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{
"count": 159895,
"next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?page=2",
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"results": [
{
"created": "2020-11-27T10:34:11.875024Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.379",
"user_name": "Boaz Palterer",
"item_type": "entity",
"text": "gene: RNU7-1 was added\ngene: RNU7-1 was added to Primary immunodeficiency. Sources: Literature\nMode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU7-1 were set to 33230297\nPhenotypes for gene: RNU7-1 were set to Type I interferonopathy, Aicardi-Goutières syndrome\nPenetrance for gene: RNU7-1 were set to unknown\nReview for gene: RNU7-1 was set to AMBER\nAdded comment: 16 patients belonging to 11 independent pedigrees harbored biallelic variants, with a frequency of ≤0.005 alleles in the Genome Aggregation Database (gnomAD), in the RNU7-1 gene encoding small nuclear RNA (snRNA) U7 \nSources: Literature",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2020-11-27T10:31:40.698512Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.379",
"user_name": "Boaz Palterer",
"item_type": "entity",
"text": "gene: LSM11 was added\ngene: LSM11 was added to Primary immunodeficiency. Sources: Literature\nMode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSM11 were set to 33230297\nPhenotypes for gene: LSM11 were set to Type I interferonopathy, Aicardi-Goutières syndrome\nPenetrance for gene: LSM11 were set to unknown\nReview for gene: LSM11 was set to AMBER\nAdded comment: Two siblings with AGS from consanguineous parents were found to have homozygous LSM11 mutation. \nSources: Literature",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2020-11-27T10:19:52.633218Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.379",
"user_name": "Boaz Palterer",
"item_type": "entity",
"text": "gene: LCP2 was added\ngene: LCP2 was added to Primary immunodeficiency. Sources: Literature\nMode of inheritance for gene: LCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LCP2 were set to 33231617\nPhenotypes for gene: LCP2 were set to SCID; combined T and B cell immunodeficiency; severe neutrophil defects; impaired platelet aggregation\nPenetrance for gene: LCP2 were set to unknown\nReview for gene: LCP2 was set to AMBER\nAdded comment: One patient with severe combined immunodeficiency was found to have biallelic mutations in SLP76. \nSources: Literature",
"entity_name": "LCP2",
"entity_type": "gene"
},
{
"created": "2020-11-26T15:04:53.309788Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.129",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: PMP22 as Amber List (moderate evidence)",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-11-26T15:04:53.305848Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.129",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting this gene from red to amber. Three independent cases reported in which patients have Charcot-Marie-Tooth disease plus hearing loss and variants in PMP22, but waiting for feedback from Genomics England clinical team as to whether this gene is appropriate to be green as HL is part of a syndrome of features.",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-11-26T15:04:53.283864Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.129",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: pmp22 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-11-26T15:02:56.928723Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.128",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: PMP22 were changed from to Charcot-Marie-Tooth disease, type 1E OMIM:118300; Charcot-Marie-Tooth disease type 1E MONDO:0007311",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-11-26T15:01:46.590885Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.127",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: PMP22 were set to ",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-11-26T14:53:38.373872Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.126",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMP22 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-11-26T14:52:53.387477Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.125",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Associated with Charcot-Marie-Tooth disease, type 1E #118300\t(AD) in which hearing loss is listed as a clinical feature\r\n\r\nPMID: 12578939 - Sambuughin et al 2003 - report deafness associated with a demyelinating neuropathy in three individuals of a family in whom a novel 12bp deletion resulting in the deletion of four-amino acid deletion (115-118) in the PMP22 gene was identified (targeted sequencing of PMP22). No asymptomatic family members had the deletion nor was it detected in 55 healthy controls. \r\n\r\nPMID: 11835375 - Boerkoel et al 2002 - screened PMP22, GJB1, and MPZ contained 159 unrelated patients with primary peripheral demyelinating neuropathy or a primary peripheral axonal neuropathy and report 5 which have heterozygous variants in PMP22, 1 of which had a clinical diagnosis of CMT1 + deafness (variant 82T>C W28R). An affected sibling had the same variant. \r\n\r\nPMID: 10330345 - Kovach et al 1999 - analysis of a 7 generation family from central Illinois with autosomal dominant CMT and deafness. In the 31 affected family members, hearing loss ranged from borderline normal to profound hearing loss, with all having at least mild bilateral hearing loss by adulthood. Following haplotype analysis they sequenced PMP22 and a point mutation was found in affected individuals G->C at position 248 in exon 4 in the heterozygous state (p.Ala67Pro). \r\n\r\nPMID: 8355122 - Hamiel et al 1993 - Abstract only accessed. Describe a family with hereditary motor-sensory neuropathy with sensorineural deafness is described; the neurologic features and deafness were apparent in early childhood and infancy. \r\n\r\nSummary: 3 cases in which hearing loss is reported in CMT patients with PMP22 variants. In all cases a limited number of genes were sequenced.; to: Associated with Charcot-Marie-Tooth disease, type 1E #118300\t(AD) in which hearing loss is listed as a clinical feature\r\n\r\nPMID: 12578939 - Sambuughin et al 2003 - report deafness associated with a demyelinating neuropathy in three individuals of a family in whom a novel 12bp deletion resulting in the deletion of four-amino acid deletion (115-118) in the PMP22 gene was identified (targeted sequencing of PMP22). No asymptomatic family members had the deletion nor was it detected in 55 healthy controls. \r\n\r\nPMID: 11835375 - Boerkoel et al 2002 - screened PMP22, GJB1, and MPZ in 159 unrelated patients with primary peripheral demyelinating neuropathy or a primary peripheral axonal neuropathy and report 5 which have heterozygous variants in PMP22, 1 of which had a clinical diagnosis of CMT1 + deafness (variant 82T>C W28R). An affected sibling had the same variant. \r\n\r\nPMID: 10330345 - Kovach et al 1999 - analysis of a 7 generation family from central Illinois with autosomal dominant CMT and deafness. In the 31 affected family members, hearing loss ranged from borderline normal to profound hearing loss, with all having at least mild bilateral hearing loss by adulthood. Following haplotype analysis they sequenced PMP22 and a point mutation was found in affected individuals G->C at position 248 in exon 4 in the heterozygous state (p.Ala67Pro). \r\n\r\nPMID: 8355122 - Hamiel et al 1993 - Abstract only accessed. Describe a family with hereditary motor-sensory neuropathy with sensorineural deafness is described; the neurologic features and deafness were apparent in early childhood and infancy. \r\n\r\nSummary: 3 cases in which hearing loss is reported in CMT patients with PMP22 variants. In all cases a limited number of genes were sequenced.",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-11-26T14:47:33.295133Z",
"panel_name": "Familial Meniere Disease",
"panel_id": 394,
"panel_version": "1.1",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: COCH: Several cases of biallelic variants reported in families with hearing loss (see https://panelapp.genomicsengland.co.uk/panels/126/gene/COCH/) but none report Meniere disease combination of phenotype so leaving the mode of inheritance as monoallelic on the Familial Meniere Disease panel.",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-11-26T14:45:11.137458Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.125",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Leaving mode of inheritance as Monoallelic only for now, but with recommendation that it should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next GMS review.",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-11-26T14:45:11.121512Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.125",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of inheritance for gene: COCH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-11-26T14:43:58.444923Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.124",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "edited their review of gene: COCH: Changed publications: 29449721, 31126177, 32562050, 32939038",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-11-26T14:43:17.640757Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.124",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "edited their review of gene: COCH: Changed publications: 31126177",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-11-26T14:42:57.876444Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.124",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: COCH were set to PMID: 10400989; 11332404; 11709536; 12928864; 14512963; 16078052; 16261627; 16481359; 18312449; 19161137; 20097680; 22139968; 23684986; 7829101; 8817345; 9441737; 9806553; 9931344",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-11-26T14:40:34.884830Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.123",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: COCH were changed from hearing loss; #601369:Deafness, autosomal dominant 9; Nonsyndromic Hearing Loss, Dominant to Deafness, autosomal recessive 110 OMIM:618094; Deafness, autosomal dominant 9 OMIM:601369; deafness, autosomal recessive 110 MONDO:0054860; autosomal dominant nonsyndromic deafness 9 MONDO:0011058",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-11-26T14:40:02.592448Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.122",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: COCH.",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-11-26T14:39:19.345411Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.122",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: COCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 29449721, 29449721, 31126177, 32562050; Phenotypes: Deafness, autosomal recessive 110 OMIM:618094, Deafness, autosomal dominant 9 OMIM:601369, deafness, autosomal recessive 110 MONDO:0054860, autosomal dominant nonsyndromic deafness 9 MONDO:0011058; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:08:56.774339Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.122",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: THOC1 were changed from Nonsyndromic hearing loss to Nonsyndromic hearing loss; nonsyndromic genetic deafness MONDO:0019497",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:07:37.967918Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.121",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: THOC1 as Amber List (moderate evidence)",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:07:37.964319Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.121",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Following review from Zornitza Stark changing the rating of THOC1 from grey to amber as there is one large family plus functional data to support the proposal that a variant in THOC1 is associated with hearing loss.",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:07:37.935902Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.121",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: thoc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2020-11-25T16:54:30.810155Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.120",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: LMX1A.\nTag for-review tag was added to gene: LMX1A.",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-11-25T16:54:08.431550Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.120",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: LMX1A as Amber List (moderate evidence)",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-11-25T16:54:08.425333Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.120",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Changing rating from red to amber but with a recommendation for a green rating following GMS review.",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-11-25T16:54:08.355559Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.120",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: lmx1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-11-25T16:52:46.035817Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.119",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Setting MOI to Monoallelic as only one case of biallelic reported to date, and patients with biallelic variants would still be picked up by the Genomics England pipeline.",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-11-25T16:52:46.009399Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.119",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMX1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-11-25T16:51:45.388464Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.118",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: LMX1A were changed from to Deafness, autosomal dominant 7 OMIM:601412; autosomal dominant nonsyndromic deafness 7 MONDO:0011074",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-11-25T16:51:27.594743Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.117",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: LMX1A were set to ",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-11-25T16:50:47.114430Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.116",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "edited their review of gene: LMX1A: Changed rating: GREEN; Changed publications: 29754270, 29971487, 32840933, 19540218, 18985389; Changed phenotypes: Deafness, autosomal dominant 7 OMIM:601412, autosomal dominant nonsyndromic deafness 7 MONDO:0011074; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-11-25T16:36:16.470582Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.116",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: LMX1A",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:39:16.797191Z",
"panel_name": "Inherited ovarian cancer (without breast cancer)",
"panel_id": 143,
"panel_version": "2.5",
"user_name": "marc tischkowitz",
"item_type": "entity",
"text": "commented on gene: PALB2: From the key paper (Yang 2020):\r\nTable 3 - 16% risk to age 80 ( 95% CI 8-28%) if 2 first degree relatives affected at age 50, 11% risk to age 80 (95% CI 6-21) if mother and maternal grandmother diagnosed at age 50. \r\n\r\nTherefore clinically actionable if there is a strong family history.\r\n\r\nThis paper and that of Song 2020 supersede previous published studies which are based on many fewer cases.",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2020-11-24T19:59:08.561937Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.116",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Changing the rating from red to amber for NARS2. Only one family with non-syndromic deafness, but several with deafness in conjunction with other clinical features.; to: Comment on list classification: Changing the rating from red to amber for NARS2. Only one family with non-syndromic deafness, but several with deafness in conjunction with other clinical features. This gene should be reviewed at the next major GMS update to decide whether it would be appropriate for the panel as a green gene.",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2020-11-24T19:58:22.856080Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.116",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: NARS2.",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2020-11-24T19:58:07.022387Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.116",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: NARS2 as Amber List (moderate evidence)",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2020-11-24T19:58:07.015923Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.116",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Changing the rating from red to amber for NARS2. Only one family with non-syndromic deafness, but several with deafness in conjunction with other clinical features.",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2020-11-24T19:58:06.938739Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.116",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: nars2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2020-11-24T19:56:19.400801Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.115",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: NARS2: PMID: 25807530 - Simon et al 2015 - report 2 unrelated families with 3 different variants in NARS2. One family is segregating nonsyndromic hearing loss (DFNB94) and another with Leigh syndrome. In the family with Leigh syndrome two affected children failed the newborn hearing test.\r\n\r\nPMID: 28077841 - Mizuguchi et al 2017 - report 4 individuals from 3 families with homozygous or compound het variants in NARS2 found by WES. All had hearing impairment (detected <2 years of age) among other clinical features including seizures and hypotonia.\r\n\r\nPMID: 30327238 - Seaver et al 2018 - report two infant brothers who presented with focal status epilepticus that progressed to lethal epileptic encephalopathy. Compound het missense variants found by WES in NARS2. The younger brother failed the newborn hearing screen. \r\n\r\nPMID: 25385316 - Vanlander et al 2015 - report 2 siblings born to consanguineous parents in which a homozygous missense mutation (c.822G>C) was found in NARS2). One sibling had mild intellectual disability and epilepsy in childhood, whereas the other had severe myopathy. Hearing loss NOT reported.",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2020-11-24T18:15:48.466729Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.115",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: NARS2 were changed from to Deafness, autosomal recessive 94 OMIM:618434; Combined oxidative phosphorylation deficiency 24 OMIM:616239; deafness, autosomal recessive 94 MONDO:0032749; combined oxidative phosphorylation defect type 24 MONDO:0014547",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2020-11-24T18:13:30.566681Z",
"panel_name": "Hearing loss",
"panel_id": 126,
"panel_version": "2.114",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: NARS2 were set to 25807530",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:10:03.184464Z",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 229,
"panel_version": "1.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNBP was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:09:52.951945Z",
"panel_name": "Paroxysmal central nervous system disorders",
"panel_id": 541,
"panel_version": "1.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNBP was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:08:55.076537Z",
"panel_name": "Paroxysmal central nervous system disorders",
"panel_id": 541,
"panel_version": "1.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag nucleotide-repeat-expansion tag was added to gene: CNBP.\nTag currently-ngs-unreportable tag was added to gene: CNBP.",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:08:31.392374Z",
"panel_name": "Skeletal muscle channelopathy",
"panel_id": 542,
"panel_version": "1.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag nucleotide-repeat-expansion tag was added to gene: CNBP.\nTag currently-ngs-unreportable tag was added to gene: CNBP.",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:08:01.353976Z",
"panel_name": "Severe Paediatric Disorders",
"panel_id": 921,
"panel_version": "1.20",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag nucleotide-repeat-expansion tag was added to gene: CNBP.\nTag currently-ngs-unreportable tag was added to gene: CNBP.",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:07:35.819060Z",
"panel_name": "Skeletal muscle channelopathy",
"panel_id": 542,
"panel_version": "1.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag STR tag was added to STR: CNBP_CCTG.",
"entity_name": "CNBP_CCTG",
"entity_type": "str"
},
{
"created": "2020-11-24T17:06:00.411812Z",
"panel_name": "Skeletal muscle channelopathy",
"panel_id": 542,
"panel_version": "1.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: CNBP_CCTG were changed from Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266",
"entity_name": "CNBP_CCTG",
"entity_type": "str"
},
{
"created": "2020-11-24T17:06:00.318815Z",
"panel_name": "Skeletal muscle channelopathy",
"panel_id": 542,
"panel_version": "1.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: CNBP_CCTG were changed from Myotonic dystrophy 2, 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266",
"entity_name": "CNBP_CCTG",
"entity_type": "str"
},
{
"created": "2020-11-24T17:05:59.120820Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: CNBP_CCTG were changed from Myotonic dystrophy 2 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266",
"entity_name": "CNBP_CCTG",
"entity_type": "str"
},
{
"created": "2020-11-24T17:05:42.041776Z",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 229,
"panel_version": "1.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: CNBP_CCTG were changed from Myotonic dystrophy 2 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266",
"entity_name": "CNBP_CCTG",
"entity_type": "str"
},
{
"created": "2020-11-24T17:05:33.119848Z",
"panel_name": "Severe Paediatric Disorders",
"panel_id": 921,
"panel_version": "1.20",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CNBP were changed from Myotonic dystrophy 2, 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:05:19.371330Z",
"panel_name": "Skeletal muscle channelopathy",
"panel_id": 542,
"panel_version": "1.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CNBP were changed from Myotonic dystrophy 2, 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:05:04.065707Z",
"panel_name": "Paroxysmal central nervous system disorders",
"panel_id": 541,
"panel_version": "1.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CNBP were changed from Myotonia; MYOTONIC DYSTROPHY 2 (DM2) to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:04:50.595626Z",
"panel_name": "COVID-19 research",
"panel_id": 111,
"panel_version": "1.70",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CNBP were changed from Steinert- myotonica dystrophia to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:04:41.751731Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CNBP were changed from Myotonic dystrophy 2, 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:04:12.813907Z",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 229,
"panel_version": "1.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CNBP were changed from Myotonia; MYOTONIC DYSTROPHY 2 (DM2) to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:03:41.340750Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.379",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CNBP were changed from Steinert- myotonica dystrophia to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:01:49.200422Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.378",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag nucleotide-repeat-expansion tag was added to gene: CNBP.\nTag currently-ngs-unreportable tag was added to gene: CNBP.",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:01:29.528394Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.378",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: CNBP as Red List (low evidence)",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:01:29.519660Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.378",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Hypogammaglobulinemia has been reported in some cases which is relevant to this panel. However, patients are more likely to be recognised for skeletal muscle features of the disease presentation. Furthermore, the review is relevant to the CCTG repeat expansion rather than small variants (i.e. LoF, missense, etc) in this gene and therefore maintaining the Red rating on this panel.",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:01:29.467914Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.378",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: cnbp has been classified as Red List (Low Evidence).",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2020-11-24T16:52:53.644779Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.377",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: CNBP were set to ",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2020-11-24T16:52:39.391093Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.376",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNBP was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:48:36.667020Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.568",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: DNMT3A was changed from None to Other",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:48:11.196332Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.568",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT3A were changed from OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY to Tatton-Brown-Rahman syndrome OMIM:615879; Heyn-Sproul-Jackson syndrome OMIM:618724; MONDO:0032882",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:47:04.445888Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.567",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on mode of pathogenicity: Tatton-Brown-Rahman syndrome 615879 is associated with loss of function variants and Heyn-Sproul-Jackson syndrome OMIM:618724 is associated with gain of function variants.",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:47:04.420897Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.567",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: DNMT3A was changed from to None",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:41:56.110711Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.47",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT3A were changed from Heyn-Sproul-Jackson syndrome 618724 to Heyn-Sproul-Jackson syndrome OMIM:618724; MONDO:0032882",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:32:20.423315Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.46",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: DNMT3A: Added comment: Associated with relevant phenotype (Heyn-Sproul-Jackson syndrome 618724) in OMIM and as probable Gen2Phen gene for Microcephalic primordial dwarfism. At least two gain of function variants reported in three unrelated cases, together with supportive functional studies (pmid 30478443).; Changed rating: GREEN",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:28:01.512808Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.46",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: DNMT3A.",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:27:44.710291Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.46",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT3A were changed from intellectual disability; microcephaly; short stature to Heyn-Sproul-Jackson syndrome 618724",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:26:34.376267Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.45",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: DNMT3A as Amber List (moderate evidence)",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:26:34.369489Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.45",
"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.\r\nNote gain of function variants associated with this phenotype.",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:26:34.320735Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.45",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: dnmt3a has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:14:15.989879Z",
"panel_name": "RASopathies",
"panel_id": 48,
"panel_version": "1.74",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: HRAS were set to 16170316; 16969868; 16443854; 21396583",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:05:37.359692Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.375",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: UBA1 as Red List (low evidence)",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:05:37.346939Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.375",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: uba1 has been classified as Red List (Low Evidence).",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:05:24.410215Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.374",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: UBA1 as No list",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:05:24.405278Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.374",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. Relevant phenotype but rating Red as this panel is not appropriate for somatic variant detection due to the coverage and therefore variants are unlikely to be picked up by our current pipeline (added 'somatic' tag).",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:05:24.366744Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.374",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: uba1 has been removed from the panel.",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:04:03.060744Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: LMNB2: Added comment: Not associated with a relevant phenotype in OMIM or in Gen2Phen. PMID 33033404 reports five individuals with heterozygous variants in LMNB2. One of these cases was de novo for c.160A>C p.N54H (NM_032737.4) and the remaining cases had c.1192G>A, p.Glu398Lys (NM_032737.4), which was shown to be de novo in two cases, inherited from the unaffected mother (who was mosaic for the variant) and the inheritance in the remaining case was not established. All of these cases had moderate to severe developmental delay and microcephaly.; Changed rating: GREEN",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:03:30.185815Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: LMNB2.",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:03:21.121674Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: LMNB2 as Amber List (moderate evidence)",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:03:21.116150Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.44",
"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": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:03:21.075409Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: lmnb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:03:10.742771Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.566",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: LMNB2 as Amber List (moderate evidence)",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:03:10.737219Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.566",
"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": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:03:10.702231Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.566",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: lmnb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:02:11.099450Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.565",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: LMNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33033404; Phenotypes: ; Mode of inheritance: None",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-11-24T11:53:01.374910Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.225",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: LMNB2: Rating: RED; Mode of pathogenicity: None; Publications: 33033404; Phenotypes: ; Mode of inheritance: None",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-11-24T11:49:01.436514Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.373",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: UBA1 were changed from Autoinflammatory disease, adult onset; VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) to VEXAS syndrome, somatic, OMIM:301054",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-24T11:47:43.471828Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.372",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: UBA1.",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-24T11:33:44.822572Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.225",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: LMNB2 were set to 16826530",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-11-24T09:54:24.323975Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.372",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SOCS1 were changed from Common variable immunodeficiency to Common variable immunodeficiency; Early-onset autoimmunity",
"entity_name": "SOCS1",
"entity_type": "gene"
},
{
"created": "2020-11-24T09:54:17.855730Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.371",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: SOCS1 were set to 32499645; 10490099; 10490100",
"entity_name": "SOCS1",
"entity_type": "gene"
},
{
"created": "2020-11-24T09:54:05.650806Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.370",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: SOCS1.",
"entity_name": "SOCS1",
"entity_type": "gene"
},
{
"created": "2020-11-24T09:53:56.378975Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.370",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: SOCS1 as Amber List (moderate evidence)",
"entity_name": "SOCS1",
"entity_type": "gene"
},
{
"created": "2020-11-24T09:53:56.375560Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.370",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag) - at least 7 unrelated families with immune dysfunction associated with variants in this gene, as well as supportive functional data and animal model.",
"entity_name": "SOCS1",
"entity_type": "gene"
}
]
}