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[
{
"created": "2024-03-28T12:08:13.129092Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.332",
"user_name": "Evan Reid",
"item_type": "entity",
"text": "reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMC10844931; Phenotypes: Adult onset cerebellar ataxia, adult onsent episodic ataxia, cerebellar oculomotor disturbances, vestibulopathy, peripheral neuropathy, dysautonomia, spasticity, parkinsonism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2024-01-23T16:09:18.670126Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.332",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PRICKLE1 were changed from Progressive Myoclonus Epilepsy with Ataxia to Epilepsy, progressive myoclonic 1B, OMIM:612437",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-10-18T10:42:37.819826Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.331",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2023-09-12T10:23:36.493682Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.331",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:32:02.592363Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.331",
"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 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": "2023-07-25T15:44:28.948294Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.330",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: As reviewed by Irina Ziravecka, there are nine children from eight unrelated families reported with heterozygous de novo variants in DAGLA gene and presenting with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. All nine children had ataxia and the age of these children ranged between 4 and 15 years of age. In addition, the functional data suggests potential mechanisms include DAGLA haploinsufficiency at the plasma membrane or dominant negative effect (PMID:35737950).\r\n\r\nThis gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.; to: As reviewed by Irina Ziravecka, there are nine children from eight unrelated families reported with heterozygous de novo variants in DAGLA gene and presenting with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. All nine children had ataxia and the age of these children ranged between 4 and 15 years of age. In addition, the functional data suggests potential mechanisms include DAGLA haploinsufficiency at the plasma membrane or dominant negative effect (PMID:35737950).\r\n\r\nThis gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.",
"entity_name": "DAGLA",
"entity_type": "gene"
},
{
"created": "2023-07-25T13:53:15.310103Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.330",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: DAGLA as Green List (high evidence)",
"entity_name": "DAGLA",
"entity_type": "gene"
},
{
"created": "2023-07-25T13:53:15.306208Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.330",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There are eight unrelated cases associating monoallelic variants in DAGLA with ataxia. Hence, this gene can be rated Green.",
"entity_name": "DAGLA",
"entity_type": "gene"
},
{
"created": "2023-07-25T13:53:15.283634Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.330",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: dagla has been classified as Green List (High Evidence).",
"entity_name": "DAGLA",
"entity_type": "gene"
},
{
"created": "2023-07-25T13:52:42.328405Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.329",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: DAGLA were changed from developmental delay; ataxia; complex oculomotor abnormality to Ataxia, HP:0001251",
"entity_name": "DAGLA",
"entity_type": "gene"
},
{
"created": "2023-07-25T13:52:33.165590Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.328",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: DAGLA was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "DAGLA",
"entity_type": "gene"
},
{
"created": "2023-07-25T13:52:26.303625Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.327",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: DAGLA were set to PMID: 35737950",
"entity_name": "DAGLA",
"entity_type": "gene"
},
{
"created": "2023-07-25T13:52:09.142720Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.326",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: DAGLA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 35737950; Phenotypes: Ataxia, HP:0001251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DAGLA",
"entity_type": "gene"
},
{
"created": "2023-07-17T06:02:38.143456Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.326",
"user_name": "Irina Ziravecka",
"item_type": "entity",
"text": "gene: DAGLA was added\ngene: DAGLA was added to Hereditary ataxia. Sources: Literature\nMode of inheritance for gene: DAGLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DAGLA were set to PMID: 35737950\nPhenotypes for gene: DAGLA were set to developmental delay; ataxia; complex oculomotor abnormality\nMode of pathogenicity for gene: DAGLA was set to Other\nReview for gene: DAGLA was set to GREEN\nAdded comment: PMID: 35737950 - nine children from eight families with heterozygous, de novo truncating variants in the last exon of DAGLA with a neuro-ocular phenotype. \nSources: Literature",
"entity_name": "DAGLA",
"entity_type": "gene"
},
{
"created": "2023-07-03T16:47:17.587951Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.326",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: DMXL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2023-07-03T16:43:48.360607Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.325",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: DMXL2 were set to 27657680; 22875945; 25248098",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2023-07-03T16:43:31.903469Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.324",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DMXL2 were changed from ?Polyendocrine-polyneuropathy syndrome , OMIM:616113 to ?Polyendocrine-polyneuropathy syndrome, OMIM:616113",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2023-07-03T16:43:16.360987Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.323",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DMXL2 were changed from Sensorineural Hearing Loss; ORPHA90636; OMIM:612186 to ?Polyendocrine-polyneuropathy syndrome , OMIM:616113",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2023-07-03T16:43:04.219713Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.322",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: DMXL2 as Red List (low evidence)",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2023-07-03T16:43:04.215997Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.322",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Amber to Red. Ataxia (onset in adolescence) has only been reported in one consanguineous family to date (PMID: 25248098) and this finding has not since been replicated. Therefore demoting the gene rating, inline with review by Dmitrijs Rots.",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2023-07-03T16:43:04.175580Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.322",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: dmxl2 has been classified as Red List (Low Evidence).",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2023-04-11T11:50:52.202066Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.321",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPG7 was changed from BOTH monoallelic and 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": "2023-04-11T11:21:15.434700Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.320",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: SPG7 were set to PMID: 25681447",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-04-11T11:20:53.341272Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.319",
"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, autosomal or pseudoautosomal",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-04-11T11:17:52.104748Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.318",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: SPG7: Rating: ; Mode of pathogenicity: None; Publications: 9635427, 16534102, 17646629, 18200586, 20186691, 22571692; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-04-11T09:34:56.353208Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.318",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-04-04T17:00:41.157597Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.317",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: NFASC: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants have been reported in three cases of OMIM:618356, where early onset ataxia is part of the phenotype (PMID: 30850329, 31608123, 31501903).; Changed rating: GREEN",
"entity_name": "NFASC",
"entity_type": "gene"
},
{
"created": "2023-04-04T16:43:15.870147Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.317",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: NFASC as Green List (high evidence)",
"entity_name": "NFASC",
"entity_type": "gene"
},
{
"created": "2023-04-04T16:43:15.867310Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.317",
"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": "NFASC",
"entity_type": "gene"
},
{
"created": "2023-04-04T16:43:15.846182Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.317",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: nfasc has been classified as Green List (High Evidence).",
"entity_name": "NFASC",
"entity_type": "gene"
},
{
"created": "2023-04-04T15:54:28.034948Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.316",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: NFASC were set to PMID: 30850329, 31608123, 31501903",
"entity_name": "NFASC",
"entity_type": "gene"
},
{
"created": "2023-04-04T15:54:09.163503Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.315",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: NFASC were changed from Cerebellar ataxia, Demyelinating neuropathy to Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356; neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:0032698",
"entity_name": "NFASC",
"entity_type": "gene"
},
{
"created": "2023-03-23T10:37:22.092779Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.314",
"user_name": "Edoardo Monfrini",
"item_type": "entity",
"text": "gene: NFASC was added\ngene: NFASC was added to Hereditary ataxia. Sources: Literature\nMode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFASC were set to PMID: 30850329, 31608123, 31501903\nPhenotypes for gene: NFASC were set to Cerebellar ataxia, Demyelinating neuropathy\nPenetrance for gene: NFASC were set to Complete\nReview for gene: NFASC was set to GREEN\ngene: NFASC was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "NFASC",
"entity_type": "gene"
},
{
"created": "2023-01-17T15:00:00.908345Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.314",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous UCHL1 variants have been reported, including 13 heterozygous loss-of-function variants (15 families) and a heterozygous inframe insertion (3 families) in PMID: 35986737. These affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17), it was also noted in PMID: 35986737 that the condition onset in dominant cases was median 49 years (12-70 years) and in recessive was 7.5 years (2-10 years).; to: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous UCHL1 variants have been reported, including 13 heterozygous loss-of-function variants (15 families) and a heterozygous inframe insertion (3 families) in PMID: 35986737. The affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17), it was also noted in PMID: 35986737 that the condition onset in dominant cases was median 49 years (12-70 years) and in recessive was 7.5 years (2-10 years).",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-01-17T14:55:38.717934Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.314",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: UCHL1: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous UCHL1 variants have been reported, including 13 heterozygous loss-of-function variants (15 families) and a heterozygous inframe insertion (3 families) in PMID: 35986737. These affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17), it was also noted in PMID: 35986737 that the condition onset in dominant cases was median 49 years (12-70 years) and in recessive was 7.5 years (2-10 years).; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-01-17T14:47:21.233260Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.314",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: In addition to previous reports of Spastic paraplegia 79, autosomal recessive\t(OMIM:615491), PMID: 35986737 reports a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy in cases with heterozygous loss of function UCHL1 variants.",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-01-17T14:47:21.197832Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.314",
"user_name": "Sarah Leigh",
"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": "2023-01-13T15:34:43.676155Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.313",
"user_name": "Samuel McCall",
"item_type": "entity",
"text": "reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35986737; Phenotypes: spasticity, ataxia, neuropathy, optic atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-01-08T15:25:31.872811Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.313",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2022-12-01T17:31:55.830463Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.313",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: All cases reported to date have been associated with recessive inheritance with the exception of one family with \"one potential heterozygous mutation\" reported in 2017 (PMID: 28960046). As no further monoallelic cases have been reported since, updating the MOI from 'both mono- and biallelic' to 'biallelic' only until further evidence emerges supporting pathogenicity of heterozygous variants in this gene.",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2022-12-01T17:31:55.808146Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.313",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2022-11-14T10:56:09.642756Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.312",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: FMR1 as Red List (low evidence)",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2022-11-14T10:56:09.639568Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.312",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Green to Red as the disease mechanism is repeat expansion and SNVs are not relevant to FXTAS.",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2022-11-14T10:56:09.609882Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.312",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: fmr1 has been classified as Red List (Low Evidence).",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2022-11-01T16:48:35.816863Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.311",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Updated from 'biallelic' to 'both mono- and biallelic'. At least two unrelated cases in literature characterised by AD adult-onset ataxia and supported by functional data, plus additional patients mentioned in Tracy Lester patient cohort.",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2022-11-01T16:48:35.802903Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.311",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRM1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2022-11-01T16:48:22.221410Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.310",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901947, 26308914, 31319223, 36140834, 28886343; Phenotypes: Spinocerebellar ataxia 44, OMIM:617691, Spinocerebellar ataxia, autosomal recessive 13, OMIM:614831; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2022-11-01T16:43:19.188473Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.310",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: GRM1 were set to ",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2022-11-01T15:45:34.228219Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.309",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GRM1 were changed from Spinocerebellar ataxia, autosomal recessive 13 to Spinocerebellar ataxia 44, OMIM:617691; Spinocerebellar ataxia, autosomal recessive 13, OMIM:614831",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2022-09-13T11:58:04.395290Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.308",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous STUB1 variants have been reported in both Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 and Spinocerebellar ataxia 48, OMIM:618093. PMIDs 34906452; 35493319 report digenic occurrence of heterozygous STUB1 variants, with TBP_CAG expansions of 41-46. They question the validy of Spinocerebellar ataxia 48 (OMIM:618093) as a condition and whether it should be included into Spinocerebellar ataxia 17 (OMIM:607136).",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2022-09-13T11:58:04.367410Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.308",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: STUB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2022-09-13T11:26:13.883279Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.307",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for STR: TBP_CAG were set to 20301611",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2022-09-13T10:07:19.406456Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.306",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: STUB1 were changed from Spinocerebellar ataxia, autosomal recessive 16 to Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768; autosomal recessive spinocerebellar ataxia 16, MONDO:0014339; Spinocerebellar ataxia 48, OMIM:618093; spinocerebellar ataxia 48, MONDO:0032526",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2022-09-13T10:01:13.402841Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.305",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: STUB1 were set to ",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2022-08-23T10:47:06.716532Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.304",
"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": "2022-05-23T13:51:38.503992Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.303",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: MARS2 were changed from Spastic ataxia 3, autosomal recessive to Spastic ataxia 3, autosomal recessive, OMIM:611390",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2022-05-08T14:34:23.602004Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.302",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: MT-ATP6.",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2022-04-25T10:16:26.969076Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.302",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "reviewed gene: FMR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2022-04-19T12:39:42.972436Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.302",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: SETX were changed from ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia; Ataxia-ocular apraxia-2 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2022-04-19T12:39:23.913339Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.301",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: SETX: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2022-04-19T12:03:03.860734Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.301",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AFG3L2 were changed from Spinocerebellar ataxia 28; Ataxia, spastic, 5, autosomal recessive; Spinocerebellar Ataxia, Dominant to Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:54:06.726898Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.300",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SPTBN2 were changed from Spinocerebellar ataxia 5; Spinocerebellar ataxia, autosomal recessive 14; Spinocerebellar Ataxia, Dominant; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant); SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 to Spinocerebellar ataxia 5, OMIM:600224; Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2022-03-16T13:27:04.848074Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.299",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on Region: ISCA-37478-Gain",
"entity_name": "ISCA-37478-Gain",
"entity_type": "region"
},
{
"created": "2022-03-16T12:54:25.263224Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.299",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on Region: ISCA-37404-Loss",
"entity_name": "ISCA-37404-Loss",
"entity_type": "region"
},
{
"created": "2022-03-16T12:21:54.517950Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.299",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on Region: ISCA-37478-Loss",
"entity_name": "ISCA-37478-Loss",
"entity_type": "region"
},
{
"created": "2022-03-16T10:20:49.699819Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.299",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "GRCh38 position for ISCA-37478-Loss was changed from 23513243-28312040 to 23465365-28134728.\nRequired Overlap Percentage for ISCA-37478-Loss was changed from 80 to 60.",
"entity_name": "ISCA-37478-Loss",
"entity_type": "region"
},
{
"created": "2022-03-16T10:20:49.625536Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.299",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "GRCh38 position for ISCA-37478-Gain was changed from 23513243-28312040 to 23465365-28134728.\nRequired Overlap Percentage for ISCA-37478-Gain was changed from 80 to 60.",
"entity_name": "ISCA-37478-Gain",
"entity_type": "region"
},
{
"created": "2022-03-16T10:20:49.541201Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.299",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "GRCh38 position for ISCA-37404-Loss was changed from 22782170-28134729 to 22782170-28134728.\nRequired Overlap Percentage for ISCA-37404-Loss was changed from 80 to 60.",
"entity_name": "ISCA-37404-Loss",
"entity_type": "region"
},
{
"created": "2022-03-15T16:02:18.230750Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.298",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on STR: HTT_CAG",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T15:59:13.261662Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.298",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on STR: TBP_CAG",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T15:39:24.507922Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.298",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on STR: PPP2R2B_CAG",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T15:35:39.027303Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.298",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on STR: NOP56_GGCCTG",
"entity_name": "NOP56_GGCCTG",
"entity_type": "str"
},
{
"created": "2022-03-15T13:03:53.158137Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.298",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on STR: FXN_GAA",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2022-03-15T12:56:57.288448Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.298",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on STR: CSTB_CCCCGCCCCGCG",
"entity_name": "CSTB_CCCCGCCCCGCG",
"entity_type": "str"
},
{
"created": "2022-03-15T12:51:18.109169Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.298",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on STR: FMR1_CGG",
"entity_name": "FMR1_CGG",
"entity_type": "str"
},
{
"created": "2022-03-15T12:47:18.575077Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.298",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on STR: CACNA1A_CAG",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T12:22:20.657196Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.298",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on STR: ATXN7_CAG",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T12:13:50.095898Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.298",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ATXN3",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:13:47.137556Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.298",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ATXN3",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:13:30.331102Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.298",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on STR: ATXN3_CAG",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T12:03:21.965088Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.298",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: ATXN3",
"entity_name": "ATXN3",
"entity_type": "gene"
},
{
"created": "2022-03-15T11:47:07.313986Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.298",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on STR: ATXN2_CAG",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T11:44:34.310894Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.298",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on STR: ATXN10_ATTCT",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2022-03-15T11:42:25.346682Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.298",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on STR: ATXN1_CAG",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2022-03-15T11:39:27.639237Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.298",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on STR: ATN1_CAG",
"entity_name": "ATN1_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:12:39.851821Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.298",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified STR: HTT_CAG as Green List (high evidence)",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:12:39.839853Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.298",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Str: htt_cag has been classified as Green List (High Evidence).",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:12:20.826695Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.297",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified STR: TBP_CAG as Green List (high evidence)",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:12:20.817878Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.297",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Str: tbp_cag has been classified as Green List (High Evidence).",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:11:55.738716Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.296",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified STR: PPP2R2B_CAG as Green List (high evidence)",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:11:55.731485Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.296",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Str: ppp2r2b_cag has been classified as Green List (High Evidence).",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:11:04.567963Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.295",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified STR: NOP56_GGCCTG as Green List (high evidence)",
"entity_name": "NOP56_GGCCTG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:11:04.561424Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.295",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Str: nop56_ggcctg has been classified as Green List (High Evidence).",
"entity_name": "NOP56_GGCCTG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:10:26.378425Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.294",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified STR: FXN_GAA as Green List (high evidence)",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2022-03-10T17:10:26.371925Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.294",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Str: fxn_gaa has been classified as Green List (High Evidence).",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2022-03-10T17:09:38.460843Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.293",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)",
"entity_name": "CSTB_CCCCGCCCCGCG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:09:38.454334Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.293",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).",
"entity_name": "CSTB_CCCCGCCCCGCG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:09:00.483174Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.292",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified STR: CACNA1A_CAG as Green List (high evidence)",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:09:00.475786Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.292",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Str: cacna1a_cag has been classified as Green List (High Evidence).",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:08:17.571672Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.291",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified STR: ATXN7_CAG as Green List (high evidence)",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:08:17.562871Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.291",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Str: atxn7_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:06:46.324074Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.290",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified STR: ATXN3_CAG as Green List (high evidence)",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:06:46.316725Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.290",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Str: atxn3_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:06:20.819198Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.289",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified STR: ATXN2_CAG as Green List (high evidence)",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:06:20.813159Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.289",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Str: atxn2_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:05:55.503638Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.288",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified STR: ATXN10_ATTCT as Green List (high evidence)",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2022-03-10T17:05:55.496934Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.288",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Str: atxn10_attct has been classified as Green List (High Evidence).",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2022-03-10T17:05:25.005201Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.287",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified STR: ATXN1_CAG as Green List (high evidence)",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:05:24.994114Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.287",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Str: atxn1_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:04:56.505731Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.286",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified STR: ATN1_CAG as Green List (high evidence)",
"entity_name": "ATN1_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:04:56.499001Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.286",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Str: atn1_cag has been classified as Green List (High Evidence).",
"entity_name": "ATN1_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:56.457809Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.283",
"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.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:55.779339Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.283",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source NHS GMS was added to STR: TBP_CAG.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:54.438754Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.283",
"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.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "PPP2R2B_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:53.931590Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.283",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source NHS GMS was added to STR: NOP56_GGCCTG.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "NOP56_GGCCTG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:52.316053Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.283",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source NHS GMS was added to STR: FXN_GAA.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:51.385103Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.283",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source NHS GMS was added to STR: FMR1_CGG.",
"entity_name": "FMR1_CGG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:48.719634Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.283",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.\nSource NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "CSTB_CCCCGCCCCGCG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:47.644888Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.283",
"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.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "CACNA1A_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:45.819421Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.283",
"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.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:44.964836Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.283",
"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.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:44.035799Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.283",
"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.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:42.242539Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.283",
"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.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:40.419088Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.283",
"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.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:39.903975Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.283",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.\nSource NHS GMS was added to STR: ATN1_CAG.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "ATN1_CAG",
"entity_type": "str"
},
{
"created": "2022-01-10T15:07:39.945718Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.282",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MVK were changed from Mevalonic aciduria 610377 to Mevalonic aciduria, OMIM:610377",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2021-12-13T15:29:46.221059Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.281",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms, 268800 to Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2021-11-23T13:12:05.665058Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.280",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia, type 1B, 614678 to Pontocerebellar hypoplasia, type 1B, OMIM:614678",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2021-11-11T09:44:20.185907Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.279",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: NOP56_GGCCTG were changed from Spinocerebellar ataxia 36 614153 to Spinocerebellar ataxia 36, OMIM:614153",
"entity_name": "NOP56_GGCCTG",
"entity_type": "str"
},
{
"created": "2021-11-11T09:18:02.880938Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.278",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: NOP56 were changed from Spinocerebellarataxia36,614153 to Spinocerebellar ataxia 36, OMIM:614153",
"entity_name": "NOP56",
"entity_type": "gene"
},
{
"created": "2021-11-10T17:51:03.317846Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.277",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism",
"entity_name": "PPP2R2B",
"entity_type": "gene"
},
{
"created": "2021-11-10T17:51:03.299840Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.277",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP2R2B was changed from to Other",
"entity_name": "PPP2R2B",
"entity_type": "gene"
},
{
"created": "2021-11-10T17:49:43.659216Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.276",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PPP2R2B were changed from Spinocerebellarataxia12,604326 to Spinocerebellar ataxia 12, OMIM:604326",
"entity_name": "PPP2R2B",
"entity_type": "gene"
},
{
"created": "2021-11-10T17:49:36.627158Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.275",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: PPP2R2B.",
"entity_name": "PPP2R2B",
"entity_type": "gene"
},
{
"created": "2021-11-10T16:42:46.903378Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.275",
"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": "2021-11-10T16:37:58.280735Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.274",
"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": "2021-11-10T16:33:26.033772Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.273",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism",
"entity_name": "TBP",
"entity_type": "gene"
},
{
"created": "2021-11-10T16:33:26.009718Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.273",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBP was changed from to Other",
"entity_name": "TBP",
"entity_type": "gene"
},
{
"created": "2021-11-10T16:29:58.569902Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.272",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TBP were changed from Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600 to Spinocerebellar ataxia 17, OMIM:607136",
"entity_name": "TBP",
"entity_type": "gene"
},
{
"created": "2021-11-10T14:41:31.166575Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.271",
"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": "2021-11-10T12:24:17.048344Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.270",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: FMR1_CGG were changed from Fragile X syndrome 300624 to Fragile X tremor/ataxia syndrome, OMIM:300623",
"entity_name": "FMR1_CGG",
"entity_type": "str"
},
{
"created": "2021-11-10T12:08:23.958969Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.269",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: FMR1 were changed from FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI); FragileXtremor/ataxiasyndrome,300623; males with a tremor phenotype to Fragile X tremor/ataxia syndrome, OMIM:300623",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:52:46.937525Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.268",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism",
"entity_name": "ATXN1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:52:46.913728Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.268",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATXN1 was changed from to Other",
"entity_name": "ATXN1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:50:30.221062Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.267",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATXN1 were changed from Spinocerebellarataxia1,164400 to Spinocerebellar ataxia 1, OMIM:164400",
"entity_name": "ATXN1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:47:28.605205Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.266",
"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": "2021-11-09T15:14:08.939967Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.265",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag nucleotide-repeat-expansion tag was added to gene: CSTB.",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-11-09T15:03:02.357733Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.265",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: CSTB as Green List (high evidence)",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-11-09T15:03:02.354316Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.265",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Upgraded from Red to Green as ataxia is a common part of the phenotype. This also reflects the current rating on GMS ataxia panels.",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-11-09T15:03:02.325332Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.265",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: cstb has been classified as Green List (High Evidence).",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-11-09T14:59:59.748212Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.264",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CSTB were changed from Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-11-09T14:48:29.397761Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.263",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: CSTB_CCCCGCCCCGCG were changed from Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800",
"entity_name": "CSTB_CCCCGCCCCGCG",
"entity_type": "str"
},
{
"created": "2021-11-08T14:01:17.938311Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.262",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag nucleotide-repeat-expansion was removed from gene: CACNA1A.",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:00:03.424326Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.262",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1A were changed from Episodic ataxia, type 2; Spinocerebellar ataxia 6; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia to Episodic ataxia, type 2, OMIM:108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:15:17.779901Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.261",
"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": "2021-11-05T16:53:03.821725Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.260",
"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": "2021-11-05T16:48:13.909748Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.259",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATXN7 were changed from Spinocerebellarataxia7,164500 to Spinocerebellar ataxia 7, OMIM:164500",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2021-11-05T16:39:33.406934Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.258",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2021-11-05T16:39:33.389514Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.258",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATXN7 was changed from to Other",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2021-11-05T16:34:02.658805Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.257",
"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": "2021-11-05T16:30:41.983842Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.256",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism",
"entity_name": "ATXN3",
"entity_type": "gene"
},
{
"created": "2021-11-05T16:30:41.966831Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.256",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATXN3 was changed from to Other",
"entity_name": "ATXN3",
"entity_type": "gene"
},
{
"created": "2021-11-05T16:28:41.041766Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.255",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATXN3 were changed from to Machado-Joseph disease, OMIM:109150",
"entity_name": "ATXN3",
"entity_type": "gene"
},
{
"created": "2021-11-05T16:04:18.901409Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.254",
"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",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2021-11-05T15:56:31.386491Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.253",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism",
"entity_name": "ATXN2",
"entity_type": "gene"
},
{
"created": "2021-11-05T15:56:31.368136Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.253",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATXN2 was changed from to Other",
"entity_name": "ATXN2",
"entity_type": "gene"
},
{
"created": "2021-11-05T15:49:59.379378Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.252",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATXN2 were changed from Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090 to Spinocerebellar ataxia 2, OMIM:183090",
"entity_name": "ATXN2",
"entity_type": "gene"
},
{
"created": "2021-11-05T15:23:58.587543Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.251",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10 603516 to Spinocerebellar ataxia 10, OMIM:603516",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2021-11-05T15:16:39.242725Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.250",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: ATXN10.",
"entity_name": "ATXN10",
"entity_type": "gene"
},
{
"created": "2021-11-05T13:45:42.903231Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.250",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism",
"entity_name": "ATXN10",
"entity_type": "gene"
},
{
"created": "2021-11-05T13:45:42.878763Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.250",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATXN10 was changed from to Other",
"entity_name": "ATXN10",
"entity_type": "gene"
},
{
"created": "2021-11-05T13:40:26.746404Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.249",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATXN10 were changed from Spinocerebellarataxia10,603516 to Spinocerebellar ataxia 10, OMIM:603516",
"entity_name": "ATXN10",
"entity_type": "gene"
},
{
"created": "2021-11-05T10:03:16.251824Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.248",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370",
"entity_name": "ATN1_CAG",
"entity_type": "str"
},
{
"created": "2021-11-05T09:59:32.793947Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.247",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATN1 were changed from to Dentatorubral-pallidoluysian atrophy, OMIM:125370",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:05:10.232968Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.246",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:05:10.205472Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.246",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATN1 was changed from Other - please specifiy in evaluation comments to Other",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2021-10-18T10:26:14.168553Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.245",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, 304340 to Pettigrew syndrome, OMIM:304340",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2021-10-15T13:39:04.505116Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.244",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CLCN2 were changed from Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 to Leukoencephalopathy with ataxia, OMIM:615651",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2021-10-15T10:48:14.221601Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.243",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: CLCN2 were set to 23707145; 19191339",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2021-10-15T10:42:07.080316Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.242",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: MOI has been changed from 'Both mono- and biallelic' to 'Biallelic' only. Ataxia is a frequent feature of CLCN2-related Leukoencephalopathy (MIM# 615651) which is caused by biallelic variants. Autosomal dominant pathogenic variants are also associated with hyperaldosteronism (MIM# 605635) and susceptibility to idiopathic epilepsy (MIM# 607628) but neither of these phenotypes include ataxia.",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2021-10-15T10:42:07.052306Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.242",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2021-08-25T13:36:09.209723Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.241",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: CHP1: Changed rating: AMBER; Changed publications to: 23904602, 29379881, 32787936; Changed phenotypes to: Spastic ataxia 9, autosomal recessive, OMIM:618438; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2021-08-25T13:35:36.185322Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.241",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: New gene added by Julia Baptista (RD&E_NHS). Rating Amber, awaiting further cases to better delineate phenotypes and for clarification regarding the age of onset.\r\n-----\r\nTwo unrelated families, each with two affected sibs presenting ataxia, associated with different biallelic variants in the CHP1 gene (PMID: 29379881; 32787936). Other features include intellectual disability (3/4), cerebellar atrophy (3/4), spastic paraplegia (3/4), and neuropathy (2/4).\r\n\r\nIn vitro studies of one variant showed mutant CHP1 fails to integrate into functional complexes and impairs membrane localisation of the Na+/H+ transporter NHE1. Zebrafish and mouse models recapitulate human phenotypes such as movement defects (including ataxia), cerebellar hypoplasia, and axon abnormalities (PMID: 23904602; 29379881). \r\n\r\nHowever, there are some notable differences between the two families. The age at onset differs considerably with one sib pair presenting with ataxia and cognitive decline in middle age (PMID: 32787936), in contrast to the other sibs who had infantile-onset ataxia and intellectual disability (PMID: 29379881).\r\n\r\nCHP1 has been added to both adult and childhood-onset ataxia GMS panels, but currently the evidence only suffices for an Amber rating for each (added watchlist tag).; to: Comment on list classification: New gene added by Julia Baptista (RD&E_NHS). Rating Amber, awaiting further cases to better delineate phenotypes and for clarification regarding the age of onset.\r\n-----\r\nTwo unrelated families, each with two affected sibs presenting ataxia, associated with different biallelic variants in the CHP1 gene (PMID: 29379881; 32787936). Other features include intellectual disability (3/4), cerebellar atrophy (3/4), spastic paraplegia (3/4), and neuropathy (2/4).\r\n\r\nIn vitro studies of one variant showed mutant CHP1 fails to integrate into functional complexes and impairs membrane localisation of the Na+/H+ transporter NHE1. Zebrafish and mouse models recapitulate human phenotypes such as movement defects (including ataxia), cerebellar hypoplasia, and axon abnormalities (PMID: 23904602; 29379881). \r\n\r\nHowever, there are some notable differences between the two families. The age at onset differs considerably with one sib pair presenting with ataxia and cognitive decline in middle age (PMID: 32787936), in contrast to the other sibs who had infantile-onset ataxia and intellectual disability (PMID: 29379881).\r\n\r\nCHP1 has been added to both adult and childhood-onset ataxia and spasticity GMS panels, but currently the evidence only suffices for an Amber rating for each (added watchlist tag).",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2021-08-25T13:33:56.790584Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.241",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: CHP1 were set to 32787936; 29379881",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2021-08-25T13:33:22.199569Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.240",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: CHP1.",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2021-08-25T13:33:10.535029Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.240",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: CHP1 as Amber List (moderate evidence)",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2021-08-25T13:33:10.516336Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.240",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Julia Baptista (RD&E_NHS). Rating Amber, awaiting further cases to better delineate phenotypes and for clarification regarding the age of onset.\r\n-----\r\nTwo unrelated families, each with two affected sibs presenting ataxia, associated with different biallelic variants in the CHP1 gene (PMID: 29379881; 32787936). Other features include intellectual disability (3/4), cerebellar atrophy (3/4), spastic paraplegia (3/4), and neuropathy (2/4).\r\n\r\nIn vitro studies of one variant showed mutant CHP1 fails to integrate into functional complexes and impairs membrane localisation of the Na+/H+ transporter NHE1. Zebrafish and mouse models recapitulate human phenotypes such as movement defects (including ataxia), cerebellar hypoplasia, and axon abnormalities (PMID: 23904602; 29379881). \r\n\r\nHowever, there are some notable differences between the two families. The age at onset differs considerably with one sib pair presenting with ataxia and cognitive decline in middle age (PMID: 32787936), in contrast to the other sibs who had infantile-onset ataxia and intellectual disability (PMID: 29379881).\r\n\r\nCHP1 has been added to both adult and childhood-onset ataxia GMS panels, but currently the evidence only suffices for an Amber rating for each (added watchlist tag).",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2021-08-25T13:33:10.461413Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.240",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: chp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2021-08-25T12:31:29.491153Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.239",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CHP1 were changed from ataxia; ID to Spastic ataxia 9, autosomal recessive, OMIM:618438",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2021-08-20T15:36:00.610581Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.238",
"user_name": "Julia Baptista",
"item_type": "entity",
"text": "gene: CHP1 was added\ngene: CHP1 was added to Hereditary ataxia. Sources: Literature\nMode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHP1 were set to 32787936; 29379881\nPhenotypes for gene: CHP1 were set to ataxia; ID\nReview for gene: CHP1 was set to AMBER\nAdded comment: Only 2 families reported to date. One additional unpublished family with ID, spasticity and severe disease course. \nSources: Literature",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2021-08-19T15:28:10.509945Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.238",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: NKX6-2 were changed from Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy\t617560 to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:54:01.790109Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.237",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: KIF1C were set to ",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2021-08-19T13:19:25.125031Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.236",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1C were changed from Spastic ataxia 2,autosomal recessive to Spastic ataxia 2, autosomal recessive, OMIM:611302",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:32:38.530760Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.235",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: MOI changed from \"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\" to \"X-LINKED: hemizygous mutation in males, biallelic mutations in females\" as there is no evidence that carrier females have ataxia.",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:32:38.511104Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.235",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCB7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-07-15T09:54:15.530136Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.234",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATM were changed from Ataxia-Telangiectasia ; Ataxia-telangiectasia, to Ataxia-telangiectasia, OMIM:208900",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-07-07T09:27:42.571940Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.233",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB7 were changed from Anemia, sideroblastic, with ataxia, ; Sideroblastic Anemia and Ataxia to Anemia, sideroblastic, with ataxia, OMIM:301310",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-06-30T16:52:05.229215Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.232",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: SAR1B as Amber List (moderate evidence)",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2021-06-30T16:52:05.226542Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.232",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Changing the rating of this gene from Green to amber. This is a disorder of fat malabsorption. Only 1 report of a case (PMID: 10665502) reported with a Marinesco-Sjogren syndrome diagnosis in which the siblings showed severe cerebellar ataxia with truncal and limb ataxia. See reviews on GMS Hereditary ataxia - adult onset and Ataxia and cerebellar anomalies - narrow panel.",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2021-06-30T16:52:05.205798Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.232",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: sar1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2021-06-28T15:37:47.929336Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.231",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: XRCC1: Changed rating: GREEN; Changed publications to: 28002403, 29472272; Changed phenotypes to: Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XRCC1",
"entity_type": "gene"
},
{
"created": "2021-06-28T15:36:08.149677Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.231",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: XRCC1 as Green List (high evidence)",
"entity_name": "XRCC1",
"entity_type": "gene"
},
{
"created": "2021-06-28T15:36:08.146823Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.231",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Following discussion with Helen Brittain (Genomics England Clinical Team) it was agreed that there is enough evidence to promote this gene from Red to Green. \r\n-----\r\nThree individuals from unrelated families all from South Asian descent with cerebellar ataxia and peripheral neuropathy and a recurrent variant (c.1293G>C, 2 homozygotes and a comp het) in the XRCC1 gene. Homozygosity mapping in 2 families confirmed a shared haplotype and the recurrent variant is found in a heterozygous state in an unaffected sib and 4 individuals of South Asian descent in ExAC - indicating that this is a founder variant that is pathogenic when in trans with a second variant. There is some strong functional evidence that supports pathogenicity, including an animal model that recapitulated human phenotypes such as cerebellar ataxia.",
"entity_name": "XRCC1",
"entity_type": "gene"
},
{
"created": "2021-06-28T15:36:08.111787Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.231",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: xrcc1 has been classified as Green List (High Evidence).",
"entity_name": "XRCC1",
"entity_type": "gene"
},
{
"created": "2021-06-28T15:33:57.532553Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.230",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag founder-effect tag was added to gene: XRCC1.",
"entity_name": "XRCC1",
"entity_type": "gene"
},
{
"created": "2021-06-28T15:20:32.282857Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.230",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: XRCC1 were set to 28002403",
"entity_name": "XRCC1",
"entity_type": "gene"
},
{
"created": "2021-06-28T15:19:08.518857Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.229",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC1 were changed from ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia to Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633",
"entity_name": "XRCC1",
"entity_type": "gene"
},
{
"created": "2021-06-27T14:49:45.582120Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.228",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "gene: NUS1 was added\ngene: NUS1 was added to Hereditary ataxia. Sources: Literature\nMode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NUS1 were set to 33731878; 32334381; 32485575; 31656175\nPhenotypes for gene: NUS1 were set to intellectual disability; seizures; ataxia; dystonia; tremor\nPenetrance for gene: NUS1 were set to Complete\nReview for gene: NUS1 was set to GREEN\nAdded comment: Multiple patients (see below) with de novo or heterozygous variants reported. The phenotype include ID, seizures and/or movement disorder (including tremor, ataxia, dystonia). Functional analysis of patients fibroblasts shows\"de novo NUS1 variants reduce NgBR and Niemann–Pick type C2 (NPC2) protein amount, impair dolichol biosynthesis, and cause lysosomal cholesterol accumulation.\" (Yu et al,m 2021). Movement abnormalities and similar metabolic dysfunction in zebrafish model.\r\n\r\n3 patients with ataxia reported in: PMID: 33731878 \r\nOne patient with dystonia reported in: PMID: 32334381 \r\nOne family with ataxia reported in: PMID: 32485575\r\nTwo cases with ataxia reported in: PMID: 31656175\r\n\r\nAdditionally, two cases from one family with homozygous missense variant, but NO ataxia is reported:PMID: 25066056 \nSources: Literature",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2021-06-21T13:10:43.689309Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.228",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: SCN8A is associated with a range of phenotypes including epilepsy, neurodevelopmental defects, and movement disorders. Some individuals with deleterious SCN8A variants develop ataxia - at least 14 individuals with ataxia reported in literature (see publications list). Variable age of onset including both childhood-onset and adult-onset cases. Mouse Scn8a mutants exhibit movement disorders including ataxia, tremor and dystonia.; to: SCN8A is associated with a range of phenotypes including epilepsy, neurodevelopmental defects, and movement disorders. Some individuals with deleterious SCN8A variants develop ataxia - at least 14 individuals with ataxia reported in literature (see publications list). Variable age of onset - mostly during childhood but adult-onset cases have also been described. Mouse Scn8a mutants exhibit movement disorders including ataxia, tremor and dystonia.",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2021-06-21T13:06:00.063327Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.228",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: SCN8A were set to ",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2021-06-21T13:05:51.402843Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.227",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: SCN8A as Green List (high evidence)",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2021-06-21T13:05:51.400038Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.227",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Upgraded from Red to Green - there is now a sufficient number of unrelated cases (>3) presenting ataxia in association with variants in the gene, supported by an animal model.",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2021-06-21T13:05:51.382616Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.227",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: scn8a has been classified as Green List (High Evidence).",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2021-06-21T13:04:14.494196Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.226",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16236810, 22365152, 25725044, 28702509, 31675620, 31887642; Phenotypes: Cognitive impairment with or without cerebellar ataxia, OMIM:614306, Developmental and epileptic encephalopathy 13, OMIM:614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2021-06-21T10:24:40.509670Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.226",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SCN8A were changed from Cognitive impairment with or without cerebellar ataxia, 614306 to Cognitive impairment with or without cerebellar ataxia, OMIM:614306; Developmental and epileptic encephalopathy 13, OMIM:614558",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2021-06-16T16:02:34.213654Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.225",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: RUBCN were set to PMID: 20826435",
"entity_name": "RUBCN",
"entity_type": "gene"
},
{
"created": "2021-06-16T16:00:03.607998Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.224",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: RUBCN: Rating: RED; Mode of pathogenicity: None; Publications: 20826435, 32450808; Phenotypes: Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RUBCN",
"entity_type": "gene"
},
{
"created": "2021-06-16T14:20:59.151341Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.224",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RUBCN were changed from to Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705",
"entity_name": "RUBCN",
"entity_type": "gene"
},
{
"created": "2021-05-19T11:01:17.365116Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.223",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753 to Pontocerebellar hypoplasia type 2A, OMIM:277470; Pontocerebellar hypoplasia type 4, OMIM:225753",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2021-05-19T10:32:28.306632Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.222",
"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": "2021-05-19T10:32:28.245744Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.222",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: POLR3K was added\ngene: POLR3K was added to Hereditary ataxia. 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": "2021-05-11T14:42:54.618995Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.221",
"user_name": "Sarah Leigh",
"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; Friedreich ataxia 1 MONDO:0100340",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2021-05-11T14:40:55.603027Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.220",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: FXN were changed from Friedreichataxia,229300Friedreichataxiawithretainedreflexes,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": "2021-05-11T10:12:29.339329Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.219",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: UCHL1 as Green List (high evidence)",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2021-05-11T10:12:29.335714Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.219",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Upgraded from Red to Green - ataxia and other cerebellar signs are a feature of this UCHL1-related neurodegenerative disorder. At least 4 unrelated families reported (PMIDs: 23359680; 28007905; 29735986; 32656641) with different biallelic variants, supported by functional and animal model data.",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2021-05-11T10:12:29.316726Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.219",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: uchl1 has been classified as Green List (High Evidence).",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2021-05-11T10:10:39.256384Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.218",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: UCHL1 were changed from Early onset ataxia and optic neuropathy to Spastic paraplegia 79, autosomal recessive, OMIM:615491",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2021-05-11T10:10:03.386372Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.217",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: UCHL1 were set to PMID: 23359680",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2021-05-11T10:09:15.874260Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.216",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359680, 28007905, 29735986, 32656641, 11555633, 33159930; Phenotypes: Spastic paraplegia 79, autosomal recessive, OMIM:615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2021-04-21T15:53:20.461324Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.216",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: EEF2 as Amber List (moderate evidence)",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2021-04-21T15:53:20.457709Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.216",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting this gene from red to amber on advice of Genomics England clinical team. Amber rating selected pending further cases and delineation of the phenotype",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2021-04-21T15:53:20.437936Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.216",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: eef2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2021-04-06T16:38:18.229699Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.215",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: ATCAY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-06T14:51:51.420692Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.215",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: ATCAY were set to 29449188; 14556008; 23226316",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-06T13:50:52.190032Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.214",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: ATCAY were set to ",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-06T13:47:55.406977Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.213",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: ATCAY were changed from Ataxia, cerebellar, Cayman type ; Cerebellar Ataxia, Cayman type to Ataxia, cerebellar, Cayman type OMIM:601238; Cayman type cerebellar ataxia MONDO:0011025",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-03-04T19:13:32.194004Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.212",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: EEF2: Waiting on opinion of Genomics England clinical team as to rating and additional panels for this gene.",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2021-03-04T18:53:24.453526Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.212",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: EEF2 was added\ngene: EEF2 was added to Hereditary ataxia. Sources: Literature\nMode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: EEF2 were set to 23001565; 33355653\nPhenotypes for gene: EEF2 were set to Spinocerebellar ataxia 26 OMIM:609306\nReview for gene: EEF2 was set to AMBER\nAdded comment: Provisionally associated with ?Spinocerebellar ataxia 26 #609306 (AD) in OMIM based on Hekman et al 2012 case. \r\n\r\nPMID: 23001565 - Hekman et al 2012 - report a six-generation kindred of Norwegian ancestry with a late-onset pure cerebellar ataxia in which a heterozygous P596H substitution in eEF2 was found to segregate with the disease phenotype in 24 individuals and two currently asymptomatic individuals. Functional studies in yeast showed that the variant (P580H in the EFT2 gene in yeast) affected translational fidelity. \r\n\r\nPMID: 33355653 - Nabais Sá et al 2021 - identified de novo EEF2 missense variants in 3 unrelated children (3, 6 and 9 years of age) with a mild phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly. \nSources: Literature",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2021-03-01T10:10:46.167926Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.211",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to STR: FMR1_CGG.",
"entity_name": "FMR1_CGG",
"entity_type": "str"
},
{
"created": "2021-02-18T12:16:09.666829Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.211",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia 10 (#615803) to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349",
"entity_name": "CLP1",
"entity_type": "gene"
},
{
"created": "2021-02-18T12:15:43.667833Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.210",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CLP1 were set to ",
"entity_name": "CLP1",
"entity_type": "gene"
},
{
"created": "2021-02-18T12:15:08.831925Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.209",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: CLP1 as Green List (high evidence)",
"entity_name": "CLP1",
"entity_type": "gene"
},
{
"created": "2021-02-18T12:15:08.826754Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.209",
"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. A single variant was reported in Turkish families who shared an 11.5 Mb haplotype in the CLP1 region, this did not suggest a recent ancestory amongst seemingly unrelated families (PMID 24766809). Supportive functional studies and a mouse model were also reported.",
"entity_name": "CLP1",
"entity_type": "gene"
},
{
"created": "2021-02-18T12:15:08.790887Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.209",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: clp1 has been classified as Green List (High Evidence).",
"entity_name": "CLP1",
"entity_type": "gene"
},
{
"created": "2021-02-16T17:31:35.581569Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.208",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag founder-effect tag was added to gene: CLP1.",
"entity_name": "CLP1",
"entity_type": "gene"
},
{
"created": "2021-02-08T15:12:40.278122Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.208",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SYNE1 were changed from Cerebellar Ataxia ; Spinocerebellar ataxia, autosomal recessive 8 to Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743; Autosomal recessive ataxia, Beauce type, MONDO:0012549",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-12-18T16:07:42.706364Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.207",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AARS were changed from to Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287; Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2020-12-18T15:35:04.848362Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.206",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AAAS were changed from Achalasia-addisonianism-alacrimia syndrome, 231550 to Achalasia-addisonianism-alacrimia syndrome, OMIM:231550; Triple-A syndrome, MONDO:0009279",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-09-01T16:32:03.833211Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.205",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: DNMT1: Rating: ; Mode of pathogenicity: None; Publications: 31984424; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DNMT1",
"entity_type": "gene"
},
{
"created": "2020-07-08T12:50:11.514319Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.205",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: ATXN8.",
"entity_name": "ATXN8",
"entity_type": "gene"
},
{
"created": "2020-07-08T12:49:56.897119Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.205",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: ATXN8",
"entity_name": "ATXN8",
"entity_type": "gene"
},
{
"created": "2020-01-10T17:27:02.751437Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.205",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: CACNA2D2 as Green List (high evidence)",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2020-01-10T17:27:02.734919Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.205",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: cacna2d2 has been classified as Green List (High Evidence).",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2020-01-10T17:26:36.836694Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.204",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: CACNA2D2 as No list",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2020-01-10T17:26:36.831456Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.204",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added to panel by Genomics England clinical team recommendation and upgraded Grey to Green. There is enough evidence to support a Green rating on this panel, confirming biallelic CACNA2D2 variants and pertinent to the corresponding phenotype of Cerebellar anomalies/ataxia/epilepsy/ID.",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2020-01-10T17:26:36.792706Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.204",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: cacna2d2 has been removed from the panel.",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2020-01-10T17:09:10.561819Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.203",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CACNA2D2 were set to PMID: 30410802, PMID: 31402629, PMID: 24358150, PMID: 23339110, PMID: 29997391; PMID : 14660671; PMID: 15331424",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2019-11-21T17:17:08.419108Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.202",
"user_name": "Zerin Hyder",
"item_type": "entity",
"text": "gene: CACNA2D2 was added\ngene: CACNA2D2 was added to Hereditary ataxia. Sources: Other\nMode of inheritance for gene: CACNA2D2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CACNA2D2 were set to PMID: 30410802, PMID: 31402629, PMID: 24358150, PMID: 23339110, PMID: 29997391; PMID : 14660671; PMID: 15331424\nPhenotypes for gene: CACNA2D2 were set to epilepsy; ataxia; developmental delay; cerebellar atrophy\nPenetrance for gene: CACNA2D2 were set to unknown\nReview for gene: CACNA2D2 was set to GREEN\nAdded comment: CACNA2D2 biallelic variants are associated with cerebellar atrophy with seizures and variable developmental delay (6 publications of affected families in the literature). Most patients also have onset of severe refractory seizures in the first year of life and show global developmental delay, compatible with epileptic encephalopathy (summary by Edvardson et al., 2013). However, at least 1 patient with normal cognitive development and only 1 febrile seizure has been reported (Valence et al., 2019), suggesting significant clinical variability of this disorder (OMIM 618501). \r\n\r\nMouse models including The 'ducky' mouse model (due to biallelic Cacna2d2 mutations) presented with absence epilepsy, spike-wave seizures and ataxia. Dysgenesis of the cerebellum is among the neuropathological findings (Brodbeck et al. (2002)). Mutations of the same gene in two other mouse models shows an association with ataxic gait, seizure susceptibility and cerebellar anomalies/degeneration. \r\n\r\nMultiple submissions to ClinVar of biallelic variants rated as pathogenic for epileptic encephalopathy. Suggest update to green on panel. \nSources: Other",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2019-09-06T11:53:58.329838Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.202",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: AARS.",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2019-09-06T11:53:52.092164Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.202",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AARS",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2019-03-04T10:15:26.062400Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.200",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: VPS13D were set to ",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2019-01-09T17:48:26.341878Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.199",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Episodic kinesigenic dyskinesia 1, 128200; Seizures, benign familial infantile, 2, 605751",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2019-01-09T17:40:59.193494Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.198",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A1 were changed from to Dystonia 9, 601042; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2019-01-09T15:41:34.842343Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.197",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, 231550",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2019-01-09T15:35:39.617473Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.196",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: AP1S2 were changed from to Mental retardation, X-linked syndromic 5, 304340",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2019-01-09T15:33:31.302801Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.195",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, 61679",
"entity_name": "CACNA1G",
"entity_type": "gene"
},
{
"created": "2019-01-09T15:26:57.573237Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.194",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia, nonprogressive, with mentalretardation, 614756 to Cerebellarataxia, nonprogressive, with mental retardation, 614756",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2019-01-09T15:25:50.118135Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.193",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 to Cerebellarataxia, nonprogressive, with mentalretardation, 614756",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2019-01-09T15:13:19.841234Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.192",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CASK were changed from to FG syndrome 4, 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2019-01-09T15:09:09.136471Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.191",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CHMP1A were changed from Pontocerebellar hypoplasia 8 (#614961) to Pontocerebellar hypoplasia, type 8, 614961",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2019-01-09T15:06:32.561464Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.190",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CLN6 were changed from Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300) to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2019-01-09T14:37:54.862688Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.189",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, 220110",
"entity_name": "COX20",
"entity_type": "gene"
},
{
"created": "2019-01-09T14:28:37.604624Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.188",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CP were changed from Cerebellar ataxia, to Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290",
"entity_name": "CP",
"entity_type": "gene"
},
{
"created": "2019-01-09T14:24:51.880717Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.187",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CWF19L1 were changed from to Spinocerebellar ataxia, autosomal recessive 17, 616127",
"entity_name": "CWF19L1",
"entity_type": "gene"
},
{
"created": "2019-01-09T14:21:33.642836Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.186",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-01-09T14:21:25.351360Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.185",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis, 213700",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-01-09T14:20:20.850241Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.184",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CYP27A1 were set to ",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-01-09T14:15:33.148562Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.183",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2019-01-09T14:13:39.991483Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.182",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, 614678",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2019-01-09T14:10:46.934037Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.181",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, 613068",
"entity_name": "FOLR1",
"entity_type": "gene"
},
{
"created": "2019-01-09T13:47:55.883140Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.180",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, 614409",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-01-09T13:47:31.662205Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.179",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: GBA2 were set to ",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-01-09T13:36:17.008163Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.178",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: GRID2 were changed from Autosomal recessive spinocerebellar ataxia 18 (#616204); Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015. to Spinocerebellar ataxia, autosomal recessive 18, 616204",
"entity_name": "GRID2",
"entity_type": "gene"
},
{
"created": "2019-01-09T13:36:02.839628Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.177",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: GRID2 were set to PMID: 25841024 ",
"entity_name": "GRID2",
"entity_type": "gene"
},
{
"created": "2019-01-09T13:32:39.837526Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.176",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2019-01-09T13:23:28.874563Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.175",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, 268800",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2019-01-09T13:19:27.165782Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.174",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: MMACHC were changed from Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400) to Ataxia and hypogonadism; Methylmalonic aciduria and homocystinuria, cblC type, 277400",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2019-01-09T13:18:42.560674Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.173",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: MMACHC were set to PMID: 26283149",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2019-01-09T13:08:41.745458Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.172",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2019-01-09T13:02:32.007981Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.171",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2019-01-09T12:22:16.826639Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.170",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, 300243",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2019-01-09T12:18:26.523358Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.169",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2019-01-09T12:09:40.973617Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.168",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: TGM6 were changed from Spinocerebellar ataxia 35 to Spinocerebellar ataxia 35, 613908",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2019-01-09T12:03:28.949273Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.167",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: corrected MIM",
"entity_name": "TMEM240",
"entity_type": "gene"
},
{
"created": "2019-01-09T12:03:28.922814Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.167",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM240 were changed from Spinocerebellar ataxia 21 (#616101) to Spinocerebellar ataxia 21, 607454",
"entity_name": "TMEM240",
"entity_type": "gene"
},
{
"created": "2019-01-09T12:00:34.767093Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.166",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: TPP1 were changed from Autosomal recessive spinocerebellar ataxia 7 (#607998); Neuronal ceroid lipfuscinosis 7 (204500) to Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2019-01-09T11:57:28.427386Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.165",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: TSEN2 were changed from Pontocerebellar hypoplasia 2B (612389) to Pontocerebellar hypoplasia 2B, 612389",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2019-01-09T11:54:11.269314Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) to Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2019-01-09T11:46:11.061366Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.163",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2B2 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Leukoencephalopathy with vanishing white matter, 603896",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2019-01-09T11:43:28.947562Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.162",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: TTC19 were changed from Nuclear type mitochondrial complex III deficiency (#615157) to Mitochondrial complex III deficiency, nuclear type 2, 615157",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2019-01-09T11:40:43.065696Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.161",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB4A were changed from Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101 to Leukodystrophy, hypomyelinating, 6, 612438; Dystonia 4, torsion, autosomal dominant, 128101",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-01-09T11:38:55.266683Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.160",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: TUBB4A were set to PMID: 25497598",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-01-09T11:38:43.904291Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.159",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Implicated autosomal dominant variants in two families with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Torsion dystonia 4 (128101) - some individuals with ataxia",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-01-09T11:38:43.882578Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.159",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB4A were changed from Implicated autosomal dominant variants in two families with ataxia; Torsion dystonia 4 (128101) - some individuals with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported. to Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-01-09T11:34:51.718818Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.158",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: TWNK were changed from Ataxia Neuropathy Spectrum Disorders (Dominant); Spinocerebellar Ataxia, Recessive to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2019-01-09T11:28:28.306074Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.157",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2019-01-09T11:23:16.942786Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.156",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2019-01-09T11:21:02.387135Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.155",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: VPS13D were changed from spastic ataxia to Spinocerebellar ataxia, autosomal recessive 4, 607317",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2019-01-09T10:57:26.916611Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.154",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: WDR73 were changed from Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature; Galloway-Mowat syndrome 1, 251300",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2019-01-09T10:54:23.904109Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.153",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: WDR81 were changed from Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2019-01-09T10:42:53.052881Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.152",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2019-01-09T10:37:46.539442Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.151",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: WWOX were changed from Autosomal recessive spinocerebellar ataxia 12 (#614322) to Autosomal recessive spinocerebellar ataxia 12, 614322",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2018-12-20T17:18:07.662068Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.150",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "GRCh38 position for CSTB_CCCCGCCCCGCG was changed from 43776447-43776470 to 43776429-43776470.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CSTB_CCCCGCCCCGCG",
"entity_type": "str"
},
{
"created": "2018-12-20T16:58:01.189168Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.149",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "GRCh38 position for ATN1_CAG was changed from 6936717-6936773 to 6936717-6936772.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ATN1_CAG",
"entity_type": "str"
},
{
"created": "2018-12-07T14:23:00.812702Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.148",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 603516 to Spinocerebellar ataxia 10 603516",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2018-12-07T14:09:54.777797Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.147",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia , 603516 to Spinocerebellar ataxia 603516",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2018-12-07T11:40:23.370700Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.146",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Phenotypes for STR: HTT_CAG were changed from to Huntington disease 143100",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2018-12-07T11:39:08.457863Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.145",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Marked STR: HTT_CAG as ready",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2018-12-07T11:39:08.453027Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.145",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: htt_cag has been classified as Green List (High Evidence).",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2018-12-07T11:36:53.021719Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.145",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Phenotypes for STR: CSTB_CCCCGCCCCGCG were changed from to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800",
"entity_name": "CSTB_CCCCGCCCCGCG",
"entity_type": "str"
},
{
"created": "2018-12-06T10:25:08.448387Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.144",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified STR: FMR1_CGG as No list",
"entity_name": "FMR1_CGG",
"entity_type": "str"
},
{
"created": "2018-12-06T10:25:08.445757Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.144",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.",
"entity_name": "FMR1_CGG",
"entity_type": "str"
},
{
"created": "2018-12-06T10:25:08.421635Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.144",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Str: fmr1_cgg has been removed from the panel.",
"entity_name": "FMR1_CGG",
"entity_type": "str"
},
{
"created": "2018-12-05T19:21:17.546192Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.143",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag STR tag was added to STR: HTT_CAG.",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T18:33:19.987409Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.143",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag STR tag was added to STR: CSTB_CCCCGCCCCGCG.",
"entity_name": "CSTB_CCCCGCCCCGCG",
"entity_type": "str"
},
{
"created": "2018-12-05T13:39:22.431915Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.143",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Classified STR: NOP56_GGCCTG as Green List (high evidence)",
"entity_name": "NOP56_GGCCTG",
"entity_type": "str"
},
{
"created": "2018-12-05T13:39:22.424129Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.143",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: nop56_ggcctg has been classified as Green List (High Evidence).",
"entity_name": "NOP56_GGCCTG",
"entity_type": "str"
},
{
"created": "2018-12-05T13:39:11.758153Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.142",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Normal Number of Repeats for NOP56_GGCCTG was changed from 14 to 15.",
"entity_name": "NOP56_GGCCTG",
"entity_type": "str"
},
{
"created": "2018-12-05T13:38:42.129582Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.141",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Marked STR: NOP56_GGCCTG as ready",
"entity_name": "NOP56_GGCCTG",
"entity_type": "str"
},
{
"created": "2018-12-05T13:38:42.126484Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.141",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results",
"entity_name": "NOP56_GGCCTG",
"entity_type": "str"
},
{
"created": "2018-12-05T13:38:42.090306Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.141",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: nop56_ggcctg has been classified as Red List (Low Evidence).",
"entity_name": "NOP56_GGCCTG",
"entity_type": "str"
},
{
"created": "2018-12-05T13:17:38.490806Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.141",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Marked STR: TBP_CAG as ready",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T13:17:38.487256Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.141",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T13:17:38.460821Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.141",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: tbp_cag has been classified as Green List (High Evidence).",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T13:17:22.996612Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.141",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Classified STR: TBP_CAG as Green List (high evidence)",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T13:17:22.990598Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.141",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: tbp_cag has been classified as Green List (High Evidence).",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T13:17:02.935396Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.140",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Normal Number of Repeats for TBP_CAG was changed from 40 to 41.",
"entity_name": "TBP_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T13:03:40.488282Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.139",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Marked STR: ATXN10_ATTCT as ready",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2018-12-05T13:03:40.485155Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.139",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2018-12-05T13:03:40.463491Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.139",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: atxn10_attct has been classified as Green List (High Evidence).",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2018-12-05T13:03:34.995727Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.139",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Classified STR: ATXN10_ATTCT as Green List (high evidence)",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2018-12-05T13:03:34.987994Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.139",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: atxn10_attct has been classified as Green List (High Evidence).",
"entity_name": "ATXN10_ATTCT",
"entity_type": "str"
},
{
"created": "2018-12-05T13:02:34.009205Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.138",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Classified STR: ATXN7_CAG as Green List (high evidence)",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T13:02:34.003791Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.138",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: atxn7_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T12:59:40.864850Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.137",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Marked STR: ATXN7_CAG as ready",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T12:59:40.861259Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.137",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T12:59:40.807082Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.137",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: atxn7_cag has been classified as Red List (Low Evidence).",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T12:27:04.261487Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.137",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Marked STR: ATXN3_CAG as ready",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T12:27:04.259458Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.137",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T12:27:04.241823Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.137",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: atxn3_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T12:26:51.666880Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.137",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Classified STR: ATXN3_CAG as Green List (high evidence)",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T12:26:51.658752Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.137",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: atxn3_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN3_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T10:54:37.176378Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.136",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Marked STR: ATXN2_CAG as ready",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T10:54:37.173160Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.136",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T10:54:37.145215Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.136",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: atxn2_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T10:54:29.755900Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.136",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Classified STR: ATXN2_CAG as Green List (high evidence)",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T10:54:29.748979Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.136",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: atxn2_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN2_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T10:53:47.792721Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.135",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ATXN2",
"entity_type": "gene"
},
{
"created": "2018-12-05T10:53:21.762037Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.135",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed gene: ATXN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATXN2",
"entity_type": "gene"
},
{
"created": "2018-12-05T10:42:24.657689Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.135",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Marked STR: ATXN1_CAG as ready",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T10:42:24.654068Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.135",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T10:42:24.626344Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.135",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: atxn1_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T10:42:15.209012Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.135",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Classified STR: ATXN1_CAG as Green List (high evidence)",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T10:42:15.202900Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.135",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: atxn1_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T10:42:02.096397Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.134",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Pathogenic Number of Repeats for ATXN1_CAG was changed from 39 to 44.",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T10:32:04.380016Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.133",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Marked STR: CSTB_CCCCGCCCCGCG as ready",
"entity_name": "CSTB_CCCCGCCCCGCG",
"entity_type": "str"
},
{
"created": "2018-12-05T10:32:04.376822Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.133",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results",
"entity_name": "CSTB_CCCCGCCCCGCG",
"entity_type": "str"
},
{
"created": "2018-12-05T10:32:04.358348Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.133",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).",
"entity_name": "CSTB_CCCCGCCCCGCG",
"entity_type": "str"
},
{
"created": "2018-12-05T10:31:53.845725Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.133",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)",
"entity_name": "CSTB_CCCCGCCCCGCG",
"entity_type": "str"
},
{
"created": "2018-12-05T10:31:53.839998Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.133",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).",
"entity_name": "CSTB_CCCCGCCCCGCG",
"entity_type": "str"
},
{
"created": "2018-12-05T10:31:42.902937Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.132",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "STR: CSTB_CCCCGCCCCGCG was added\nSTR: CSTB_CCCCGCCCCGCG was added to Hereditary ataxia. Sources: Expert Review\nMode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal\nAdded comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results \nSources: Expert Review",
"entity_name": "CSTB_CCCCGCCCCGCG",
"entity_type": "str"
},
{
"created": "2018-12-04T14:43:51.826244Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.131",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Marked STR: HTT_CAG as ready",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2018-12-04T14:43:51.822761Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.131",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Added to the panel following the Webex discussion with HD experts (6/09/2018) about feeding back HTT results",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2018-12-04T14:43:51.776150Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.131",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: htt_cag has been classified as Green List (High Evidence).",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2018-12-04T14:43:27.028790Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.131",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Classified STR: HTT_CAG as Green List (high evidence)",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2018-12-04T14:43:27.021317Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.131",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: htt_cag has been classified as Green List (High Evidence).",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2018-12-04T14:43:11.913985Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.130",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "STR: HTT_CAG was added\nSTR: HTT_CAG was added to Hereditary ataxia. Sources: Expert Review\nMode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nSTR: HTT_CAG was marked as current diagnostic",
"entity_name": "HTT_CAG",
"entity_type": "str"
},
{
"created": "2018-12-04T13:13:50.321334Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.129",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Normal Number of Repeats for FXN_GAA was changed from 42 to 44.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2018-12-04T13:13:35.988864Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.128",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Marked STR: FXN_GAA as ready",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2018-12-04T13:13:35.985724Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.128",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2018-12-04T13:13:35.967792Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.128",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: fxn_gaa has been classified as Green List (High Evidence).",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2018-12-04T13:13:14.279551Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.128",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Classified STR: FXN_GAA as Green List (high evidence)",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2018-12-04T13:13:14.271307Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.128",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: fxn_gaa has been classified as Green List (High Evidence).",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2018-12-04T13:13:11.136690Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.127",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Classified STR: FXN_GAA as Green List (high evidence)",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2018-12-04T13:13:11.130188Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.127",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: fxn_gaa has been classified as Green List (High Evidence).",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2018-12-04T13:12:56.502031Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.126",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Normal Number of Repeats for FXN_GAA was changed from 33 to 42.",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2018-12-04T13:12:14.029883Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.125",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed STR: FXN_GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2018-11-16T13:52:39.428279Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.125",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: GOSR2 were changed from Ramsay Hunt syndrome; Epilepsy, progressive myoclonic 6, 614018 to Epilepsy, progressive myoclonic 6, 614018",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2018-11-16T13:50:51.430029Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.124",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on publications: Publications added support gene-disease association and rating of this gene to Green. Variants of GOSR2 are classified as causing less common Autosomal Recessive Hereditary Ataxias (i.e. reported in 1-5 families)",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2018-11-16T13:50:51.417931Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.124",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: GOSR2 were set to ",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2018-11-16T13:45:07.766252Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.123",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Added missing phenotype",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2018-11-16T13:45:07.738915Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.123",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: GOSR2 were changed from to Ramsay Hunt syndrome; Epilepsy, progressive myoclonic 6, 614018",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2018-09-07T16:38:14.966590Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.122",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Region: ISCA-37404-Loss was added\nRegion: ISCA-37404-Loss was added to Hereditary ataxia. Sources: ClinGen,Expert Review Green\nMode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37404-Loss were set to 22045295; 7611294\nPhenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105831",
"entity_name": "ISCA-37404-Loss",
"entity_type": "region"
},
{
"created": "2018-09-07T16:38:14.854525Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.122",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Region: ISCA-37478-Gain was added\nRegion: ISCA-37478-Gain was added to Hereditary ataxia. Sources: ClinGen,Expert Review Green\nMode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37478-Gain were set to 18374305; 16840569; 9106540\nPhenotypes for Region: ISCA-37478-Gain were set to hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome; autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems",
"entity_name": "ISCA-37478-Gain",
"entity_type": "region"
},
{
"created": "2018-09-07T16:37:41.074229Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": "1.122",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Region: ISCA-37478-Loss was added\nRegion: ISCA-37478-Loss was added to Hereditary ataxia. Sources: ClinGen,Expert Review Green\nMode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37478-Loss were set to 22045295; 7611294\nPhenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830",
"entity_name": "ISCA-37478-Loss",
"entity_type": "region"
},
{
"created": "2018-08-13T16:15:07.159656Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on gene: SPTBN2",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2018-07-05T10:09:08.316499Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified VPS13D as Green List (high evidence)",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2018-07-05T10:08:54.938443Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2018-06-06T13:48:49.528185Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on STR: FMR1_CGG",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2018-06-06T13:29:33.300082Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on STR: ATXN7_CAG",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2018-06-06T12:01:27.799346Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on STR: TBP_CAG",
"entity_name": "TBP",
"entity_type": "gene"
},
{
"created": "2018-06-06T11:57:51.535603Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on STR: PPP2R2B_CAG",
"entity_name": "PPP2R2B",
"entity_type": "gene"
},
{
"created": "2018-06-05T11:00:01.633063Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified PPP2R2B as Green List (high evidence)",
"entity_name": "PPP2R2B",
"entity_type": "gene"
},
{
"created": "2018-06-05T10:58:53.486601Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified ATN1 as Green List (high evidence)",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2018-06-05T10:57:56.438809Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified CACNA1A as Green List (high evidence)",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2018-06-01T09:41:02.438290Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of STR: ATXN7_CAG",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2018-06-01T09:05:17.888755Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on STR: TBP_CAG",
"entity_name": "TBP",
"entity_type": "gene"
},
{
"created": "2018-05-31T16:05:10.421197Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: ATXN7_CAG",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2018-05-31T15:27:36.283140Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on STR: FXN_GAA",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2018-05-31T14:41:25.938860Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed STR: TBP_CAG",
"entity_name": "TBP",
"entity_type": "gene"
},
{
"created": "2018-05-31T14:40:18.562350Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added STR to panel",
"entity_name": "TBP",
"entity_type": "gene"
},
{
"created": "2018-05-31T14:33:18.324277Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on STR: PPP2R2B_CAG",
"entity_name": "PPP2R2B",
"entity_type": "gene"
},
{
"created": "2018-05-31T14:32:08.432039Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added STR to panel",
"entity_name": "PPP2R2B",
"entity_type": "gene"
},
{
"created": "2018-05-31T14:25:32.421735Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added STR to panel",
"entity_name": "NOP56",
"entity_type": "gene"
},
{
"created": "2018-05-31T14:20:51.664507Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added STR to panel",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2018-05-31T14:16:35.674896Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added STR to panel",
"entity_name": "ATXN3",
"entity_type": "gene"
},
{
"created": "2018-05-31T14:08:45.159958Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added STR to panel",
"entity_name": "ATXN2",
"entity_type": "gene"
},
{
"created": "2018-05-31T13:59:54.808489Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added STR to panel",
"entity_name": "ATXN10",
"entity_type": "gene"
},
{
"created": "2018-05-31T13:55:46.244457Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added STR to panel",
"entity_name": "ATXN1",
"entity_type": "gene"
},
{
"created": "2018-05-31T13:49:52.144450Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added STR to panel",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2018-05-31T13:44:18.645966Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added STR to panel",
"entity_name": "FXN_GAA",
"entity_type": "str"
},
{
"created": "2018-05-31T13:40:19.276843Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added STR to panel",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2018-05-31T13:35:35.548890Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added STR to panel",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2018-04-15T21:19:27.370990Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "alisdair mcneill",
"item_type": "entity",
"text": "reviewed VAMP1",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2018-04-15T21:16:20.314819Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "alisdair mcneill",
"item_type": "entity",
"text": "reviewed SPTBN2",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2018-03-15T17:22:27.769725Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of MVK",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2018-03-15T17:15:42.208189Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified MVK as Amber List (moderate evidence)",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2018-03-15T17:14:25.078990Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2018-03-15T13:38:48.754009Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified GPAA1 as Green List (high evidence)",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2018-03-15T13:38:36.939495Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2018-03-06T09:47:41.906140Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "classified COG5 as Amber List (moderate evidence)",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2018-03-06T09:46:53.551353Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2018-02-06T10:22:41.255426Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified CLCN2 as Green List (high evidence)",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2018-02-06T10:22:29.270377Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2017-12-18T13:36:01.156213Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified DNAJC19 as Green List (high evidence)",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2017-12-18T13:35:24.315546Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on DNAJC19",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2017-12-18T13:34:33.557422Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2017-12-14T16:21:33.117160Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "BEAN1",
"entity_type": "gene"
},
{
"created": "2017-12-14T15:58:46.641254Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed ATXN10",
"entity_name": "ATXN10",
"entity_type": "gene"
},
{
"created": "2017-12-14T15:26:10.333345Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified ATP6V0A2 as Green List (high evidence)",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2017-12-14T15:25:25.451030Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2017-11-06T15:09:11.510052Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of RUBCNL",
"entity_name": "RUBCNL",
"entity_type": "gene"
},
{
"created": "2017-11-01T12:45:44.097000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "classified OPA3 as green",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2017-11-01T12:45:16.681000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "added OPA3 to panel",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2017-11-01T12:45:15.242000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed OPA3",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2017-10-24T16:29:39.981000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "edited their review of VAMP1",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2017-10-24T16:29:12.209000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified VAMP1 as amber",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2017-10-24T16:29:12.208000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on VAMP1",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2017-09-05T14:02:16.830000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of DAB1",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2017-08-21T14:00:18.837000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed DAB1",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2017-08-17T10:55:18.801000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified NKX6-2 as green",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2017-08-17T10:51:29.248000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "added NKX6-2 to panel",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2017-08-17T10:51:27.811000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed NKX6-2",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2017-08-15T10:41:04.597000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified ELOVL4 as green",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2017-08-15T10:40:24.847000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "added ELOVL4 to panel",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2017-08-15T10:40:22.467000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed ELOVL4",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2017-07-25T08:35:07.946000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified DMXL2 as amber",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2017-07-25T08:34:45.657000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "added DMXL2 to panel",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2017-07-25T08:34:43.426000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed DMXL2",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2017-07-20T14:59:34.873000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on MRE11A",
"entity_name": "MRE11A",
"entity_type": "gene"
},
{
"created": "2017-07-07T09:59:37.244000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "added DAB1 to panel",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2017-07-07T09:59:36.062000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed DAB1",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2017-05-24T12:37:09.615000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "edited their review of ATXN8",
"entity_name": "ATXN8",
"entity_type": "gene"
},
{
"created": "2017-05-24T12:36:03.581000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "added ATXN8 to panel",
"entity_name": "ATXN8",
"entity_type": "gene"
},
{
"created": "2017-05-24T12:36:00.019000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed ATXN8",
"entity_name": "ATXN8",
"entity_type": "gene"
},
{
"created": "2017-03-23T16:35:20.698000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "added CSTB to panel",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2017-03-23T16:35:19.549000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed CSTB",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2017-03-21T15:29:08.585000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified MTTP as green",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2017-03-21T15:26:39.627000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "added MTTP to panel",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2017-03-21T15:26:38.346000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed MTTP",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2017-03-20T10:52:16.273000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on SAR1B",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2017-03-20T10:50:58.487000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified SAR1B as green",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2017-03-20T10:50:09.316000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "added SAR1B to panel",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2017-03-20T10:50:08.112000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed SAR1B",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2017-02-06T12:42:33.422000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "added DNAJC5 to panel",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2017-02-06T12:42:32.223000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed DNAJC5",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2017-02-06T12:21:32.261000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "added EPM2A to panel",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2017-02-06T12:21:30.757000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed EPM2A",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2017-02-06T11:49:44.031000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "added NHLRC1 to panel",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2017-02-06T11:49:42.892000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed NHLRC1",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2017-01-12T15:38:46.206000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on SLC2A1",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2017-01-03T10:07:54.829000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "added XRCC1 to panel",
"entity_name": "XRCC1",
"entity_type": "gene"
},
{
"created": "2017-01-03T10:07:53.717000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed XRCC1",
"entity_name": "XRCC1",
"entity_type": "gene"
},
{
"created": "2016-12-09T16:55:57.023000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on C10orf2",
"entity_name": "C10orf2",
"entity_type": "gene"
},
{
"created": "2016-12-09T16:34:10.642000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on KIAA0226",
"entity_name": "KIAA0226",
"entity_type": "gene"
},
{
"created": "2016-12-09T15:59:47.403000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on MRE11A",
"entity_name": "MRE11A",
"entity_type": "gene"
},
{
"created": "2016-12-09T13:38:58.372000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on ADCK3",
"entity_name": "ADCK3",
"entity_type": "gene"
},
{
"created": "2016-12-05T09:52:55.359000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on TBP",
"entity_name": "TBP",
"entity_type": "gene"
},
{
"created": "2016-12-05T09:50:58.448000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on ATXN7",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2016-12-05T09:41:57.755000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on ATXN3",
"entity_name": "ATXN3",
"entity_type": "gene"
},
{
"created": "2016-12-05T09:22:25.102000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on ATXN10",
"entity_name": "ATXN10",
"entity_type": "gene"
},
{
"created": "2016-12-01T16:21:26.954000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on NOP56",
"entity_name": "NOP56",
"entity_type": "gene"
},
{
"created": "2016-12-01T16:04:54.054000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on ATN1",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2016-11-30T17:10:02.275000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on ATN1",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2016-11-30T16:50:04.977000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of ATXN2",
"entity_name": "ATXN2",
"entity_type": "gene"
},
{
"created": "2016-08-24T12:44:36.415000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on POLG",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2016-08-24T12:41:48.524000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on OPHN1",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2016-08-23T09:36:47.680000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "marked POLR3A as ready",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2016-08-23T09:34:20.192000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified POLR3A as green",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2016-08-23T09:16:54.077000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified POLR3A as red",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2016-08-23T09:16:25.413000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "added POLR3A to panel",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2016-08-23T09:16:24.248000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed POLR3A",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2016-08-23T09:15:15.324000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "marked GJC2 as ready",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2016-08-23T09:13:40.797000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified GJC2 as green",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2016-08-23T09:13:32.477000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified GJC2 as grey",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2016-08-23T09:10:35.468000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "added GJC2 to panel",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2016-08-23T09:10:34.256000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed GJC2",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2016-08-23T09:08:57.693000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "marked PRNP as ready",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2016-08-23T09:08:01.567000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified PRNP as green",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2016-08-23T09:07:53.930000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified PRNP as red",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2016-08-23T08:52:07.792000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "added PRNP to panel",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2016-08-23T08:52:06.618000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed PRNP",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2016-08-23T08:47:28.525000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "marked GFAP as ready",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2016-08-23T08:47:16.807000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified GFAP as green",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2016-08-23T08:47:10.955000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified GFAP as red",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2016-08-23T08:40:26.053000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "added GFAP to panel",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2016-08-23T08:40:24.820000Z",
"panel_name": "Hereditary ataxia",
"panel_id": 20,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed GFAP",
"entity_name": "GFAP",
"entity_type": "gene"
}
]