Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GCH1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:49:56.431445Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to GAD1.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:49:56.293724Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ENTPD1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:49:56.155868Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to DSTYK.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:49:56.015238Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DARS.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:49:55.873172Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to CDK16.\nRating Changed from Amber List (moderate evidence) to Red List (low evidence)",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:49:55.716175Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CAPN1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:49:55.565814Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to ARL6IP1.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-05-21T16:49:55.412999Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to AP5Z1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:35:09.845432Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:34:57.198649Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:34:38.501034Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:34:20.425121Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:34:08.318647Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:33:55.091977Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:33:41.621401Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:33:31.453661Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:33:21.701122Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:33:10.331242Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:32:59.291844Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:32:44.660616Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:32:34.441358Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:32:23.626586Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:32:10.006330Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:31:52.832809Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:31:40.785106Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:31:25.284895Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:31:11.286976Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:30:55.036913Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:30:40.715766Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:30:27.543811Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:30:16.940491Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:29:59.540803Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:29:00.916941Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:28:22.212328Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:28:11.517115Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:27:59.615474Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:27:49.849081Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:27:40.506874Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:27:31.522151Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:27:21.579719Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:27:08.361780Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:26:58.757983Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:26:42.474128Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:26:30.775048Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:26:07.579478Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:05:35.147504Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:04:57.389586Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:04:40.919101Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:02:07.319217Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ABCD1 were set to 23664929; 11739809; 26049658; 27084228; 11810273",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:01:45.187824Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.163",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:01:27.998053Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.163",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ADAR were set to 25243380",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:01:17.293525Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.162",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:01:03.197407Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.162",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: AFG3L2 were set to ",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:00:53.523555Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.161",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:00:28.282616Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.161",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: AIMP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T15:00:12.594470Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.160",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: AIMP1 were set to 21092922",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:59:56.749732Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.159",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:59:14.386870Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.159",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ALDH18A1 were set to ",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:59:04.117079Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.158",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:58:48.761109Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.158",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ALS2 were changed from Spastic paralysis, infantile onset ascending, 607225 to Spastic paralysis, infantile onset ascending,autosomal recessive, 607225; Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:58:28.132223Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.157",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ALS2 were set to 12145748",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:58:18.388609Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.156",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:57:55.979136Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.156",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: AMPD2 were changed from Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic) to ?Spastic paraplegia 63, 615686, AR; Pontocerebellar hypoplasia, type 9, 615809, AR",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:57:44.882421Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.155",
"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": "2019-05-13T14:57:35.576923Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.154",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:57:03.630387Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.154",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: AP4B1 were set to 21620353",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:56:51.449015Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.153",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:55:40.305815Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.153",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:55:30.520873Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.153",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: AP4E1 were set to 20972249",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:55:07.701215Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.152",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:55:04.213750Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.152",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: AP4M1 were set to 19559397",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:54:43.057633Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.151",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: AP4S1 were set to 21620353",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:54:31.048415Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.150",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:54:21.920658Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.150",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:54:13.551434Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.150",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: AP5Z1 were set to Slabicki et al. (2010) i",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:53:50.398968Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.149",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:53:25.947957Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.149",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ATL1 were set to 11685207",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:53:15.185445Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:53:03.265925Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:52:45.790527Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ATP13A2 were set to 28137957; 27217339",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:52:25.584536Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.147",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: B4GALNT1 were set to 23746551",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:52:14.205039Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:52:01.150465Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:51:56.615895Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.146",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: BSCL2 were set to 13680364; 14981520",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:51:35.584941Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.145",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:51:27.149062Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.145",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf65 were changed from Spastic paraplegia 55, autosomal recessive, 615035 to Spastic paraplegia 55, autosomal recessive, 615035; optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy; Combined oxidative phosphorylation deficiency 7, 613559",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:51:12.313132Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.144",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: C12orf65 were set to 23188110",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:50:49.292716Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.143",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: C19orf12 were set to 23857908",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:50:38.555853Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.142",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:50:19.720316Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.142",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CAPN1 were set to 27153400",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:49:22.757546Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.141",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:49:07.275091Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.141",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:40:55.823230Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.141",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CYP2U1 were set to 23176821",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:40:39.135127Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.140",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:40:22.508809Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.140",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:40:19.789436Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.140",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CYP7B1 were set to 19439420; 18252231",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:39:52.444296Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.139",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:39:39.697391Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.139",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:39:33.721943Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.139",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DDHD1 were set to 23176821",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:39:11.280410Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.138",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:38:49.118927Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.138",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DDHD2 were set to 23176823",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:38:03.786530Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.137",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:37:48.115198Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.137",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:37:06.054564Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.137",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ERLIN2 were set to 23109145; 22554690; 23085305; 27824013; 29528531; 23109142; 28832565; 21330303; 23897027; 21796390; 25977983",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:36:40.739886Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:36:32.883952Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:35:55.882577Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: FA2H were set to 19068277",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:35:32.636207Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:35:18.731265Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: GBA2 were set to 23332916",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:35:07.750865Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:34:49.882785Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:34:34.854759Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:33:46.275550Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:33:41.621089Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.134",
"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": "2019-05-13T14:33:41.265306Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.134",
"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": "2019-05-13T14:32:41.731889Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:32:35.310279Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:32:24.779938Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: KIDINS220 were set to ",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:31:59.944855Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.131",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:31:22.511739Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.131",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive, 610357 to Spastic paraplegia 30, autosomal recessive, 610357; Mental retardation, autosomal dominant 9, 614255, AD; Neuropathy, hereditary sensory, type IIC, 614213",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:30:44.224260Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.130",
"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": "2019-05-13T14:30:21.158260Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.129",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: KIF1A were set to 21487076; 22258533",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:30:04.055070Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.128",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:29:33.665542Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.128",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: KCNA2 were set to ",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:29:23.501705Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.127",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:29:13.333581Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.126",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:28:56.457553Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.126",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF5A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:28:38.690146Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.125",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:28:10.769913Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.125",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: L1CAM were set to 7920659",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:27:40.601487Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.124",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: NIPA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:27:31.448574Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.123",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: NIPA1 were changed from Spastic paraplegia 6,autosomal dominant, 600363 to Spastic paraplegia 6, autosomal dominant, 600363",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:27:20.402942Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.122",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: NIPA1 were set to 15711826; 14508710",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:26:27.172791Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.121",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: NKX6-2 were set to 15601927; 28575651",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:24:08.642148Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.120",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: MARS2 were set to ",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:24:02.080559Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.119",
"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": "2019-05-13T14:23:40.352015Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.118",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: MTPAP were set to ",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:23:21.034456Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.117",
"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": "2019-05-13T14:22:42.274455Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.116",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: PNPLA6 were set to 18313024",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:22:06.211057Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.115",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:21:19.093152Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.114",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: REEP1 were set to 16826527",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:20:57.612102Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.113",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: REEP2 were changed from ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625 to Spastic paraplegia 72, autosomal dominant,615625; Spastic paraplegia 72, autosomal recessive, 615625",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:20:39.787202Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.112",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: REEP2 were set to 24388663",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:20:15.584915Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.111",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: RTN2 were set to 22232211",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:19:51.468127Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.110",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SACS were set to ",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:18:47.905473Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.109",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SLC16A2 were set to 12871948",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:17:41.386483Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.108",
"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": "2019-05-13T14:16:07.480139Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.107",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SPART were changed from Troyer syndrome, 275900 to Troyer syndrome, 275900; Spastic paraplegia 20",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:15:30.045406Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.106",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SPART were set to 12134148",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:14:25.784222Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.105",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SPAST were set to Hazan et al (1999)",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:12:06.266326Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.104",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SPAST were changed from Spastic paraplegia 4, autosomal dominant to Spastic paraplegia 4, autosomal dominant, 182601",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:11:03.019948Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.103",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SPG21 were set to 14564668",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:08:51.571370Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.102",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: TFG were set to Beetz et al. (2013); 23479643; 27492651; 27601211",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:07:46.868687Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.101",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: VAMP1 were set to 22958904",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:05:23.574134Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.100",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: UCHL1 were set to ",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:04:48.590406Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.99",
"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": "2019-05-13T14:04:37.683414Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.98",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: VPS37A were changed from Spastic paraplegia 53, autosomal recessive to Spastic paraplegia 53, 614898, AR",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:03:44.624322Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.97",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: CPT1C was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:03:29.226024Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.96",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CPT1C were set to ",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:02:49.334903Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.95",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: POLR3A were set to 25655951; 21855841",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:02:19.048232Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.94",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ARL6IP1 were changed from to Spastic paraplegia",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:02:01.029875Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.93",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ARL6IP1 were set to Novarino et al. (2014)",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:01:16.872930Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.92",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CDK16 were changed from Intellectual disability and spastic paraplegia to Intellectual disability and spastic paraplegia, x-linked",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-05-13T14:00:40.479924Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.91",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: HSPD1 were set to 17420924; 10677329",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T13:59:36.510752Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.90",
"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": "2019-05-13T13:59:26.307298Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.89",
"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": "2019-05-13T13:58:44.869440Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.88",
"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": "2019-05-13T13:58:34.877866Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.87",
"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": "2019-05-13T13:57:44.415942Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.86",
"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": "2019-05-13T13:57:22.627208Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.85",
"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": "2019-05-13T13:56:57.113980Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.84",
"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": "2019-05-13T13:56:40.677541Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.83",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CCT5 were set to ",
"entity_name": "CCT5",
"entity_type": "gene"
},
{
"created": "2019-05-13T13:53:26.721534Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.82",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLC4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2019-05-13T13:31:11.426563Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.81",
"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": "2019-05-13T13:30:45.690273Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.80",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: PCDH12 were set to 27164683",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2019-05-13T13:30:22.674276Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.79",
"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": "2019-05-13T13:29:03.591660Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.78",
"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": "2019-05-13T13:28:26.074778Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.77",
"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": "2019-05-13T09:51:53.370532Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC2A1.",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:51:51.405217Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ARL6IP1.",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:51:51.249757Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to UBAP1.",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:51:50.797404Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ENTPD1.",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:51:50.650752Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GAD1.",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:51:50.497626Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to WDR48.",
"entity_name": "WDR48",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:51:50.345174Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ARSI.",
"entity_name": "ARSI",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:51:50.190680Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CCT5.",
"entity_name": "CCT5",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:51:50.042881Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KLC4.",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:51:49.897921Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MARS.",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:51:49.747014Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PCDH12.",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:51:49.594867Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PGAP1.",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:51:49.444138Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RAB3GAP2.",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:51:49.295817Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to USP8.",
"entity_name": "USP8",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:51:49.133136Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ZEB2.",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:51:48.975678Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ZFYVE27.",
"entity_name": "ZFYVE27",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:51:10.387131Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:10.258733Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:10.129937Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:10.002189Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:09.873436Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:09.734569Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:09.595629Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:09.462903Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:09.330738Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:09.201771Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:09.059112Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:08.916224Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:08.771994Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:08.618678Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:08.462464Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:08.310324Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:08.146351Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:07.991037Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:07.839786Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:07.687797Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:07.541896Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:07.395094Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:07.241521Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:07.088404Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:06.930460Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:06.781424Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:06.632449Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:06.469355Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:06.179084Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:06.033409Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:05.897658Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:05.761843Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:05.618332Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:05.478306Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:05.348674Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:05.214793Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:05.070215Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:04.942768Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:04.809949Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to KCNA2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:51:04.667093Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:04.517584Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:04.359959Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:04.231028Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:04.090601Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:03.954335Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:03.821822Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:03.684487Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:03.546050Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:03.401350Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:03.253152Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:03.107274Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:02.961361Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:02.809611Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:02.594972Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:02.441494Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:02.276020Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:02.123309Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:01.971024Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:01.820537Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:01.659252Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:01.483476Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:01.328331Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:01.173065Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:01.012776Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:00.858519Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SLC2A1.",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:51:00.700925Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:00.538065Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:00.356366Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:00.190827Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:51:00.039781Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:59.896187Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:59.753798Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:59.623405Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:59.468938Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:59.332180Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:59.191113Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to UCHL1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:50:59.054038Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:58.904451Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to CPT1C.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:50:58.761287Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to POLR3A.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:50:58.621026Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ARL6IP1.",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-05-13T09:50:58.472039Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:58.331431Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:58.172543Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:58.000298Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:57.843744Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:57.682045Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:57.529134Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:57.383804Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:57.241360Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:57.079084Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:56.930464Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:56.769083Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:56.626187Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:56.472610Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:56.305783Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-13T09:50:56.148117Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.75",
"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": "2019-05-10T13:19:37.762309Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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; Current diagnostic: yes",
"entity_name": "ZFYVE27",
"entity_type": "gene"
},
{
"created": "2019-05-10T13:13:54.332210Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T13:09:42.398763Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T13:06:43.501403Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T13:00:13.874558Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T12:55:34.285955Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T12:52:40.285700Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T12:46:42.372097Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T12:40:43.133964Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T12:20:25.521326Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T12:16:29.835207Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T12:06:50.986255Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T12:02:46.173114Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T11:58:04.629351Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T11:54:44.812249Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:52:09.214036Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T11:41:44.981122Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T11:40:47.670264Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T11:28:39.053607Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T11:12:55.646797Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ZFYVE26: Rating: ; Mode of pathogenicity: None; Publications: 18394578, 19805727; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:10:53.799515Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T11:05:22.293870Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29735986, 28007905, 23359680; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:50:18.793727Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:49:05.263868Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T10:37:48.404373Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:34:37.517103Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T10:28:59.078327Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T10:25:12.950624Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T10:05:13.382409Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T10:04:05.207609Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T09:59:29.439914Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T09:58:35.108155Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T09:56:29.056067Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2019-05-10T09:47:47.136644Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: SPART: Rating: GREEN; 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": "2019-05-10T09:45:26.608057Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T09:35:26.078075Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T09:28:36.397462Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2019-05-10T09:26:40.586366Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14661163, 19194886; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-05-10T09:19:25.937810Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-05-10T09:17:36.663282Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T09:16:04.045199Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T09:14:14.060087Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: REEP2: Rating: GREEN; 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": "2019-05-10T08:18:17.280700Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T08:04:15.929143Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: PSEN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-05-10T07:54:23.222678Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T07:52:43.386043Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T07:49:43.211607Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T07:39:27.132627Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T07:33:49.715710Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T07:23:09.567650Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-10T07:17:57.647105Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: KIF1C: Rating: GREEN; 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": "2019-05-09T18:22:32.639090Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-09T18:21:03.140612Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: NT5C2: Rating: GREEN; 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": "2019-05-09T18:18:43.813932Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575651, 15601927, 29388673; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-05-09T18:14:27.486508Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-09T18:06:11.740795Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-09T18:03:42.328004Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: L1CAM: Rating: GREEN; 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": "2019-05-09T17:58:34.871202Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-09T17:57:01.015411Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-09T17:43:38.451157Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-09T17:38:01.173452Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-09T17:30:47.103234Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: None; Publications: 27005418, 29667355; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-05-09T17:28:31.506735Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: GJC2: Rating: RED; Mode of pathogenicity: None; Publications: 19056803; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-05-09T17:17:19.685484Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-09T17:02:22.393779Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:58:24.164683Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"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": "2019-05-09T16:54:51.367194Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ZFYVE26: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.354037Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: WDR45B: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.341821Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: WASHC5: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.329171Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VPS37A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.316377Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VAMP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.303699Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: UCHL1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.291339Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TUBB4A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.279407Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TFG: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.267115Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TECPR2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.254827Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SPG7: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.241605Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SPG21: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.228992Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SPG11: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.215669Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SPAST: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.202474Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SPART: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.189279Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLC33A1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.175608Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLC25A46: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.159460Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLC1A4: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.145035Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLC16A2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.131487Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SERAC1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.117120Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SACS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.102648Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RTN2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.089270Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: REEP2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.076830Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: REEP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.063954Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PSEN1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.051827Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: POLR3A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.039571Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PNPLA6: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.026545Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PLP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:51.012534Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: OPA3: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.999588Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NT5C2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.986208Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NKX6-2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.973013Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NIPA1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.959942Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MTPAP: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.947209Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MARS2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.935179Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MAG: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.922226Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: LYST: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.908851Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: L1CAM: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.895115Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KIF5A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.881495Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KIF1C: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.854847Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KIF1A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.842123Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KIDINS220: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.828549Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KDM5C: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.813895Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KCNA2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.801290Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: IBA57: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.788249Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HSPD1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.775499Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HACE1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.761974Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GJC2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.741453Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GCH1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.723084Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GBA2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.696684Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FARS2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.680988Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FA2H: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.667788Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ERLIN2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.654564Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ERLIN1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.639613Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DSTYK: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.627545Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DDHD2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.615220Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DDHD1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.602009Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DARS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.585318Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CYP7B1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.570034Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CYP2U1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.556091Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CYP27A1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.543577Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CPT1C: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.530717Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CDK16: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.518416Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CAPN1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.505999Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: C19orf12: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.492519Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: C12orf65: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.476024Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: BSCL2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.462791Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: B4GALNT1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.449590Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ATP13A2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.436007Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ATL1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.423401Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ARG1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.409293Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP5Z1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.394979Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP4S1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.378784Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP4M1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.364659Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP4E1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.351610Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP4B1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.337519Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AMPD2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.323515Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ALS2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.296497Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ALDH18A1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.280819Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AIMP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.267093Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AFG3L2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.253858Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ADAR: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:54:50.238751Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ABCD1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:53:22.033579Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-05-09T16:48:36.593362Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"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": "2019-05-09T12:58:45.027292Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"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": "2019-05-09T12:58:13.237444Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2019-05-09T12:56:40.355447Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21330303, 21796390, 29691679; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2019-05-09T12:16:52.024476Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ERLIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-05-09T12:10:19.843968Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-05-09T12:03:31.888018Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"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": "2019-05-09T11:12:03.126075Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"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": "2019-05-09T11:09:59.345771Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-05-09T11:06:12.398855Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"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": "2019-05-09T11:03:19.449730Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: CYP2U1: Rating: GREEN; 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": "2019-05-09T10:53:38.217434Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"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": "2019-05-08T16:45:27.728796Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"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": "2019-05-08T16:38:00.646520Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"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": "2019-05-08T16:22:57.834079Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24424123; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-05-03T16:42:32.143725Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: BSCL2: Rating: GREEN; 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": "2019-05-03T16:34:53.025886Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"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",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-05-03T16:32:48.164040Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"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": "2019-05-03T16:27:53.500608Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"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": "2019-05-03T16:24:53.547929Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-05-03T16:21:48.115059Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"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": "2019-05-03T16:14:47.593715Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: AP4S1: Rating: GREEN; 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": "2019-05-03T16:13:40.869934Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: AP4M1: Rating: GREEN; 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": "2019-05-03T16:12:10.900504Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: AP4E1: Rating: GREEN; 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": "2019-05-03T16:09:58.985870Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: AP4B1: Rating: GREEN; 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": "2019-05-03T15:55:14.109290Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"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": "2019-05-03T15:31:04.201419Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ALS2: Rating: GREEN; 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": "2019-05-03T15:28:17.859026Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"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": "2019-05-03T15:21:08.334546Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21092922, 30477741, 30486714; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-05-03T13:24:16.341092Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17101804, 22022284, 27165006; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-05-03T13:07:50.835047Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Nick Beauchamp",
"item_type": "entity",
"text": "reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 25243380, 25604658; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-05-03T12:49:56.015573Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"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": "2019-05-03T09:08:31.851513Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: SLC33A1 as Amber List (moderate evidence)",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-05-03T09:08:31.844263Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.73",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: slc33a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-05-02T17:01:16.753081Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: VPS37A as Red List (low evidence)",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-05-02T17:01:16.745039Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: vps37a has been classified as Red List (Low Evidence).",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-05-02T17:01:05.850940Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.71",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VPS37A: Red rating on Hereditary spastic paraplegia panel 1.198\r\n\r\nComment when marking as ready: single founder Arab mutation further evidence required. A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. Zivony-Elboum Y1, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC.\r\nemma baple (Genomics England Curator), 10 May 2016. Submitted Red rating",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:59:14.917358Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.71",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VAMP1: Red rating on Hereditary spastic paraplegia panel 1.198\r\n\r\nAdded 'founder effect' tag based on Emma Baple's review of PMID:22958904.\r\nRebecca Foulger (Genomics England curator), 24 Oct 2017\r\n\r\nComment on mode of inheritance: Monoallelic mode of inheritance supported by OMIM.\r\nRebecca Foulger (Genomics England curator), 12 Oct 2017\r\n\r\nComment when marking as ready: Newfoundland founder mutation described. Further evidence required Bourassa, C. V., Meijer, I. A., Merner, N. D., Grewal, K. K., Stefanelli, M. G., Hodgkinson, K., Ives, E. J., Pryse-Phillips, W., Jog, M., Boycott, K., Grimes, D. A., Goobie, S., Leckey, R., Dion, P. A., Rouleau, G. A. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. Am. J. Hum. Genet. 91: 548-552, 2012\r\nemma baple (Genomics England Curator), 10 May 2016",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:58:43.261609Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.71",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: VAMP1 as Red List (low evidence)",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:58:43.252491Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.71",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: vamp1 has been classified as Red List (Low Evidence).",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:57:54.723215Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: TFG as Amber List (moderate evidence)",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:57:54.717113Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: tfg has been classified as Amber List (Moderate Evidence).",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:57:42.051701Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.69",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: TFG were set to Beetz et al. (2013)",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:56:57.948179Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.68",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TFG: Amber rating on Hereditary spastic paraplegia panel 1.198\r\n\r\nBeetz (2013, 23479643) Initial report. Exome study, 2 sibs with early-onset spastic paraplegia, optic atrophy, and neuropathy, with hom c.316C>T (p.R106C). In vitro defect shown in self-assembly. Harlalka (2016, 27492651) also described a c.317G>A (p.R106H) homozygous family, and proposed a founder origin for the c.316C>T variant, as well as a c.316_317 hotspot. further mt invitro studies supportive evidence. Elsayed (2016, 27601211) implicated TGF in one family; homozygous c.64C>T (p.(Arg22Trp) with HSP In Sheffield diagnostic HSP panel\r\nChris Buxton (North Bristol NHS Trust), 27 Nov 2018\r\n\r\nComment when marking as ready: Single Indian family currently described in association with HSP\r\nemma baple (Genomics England Curator), 10 May 2016",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:52:51.304803Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.68",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TECPR2: Red rating on Hereditary spastic paraplegia panel 1.198\r\n\r\nOz-Levi (2012, 23176824 ), ?founder fs deletion in Jewish Bukharian families with HSP-related phenotype. Some functional studies supporting an association. Zhu (2015, 25590979), different homozygous fs deletion. Pt had overlapping manifestations with SPG49. No functional studies. Currently included in Sheffield's HSP panel\r\nChris Buxton (North Bristol NHS Trust), 27 Nov 2018. Submitted Amber rating.\r\n\r\nPMID:26542466 (2016) report 3 additional patients from unrelated non-Bukharian families, harboring two novel variants (c.1319delT, c.C566T) in TECPR2, suggesting that variants are not restricted to Bukharian origin.\r\nRebecca Foulger (Genomics England curator), 31 Oct 2017\r\n\r\nComment when marking as ready: limited evidence founder Jewish mutation\r\nemma baple (Genomics England Curator), 10 May 2016",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:52:11.530966Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.68",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: TECPR2 as Red List (low evidence)",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:52:11.525058Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.68",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: tecpr2 has been classified as Red List (Low Evidence).",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:50:30.646718Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.67",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLC33A1: Amber rating on Hereditary spastic paraplegia panel 1.198\r\n\r\nhelen kingston (CMFT NHS Foundation Trust, Manchester)\r\n5 Nov 2017 Submitted Green review.\r\n\r\nComment when marking as ready: Very clear association of autosomal recessive mutations with congenital cataracts, hearing loss, and neurodegeneration. Limited evidence currently for HSP\r\nemma baple (Genomics England Curator), 10 May 2016 \r\n\r\nA mutation in this gene has been described in one chinese family affected by pure HSP, showing autosomal dominant inheritance with reduced penetrance. A subsequent screen of 220 pure HSP patients of mostly caucasian origin failed to identify mutations with this gene.\r\nArianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square), 13 Jan 2016. Submitted Amber rating",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:48:24.567946Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.67",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: SLC33A1 as Red List (low evidence)",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:48:24.560016Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.67",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: slc33a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:45:42.704461Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.66",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLC25A46: Green rating on Hereditary spastic paraplegia panel 1.198\r\nAssociated with phenotype in OMIM, not in G2P. At least 10 variants reported\r\nSarah Leigh (Genomics England Curator), 15 Sep 2017",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:44:24.339747Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.66",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: REEP2 as Amber List (moderate evidence)",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:44:24.333262Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.66",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: reep2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:44:14.177994Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.65",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: REEP2: Amber rating on Hereditary spastic paraplegia panel 1.198\r\n\r\nRoda (2017, 28491902). de novo REEP2 missense (c.119T > G, p.Met40Arg) at a highly-conserved residue very close to another known pathogenic missense change. No functional studies.\r\nChris Buxton (North Bristol NHS Trust), 27 Nov 2018. Submitted Amber rating.\r\n\r\nComment on list classification: changed from red to amber based on upon two families\r\nLouise Daugherty (Genomics England Curator), 30 Nov 2017\r\n\r\nKnown to be a movement disorder associated gene. Associated with phenotype in OMIM. At least 3 variants reported in 2 large unrelated families, Autosomal dominant inheritance was reported in one family and autosomal recessive inheritance in another. Observed clinical phenotype includes difficulty in walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. Cognition, speech, and ocular function are normal (summary by Esteves et al., PMID:24388663)\r\nLouise Daugherty (Genomics England Curator), 27 Nov 2017",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:42:15.257983Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.65",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PSEN1: Red rating on Hereditary spastic paraplegia panel 1.198.\r\n\r\nhelen kingston (CMFT NHS Foundation Trust, Manchester)\r\n5 Nov 2017 Submitted Green rating.\r\n\r\nComment when marking as ready: Given the primary association is with dementia and this is gene is included on the associated panel we have excluded it here.\r\nemma baple (Genomics England Curator), 10 May 2016. Submitted Red rating.",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:40:24.257455Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.65",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: PSEN1 as Red List (low evidence)",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:40:24.252142Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.65",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: psen1 has been classified as Red List (Low Evidence).",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:38:06.817393Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.64",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: POLR3A as Green List (high evidence)",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:38:06.811722Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.64",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: polr3a has been classified as Green List (High Evidence).",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:37:59.911193Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.63",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: POLR3A as Amber List (moderate evidence)",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:37:59.904434Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.63",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: polr3a has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:37:50.165817Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: POLR3A: Red review in file submitted by James Polke but comment denoted Green rating. Need to confirm Green rating so currently rated as Amber.",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:33:08.391816Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MTPAP: Amber rating on Hereditary spastic paraplegia panel 1.198\r\n\r\n2 entries on HGMD Pro Crosby (2010, 20970105); variant proposed as cause of spastic paraplegia in Amish population as founder mutation. p.N478D: Slowly progressive autosomal-recessive neurodegenerative condition, the key features of which are cerebellar ataxia, spastic paraparesis, dysarthria, optic atrophy, learning difficulties. Functional studies showed loss of polyadenylation of mitochondrial transcripts Additional functional characterisation in Wilson (2014, 25008111) Al-Shamsi (2016, 27391121) Biparental, homozygous c.1468G > T (p.V490L). 2 sibs with developmental delay and regression at 8 months of age, central hypotonia, short stature, failure to thrive, cerebellar atrophy, absence-like episodes, and hip dislocation. Parents were heterozygous. no functional studies.\r\nChris Buxton (North Bristol NHS Trust), 27 Nov 2018 Submitted Amber rating",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:30:57.480708Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: MTPAP as Amber List (moderate evidence)",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:30:57.474396Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: mtpap has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:25:39.330995Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: MARS2 as Amber List (moderate evidence)",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:25:39.323527Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: mars2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:23:27.453914Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.60",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MARS2: Amber rating on Hereditary spastic paraplegia panel 1.198\r\n\r\n\r\nBayat (2012, 22448145) Approx 300b deletion /?duplication/rearrangement, Complex genomic MARS2 rearrangements identified in 54 affected French-Canadian cases belonging to 38 families with a mean age of onset of 24.4 (2–59). Lots of in vivo studies. No HGMD/Pubmed reports of MARS2 rearrangements since this paper, but probably inst being widely tested and if so, large rearrangements aren't particularly amenable to ngs\r\nChris Buxton (North Bristol NHS Trust), 27 Nov 2018 Submitted Green review.\r\n\r\nhelen kingston (CMFT NHS Foundation Trust, Manchester) Submitted Green review.",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:19:16.207232Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.60",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MAG: Amber rating on Hereditary spastic paraplegia panel 1.198\r\n\r\nComment on list classification: Updated rating from Grey to Amber: Gene added and rated red by Chris Buxton (Bristol NHS) based on 1 family in PMID:24482476. One additional family reported in PMID:26179919 but require at least one further case for diagnostic rating.\r\nRebecca Foulger (Genomics England curator), 18 Dec 2018\r\n\r\nIn 3 siblings with AR spastic paraplegia born of consanguineous Palestinian parents, Lossos et al. (2015, PMID:26179919) identified a homozygous c.399C-G transversion in the MAG gene (S133R).\r\nRebecca Foulger (Genomics England curator), 18 Dec 2018\r\n\r\nPMID:24482476 (Novarino et al 2014) identified MAG as a HSP candidate gene based on the HSPome (network analysis). In 2 affected sisters from a consanguineous family (family 1226) with AR spastic paraplegia-75, PMID:24482476 identified homozygosity for a c.1288T-G transversion in the MAG gene (C430G).\r\nRebecca Foulger (Genomics England curator), 18 Dec 2018\r\n\r\n1 family Novarino (2014, 24482476). Homozygous Cys430Gly with HSp phenotype. No other detail. 1 family. Limited evidence Diagnostic on Sheffield HSP panel Sources: Literature\r\nChris Buxton (North Bristol NHS Trust), 27 Nov 2018. Submitted Red rating.",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:18:31.790990Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.60",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: MAG as Amber List (moderate evidence)",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:18:31.784172Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.60",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: mag has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:15:20.624478Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.59",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: LYST: Added comment: Amber rating on Hereditary spastic paraplegia panel 1.198\r\n\r\nComment on publications: PMIDs:25519960 and 25519961 are in Japanese.\r\nRebecca Foulger (Genomics England curator), 8 Jan 2019\r\n\r\nComment on list classification: Updated rating from Red to Amber. Gene added to panel by Chris Buxton (Bristol NHS) based on one family in PMID:24521565. In addition, progressive spastic paraparesis seen in affected siblings in PMID:26307451, and PMIDs 25519960 and 25519961 describe LYST as a potential HSP locus. Further cases required for a diagnostic rating.\r\nRebecca Foulger (Genomics England curator), 8 Jan 2019\r\n\r\nPMID:26307451 (Desai et al 2016) report 3 affected siblings with the late-onset form of CHS, and phenotypes including progressive spastic paraparesis.\r\nRebecca Foulger (Genomics England curator), 8 Jan 2019\r\n\r\nPMID:24521565 (Shimazaki et al 2014) include 2 patients in a Japanese family with parents who are first cousins. They detected a homozygous missense variant (c.4189T>G, p.F1397V) in the LYST gene. The patients had adult Chediak-Higashi syndrome (CHS) presenting spastic paraplegia with cerebellar ataxia and neuropathy.\r\nRebecca Foulger (Genomics England curator), 8 Jan 2019\r\n\r\nComment on list classification: This gene is awaiting curator evaluation and rating.\r\nSarah Leigh (Genomics England Curator), 19 Dec 2018\r\n\r\nShimazaki (2014, 24521565), homozygous LYST (c.4189T>G, p.F1397V). Gene predominantly associated with Chediak-Higashi syndrome. one publication describing a HSP like phenotype. Diagnostic on Sheffield HSP panel Sources: Literature\r\nChris Buxton (North Bristol NHS Trust), 28 Nov 2018; Changed publications: 25519960, 25519961, 24521565, 26307451, 25519960, 25519961",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:14:09.799441Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.59",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: LYST as Amber List (moderate evidence)",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:14:09.793365Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.59",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: lyst has been classified as Amber List (Moderate Evidence).",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:12:47.032619Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.58",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KIF1C: Amber rating on Hereditary spastic paraplegia panel 1.198\r\n\r\nMore familailes listed on OMIM (Nov 2018): In affected members of 2 unrelated families with SPAX2, Dor et al. (2014) identified 2 different homozygous mutations in the KIF1C gene (R731X, 603060.0001 and R169W, 603060.0002). The mutations were found using a combination of homozygosity mapping and whole-exome sequencing. Functional studies were not performed. In 2 consanguineous families with SPAX2, Novarino et al. (2014) identified homozygous mutations in the KIF1C gene: the R731X mutation previously identified by Dor et al. (2014) and a splice site mutation (603060.0003). Novarino et al. (2014) also identified a homozygous deletion of exons 14-18 of the KIF1C gene (603060.0004) in affected members of the Moroccan family with SPAX2 reported by Bouslam et al. (2007).\r\nChris Buxton (North Bristol NHS Trust), 26 Nov 2018 Amber rating submitted\r\n\r\nOne patient in Gel cohort found to have compound heterozygous VUS but uncertain significance. To review literature when panel next reviewed\r\nAlice Gardham (Genomics England), 19 Jan 2017\r\n\r\nComment when marking as ready: Still only limited evidence\r\nemma baple (Genomics England Curator), 10 May 2016",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:11:32.893977Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.58",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: KIF1C as Amber List (moderate evidence)",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:11:32.887080Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.58",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: kif1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:09:39.526311Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.57",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KDM5C: Amber rating on Hereditary spastic paraplegia panel 1.198\r\n\r\nComment on list classification: Updated rating from Red to Amber. Gene added to panel and rated Red by Chris Buxton (Bristol NHS). MIM:300534 is characterized by ID, progressive spastic paraplegia, short stature, microcephaly, and dysmorphic facial appearance. Chris Buxton reports 2 families from the literature (PMIDs10982473; 15586325; 26919706) with KDM5C variants and spastic paraplegia symptoms. Therefore Amber awaiting further cases.\r\nRebecca Foulger (Genomics England curator), 8 Jan 2019\r\n\r\nPMID:26919706 investigated a family of 3 boys with ID and among them identified two different variants in KDM5C: Two affected boys have c.633delG and the other has c.631delC. The boys presented with severe DD, progressive spasticity (predominantly in the lower limbs), epilepsy and subclinical hypothyroidism. The mother has two different frameshift mutations: a heterozygous germline mutation, c.631delC, and a low-prevalence somatic mutation, c.633delG.\r\nRebecca Foulger (Genomics England curator), 8 Jan 2019\r\n\r\nPMID:15586325 (Jensen 2005) identifed a L731F variant in 4 members of a family with X-linked complicated spastic paraplegia previously described by Claes et al (2000, PMID:10982473).\r\nRebecca Foulger (Genomics England curator), 8 Jan 2019\r\n\r\nComment on list classification: This gene is awaiting curator evaluation and rating.\r\nSarah Leigh (Genomics England Curator), 19 Dec 2018\r\n\r\nClaes (2000, 10982473) reported candidate HSP locus Xp21.1-Xq21.3. Jensen (2005, 15586325) identified as JARID1C(syn)/KDM5C gene: c.2191C>T Leu731Phe. 4 males in same pedigree: two generations present with severe MR, slowly progressive spastic paraplegia, facial hypotonia, and maxillary hypoplasia. Additional features are aggressive behavior and strabismus; Fujita (2016, 26919706). Two different fs deletion variants. maternal reversion mechanims? Progressive spasticity component to phenotype. Currently diagnostic on Sheffield's HSP panel Sources: Literature\r\nChris Buxton (North Bristol NHS Trust), 27 Nov 2018 Red rating submitted",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:08:40.012139Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.57",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: KDM5C as Amber List (moderate evidence)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:08:40.005504Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.57",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: kdm5c has been classified as Amber List (Moderate Evidence).",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:04:17.935570Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: IBA57: Amber rating on Hereditary spastic paraplegia panel 1.198\r\n\r\nComment on list classification: Kept rating as Amber following clinical review by Helen Brittain, who notes that it is possible that the varied phenotypes are part of the spectrum of presentations within IBA57 regarding its mitochondrial function (the more commonly reported recessive phenotype of mitochondrial dysfunction encompasses spasticity in several patients). IBA57 is green on the 'Mitochondrial disorders' panel which is the better route for detecting this broader phenotype. Ideally, further cases with an understanding of the spectrum of pathogenic variants and detailed phenotypic information will help in being confident about inclusion on this HSP panel.\r\nRebecca Foulger (Genomics England curator), 2 Mar 2019\r\n\r\nComment on list classification: Updated rating from Grey to Amber: Gene added and rated Red by Chris Buxton (Bristol NHS) based on 1 family in PMID:25609768. 2 additional families in PMID:30258207 (2018) but phenotype is variable and 2 Jewish brothers with same compound het variants have different symptoms. Therefore rated Amber awaiting clinical feedback.\r\nRebecca Foulger (Genomics England curator), 18 Dec 2018\r\n\r\nPMID:30258207 (Hamanaka et al, 2018) performed whole-exome sequencing in 2 unrelated families (Sepharadi Jewish and Japanese) with leukodystrophy. The 29-year-old Sepharadi Jewish male had clinically asymptomatic leukodystrophy. His 19-year-old younger brother, with the same compound heterozygous IBA57 variants, had a similar clinical course until 7 years of age when he developed a rapidly progressive spastic paraparesis following a febrile illness. A 7-year-old Japanese girl had developmental regression, spastic quadriplegia, and abnormal periventricular white matter. Therefore HSP symptoms amongst the individuals but phenotypes are very varied.\r\nRebecca Foulger (Genomics England curator), 18 Dec 2018\r\n\r\nIn affected members of a large consanguineous Arab family with AR spastic paraplegia, Lossos et al. (2015, PMID:25609768) identified a homozygous splice site variant in IBA57.\r\nRebecca Foulger (Genomics England curator), 18 Dec 2018\r\n\r\nLossos (2015, 25609768). Homozygous donor splice-site mutation in the IBA57. mRNA studies done, some protein studies support pathogenicity. 1 family, limited evidence. Sources: Literature Provided in Sheffield Lab diagnostic HSP panel\r\nChris Buxton (North Bristol NHS Trust), 27 Nov 2018. Red rating submitted.",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:03:33.510184Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: IBA57 as Amber List (moderate evidence)",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:03:33.504720Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: iba57 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:01:41.827100Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GJC2: Red rating on Hereditary spastic paraplegia panel 1.198\r\n\r\nLots of accounts linking this gene with \"Pelizaeus-Merzbacher-like\" disorder. Needs more expert curation in case PLP is a ddx for HSP, but given that PLP1 isnt in HSP panel this looks unlikely\r\nChris Buxton (North Bristol NHS Trust), 27 Nov 2018. Amber rating submitted.\r\n\r\nThis gene is on the Hereditary Spastic Paraplagia (HSP) NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual: \"GJC2 encodes a gap junction protein which plays a key role in central myelination and is involved in peripheral myelination in humans. Mutations in this gene have been associated with autosomal recessive Pelizaeus-Merzbacher-like disease-1 (SPG44).\" It is a confirmed DD gene for spastic paraplegia 44, with monoallelic inheritance (OMIM states recessive inheritance).\r\nEllen McDonagh (Genomics England Curator), 14 Jun 2016\r\n\r\nOnly a single family described with this phenotype, many more cases with the above phenotypes\r\nemma baple (Genomics England Curator), 7 Feb 2016 Red rating submitted",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:00:51.055453Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: GJC2 as Red List (low evidence)",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-05-02T16:00:51.046150Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: gjc2 has been classified as Red List (Low Evidence).",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-05-02T15:59:00.659176Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GCH1: Amber rating on Hereditary spastic paraplegia panel 1.198\r\n\r\nComment on list classification: Kept rating as Amber following clinical review from Helen Brittain- Amber rating is appropriate for now, based upon the two cases and some phenotypic queries.\r\nRebecca Foulger (Genomics England curator), 2 Mar 2019\r\n\r\nComment on mode of inheritance: Both literature cases (PMID:24509643; 21935284) are heterozygous, so have kept MOI as Monoallelic for now while gene is rated Amber. Note that OMIM displays AR and AD inheritance for Dystonia, DOPA-responsive, with or without hyperphenylalaninemia (MIM:128230).\r\nRebecca Foulger (Genomics England curator), 28 Jan 2019\r\n\r\nComment on list classification: Updated rating from Grey to Amber awaiting feedback from clinical team. 2 literature cases of HSP phenotype in PMIDs:24509643,21935284 both of which involved previous misdiagnosis of DRD/cerebral palsy.\r\nRebecca Foulger (Genomics England curator), 18 Dec 2018\r\n\r\nPMID:21935284 (Lee et al. 2011) report a novel initiation codon mutation (c.1A>T; p.Met1Leu) in GCH1 in a patient with dopa-responsive dystonia (DRD) that had previously been mis-diagnosed as cerbral palsy.\r\nRebecca Foulger (Genomics England curator), 18 Dec 2018\r\n\r\nPMID:24509643 (Fan et al 2014) identified a heterozygous GCH1 variant (R216X) by WES in a patient presenting with progressive spastic paraplegia. The R216X variant had been previously reported as causal for dopa-responsive dystonia (MIM:128230), a phenotype that can resemble HSP.\r\nRebecca Foulger (Genomics England curator), 18 Dec 2018\r\n\r\nFan (2014, 24509643) het for nonsense variant previously associated with dopa-responsive dystonia. Authors observe that Dopa-responsive Dystonia can resemble HSP Lee (2011, 21935284), another example of DRD misdiagnosed as Cerebral palsy with GCH1 c.1A>T; p.Met1Leu missense Diagnostic on Sheffield HSP panel Sources: Literature\r\nChris Buxton (North Bristol NHS Trust), 27 Nov 2018. Green rating submitted.",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-05-02T15:58:08.135346Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: GCH1 as Amber List (moderate evidence)",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-05-02T15:58:08.129116Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: gch1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-05-02T15:55:23.015958Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: DSTYK as Red List (low evidence)",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-05-02T15:55:23.009723Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: dstyk has been classified as Red List (Low Evidence).",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-05-02T15:54:53.036117Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DSTYK: Red rating on Hereditary spastic paraplegia panel 1.198\r\n\r\nAdded 'Founder effect' tag based on haplotype analysis in Lee et al. (2017, PMID:28157540) which indicates a founder effect- the same deletion/insertion was identified in 3 unrelated families. At the time of curation, PMID:28157540 provides all evidence for the disease:gene association.\r\nRebecca Foulger (Genomics England curator), 11 May 2017\r\n\r\nIn affected members of 3 unrelated families of Middle Eastern descent with spastic paraplegia-23 (MIM:270750) Lee et al. (2017, PMID:28157540) identified a homozygous intragenic deletion/insertion in the DSTYK gene. The deletion segregated with the disorder in all 3 families. Haplotype analysis indicated a founder effect. The deletion insertion consisted of a 4-kb deletion associated with a 20-bp insertion, resulting in the removal of the last 2 exons of DSTYK (exons 12 and 13) along with part of the 3-prime untranslated region.\r\nRebecca Foulger (Genomics England curator), 11 May 2017",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-05-02T15:52:43.827492Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DARS: Comment on list classification: Updated rating from Red to Amber to match expert review and literature evidence. Added to panel and rated Amber by Chris Buxton (Bristol NHS). 2 patients in PMID:25527264 with onset in late adolescence who presented with subacute spastic paraplegia.\r\nRebecca Foulger (Genomics England curator), 8 Jan 2019\r\n\r\nWolf (2015, 25527264) report 3 patients with variants in DARS. One patient had typical infantile presentation but 2 patients with onset in late adolescence presented with subacute spastic paraplegia. Patient 1 was compound heterozygous for c.599C>G; p.Ser200Cys and c.830C>T; p.Ser277Phe. Patient 2 was homozygous for c.1277T>C; p.Leu426Ser, and patient 3 compound heterozygous for c.839A>T; p.His280Leu and c.1099G>C; p.Asp367His.\r\nRebecca Foulger (Genomics England curator), 8 Jan 2019\r\n\r\nAmber rating on Hereditary spastic paraplegia panel 1.198\r\n\r\nComment on list classification: This gene is awaiting curator evaluation and rating.\r\nSarah Leigh (Genomics England Curator), 19 Dec 2018\r\n\r\nHGMD: 15 missense, 1 ins associated with: Hypomyelination with brain stem and spinal cord involvement and leg spasticity: An autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation Taft (2013, 23643384) identiofied compound-heterozygous and homozygous DARS missense variants in 7 unrelated families with severe lower limb spasticity associated with leukoencephalopathy Phenotype expanded by Wolf (2015, 25527264) to later onset and subacute spastic paraplegia. Sources: Literature\r\nChris Buxton (North Bristol NHS Trust), 28 Nov 2018",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-05-02T15:52:14.269142Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: DARS as Amber List (moderate evidence)",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-05-02T15:52:14.263462Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: dars has been classified as Amber List (Moderate Evidence).",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-05-02T15:50:45.179251Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.51",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CDK16: Amber rating on Hereditary spastic paraplegia panel 1.198\r\nNot associated with phenotype in OMIM and as a possible G2P. At least 1 truncating variant identified in 4 affected members of a family with ID and spastic paraplegia, also present in 3 obligate female carriers but not in one unaffected male.\r\nSarah Leigh (Genomics England Curator), 19 Dec 2017",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-05-02T15:41:42.568180Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.51",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP5Z1: Rated Red on Hereditary spastic paraplegia panel 1.198. \r\n\r\nAmber rating : Hirst et al 2016 (4 families) since PanelApp review (2016)\r\nChris Buxton (North Bristol NHS Trust), 26 Nov 2018\r\n\r\nRed rating: Only one family described to date, further evidence required.\r\nemma baple (Genomics England Curator), 7 Feb 2016",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-05-02T15:39:23.960946Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.51",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: AP5Z1 as Amber List (moderate evidence)",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-05-02T15:39:23.952880Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.51",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ap5z1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-05-02T15:30:45.995015Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.50",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: AMPD2: Changed rating: AMBER",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-05-02T15:30:30.268996Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.50",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: AMPD2: Added comment: Red rating on Hereditary spastic paraplegia panel 1.198\r\n\r\nnonsense variant in single family in exome study. Low evidence\r\nChris Buxton (North Bristol NHS Trust), 27 Nov 2018\r\n\r\nComment when marking as ready: Single family only - more evidence required\r\nemma baple (Genomics England Curator), 8 Feb 2016; Changed rating: RED",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-05-02T13:23:21.479736Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.50",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: UBAP1 as Green List (high evidence)",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2019-05-02T13:23:21.474481Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.50",
"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": "2019-05-02T13:22:57.286688Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.49",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: UBAP1 was added\ngene: UBAP1 was added to Hereditary spastic paraplegia - childhood 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. \r\nSources: Literature \nSources: Literature",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2019-04-28T17:18:48.753835Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GCH1: Green 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": "2019-04-28T17:14:27.925151Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.907684Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.893715Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.877951Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.863544Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.848881Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.834265Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.818473Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.800476Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.782530Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.767139Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.752153Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.737165Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.720585Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.705156Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.690487Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.675064Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.658306Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.640844Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.625739Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.608518Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.591533Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.576802Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.559878Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.544127Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.528255Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.512914Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.491992Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.474723Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.455750Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.438896Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.422903Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.406873Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.388095Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.360251Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.342237Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.327076Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.308700Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.292727Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.278545Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.260622Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.244056Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-04-28T17:14:27.229998Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.212827Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: HSPD1: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-04-28T17:14:27.197498Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.181041Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.165591Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.145683Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.130861Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.112613Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.096801Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.082386Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.063676Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.045868Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.032037Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.017926Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:27.003881Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.989964Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.973081Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.958406Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.943909Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.929088Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: CAPN1: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-04-28T17:14:26.914808Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.898390Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.884026Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.868949Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.854248Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.839340Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.823762Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.809095Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.792588Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.778481Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.763529Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.749470Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.735572Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.720675Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.705787Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.691120Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.676086Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.661721Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T17:14:26.646122Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.48",
"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": "2019-04-28T16:49:10.271434Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.47",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: DARS as Green List (high evidence)",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:49:10.263436Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.47",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: dars has been classified as Green List (High Evidence).",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:48:47.753497Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.46",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode 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": "2019-04-28T16:48:39.350732Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.45",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: GCH1 as Green List (high evidence)",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:48:39.345453Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.45",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: gch1 has been classified as Green List (High Evidence).",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:48:29.299667Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.44",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: IBA57 as Green List (high evidence)",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:48:29.292180Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.44",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: iba57 has been classified as Green List (High Evidence).",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:48:01.496470Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.43",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: KDM5C as Green List (high evidence)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:48:01.490027Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.43",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: kdm5c has been classified as Green List (High Evidence).",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:47:50.597709Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: LYST as Green List (high evidence)",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:47:50.591956Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: lyst has been classified as Green List (High Evidence).",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:47:35.115825Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: MAG as Green List (high evidence)",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:47:35.110217Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: mag has been classified as Green List (High Evidence).",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:47:17.951396Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.40",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: REEP2 as Green List (high evidence)",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:47:17.945231Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.40",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: reep2 has been classified as Green List (High Evidence).",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:44:44.414536Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.39",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: VAMP1 as Green List (high evidence)",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:44:44.408484Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.39",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: vamp1 has been classified as Green List (High Evidence).",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:44:37.206315Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.38",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive, 615491, AR",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:44:27.705969Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.37",
"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": "2019-04-28T16:44:19.939190Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.36",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: UCHL1 as Green List (high evidence)",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:44:19.932105Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.36",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: uchl1 has been classified as Green List (High Evidence).",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:44:04.778477Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.35",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: TFG were changed from to ?Spastic paraplegia 57, autosomal recessive, 615658, AR; Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:43:54.521370Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: TFG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:43:47.456347Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: TFG as Green List (high evidence)",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:43:47.449317Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: tfg has been classified as Green List (High Evidence).",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:43:32.736146Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.32",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: TECPR2 as Green List (high evidence)",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:43:32.730263Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.32",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: tecpr2 has been classified as Green List (High Evidence).",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:43:24.090058Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SLC33A1 were changed from Spastic paraplegia 42, autosomal dominant, to Congenital cataracts, hearing loss, and neurodegeneration, 614482, AR; Spastic paraplegia 42, autosomal dominant",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:43:04.528350Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC33A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:42:56.594273Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: SLC33A1 as Green List (high evidence)",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:42:56.587948Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: slc33a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:42:37.904964Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: PSEN1 as Green List (high evidence)",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:42:37.899317Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: psen1 has been classified as Green List (High Evidence).",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:42:29.915000Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: MTPAP were changed from Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive to Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive; ?Spastic ataxia 4, autosomal recessive, 613672",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:42:13.474352Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: MTPAP as Green List (high evidence)",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:42:13.468072Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: mtpap has been classified as Green List (High Evidence).",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:42:04.324109Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: MARS2 were changed from Spastic ataxia 3, autosomal recessive to Spastic ataxia 3, autosomal recessive, 611390",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:41:51.763646Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: MARS2 as Green List (high evidence)",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:41:51.756990Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: mars2 has been classified as Green List (High Evidence).",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:41:43.195976Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1C were changed from Spastic ataxia 2,autosomal recessive to Spastic ataxia 2, autosomal recessive, 611302",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:41:29.864577Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: KIF1C as Green List (high evidence)",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:41:29.858947Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: kif1c has been classified as Green List (High Evidence).",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:41:18.916313Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: KCNA2 were changed from to hereditary spastic paraplegia and ataxia",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:41:08.029571Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: KCNA2 as Green List (high evidence)",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:41:08.023824Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: kcna2 has been classified as Green List (High Evidence).",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:40:57.839876Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: GJC2 were changed from Spastic paraplegia 44, autosomal recessive to Spastic paraplegia 44, autosomal recessive; Leukodystrophy, hypomyelinating,2, 608804, AR; Spastic paraplegia 44, autosomal recessive, 613206, AR; Lymphatic malformation 3, 613480, AD",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:40:47.911208Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:40:39.733216Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: GJC2 as Green List (high evidence)",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:40:39.725857Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: gjc2 has been classified as Green List (High Evidence).",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:40:28.460193Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: DSTYK as Green List (high evidence)",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:40:28.454061Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: dstyk has been classified as Green List (High Evidence).",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:40:15.339599Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.15",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: DSTYK were changed from Spastic paraplegia 23, 270750 to Spastic paraplegia 23, 270750; ongenital anomalies of kidney and urinary tract 1, 610805, AD; Spastic paraplegia 23, 270750, AR",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:40:04.775257Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSTYK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:39:42.631187Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: CPT1C as Green List (high evidence)",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:39:42.625502Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: cpt1c has been classified as Green List (High Evidence).",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:39:33.975668Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CPT1C were changed from to ?Spastic paraplegia 73, autosomal dominant, 616282, AD",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:39:23.470729Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: CPT1C was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:39:10.607674Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: AP5Z1 as Green List (high evidence)",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:39:10.601894Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ap5z1 has been classified as Green List (High Evidence).",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:39:02.344848Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: AMPD2 as Amber List (moderate evidence)",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:39:02.339104Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ampd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:36:57.257324Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: VPS37A as Green List (high evidence)",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:36:57.247553Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: vps37a has been classified as Green List (High Evidence).",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:34:24.445977Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.7",
"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": "2019-04-28T16:22:23.502911Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: PPP2R2B_CAG: 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.",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2019-04-28T16:22:12.123048Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: HTT_CAG: 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.",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2019-04-28T16:21:49.934525Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: FXN_GAA: 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.",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2019-04-28T16:21:34.375326Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: CACNA1A_CAG: 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.",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2019-04-28T16:21:23.665850Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: ATXN7_CAG: 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.",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2019-04-28T16:21:12.693638Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: ATXN3_CAG: 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.",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2019-04-28T16:21:03.409745Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: ATXN2_CAG: 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.",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2019-04-28T16:20:49.245033Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: ATXN10_ATTCT: 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.",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2019-04-28T16:20:27.049040Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: ATXN1_CAG: 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.",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2019-04-28T16:16:18.055952Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:18.041413Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:18.026769Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:18.012363Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:17.996888Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.982009Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:17.967185Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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, Mast syndrome, 248900 SPATI, AD, 612438, ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:17.952353Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:17.936939Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 49, autosomal recessive, 615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:17.922552Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 7, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:17.907666Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, Recessive -Mast syndrome, 248900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:17.892750Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.878353Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.862086Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.846584Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:17.832128Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.814343Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.798416Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.782485Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.767605Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.752484Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.738572Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.722746Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.708845Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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: ",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:17.692167Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.676015Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.659239Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.644016Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.628387Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:17.614727Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.598467Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:17.584359Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.554184Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.538713Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.523393Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.508306Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.493990Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.478800Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:17.465036Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:17.450419Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.435469Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.419819Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: hereditary spastic paraplegia and ataxia; Mode of inheritance: ",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:17.407501Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.393593Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.378468Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.363285Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:17.343416Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.326258Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.298058Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.282997Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.268805Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.253854Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.239485Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:17.225312Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.210401Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.194654Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.180898Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.165882Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.152243Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.137497Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 73, autosomal dominant, 616282, AD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:17.122919Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.105472Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.091475Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.077194Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.062144Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Silver spastic paraplegia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:17.047251Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.032146Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.018136Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:17.004157Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:16.989213Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"user_name": "James Polke",
"item_type": "entity",
"text": "reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 48, autosomal recessive 613647, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-04-28T16:16:16.974441Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:16.960768Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:16.946693Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:16.932890Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:16.918203Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:16.904407Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:16.890464Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:16.876489Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:16.861617Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:16.847135Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T16:16:16.830597Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.6",
"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": "2019-04-28T14:48:36.456469Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ZFYVE26.",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:36.356781Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to WDR45B.",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:36.254519Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to WASHC5.",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:36.150422Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to VPS37A.",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:36.052313Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to VAMP1.",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:35.966619Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to UCHL1.",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:35.881900Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TUBB4A.",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:35.793217Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TFG.",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:35.696281Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TECPR2.",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:35.598424Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SPG7.",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:35.490262Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SPG21.",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:35.397631Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SPG11.",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:35.304185Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SPAST.",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:35.206647Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SPART.",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:35.098112Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC33A1.",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:34.990561Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC25A46.",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:34.891750Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC1A4.",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:34.796570Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC16A2.",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:34.691613Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SERAC1.",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:34.581396Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SACS.",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:34.472285Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RTN2.",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:34.361255Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to REEP2.",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:34.256688Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to REEP1.",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:34.158201Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PSEN1.",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:34.053525Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to POLR3A.",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:33.950158Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PNPLA6.",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:33.862234Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PLP1.",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:33.775141Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to OPA3.",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:33.687399Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NT5C2.",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:33.588960Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NKX6-2.",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:33.494540Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NIPA1.",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:33.396176Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MTPAP.",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:33.241904Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MARS2.",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:33.148877Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MAG.",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:33.050879Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to LYST.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:32.962110Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to L1CAM.",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:32.874166Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KIF5A.",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:32.781209Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KIF1C.",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:32.691078Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KIF1A.",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:32.598160Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KIDINS220.",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:32.497185Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KDM5C.",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:32.398226Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KCNA2.",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:32.282554Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to IBA57.",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:32.179722Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to HSPD1.",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:32.074324Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to HACE1.",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:31.969404Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GJC2.",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:31.867148Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GCH1.",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:31.761038Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GBA2.",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:31.657807Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FARS2.",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:31.554186Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FA2H.",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:31.451272Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ERLIN2.",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:31.347121Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ERLIN1.",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:31.242147Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DSTYK.",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:31.132250Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DDHD2.",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:31.022917Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DDHD1.",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:30.925135Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DARS.",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:30.811281Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CYP7B1.",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:30.693220Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CYP2U1.",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:30.593336Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CYP27A1.",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:30.491533Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CPT1C.",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:30.392088Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CDK16.",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:30.300368Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CAPN1.",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:30.210332Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to C19orf12.",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:30.112538Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to C12orf65.",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:30.015954Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to BSCL2.",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:29.927039Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to B4GALNT1.",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:29.834578Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ATP13A2.",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:29.743070Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ATL1.",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:29.643815Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ARG1.",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:29.541884Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AP5Z1.",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:29.444982Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AP4S1.",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:29.342950Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AP4M1.",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:29.226133Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AP4E1.",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:29.127655Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AP4B1.",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:29.026897Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AMPD2.",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:28.913450Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ALS2.",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:28.809302Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ALDH18A1.",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:28.710004Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AIMP1.",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:28.612256Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AFG3L2.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:28.501552Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ADAR.",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:48:28.311199Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ABCD1.",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:30.703312Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to ZFYVE26.",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:30.595412Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to WDR45B.",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:30.439518Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to WASHC5.",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:30.348807Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to VPS37A.",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:30.260569Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to VAMP1.",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:30.189507Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: UCHL1 was added\ngene: UCHL1 was added to Hereditary spastic paraplegia - childhood onset. Sources: London North GLH\nMode of inheritance for gene: UCHL1 was set to ",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:30.103746Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to TUBB4A.",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:29.998263Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to TFG.",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:29.891609Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to TECPR2.",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:29.782174Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to SPG7.",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:29.680099Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to SPG21.",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:29.586690Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to SPG11.",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:29.485808Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to SPAST.",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:29.387660Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to SPART.",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:29.289158Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to SLC33A1.",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:29.186421Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to SLC25A46.",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:29.080479Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to SLC1A4.",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:28.980255Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to SLC16A2.",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:28.874053Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to SERAC1.",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:28.772912Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to SACS.",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:28.669719Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to RTN2.",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:28.568200Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to REEP2.",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:28.464286Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to REEP1.",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:28.368557Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to PSEN1.",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:28.275954Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to POLR3A.",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:28.181611Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to PNPLA6.",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:28.079738Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to PLP1.",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:27.987305Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to OPA3.",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:27.882076Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to NT5C2.",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:27.784821Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to NKX6-2.",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:27.685960Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to NIPA1.",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:27.584198Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to MTPAP.",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:27.472296Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to MARS2.",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:27.371127Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to MAG.",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:27.274964Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to LYST.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:27.154147Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to L1CAM.",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:27.056594Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to KIF5A.",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:26.954321Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to KIF1C.",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:26.849671Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to KIF1A.",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:26.753448Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to KIDINS220.",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:26.667253Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to KDM5C.",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:26.601938Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: KCNA2 was added\ngene: KCNA2 was added to Hereditary spastic paraplegia - childhood onset. Sources: London North GLH\nMode of inheritance for gene: KCNA2 was set to ",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:26.515744Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to IBA57.",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:26.417384Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to HSPD1.",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:26.312850Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to HACE1.",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:26.216409Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to GJC2.",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:26.118048Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to GCH1.",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:26.026205Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to GBA2.",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:25.930546Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to FARS2.",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:25.844693Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to FA2H.",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:25.760828Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to ERLIN2.",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:25.676946Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to ERLIN1.",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:25.589269Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to DSTYK.",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:25.495502Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to DDHD2.",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:25.408990Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to DDHD1.",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:25.323647Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to DARS.",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:25.225666Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to CYP7B1.",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:25.134422Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to CYP2U1.",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:25.037355Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to CYP27A1.",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:24.965619Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CPT1C was added\ngene: CPT1C was added to Hereditary spastic paraplegia - childhood onset. Sources: London North GLH\nMode of inheritance for gene: CPT1C was set to ",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:24.884843Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to CDK16.",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:24.798534Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to CAPN1.",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:24.714084Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to C19orf12.",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:24.627608Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to C12orf65.",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:24.526771Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to BSCL2.",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:24.431147Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to B4GALNT1.",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:24.337888Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to ATP13A2.",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:24.246881Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to ATL1.",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:24.152050Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to ARG1.",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:24.055568Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to AP5Z1.",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:23.961831Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to AP4S1.",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:23.869306Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to AP4M1.",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:23.778604Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to AP4E1.",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:23.686701Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to AP4B1.",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:23.593476Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to AMPD2.",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:23.502106Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to ALS2.",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:23.410479Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to ALDH18A1.",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:23.317596Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to AIMP1.",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:23.231189Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to AFG3L2.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:23.141386Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to ADAR.",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-04-28T14:47:22.950929Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London North GLH was added to ABCD1.",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:15.798324Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 33, autosomal dominant for gene: ZFYVE27",
"entity_name": "ZFYVE27",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:15.551214Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 53, autosomal recessive for gene: VPS37A",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:15.468143Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:15.248009Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:15.169176Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 42, autosomal dominant, for gene: SLC33A1",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:15.088277Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes spastic paraplegia for gene: RAB3GAP2",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:15.007240Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"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": "2019-04-03T12:42:14.856173Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes microcephaly; perithalamic hyperechogenicity; midbrain abnormalities; intellectual disability; epilepsy; periventricular hyperechogenicity; hypothalamic abnormalities for gene: PCDH12",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:14.777208Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"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": "2019-04-03T12:42:14.696602Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic ataxia 3, autosomal recessive for gene: MARS2",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:14.525545Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes spastic paraplegia; progressive complicated spastic paraplegia for gene: KLC4",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:14.436073Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"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 17273843; 24482476; 24319291 to 24482476; 17273843; 24319291",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:14.349480Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 44, autosomal recessive for gene: GJC2",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:14.255233Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Cerebralpalsy,spasticquadriplegic,1,603513 for gene: GAD1",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:14.168097Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spasticparaplegia64,615683 for gene: ENTPD1",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:14.085683Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 23, 270750 for gene: DSTYK",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:13.997246Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"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": "2019-04-03T12:42:13.747722Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive for gene: AP5Z1",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:13.658292Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic) for gene: AMPD2",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:13.575675Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"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",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:13.492695Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"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 24482476; 26179919 to 26179919; 24482476",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:13.404832Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"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 24521565; 26307451; 25519960; 25519961 to 24521565; 26307451; 25519961; 25519960",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:13.310645Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"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 26919706; 15586325; 10982473 to 10982473; 26919706; 15586325",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:13.222861Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:13.137649Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 13, autosomal dominant, 605280 for gene: HSPD1",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:13.052294Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dystonia; progressive spastic paraplegia; Spastic paraplegia for gene: GCH1\nPublications for gene GCH1 were changed from 21935284; 24509643 to 24509643; 21935284",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:12.969699Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"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 25527264; 23643384 to 23643384; 25527264",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:12.884398Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Intellectual disability and spastic paraplegia for gene: CDK16",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:12.801512Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 76 autosomal recessive, 616907 for gene: CAPN1",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:12.715377Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes spastic paraplegia; seizure; Dystonia 9, 601042; Developmental delay; paroxysmal choreoathetosis for gene: SLC2A1\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:12.625473Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 45, autosomal recessive, 613162 for gene: NT5C2\nPublications for gene NT5C2 were changed from 29123918; 28884889; 24482476; 28327087 to 28327087; 28884889; 24482476; 29123918\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:12.528592Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Spastic paraplegia; seizure; psychomotor retardation for gene: HACE1\nPublications for gene HACE1 were changed from 26437029; 26424145 to 26424145; 26437029\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:12.445573Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 for gene: ERLIN1\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:12.357250Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness for gene: CYP27A1\nPublications for gene CYP27A1 were changed from 25862734; 26874936; 28623566; 27455001; 29321515 to 25862734; 27455001; 26874936; 29321515; 28623566\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:12.274539Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"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\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:12.185320Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Progressive spastic tetraplegia; Argininaemia, 207800 for gene: ARG1\nPublications for gene ARG1 were changed from 26310552; 23859858; 2365823; 1463019 to 2365823; 23859858; 1463019; 26310552\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:12.098736Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes spastic paraparesis; VLCFA accumulation; adrenal failure; Hereditary spastic paraplegia for gene: ABCD1\nPublications for gene ABCD1 were changed from 11810273; 27084228; 11739809; 26049658; 23664929 to 23664929; 11739809; 26049658; 27084228; 11810273\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:12.015894Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:11.928312Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.; Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:11.837811Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563 for gene: WASHC5",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:11.676374Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Leukodystrophy, hypomyelinating, 6 612438; ataxia; Dystonia 4, torsion, autosomal dominant 128101 for gene: TUBB4A",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:11.593257Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:11.507998Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic Paraplegia, Recessive; Mast syndrome, 248900 for gene: SPG21",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:11.426843Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360 for gene: SPG11\nPublications for gene SPG11 were changed from 17322883; 16699786 to 16699786; 17322883",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:11.346727Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 4, autosomal dominant for gene: SPAST",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:11.246484Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Troyer syndrome, 275900 for gene: SPART",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:11.163695Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:11.078350Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4\nPublications for gene SLC1A4 were changed from 25930971; 26041762; 29989513; 26138499; 27193218 to 26138499; 25930971; 26041762; 27193218; 29989513",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:10.998995Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Allan-Herndon-Dudley syndrome, 300523 for gene: SLC16A2",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:10.905862Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; MEGDEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; MEGDHEL syndrome for gene: SERAC1\nPublications for gene SERAC1 were changed from 27186703; 28482397; 27604308; 28778788; 29205472; 22683713; 16527507 to 27604308; 29205472; 27186703; 28482397; 28778788; 22683713; 16527507",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:10.825113Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 for gene: SACS",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:10.746471Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 12, autosomal dominant, 604805 for gene: RTN2",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:10.661822Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:10.573506Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Autosomal Recessive Ataxia for gene: POLR3A\nPublications for gene POLR3A were changed from 21855841; 25655951 to 25655951; 21855841",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:10.479178Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 39, autosomal recessive, 612020 for gene: PNPLA6",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:10.396230Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 2, X-linked, 312920 for gene: PLP1",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:10.312528Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome for gene: OPA3\nPublications for gene OPA3 were changed from 25201222; 11668429; 20301646; 24944951; 25657044 to 11668429; 24944951; 25201222; 25657044; 20301646",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:10.224544Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:10.140746Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 6,autosomal dominant, 600363 for gene: NIPA1\nPublications for gene NIPA1 were changed from 14508710; 15711826 to 15711826; 14508710",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:10.047110Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Hereditary spastic paraplegia; X-linked hydrocephalus, MASA syndrome, 303350 for gene: L1CAM",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:09.958569Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 10, autosomal dominant, 604187 for gene: KIF5A",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:09.850578Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 30, autosomal recessive, 610357 for gene: KIF1A",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:09.763675Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296 for gene: KIDINS220",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:09.676971Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:09.596017Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046 for gene: FARS2\nPublications for gene FARS2 were changed from 29126765; 26553276; 25851414; 30250868 to 26553276; 30250868; 25851414; 29126765",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:09.503956Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 35, autosomal recessive, 612319 for gene: FA2H",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:09.414056Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia, autosomal dominant; Spastic paraplegia 18, autosomal recessive, 611225; hereditary spastic paraplegia; neurodegeneration for gene: ERLIN2\nPublications for gene ERLIN2 were changed from 27824013; 23085305; 21330303; 23109142; 28832565; 23897027; 22554690; 25977983; 23109145; 21796390; 29528531 to 23109145; 22554690; 23085305; 27824013; 29528531; 23109142; 28832565; 21330303; 23897027; 21796390; 25977983",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:09.316120Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 54, autosomal recessive, 615033 for gene: DDHD2",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:09.218635Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 28, autosomal recessive, 609340 for gene: DDHD1",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:09.129501Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800 for gene: CYP7B1",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:09.042081Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:08.959609Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:08.876884Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 55, autosomal recessive, 615035 for gene: C12orf65",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:08.795189Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Silver spastic paraplegia syndrome, 270685 for gene: BSCL2\nPublications for gene BSCL2 were changed from 14981520; 13680364 to 13680364; 14981520",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:08.705375Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 26, autosomal recessive, 609195 for gene: B4GALNT1",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:08.617233Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 3A, autosomal dominant,182600; Spastic Paraplegia, Dominant for gene: ATL1",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:08.527540Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes developmental delay; seizures; Spastic paraplegia 52, autosomal recessive, 614067 for gene: AP4S1",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:08.437755Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 50, autosomal recessive, 612936 for gene: AP4M1",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:08.358900Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 51, autosomal recessive, 613744 for gene: AP4E1",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:08.277309Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 47, autosomal recessive, 614066 for gene: AP4B1",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:08.189821Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paralysis, infantile onset ascending, 607225 for gene: ALS2",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:08.109553Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 9B, autosomal recessive, 616586; SPG9; Spastic paraplegia 9A, autosomal dominant, 601162; ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3 for gene: ALDH18A1",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:08.031282Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Leukodystrophy, hypomyelinating, 3, 260600 for gene: AIMP1",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:07.954007Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Ataxia, spastic, 5, autosomal recessive; Spastic ataxia 5, autosomal recessive, 614487 for gene: AFG3L2",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:42:07.870157Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Aicardi-Goutieres syndrome 6, 615010 for gene: ADAR",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-03-12T11:38:47.231093Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: NT5C2 as Green List (high evidence)",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-03-12T11:38:47.228439Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Updated rating from Red to Green; rating was updated from Red to Green on the 'Hereditary spastic paraplegia' panel after curation from Sarah Leigh and advice from Helen Brittain. Plus literature confirms a childhood onset of HSP: In PMID:28884889, 3 family members developed HSP symptoms at under 1 year. In PMID:28327087, two brothers from a Consanguineous Qatari family age 9 and 3 years with complex HSP had an early-onset phenotype. PMID:29123918 describe an infantile-onset form of recessive HSP.",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-03-12T11:38:47.203558Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: nt5c2 has been classified as Green List (High Evidence).",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-03-12T11:19:05.369318Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive 613162 to Spastic paraplegia 45, autosomal recessive, 613162",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-02-26T11:20:15.223650Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on STR: FXN_GAA",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2019-02-26T11:19:40.478603Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed STR: CACNA1A_CAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2019-02-26T11:15:54.624220Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed STR: ATXN7_CAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2019-02-26T11:11:07.624991Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed STR: ATXN3_CAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2019-02-26T11:06:15.819469Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed STR: ATXN2_CAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2019-02-26T11:00:54.188722Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed STR: ATXN1_CAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2019-02-25T11:48:51.911786Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on STR: ATXN10_ATTCT",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2019-02-25T11:37:16.748479Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: SLC2A1",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2019-02-25T11:35:53.490089Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: HACE1",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-02-25T11:34:28.461036Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: ERLIN1",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-02-25T11:33:40.161801Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: CYP27A1",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-02-25T11:25:17.649082Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: ATP13A2",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-02-25T11:23:58.059480Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: ARG1",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-02-25T11:20:44.728658Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: ABCD1",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-02-25T11:19:16.722569Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-02-25T11:18:14.777655Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: WDR45B",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-02-25T11:17:21.291498Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-02-25T11:10:46.066570Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: TUBB4A",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-02-25T11:10:04.731978Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-02-25T11:06:03.129397Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-02-25T11:01:14.480108Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: SPG11",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2019-02-25T10:59:51.079348Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2019-02-25T10:55:26.398076Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: SPART",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-02-25T10:54:12.001666Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "1.0",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: SLC25A46",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-01-28T14:26:50.659706Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"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": "2019-01-28T14:02:58.874597Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.145",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: added phenotypes from OMIM (with HSP)",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2019-01-28T14:02:58.860502Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.145",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A1 were changed from paroxysmal choreoathetosis; spastic paraplegia; seizure; Developmental delay to Dystonia 9, 601042; paroxysmal choreoathetosis; spastic paraplegia; seizure; Developmental delay",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2019-01-28T14:00:09.727287Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.144",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on publications: added publication suggested by internal clinical review",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2019-01-28T14:00:09.710886Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.144",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SLC2A1 were set to 21832227; 18606970; 11136715",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:58:56.773119Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.143",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: HACE1 were changed from psychomotor retardation; Spastic paraplegia; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756 to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; psychomotor retardation; Spastic paraplegia; seizure",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:56:25.801208Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.142",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ZFYVE26 were set to Hanein et al. (2008)",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:56:13.114060Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.141",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia 15, autosomal recessive to Spastic paraplegia 15, autosomal recessive, 270700",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:55:19.159850Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.140",
"user_name": "Louise Daugherty",
"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. to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977; profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:54:32.262238Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.139",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: WASHC5 were set to Valdmanis et al. (2007)",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:54:21.503590Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.138",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: WASHC5 were changed from Spastic paraplegia 8, autosomal dominant to Spastic paraplegia 8, autosomal dominant, 603563",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:51:08.194559Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.137",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SPG7 were set to Casari et al (1998)",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:50:50.294554Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive to Spastic paraplegia 7, autosomal recessive, 607259",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:49:32.293271Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SPG21 were set to Simpson et al. (2003)",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:49:21.805987Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SPG21 were changed from Spastic Paraplegia, Recessive to Spastic Paraplegia, Recessive; Mast syndrome, 248900",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:48:38.537332Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SPG11 were set to Stevanin et al. (2007)",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:48:00.221824Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SPG11 were changed from Spastic paraplegia 11, autosomal recessive to Spastic paraplegia 11, autosomal recessive, 604360",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:44:56.953935Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.131",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SPART were set to Patel et al. (2002",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:44:39.800751Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.130",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SPART were changed from to Troyer syndrome, 275900",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:41:29.124420Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.129",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SLC16A2 were set to Friesema et al. (2003)",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:40:59.081321Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.128",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SLC16A2 were changed from to Allan-Herndon-Dudley syndrome, 300523",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:39:58.642104Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.127",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SERAC1 were changed from MEGDEL syndrome; MEGDHEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; MEGDEL syndrome; MEGDHEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:38:27.705803Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.126",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SACS were changed from Spastic ataxia, Charlevoix-Saguenay type to Spastic ataxia, Charlevoix-Saguenay type, 270550",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:30:40.027673Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.125",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: RTN2 were set to Montenegro et al. (2012)",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:30:23.046631Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.124",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant to Spastic paraplegia 12, autosomal dominant, 604805",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:29:59.182309Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.123",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: REEP1 were changed from Spastic paraplegia 31, autosomal dominant to Spastic paraplegia 31, autosomal dominant, 610250",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:29:44.179528Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.122",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: REEP1 were set to Zuchner et al. (2006)",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:29:10.421691Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.121",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Autosomal Recessive Ataxia",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:28:07.746037Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.120",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: PNPLA6 were set to Rainier et al. (2008)",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:27:51.336447Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.119",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA6 were changed from Spastic paraplegia 39, autosomal recessive to Spastic paraplegia 39, autosomal recessive, 612020",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:25:11.860830Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.118",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: PLP1 were set to Saugier-Veber et al (1994)",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:24:35.185274Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.117",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: PLP1 were changed from Spastic paraplegia 2, X-linked to Spastic paraplegia 2, X-linked, 312920",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:22:44.146763Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.116",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: NIPA1 were changed from Spasticparaplegia6,autosomaldominant,600363; Spastic paraplegia 6, autosomal dominant to Spastic paraplegia 6,autosomal dominant, 600363",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:22:18.240415Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.115",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: NIPA1 were set to Rainier et al. (2003)",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:21:28.001020Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.114",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: L1CAM were changed from X-linked hydrocephalus, MASA syndrome,303350; Hereditary spastic paraplegia to X-linked hydrocephalus, MASA syndrome, 303350; Hereditary spastic paraplegia",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:18:47.670784Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.113",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: L1CAM were changed from X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia to X-linked hydrocephalus, MASA syndrome,303350; Hereditary spastic paraplegia",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:18:07.949729Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.112",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: L1CAM were set to 7920659",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:18:06.208906Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.111",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: L1CAM were set to PMID: 7920659",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:16:11.034263Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.110",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: KIF5A were changed from Spastic paraplegia 10, autosomal dominant to Spastic paraplegia 10, autosomal dominant, 604187",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:11:33.227748Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.109",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: BSCL2 were set to 14981520",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:05:56.865945Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.108",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: KIF5A were set to Reid et al. (2002)",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:03:30.199058Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.107",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive to Spastic paraplegia 30, autosomal recessive, 610357",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:03:14.819449Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.106",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: KIF1A were set to Erlich et al. (2011)",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-01-28T13:00:35.748231Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.105",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant; 605280 to Spastic paraplegia 13, autosomal dominant, 605280",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:56:06.552592Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.104",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant to Spastic paraplegia 13, autosomal dominant; 605280",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:55:51.383261Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.103",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: HSPD1 were set to Hansen et al. (2002)",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:55:20.157274Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.102",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: HSPD1 as Amber List (moderate evidence)",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:55:20.154443Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.102",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: demoted from Green to Amber after internal clinical review",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:55:20.129424Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.102",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: hspd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:53:31.709538Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.101",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: FA2H were set to Edvardson et al. (2008)",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:53:19.454345Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.100",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive to Spastic paraplegia 35, autosomal recessive, 612319",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:52:44.960564Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.99",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: DDHD2 were changed from Spastic paraplegia 54, autosomal recessive to Spastic paraplegia 54, autosomal recessive, 615033",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:52:40.982620Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.98",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DDHD2 were set to Schuurs-Hoeijmakers et al. (2012)",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:52:00.356814Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.97",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DDHD1 were set to Tesson et al. (2012)",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:51:53.603623Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.96",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive, 23176821 to Spastic paraplegia 28, autosomal recessive, 609340",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:51:31.104412Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.95",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive to Spastic paraplegia 28, autosomal recessive, 23176821",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:50:56.110052Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.94",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive to Spastic paraplegia 5A, autosomal recessive, 270800",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:50:49.187840Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.93",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CYP7B1 were set to Tsaousidou et al. (2008) i",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:49:47.693122Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.92",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CYP2U1 were set to Tesson et al. (2012)",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:49:34.778875Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.91",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CYP2U1 were changed from Spastic paraplegia 56, autosomal recessive to Spastic paraplegia 56, autosomal recessive, 615030",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:48:52.565155Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.90",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CAPN1 were set to ",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:48:22.158205Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.89",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: CAPN1 as Amber List (moderate evidence)",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:48:22.155449Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.89",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: changed to Amber after internal clinical review",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:48:22.134242Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.89",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: capn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:43:59.327779Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.88",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: C19orf12 were changed from Neurodegeneration with brain iron accumulation 4, 614298 to Neurodegeneration with brain iron accumulation 4, 614298; Spastic paraplegia 43, autosomal recessive, 615043",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:43:33.084561Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.87",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: C19orf12 were set to Landoure (2013)",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:43:06.788602Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.86",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: C19orf12 were changed from to Neurodegeneration with brain iron accumulation 4, 614298",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:42:31.363407Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.85",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Changed MOI from 'monoallelic' to 'biallelic' to match PMID:24482476 and OMIM.",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:42:31.348516Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.85",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB3GAP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:42:18.567780Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.84",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: C12orf65 were set to Shimazaki et al. (2012)",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:42:12.321200Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.83",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf65 were changed from Spasticparaplegia55,autosomalrecessive,615035 to Spastic paraplegia 55, autosomal recessive, 615035",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:27:17.604642Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.82",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Updated MOI from biallelic to monoallelic as agreed with Arianna. Although Biallelic MOI is suggested by the Reviewer Chris Buxton on the Hereditary spastic paraplegia panel, PMIDs:27725288, 11136715 and 21832227 show autosomal dominant inheritance for the GLUT1 deficiency (including HSP phenotype).",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:27:17.590120Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.82",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:26:48.964419Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.81",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: BSCL2 were set to Windpassinger et al. (2004)",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:26:14.525862Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.80",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, to Silver spastic paraplegia syndrome, 270685",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:26:10.919182Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.79",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: SLC2A1 as Green List (high evidence)",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:26:10.916631Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.79",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Updated rating from Red to Green following review on the 'Hereditary spastic paraplegia' panel. Age of onset of Spastic paraplegia in patients from PMID:27725288 includes 'Infancy, 3 yr, 4 yr, 10 yr, not examined).",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:26:10.897169Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.79",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: slc2a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:25:32.341675Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.78",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: B4GALNT1 were set to Boukhris et al. (2013)",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:25:19.001487Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, autosomal recessive to Spastic paraplegia 26, autosomal recessive, 609195",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:25:18.721093Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, autosomal recessive to Spastic paraplegia 26, autosomal recessive, 609195",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:23:51.224457Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ATL1 were changed from Spastic paraplegia 3A, autosomal dominant; Spastic paraplegia 3A, autosomal dominant,; Spastic Paraplegia, Dominant to Spastic paraplegia 3A, autosomal dominant,182600; Spastic Paraplegia, Dominant",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:23:21.049628Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ATL1 were set to PMID: 11685207",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:23:04.210407Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: AP4S1 were set to Abou Jamra et al. (2011)",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:22:50.200769Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.73",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: AP4S1 were changed from seizures; developmental delay; Spastic paraplegia 52, autosomal recessive to seizures; developmental delay; Spastic paraplegia 52, autosomal recessive, 614067",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:22:05.784950Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: AP4M1 were set to Verkerk et al. (2009)",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:21:52.898576Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.71",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: AP4M1 were changed from Spastic paraplegia 50, autosomal recessive to Spastic paraplegia 50, autosomal recessive, 612936",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:21:18.636227Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: AP4E1 were changed from Spastic paraplegia 51, autosomal recessive to Spastic paraplegia 51, autosomal recessive, 613744",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:20:30.373513Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.69",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: AP4E1 were set to Moreno-De-Luca et al. (2011)",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:19:11.210322Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.68",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: AP4B1 were set to Abou Jamra et al. (2011) i",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:18:11.050773Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.67",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive to Spastic paraplegia 47, autosomal recessive, 614066",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:17:13.812311Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.66",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ALS2 were changed from 607225 to Spastic paralysis, infantile onset ascending, 607225",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:15:46.334658Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.65",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH18A1 were changed from ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3; Spastic paraplegia 9A, autosomal dominant to ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3; Spastic paraplegia 9A, autosomal dominant, 601162; Spastic paraplegia 9B, autosomal recessive, 616586",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:14:14.500889Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.64",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: AIMP1 were changed from 260600 to Leukodystrophy, hypomyelinating, 3, 260600",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-01-28T12:13:26.464890Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.63",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive to Spastic ataxia 5, autosomal recessive, 614487; Ataxia, spastic, 5, autosomal recessive",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-01-14T17:25:39.478313Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: SLC1A4",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2019-01-14T17:24:10.770875Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: SLC16A2",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-01-14T17:23:23.846551Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: SERAC1",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-01-14T17:22:41.072264Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: SACS",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2019-01-14T17:22:02.238571Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: RTN2: Onset of SPG12 usually in the first decade",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-01-14T17:22:01.801087Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: RTN2",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2019-01-14T17:21:05.405103Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: REEP1",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2019-01-14T17:20:16.503678Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: POLR3A",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-01-14T17:19:11.382103Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: PNPLA6",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-01-14T17:18:19.259811Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: PLP1",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2019-01-14T17:17:47.227402Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: OPA3",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2019-01-14T17:16:38.209937Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: NKX6-2",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-01-14T17:16:01.435751Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: NIPA1",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2019-01-14T17:13:32.861588Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: L1CAM",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-01-14T17:12:56.510345Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: KIF5A",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-01-14T17:10:47.956775Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: KIF1A",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2019-01-14T17:08:55.319651Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: KIDINS220",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-01-14T17:08:17.773409Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: HSPD1",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:52:55.095348Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: GBA2",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:52:04.854333Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: FARS2",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:51:03.469784Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: FA2H",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:49:45.463987Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: ERLIN2",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:40:14.615815Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: DDHD2",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:39:15.991414Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: DDHD1",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:37:46.465971Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: CYP7B1",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:36:23.483853Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: CYP2U1",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:35:00.265761Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:32:39.835061Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: C19orf12",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:31:06.843030Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: C12orf65",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:21:11.803897Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: BSCL2",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:17:32.287756Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: B4GALNT1",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:16:38.810260Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: ATL1",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:15:35.288155Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: AP4S1",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:14:49.812471Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: AP4M1",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:14:14.750731Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: AP4E1",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:13:09.519510Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: AP4B1",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:12:13.487618Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: ALS2",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:08:42.145559Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: ALDH18A1",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:01:54.943094Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: AIMP1",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-01-14T16:01:01.740684Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: AFG3L2",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-01-14T15:58:38.331840Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.62",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on gene: ADAR",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-01-14T09:56:44.719044Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.61",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia - childhood onset to Hereditary spastic paraplegia; Spastic paraplegia 62, 615681",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-01-14T09:55:58.536820Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.60",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: ERLIN1 as Green List (high evidence)",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-01-14T09:55:58.534457Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.60",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-01-14T09:55:58.511331Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.60",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: erlin1 has been classified as Green List (High Evidence).",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-01-14T09:40:08.807642Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.59",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: HACE1 as Green List (high evidence)",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-01-14T09:40:08.805093Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.59",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Updated rating from Amber to Green following review on the Hereditary spastic paraplegia panel.",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-01-14T09:40:08.790034Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.59",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: hace1 has been classified as Green List (High Evidence).",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-01-14T09:37:07.658082Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.58",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: CYP27A1 as Green List (high evidence)",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-01-14T09:37:07.655150Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.58",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Updated rating from Amber to Green following review on the Hereditary spastic paraplegia panel.",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-01-14T09:37:07.638448Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.58",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: cyp27a1 has been classified as Green List (High Evidence).",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-01-09T13:48:05.335080Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.57",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive to Spastic paraplegia 46, autosomal recessive, 614409",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-01-09T13:47:15.689043Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: GBA2 were set to Martin et al. (2013)",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-01-08T16:10:55.140964Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.54",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: RAB3GAP2 as Red List (low evidence)",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2019-01-08T16:10:55.137854Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.54",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2019-01-08T16:10:55.109427Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.54",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: rab3gap2 has been classified as Red List (Low Evidence).",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2019-01-08T15:45:01.656411Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.53",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: LYST as Amber List (moderate evidence)",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-01-08T15:45:01.653861Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.53",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-01-08T15:45:01.636403Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.53",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: lyst has been classified as Amber List (Moderate Evidence).",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-01-08T15:44:40.514736Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.52",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Phenotypes for gene: LYST were changed from spastic paraplegia to spastic paraplegia; Chediak-Higashi syndrome, 214500",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-01-08T15:44:35.152253Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.51",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Publications for gene: LYST were set to 24521565",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-01-08T15:26:52.300006Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.50",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: KLC4 as Red List (low evidence)",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2019-01-08T15:26:52.296936Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.50",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2019-01-08T15:26:52.275321Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.50",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: klc4 has been classified as Red List (Low Evidence).",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2019-01-08T15:26:23.678136Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.49",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Phenotypes for gene: KLC4 were changed from spastic paraplegia to spastic paraplegia; progressive complicated spastic paraplegia",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2019-01-08T15:17:33.355847Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.48",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: KDM5C as Amber List (moderate evidence)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-01-08T15:17:33.352932Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.48",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-01-08T15:17:33.331287Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.48",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: kdm5c has been classified as Amber List (Moderate Evidence).",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-01-08T15:17:06.462757Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.47",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5C were changed from Intellectual disability; progressive spasticity; epilepsy; hypothyroidism; developmental delay to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; Intellectual disability; progressive spasticity; epilepsy; hypothyroidism; developmental delay",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-01-08T14:55:04.379142Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.46",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: HACE1 as Amber List (moderate evidence)",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-01-08T14:55:04.376653Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.46",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-01-08T14:55:04.357045Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.46",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: hace1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-01-08T14:54:52.307071Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.45",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Phenotypes for gene: HACE1 were changed from psychomotor retardation; Spastic paraplegia; seizure to psychomotor retardation; Spastic paraplegia; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-01-08T14:25:45.055765Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.44",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia - childhood onset",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-01-08T13:55:51.394524Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.43",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: DARS as Amber List (moderate evidence)",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-01-08T13:55:51.392549Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.43",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-01-08T13:55:51.374889Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.43",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: dars has been classified as Amber List (Moderate Evidence).",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-01-08T13:55:34.235680Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.42",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Phenotypes for gene: DARS were changed from leg spasticity; Brain stem and spinal cord Hypomyelination to Brain stem and spinal cord Hypomyelination; leg spasticity; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2019-01-08T13:42:08.605211Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.41",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: CYP27A1 as Amber List (moderate evidence)",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-01-08T13:42:08.602151Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.41",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-01-08T13:42:08.582589Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.41",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-01-08T13:41:49.006033Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.40",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Phenotypes for gene: CYP27A1 were changed from progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-01-08T13:41:42.267674Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.39",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Publications for gene: CYP27A1 were set to 25862734",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-01-08T12:10:32.137889Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.38",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: ATP13A2 as Green List (high evidence)",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-01-08T12:10:32.135302Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.38",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel. Note that this gene may not be appropriate for a childhood onset panel.",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-01-08T12:10:32.112966Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.38",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: atp13a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-01-08T12:09:52.719835Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.37",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Publications for gene: ATP13A2 were set to 28137957",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-01-08T12:09:47.989093Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.36",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Phenotypes for gene: ATP13A2 were changed from Adult-onset lower-limb predominant spastic paraparesis to Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-01-07T16:10:34.529607Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.35",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: ARG1 as Green List (high evidence)",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-01-07T16:10:34.527332Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.35",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-01-07T16:10:34.506006Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.35",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: arg1 has been classified as Green List (High Evidence).",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-01-07T16:10:20.058022Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.34",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Publications for gene: ARG1 were set to 23859858; 26310552",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-01-07T16:10:15.735660Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.33",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Phenotypes for gene: ARG1 were changed from Argininaemia; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-01-07T14:36:13.227147Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.32",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Publications for gene: ABCD1 were set to ",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-01-07T14:34:47.849079Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.31",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Phenotypes for gene: ABCD1 were changed from adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia to adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia; spastic paraparesis",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-01-07T14:34:32.450998Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.30",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: ABCD1 as Green List (high evidence)",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-01-07T14:34:32.448304Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.30",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2019-01-07T14:34:32.418290Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.30",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: abcd1 has been classified as Green List (High Evidence).",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2018-12-21T14:26:28.598099Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: TBP_CAG as Green List (high evidence)",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T14:26:28.591453Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: tbp_cag has been classified as Green List (High Evidence).",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T14:26:19.676616Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "STR: TBP_CAG was added\nSTR: TBP_CAG was added to Hereditary spastic paraplegia - childhood 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: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 \nSources: Expert list",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T14:21:53.988650Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: PPP2R2B_CAG as Green List (high evidence)",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T14:21:53.983405Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: ppp2r2b_cag has been classified as Green List (High Evidence).",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T14:21:46.307299Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "STR: PPP2R2B_CAG was added\nSTR: PPP2R2B_CAG was added to Hereditary spastic paraplegia - childhood 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: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 \nSources: Expert list",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T14:13:21.633916Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: HTT_CAG as Green List (high evidence)",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T14:13:21.627443Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: htt_cag has been classified as Green List (High Evidence).",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T14:12:59.922134Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Marked STR: HTT_CAG as ready",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T14:12:59.915369Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: htt_cag has been classified as Red List (Low Evidence).",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T14:12:52.759839Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "STR: HTT_CAG was added\nSTR: HTT_CAG was added to Hereditary spastic paraplegia - childhood 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: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 \nSources: Expert list",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T14:08:47.314343Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: FXN_GAA as Green List (high evidence)",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2018-12-21T14:08:47.308949Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: fxn_gaa has been classified as Green List (High Evidence).",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2018-12-21T14:08:37.479991Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "STR: FXN_GAA was added\nSTR: FXN_GAA was added to Hereditary spastic paraplegia - childhood 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: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 \nSources: Expert list",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2018-12-21T14:05:52.325727Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: CACNA1A_CAG as Green List (high evidence)",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T14:05:52.316835Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: cacna1a_cag has been classified as Green List (High Evidence).",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T14:05:40.157400Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "STR: CACNA1A_CAG was added\nSTR: CACNA1A_CAG was added to Hereditary spastic paraplegia - childhood 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: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 \nSources: Expert list",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T14:02:53.971548Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: ATXN7_CAG as Green List (high evidence)",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T14:02:53.964465Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: atxn7_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T14:02:45.707509Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "STR: ATXN7_CAG was added\nSTR: ATXN7_CAG was added to Hereditary spastic paraplegia - childhood 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: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 \nSources: Expert list",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T13:56:44.169878Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: ATXN3_CAG as Green List (high evidence)",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T13:56:44.162513Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: atxn3_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T13:56:29.123257Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "STR: ATXN3_CAG was added\nSTR: ATXN3_CAG was added to Hereditary spastic paraplegia - childhood 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: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 \nSources: Expert list",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T13:53:01.995349Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.15",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: ATXN2_CAG as Green List (high evidence)",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T13:53:01.988635Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.15",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: atxn2_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T13:52:49.664141Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"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 - childhood 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: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 \nSources: Expert list",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2018-12-21T13:46:33.345134Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: ATXN10_ATTCT as Green List (high evidence)",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2018-12-21T13:46:33.338308Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: atxn10_attct has been classified as Green List (High Evidence).",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2018-12-21T13:46:24.631346Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"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 - childhood 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: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 \nSources: Expert list",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2018-12-21T13:40:40.652279Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"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": "2018-12-21T13:40:40.646065Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"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": "2018-12-21T13:40:31.163512Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"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 - childhood 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: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 \nSources: Expert list",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2018-12-19T15:11:43.094366Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ZFYVE27 was added\ngene: ZFYVE27 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: ZFYVE27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZFYVE27 were set to Mannan AU (2006)\nPhenotypes for gene: ZFYVE27 were set to Spastic paraplegia 33, autosomal dominant",
"entity_name": "ZFYVE27",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:43.040053Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ZFYVE26 was added\ngene: ZFYVE26 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFYVE26 were set to Hanein et al. (2008)\nPhenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.984493Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ZEB2 was added\ngene: ZEB2 was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert Review Red\nMode of inheritance for gene: ZEB2 was set to ",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.936799Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: WDR48 was added\ngene: WDR48 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: WDR48 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR48 were set to Novarino et al. (2014)",
"entity_name": "WDR48",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.887587Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: WDR45B was added\ngene: WDR45B was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature\nMode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR45B were set to 21937992; 28503735\nPhenotypes for gene: WDR45B were set to profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.823329Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: WASHC5 was added\ngene: WASHC5 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: WASHC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: WASHC5 were set to Valdmanis et al. (2007)\nPhenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.767953Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: VPS37A was added\ngene: VPS37A was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red\nMode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS37A were set to Zivony-Elboum et al. (2012)\nPhenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.718592Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: VAMP1 was added\ngene: VAMP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red\nMode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: VAMP1 were set to 22958904\nPhenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.674743Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: USP8 was added\ngene: USP8 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: USP8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP8 were set to Novarino et al. (2014)",
"entity_name": "USP8",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.624254Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: TUBB4A was added\ngene: TUBB4A was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TUBB4A were set to Dystonia 4, torsion, autosomal dominant 128101; ataxia; Leukodystrophy, hypomyelinating, 6 612438",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.580993Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: TFG was added\ngene: TFG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TFG were set to Beetz et al. (2013)",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.537281Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: TECPR2 was added\ngene: TECPR2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red\nMode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TECPR2 were set to 23176824; 26542466\nPhenotypes for gene: TECPR2 were set to Spastic paraplegia 49, autosomal recessive, 615031",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.491266Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SPG7 was added\ngene: SPG7 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPG7 were set to Casari et al (1998)\nPhenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.430792Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SPG21 was added\ngene: SPG21 was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPG21 were set to Simpson et al. (2003)\nPhenotypes for gene: SPG21 were set to Spastic Paraplegia, Recessive",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.381524Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SPG11 was added\ngene: SPG11 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPG11 were set to Stevanin et al. (2007)\nPhenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.328934Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SPAST was added\ngene: SPAST was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SPAST were set to Hazan et al (1999)\nPhenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.259972Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SPART was added\ngene: SPART was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert list,Expert Review Green\nMode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPART were set to Patel et al. (2002",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.212853Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SLC33A1 was added\ngene: SLC33A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Red,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SLC33A1 were set to Lin et al. (2008)\nPhenotypes for gene: SLC33A1 were set to Spastic paraplegia 42, autosomal dominant,",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.156905Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SLC2A1 was added\ngene: SLC2A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature\nMode of inheritance for gene: SLC2A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC2A1 were set to 21832227; 18606970; 11136715\nPhenotypes for gene: SLC2A1 were set to paroxysmal choreoathetosis; spastic paraplegia; seizure; Developmental delay",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.105355Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SLC25A46 was added\ngene: SLC25A46 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature\nMode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A46 were set to 28369803; 26168012\nPhenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.061588Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SLC1A4 was added\ngene: SLC1A4 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC1A4 were set to 25930971; 26041762; 29989513; 26138499; 27193218\nPhenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:42.018887Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SLC16A2 was added\ngene: SLC16A2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SLC16A2 were set to Friesema et al. (2003)",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.975493Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SERAC1 was added\ngene: SERAC1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green\nMode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SERAC1 were set to 27186703; 28482397; 27604308; 28778788; 29205472; 22683713; 16527507\nPhenotypes for gene: SERAC1 were set to MEGDEL syndrome; MEGDHEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.932298Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SACS was added\ngene: SACS was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green\nMode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.885117Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: RTN2 was added\ngene: RTN2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: RTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RTN2 were set to Montenegro et al. (2012)\nPhenotypes for gene: RTN2 were set to Spastic paraplegia 12, autosomal dominant",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.833612Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: REEP2 was added\ngene: REEP2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Other,Literature\nMode of inheritance for gene: REEP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: REEP2 were set to 24388663\nPhenotypes for gene: REEP2 were set to ?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant,615625",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.786527Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: REEP1 was added\ngene: REEP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: REEP1 were set to Zuchner et al. (2006)\nPhenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.731315Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: RAB3GAP2 was added\ngene: RAB3GAP2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature\nMode of inheritance for gene: RAB3GAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB3GAP2 were set to 24482476\nPhenotypes for gene: RAB3GAP2 were set to spastic paraplegia",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.686952Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: PSEN1 was added\ngene: PSEN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red\nMode of inheritance for gene: PSEN1 was set to \nPhenotypes for gene: PSEN1 were set to Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; Alzheimer disease, type 3, with spastic paraparesis and apraxia",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.644957Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: POLR3A was added\ngene: POLR3A was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature\nMode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3A were set to 21855841; 25655951\nPhenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.602373Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: PNPLA6 was added\ngene: PNPLA6 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNPLA6 were set to Rainier et al. (2008)\nPhenotypes for gene: PNPLA6 were set to Spastic paraplegia 39, autosomal recessive",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.555751Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: PLP1 was added\ngene: PLP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green\nMode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PLP1 were set to Saugier-Veber et al (1994)\nPhenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.508797Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: PGAP1 was added\ngene: PGAP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PGAP1 were set to Novarino et al. (2014)",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.467978Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: PCDH12 was added\ngene: PCDH12 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review\nMode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCDH12 were set to 27164683\nPhenotypes for gene: PCDH12 were set to microcephaly; epilepsy; midbrain abnormalities; intellectual disability; hypothalamic abnormalities; perithalamic hyperechogenicity; periventricular hyperechogenicity",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.425464Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: OPA3 was added\ngene: OPA3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green,Literature\nMode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OPA3 were set to 25201222; 11668429; 20301646; 24944951; 25657044\nPhenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.382250Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: NT5C2 was added\ngene: NT5C2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red\nMode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NT5C2 were set to 29123918; 28884889; 24482476; 28327087\nPhenotypes for gene: NT5C2 were set to Spasticparaplegia45, autosomal recessive 613162",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.337314Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: NKX6-2 was added\ngene: NKX6-2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature\nMode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NKX6-2 were set to 15601927; 28575651\nPhenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.294461Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: NIPA1 was added\ngene: NIPA1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NIPA1 were set to Rainier et al. (2003)\nPhenotypes for gene: NIPA1 were set to Spasticparaplegia6,autosomaldominant,600363; Spastic paraplegia 6, autosomal dominant",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.243941Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: MTPAP was added\ngene: MTPAP was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red\nMode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTPAP were set to Spastic ataxia 4, autosomal recessive; Ataxia, spastic, 4",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.200252Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: MARS2 was added\ngene: MARS2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red\nMode of inheritance for gene: MARS2 was set to \nPhenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.159727Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: MARS was added\ngene: MARS was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MARS were set to Novarino et al. (2014)",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.118618Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: MAG was added\ngene: MAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAG were set to 24482476; 26179919\nPhenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, 616680",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.077078Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: LYST was added\ngene: LYST was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature\nMode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LYST were set to 24521565\nPhenotypes for gene: LYST were set to spastic paraplegia",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:41.035659Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: L1CAM was added\ngene: L1CAM was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert list,Expert Review Green\nMode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: L1CAM were set to PMID: 7920659\nPhenotypes for gene: L1CAM were set to X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.985076Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: KLC4 was added\ngene: KLC4 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature\nMode of inheritance for gene: KLC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLC4 were set to 26423925\nPhenotypes for gene: KLC4 were set to spastic paraplegia",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.940681Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: KIF5A was added\ngene: KIF5A was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KIF5A were set to Reid et al. (2002)\nPhenotypes for gene: KIF5A were set to Spastic paraplegia 10, autosomal dominant",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.874876Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: KIF1C was added\ngene: KIF1C was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red\nMode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF1C were set to 17273843; 24482476; 24319291\nPhenotypes for gene: KIF1C were set to Spastic ataxia 2,autosomal recessive",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.830124Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: KIF1A was added\ngene: KIF1A was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF1A were set to Erlich et al. (2011)\nPhenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal recessive",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.769010Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: KIDINS220 was added\ngene: KIDINS220 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green\nMode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.719978Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: KDM5C was added\ngene: KDM5C was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature\nMode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: KDM5C were set to 26919706; 15586325; 10982473\nPhenotypes for gene: KDM5C were set to Intellectual disability; progressive spasticity; epilepsy; hypothyroidism; developmental delay",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.670402Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: IBA57 was added\ngene: IBA57 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IBA57 were set to 30258207; 25609768\nPhenotypes for gene: IBA57 were set to ?Spastic paraplegia 74, autosomal recessive, 616451",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.625270Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: HSPD1 was added\ngene: HSPD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: HSPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HSPD1 were set to Hansen et al. (2002)\nPhenotypes for gene: HSPD1 were set to Spastic paraplegia 13, autosomal dominant",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.570694Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: HACE1 was added\ngene: HACE1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature\nMode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HACE1 were set to 26437029; 26424145\nPhenotypes for gene: HACE1 were set to psychomotor retardation; Spastic paraplegia; seizure",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.524787Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: GJC2 was added\ngene: GJC2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Red\nMode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GJC2 were set to Orthmann-Murphy et al. (2009)\nPhenotypes for gene: GJC2 were set to Spastic paraplegia 44, autosomal recessive",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.413695Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: GCH1 was added\ngene: GCH1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: GCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GCH1 were set to 21935284; 24509643\nPhenotypes for gene: GCH1 were set to progressive spastic paraplegia; Spastic paraplegia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dystonia",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.365368Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: GBA2 was added\ngene: GBA2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green\nMode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GBA2 were set to Martin et al. (2013)\nPhenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.319302Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: GAD1 was added\ngene: GAD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red\nMode of inheritance for gene: GAD1 was set to \nPhenotypes for gene: GAD1 were set to Cerebralpalsy,spasticquadriplegic,1,603513",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.273933Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: FARS2 was added\ngene: FARS2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature\nMode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FARS2 were set to 29126765; 26553276; 25851414; 30250868\nPhenotypes for gene: FARS2 were set to Spastic paraplegia 77, autosomal recessive, 617046",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.233290Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: FA2H was added\ngene: FA2H was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green\nMode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FA2H were set to Edvardson et al. (2008)\nPhenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.191035Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ERLIN2 was added\ngene: ERLIN2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green\nMode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ERLIN2 were set to 27824013; 23085305; 21330303; 23109142; 28832565; 23897027; 22554690; 25977983; 23109145; 21796390; 29528531\nPhenotypes for gene: ERLIN2 were set to Spastic paraplegia 18, autosomal recessive, 611225; neurodegeneration; hereditary spastic paraplegia; Spastic paraplegia, autosomal dominant",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.151347Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ERLIN1 was added\ngene: ERLIN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Red\nMode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERLIN1 were set to 24482476\nPhenotypes for gene: ERLIN1 were set to Hereditary spastic paraplegia",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.114020Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ENTPD1 was added\ngene: ENTPD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red\nMode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ENTPD1 were set to Novarino et al. (2014)\nPhenotypes for gene: ENTPD1 were set to Spasticparaplegia64,615683",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.073747Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: DSTYK was added\ngene: DSTYK was added to Hereditary spastic paraplegia - childhood onset. Sources: Other\nMode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DSTYK were set to 28157540\nPhenotypes for gene: DSTYK were set to Spastic paraplegia 23, 270750",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.040762Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: DDHD2 was added\ngene: DDHD2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green\nMode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDHD2 were set to Schuurs-Hoeijmakers et al. (2012)\nPhenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:40.002396Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: DDHD1 was added\ngene: DDHD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green\nMode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDHD1 were set to Tesson et al. (2012)\nPhenotypes for gene: DDHD1 were set to Spastic paraplegia 28, autosomal recessive",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.949730Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: DARS was added\ngene: DARS was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature\nMode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DARS were set to 25527264; 23643384\nPhenotypes for gene: DARS were set to leg spasticity; Brain stem and spinal cord Hypomyelination",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.907298Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: CYP7B1 was added\ngene: CYP7B1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP7B1 were set to Tsaousidou et al. (2008) i\nPhenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.862947Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: CYP2U1 was added\ngene: CYP2U1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green\nMode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP2U1 were set to Tesson et al. (2012)\nPhenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.821935Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: CYP27A1 was added\ngene: CYP27A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature\nMode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP27A1 were set to 25862734\nPhenotypes for gene: CYP27A1 were set to progressive lower extremity spasticity,often disproportionate to any degree of weakness",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.783803Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: CDK16 was added\ngene: CDK16 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: CDK16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: CDK16 were set to 25644381; 26350204\nPhenotypes for gene: CDK16 were set to Intellectual disability and spastic paraplegia",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.742765Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: CCT5 was added\ngene: CCT5 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia; Sensory Neuropathy with Spastic Paraplegia",
"entity_name": "CCT5",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.697767Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: CAPN1 was added\ngene: CAPN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CAPN1 were set to Spastic paraplegia 76 autosomal recessive, 616907",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.655619Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: C19orf12 was added\ngene: C19orf12 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C19orf12 were set to Landoure (2013)",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.617707Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: C12orf65 was added\ngene: C12orf65 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green\nMode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C12orf65 were set to Shimazaki et al. (2012)\nPhenotypes for gene: C12orf65 were set to Spasticparaplegia55,autosomalrecessive,615035",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.577008Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: BSCL2 was added\ngene: BSCL2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green\nMode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BSCL2 were set to Windpassinger et al. (2004)\nPhenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome,",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.534273Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: B4GALNT1 was added\ngene: B4GALNT1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green\nMode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B4GALNT1 were set to Boukhris et al. (2013)\nPhenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.491845Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ATP13A2 was added\ngene: ATP13A2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature\nMode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP13A2 were set to 28137957\nPhenotypes for gene: ATP13A2 were set to Adult-onset lower-limb predominant spastic paraparesis",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.447714Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ATL1 was added\ngene: ATL1 was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ATL1 were set to PMID: 11685207\nPhenotypes for gene: ATL1 were set to Spastic paraplegia 3A, autosomal dominant; Spastic paraplegia 3A, autosomal dominant,; Spastic Paraplegia, Dominant",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.396351Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ARSI was added\ngene: ARSI was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: ARSI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARSI were set to Novarino et al. (2014)",
"entity_name": "ARSI",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.358569Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ARL6IP1 was added\ngene: ARL6IP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL6IP1 were set to Novarino et al. (2014)",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.320963Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ARG1 was added\ngene: ARG1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature\nMode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARG1 were set to 23859858; 26310552\nPhenotypes for gene: ARG1 were set to Argininaemia; Progressive spastic tetraplegia",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.281857Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: AP5Z1 was added\ngene: AP5Z1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP5Z1 were set to Slabicki et al. (2010) i\nPhenotypes for gene: AP5Z1 were set to Spastic paraplegia 48, autosomal recessive; Spastic Paraplegia, Recessive",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.236813Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: AP4S1 was added\ngene: AP4S1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green\nMode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4S1 were set to Abou Jamra et al. (2011)\nPhenotypes for gene: AP4S1 were set to seizures; developmental delay; Spastic paraplegia 52, autosomal recessive",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.194499Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: AP4M1 was added\ngene: AP4M1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green\nMode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4M1 were set to Verkerk et al. (2009)\nPhenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.152082Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: AP4E1 was added\ngene: AP4E1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green\nMode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4E1 were set to Moreno-De-Luca et al. (2011)\nPhenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.111266Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: AP4B1 was added\ngene: AP4B1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green\nMode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4B1 were set to Abou Jamra et al. (2011) i\nPhenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.067056Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: AMPD2 was added\ngene: AMPD2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMPD2 were set to Novarino et al. (2014)\nPhenotypes for gene: AMPD2 were set to Pontocerebellar hypolplasia (biallelic); Hereditary Spastic Paraplegia?",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:39.027674Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ALS2 was added\ngene: ALS2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALS2 were set to 12145748\nPhenotypes for gene: ALS2 were set to 607225",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:38.988763Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ALDH18A1 was added\ngene: ALDH18A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green,Literature\nMode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH18A1 were set to ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3; Spastic paraplegia 9A, autosomal dominant",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:38.945594Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: AIMP1 was added\ngene: AIMP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AIMP1 were set to 21092922\nPhenotypes for gene: AIMP1 were set to 260600",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:38.903075Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: AFG3L2 was added\ngene: AFG3L2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green\nMode of inheritance for gene: AFG3L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AFG3L2 were set to Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:38.860530Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ADAR was added\ngene: ADAR was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAR were set to 25243380\nPhenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2018-12-19T15:11:38.819120Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ABCD1 was added\ngene: ABCD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature\nMode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: ABCD1 were set to adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2018-12-17T16:37:42.759961Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.5",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from Childhood onset hereditary spastic paraplegia; GMS R61 to Childhood onset hereditary spastic paraplegia",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:24:42.101234Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to Childhood onset hereditary spastic paraplegia; GMS R61",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T12:45:19.816691Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.1",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T12:45:09.032263Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Added Panel Hereditary spastic paraplegia - childhood onset\nSet panel types to: GMS Rare Disease Virtual",
"entity_name": null,
"entity_type": null
}
]