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[
{
"created": "2024-04-26T11:10:11.628497Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.34",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: LIG4 were changed from 606593 LIG4 syndrome to LIG4 syndrome, OMIM:606593",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:34:05.706301Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Roifman syndrome, 616651; Microcephalic osteodysplastic primordial dwarfism, type I, 210710 to Roifman syndrome, OMIM:616651",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-04-17T10:13:38.576767Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: FCGR3B as Red List (low evidence)",
"entity_name": "FCGR3B",
"entity_type": "gene"
},
{
"created": "2024-04-17T10:13:38.572188Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.\r\n\r\nAlso note review from Helen Brittain (Genomics England Clinical Team) on 100K panel Cytopenias and congenital anaemias (159) from 9 Mar 2017:\r\n\r\n\"Relevant phenotype affects neutrophils only, on a transient basis owing to presence of antibodies in mother and antigen in fetus (as a result of different genetic factors in father and mother.). Therefore not a germline condition associated with mutations in the child.\"",
"entity_name": "FCGR3B",
"entity_type": "gene"
},
{
"created": "2024-04-17T10:13:38.531079Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: fcgr3b has been classified as Red List (Low Evidence).",
"entity_name": "FCGR3B",
"entity_type": "gene"
},
{
"created": "2024-04-15T15:10:01.814954Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.31",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_24_promote_green tag was added to gene: RRAS.",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2024-04-15T15:07:48.603130Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.31",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: RRAS were set to 34935735",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2024-04-15T15:06:54.646302Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.30",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: RRAS: RRAS variants have not associated with a phenotype in OMIM or MONDO, but Gen2Phen lists a strong association between RRAS variants and RRAS-related atypical Noonan syndrome. Three germline RRAS variants have been reported (PMID: 24705357; 32815881; 34935735), associated with a RASopathy, which includes myelodysplastic syndrome and contributes to leukaemogenesis.",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2024-04-15T15:04:05.626637Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.30",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: RRAS: Added comment: RRAS variants have not associated with a phenotype in OMIM or MONDO, but Gen2Phen lists a strong association between RRAS variants and RRAS-related atypical Noonan syndrome. Three germline RRAS variants have been reported (PMID: 24705357; 32815881; 34935735), associated with a RASopathy, which includes myelodysplastic syndrome and contributes to leukaemogenesis.; Changed rating: GREEN; Changed publications to: 24705357, 32815881, 34935735; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2024-04-15T13:50:44.070666Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.30",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: RRAS-related atypical Noonan syndrome phenotype from Gen2Phen",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2024-04-15T13:50:43.997887Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.30",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: RRAS were changed from Pediatric Myelodysplastic Syndrome to RRAS-related atypical Noonan syndrome",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2024-04-15T13:48:28.095536Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.29",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: RRAS were set to PMID: 34935735",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2024-04-15T13:48:16.054264Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.28",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: RRAS as Amber List (moderate evidence)",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2024-04-15T13:48:16.042869Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.28",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: rras has been classified as Amber List (Moderate Evidence).",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2024-03-12T16:44:10.705357Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.27",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CYCS were changed from Thrombocytopenia 4, 612004; Thrombocytopenia to Thrombocytopenia 4, OMIM:612004",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2024-03-11T10:50:20.451062Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA4A were changed from Thrombocytopenia to autosomal dominant macrothrombocytopenia, MONDO:0015372",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-03-11T10:49:47.989440Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: TUBA4A as Red List (low evidence)",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-03-11T10:49:47.979745Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: tuba4a has been classified as Red List (Low Evidence).",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-03-11T10:49:24.942141Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.24",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: TUBA4A: Rating: RED; Mode of pathogenicity: None; Publications: 30760556; Phenotypes: autosomal dominant macrothrombocytopenia, MONDO:0015372; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-03-04T17:20:11.837457Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia, 242900 to Schimke immunoosseous dysplasia, OMIM:242900",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2024-03-01T15:04:52.580663Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.23",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: TUBA8: Changed publications to: 34704371",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2024-03-01T15:04:30.444752Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.23",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: TUBA8: Six unrelated individuals were identified with TUBA8 missense variants in a large cohort of blood donors with mild thrombocytopenia and these individuals were generally asymptomatic and one had menorrhagia. There is also some functional data available.",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2024-03-01T15:04:14.975943Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.23",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: TUBA8 as Amber List (moderate evidence)",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2024-03-01T15:04:14.964691Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.23",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2024-03-01T15:00:03.782810Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.22",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA8 were changed from Macrothrombocytopenia, isolated, 2, autosomal dominant to Macrothrombocytopenia, isolated, 2, autosomal dominant, OMIM:619840",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2024-03-01T14:59:41.559493Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.21",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: TUBA8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Macrothrombocytopenia, isolated, 2, autosomal dominant, OMIM:619840; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2024-01-26T10:35:06.250958Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.21",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "reviewed gene: FCGR3B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FCGR3B",
"entity_type": "gene"
},
{
"created": "2024-01-03T12:36:24.424796Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_23_NHS_review was removed from gene: DUT.",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2024-01-03T12:35:55.122664Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Primary immunodeficiency or monogenic inflammatory bowel disease v4.133",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2024-01-03T12:35:55.025046Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: DUT was added\ngene: DUT was added to Cytopenia - NOT Fanconi anaemia. Sources: Expert Review Amber,Literature\nQ4_23_promote_green, Q4_23_NHS_review tags were added to gene: DUT.\nMode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DUT were set to 28073829; 35611808; 35931051\nPhenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome, OMIM:620044",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2023-11-22T15:40:50.772313Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.20",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: TUBA8 was added\ngene: TUBA8 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature\nMode of inheritance for gene: TUBA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBA8 were set to 34704371\nPhenotypes for gene: TUBA8 were set to Macrothrombocytopenia, isolated, 2, autosomal dominant\nReview for gene: TUBA8 was set to AMBER\nAdded comment: PMID: 34704371 (2022) identified rare variants in this gene in patients with macrothrombocytopenia. Associated with a phenotype on OMIM \nSources: Literature",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2023-11-22T15:38:37.925055Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.20",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: TUBA4A was added\ngene: TUBA4A was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature\nMode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBA4A were set to 30760556\nPhenotypes for gene: TUBA4A were set to Thrombocytopenia\nReview for gene: TUBA4A was set to RED\nAdded comment: Linked to thrombocytopenia (PMID: 30760556, 2019) - only one patient reported \nSources: Literature",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2023-11-10T15:06:58.469665Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: SRPRA as Amber List (moderate evidence)",
"entity_name": "SRPRA",
"entity_type": "gene"
},
{
"created": "2023-11-10T15:06:58.453581Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Hannah Knight, there is one case and functional studies (including zebrafish model) available in support of the association of this gene with severe congenital neutropenia. Hence, this gene can be rated amber with current evidence.",
"entity_name": "SRPRA",
"entity_type": "gene"
},
{
"created": "2023-11-10T15:06:58.352853Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: srpra has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRPRA",
"entity_type": "gene"
},
{
"created": "2023-11-10T15:04:58.645228Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.19",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: SRPRA were changed from Severe congenital neutropenia to severe congenital neutropenia, MONDO:0018542",
"entity_name": "SRPRA",
"entity_type": "gene"
},
{
"created": "2023-11-10T15:04:39.474981Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: SRPRA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: severe congenital neutropenia, MONDO:0018542; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SRPRA",
"entity_type": "gene"
},
{
"created": "2023-11-10T14:54:00.082415Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: SRP19 as Amber List (moderate evidence)",
"entity_name": "SRP19",
"entity_type": "gene"
},
{
"created": "2023-11-10T14:54:00.077847Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Hannah Knight, there are two related families with severe congenital neutropenia and functional studies in support of this association. Hence, this gene can be rated amber with current evidence.",
"entity_name": "SRP19",
"entity_type": "gene"
},
{
"created": "2023-11-10T14:54:00.046754Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: srp19 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRP19",
"entity_type": "gene"
},
{
"created": "2023-11-10T14:52:30.103261Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: SRP19 were changed from Severe congenital neutropenia to severe congenital neutropenia, MONDO:0018542",
"entity_name": "SRP19",
"entity_type": "gene"
},
{
"created": "2023-11-10T14:52:15.143742Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.16",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: SRP19: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: severe congenital neutropenia, MONDO:0018542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SRP19",
"entity_type": "gene"
},
{
"created": "2023-11-10T14:27:39.939153Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.16",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: SEC61A1 were set to 32325141; 27392076",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2023-11-10T14:27:31.830336Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.15",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: SEC61A1 were changed from Severe congenital neutropenia; Tubulointerstitial kidney disease, autosomal dominant, 5 to severe congenital neutropenia, MONDO:0018542; Tubulointerstitial kidney disease, autosomal dominant, 5, OMIM:617056",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2023-11-10T14:27:13.311520Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.14",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: SEC61A1 as Amber List (moderate evidence)",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2023-11-10T14:27:13.308369Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.14",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Hannah Knight, there are two unrelated cases reported with neutropenia. Hence, this gene can be rated amber with the current evidence.",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2023-11-10T14:27:13.288612Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.14",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: sec61a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2023-11-10T14:25:35.747483Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.13",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: SEC61A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: severe congenital neutropenia, MONDO:0018542, Tubulointerstitial kidney disease, autosomal dominant, 5, OMIM:617056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2023-11-07T19:52:48.811685Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.13",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: TCIRG1.",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2023-11-07T19:52:32.253697Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.13",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: TCIRG1 as Amber List (moderate evidence)",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2023-11-07T19:52:32.249260Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.13",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Although there are three cases reported so far, only two of these cases were reported in peer-reviewed publications. Hence, this gene is currently rated amber. In addition, watchlist tag has been added.",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2023-11-07T19:52:32.222641Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.13",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: tcirg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2023-11-07T19:51:07.536789Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.12",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: TCIRG1 were changed from Congenital neutropenia to severe congenital neutropenia, MONDO:0018542",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2023-11-07T19:50:59.150828Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.11",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: TCIRG1 were set to 24753205",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2023-11-07T19:49:59.026333Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: TCIRG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24753205, 35573728; Phenotypes: severe congenital neutropenia, MONDO:0018542; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2023-11-06T16:31:06.693146Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: RAP1B.\nTag Q4_23_promote_green tag was added to gene: RAP1B.\nTag Q4_23_NHS_review tag was added to gene: RAP1B.",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-11-06T16:30:38.821455Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: RAP1B as Amber List (moderate evidence)",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-11-06T16:30:38.817432Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There are three unrelated cases with cytopenia and hence this gene can be promoted to green rating in the next GMS review.\r\n\r\nThis gene has been associated with relevant phenotype in Gene2Phenotype database (with 'limited' rating in the DD panel), but not yet been associated with phenotypes in OMIM.",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-11-06T16:30:38.800261Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: rap1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-11-06T16:27:41.517418Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.9",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: RAP1B were set to 32627184; 26280580",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-11-06T16:27:20.480993Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.8",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAP1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-11-06T16:27:05.439387Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.7",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: RAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32627184, 35451551; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-10-13T17:57:18.428650Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_NHS_review tag was added to gene: CXCR2.",
"entity_name": "CXCR2",
"entity_type": "gene"
},
{
"created": "2023-10-13T10:00:59.518071Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.4",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: SRP19 was added\ngene: SRP19 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature\nMode of inheritance for gene: SRP19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SRP19 were set to 36223592\nPhenotypes for gene: SRP19 were set to Severe congenital neutropenia\nReview for gene: SRP19 was set to AMBER\nAdded comment: PMID: 36223592 - a novel homozygous variant in SRP19 was identified in 2 related pedigrees with 5 patients affected (c.189+5G>A) + functional studies \nSources: Literature",
"entity_name": "SRP19",
"entity_type": "gene"
},
{
"created": "2023-10-13T10:00:00.530209Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.4",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: SRPRA was added\ngene: SRPRA was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature\nMode of inheritance for gene: SRPRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SRPRA were set to 36223592\nPhenotypes for gene: SRPRA were set to Severe congenital neutropenia\nReview for gene: SRPRA was set to AMBER\nAdded comment: PMID: 36223592 - A novel heterozygous de novo variant in SRPRA was found in 1 pedigree with 1 patient (p.Gln464Glu) - results in an amino acid exchange (glutamine to glutamic acid, position 464) in an alpha helix loop close to the GTPase active center known to mediate interaction with the cognate-binding partner, SRP54 (known cause of SCN)\r\n+ functional studies \nSources: Literature",
"entity_name": "SRPRA",
"entity_type": "gene"
},
{
"created": "2023-10-13T09:58:44.251078Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.4",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: SEC61A1 was added\ngene: SEC61A1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature\nMode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEC61A1 were set to 32325141; 27392076\nPhenotypes for gene: SEC61A1 were set to Severe congenital neutropenia; Tubulointerstitial kidney disease, autosomal dominant, 5\nReview for gene: SEC61A1 was set to AMBER\nAdded comment: PMID: 32325141 - reported a patient with a de novo variant in this gene, presenting with severe congenital neutropenia and recurrent infections\r\nPMID: 27392076 - neutropenia previously reported in a father and daughter with tubulointerstitial kidney disease due to a heterozygous SEC61A1 variant \nSources: Literature",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2023-10-12T11:04:33.520792Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: CXCR2 were changed from ?WHIM syndrome 2 to ?WHIM syndrome 2, OMIM:619407",
"entity_name": "CXCR2",
"entity_type": "gene"
},
{
"created": "2023-10-12T11:04:19.667683Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: CXCR2 as Amber List (moderate evidence)",
"entity_name": "CXCR2",
"entity_type": "gene"
},
{
"created": "2023-10-12T11:04:19.649687Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Hannah Knight, there are five unrelated cases available in support of the association of biallelic CXCR2 variants to this panel. Hence, this gene can be promoted to green rating in the next GMS review.",
"entity_name": "CXCR2",
"entity_type": "gene"
},
{
"created": "2023-10-12T11:04:19.614518Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: cxcr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CXCR2",
"entity_type": "gene"
},
{
"created": "2023-10-12T11:00:13.061126Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: CXCR2.",
"entity_name": "CXCR2",
"entity_type": "gene"
},
{
"created": "2023-10-12T10:59:53.621862Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: CXCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?WHIM syndrome 2, OMIM:619407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CXCR2",
"entity_type": "gene"
},
{
"created": "2023-10-09T09:50:30.947670Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.2",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: CXCR2 was added\ngene: CXCR2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature\nMode of inheritance for gene: CXCR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CXCR2 were set to 24777453; 34854278\nPhenotypes for gene: CXCR2 were set to ?WHIM syndrome 2\nReview for gene: CXCR2 was set to GREEN\nAdded comment: Five patients reported with biallelic variants. 2 sisters with neutropaenia, myelokathexis, and recurrent bacterial infections and homozygous frameshift variant in this gene (PMID: 24777453). Of other four patients, one had biallelic null variants and presented with neutropenia and myelokathexis (PMID: 34854278). Others all had biallelic missense variants, and presented with neutropenia \nSources: Literature",
"entity_name": "CXCR2",
"entity_type": "gene"
},
{
"created": "2023-08-21T08:52:39.574241Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.2",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "reviewed gene: RAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35451551; Phenotypes: Syndromic thrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-08-21T08:27:28.373321Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.2",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: TCIRG1 was added\ngene: TCIRG1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature\nMode of inheritance for gene: TCIRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TCIRG1 were set to 24753205\nPhenotypes for gene: TCIRG1 were set to Congenital neutropenia\nPenetrance for gene: TCIRG1 were set to unknown\nReview for gene: TCIRG1 was set to AMBER\nAdded comment: A specific, novel variant in TCIRG1 (R736S) identified as the probable cause for SCN in a large multigenerational family through exome sequencing (Makaryan et al. 2014 - PMID 24753205)\r\nIn 2022, a new family identified in Taiwan to have a variant affecting the same amino acid (R736C) - https://doi.org/10.1182/blood-2022-159214 \nSources: Literature",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2023-04-13T15:58:22.411177Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MECOM were changed from Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738; 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2023-03-22T16:40:54.201211Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.1",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T16:40:08.670765Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.0",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-02-07T13:51:38.563788Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval. The GMS reviewers note that this gene should be demoted to amber as there is only one case, but supported by functional studies and mutation of multiple other ribosomal genes results in the same phenotype.; to: The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval. The GMS reviewers note that this gene should be demoted to amber as there is only one case, but supported by functional studies and mutation of multiple other ribosomal genes results in the same phenotype.",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2023-02-07T13:51:13.801290Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: RPL27: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2023-02-07T13:47:14.286976Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2023-02-07T13:47:01.664981Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2023-02-07T13:46:47.713682Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: RPL27 as Amber List (moderate evidence)",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2023-02-07T13:46:47.704419Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: rpl27 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2023-02-02T11:15:22.897294Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: RPL27.\nTag Q3_22_expert_review was removed from gene: RPL27.",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:22:32.045124Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. GMS reviewers also note that mutations are associated with only platelet features not multi-lineage cytopenias.",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:21:33.918585Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_22_rating was removed from gene: GP1BB.",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:20:31.059614Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_22_rating was removed from gene: RPA1.",
"entity_name": "RPA1",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:19:40.916636Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. GMS reviewers also note that the monoallelic variants that were previously reported for this gene were associated with thrombocythaemia and not with thrombocytopenia.",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:18:21.891238Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_22_MOI was removed from gene: MPL.\nTag Q2_22_expert_review was removed from gene: MPL.",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:17:15.909036Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_22_MOI was removed from gene: KLF1.",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:16:31.671071Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: CLPB.",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:15:06.571645Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: RPL27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:15:06.561033Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: GP1BB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:15:06.549065Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: RPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPA1",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:15:06.537322Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: MPL",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:15:06.524231Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: KLF1",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:15:06.511564Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:14:53.794034Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source Expert Review Green was added to RPA1.\nSource NHS GMS was added to RPA1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "RPA1",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:14:53.663448Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene MPL was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:14:53.547360Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:14:53.433480Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source Expert Review Green was added to CLPB.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2023-01-21T17:28:15.635029Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.1",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "gene: RRAS was added\ngene: RRAS was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature\nMode of inheritance for gene: RRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RRAS were set to PMID: 34935735\nPhenotypes for gene: RRAS were set to Pediatric Myelodysplastic Syndrome\nPenetrance for gene: RRAS were set to unknown\nMode of pathogenicity for gene: RRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: RRAS was set to GREEN\nAdded comment: 34935735 describes a new case and provides info from 3 cases from the literature with RASopathy AND pediatric MDS. Only de novo missense variants were found. Therefore, enough evidence for green rating. \nSources: Literature",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-11-30T15:35:56.254213Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.1",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version 2.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T15:35:15.526296Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "2.0",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-17T12:01:59.807948Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.73",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TERT were changed from {Pulmonary fibrosis, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal dominant 2}, 613989; Coronary artery disease; {Melanoma, cutaneous malignant, 9}, 615134; 614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; Aplastic Anemia; 614742 {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}; {Leukemia, acute myeloid}, 601626; 613989 Dyskeratosis congenita; {Dyskeratosis congenita, autosomal recessive 4}, 613989 to Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2022-10-05T23:22:16.494791Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.72",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: RPL27",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2022-10-05T23:22:05.829433Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.72",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_expert_review was removed from gene: RPL27.\nTag Q3_22_rating tag was added to gene: RPL27.\nTag Q3_22_expert_review tag was added to gene: RPL27.",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2022-08-30T15:18:26.303323Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271 to 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835; Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-08-30T15:00:49.938707Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.71",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: CLPB were set to 25597510; 25597511; 25650066; 26916670; 28687938; 34140661",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-06-16T13:56:41.787521Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.70",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease Ib, 232220 to Glycogen storage disease Ib, OMIM:232220; Glycogen storage disease Ic, OMIM:232240",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2022-06-03T15:38:45.798738Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.69",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "edited their review of gene: CLPB: Added comment: additional evidence in PMID: 34115842; Changed publications to: PMID: 34140661, 34115842",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-05-10T15:28:09.087180Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: TAZ",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2022-05-10T15:24:13.682666Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: TAZ.",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:57:12.675959Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: GP1BB were set to ",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:49:25.975532Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: GP1BB as Amber List (moderate evidence)",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:49:25.971666Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene should be promoted to Green at the next GMS review. Variants are associated with Bernard-Soulier syndrome characterised by thrombocytopenia (within the scope of this panel), giant platelets and bleeding tendency. Sufficient cases for both inheritance patterns to rate as green with an AD/AR mode of inheritance.",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:49:25.952007Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: gp1bb has been classified as Amber List (Moderate Evidence).",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:42:49.098528Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.67",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_22_rating tag was added to gene: GP1BB.",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:42:18.604791Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.67",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: GP1BB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:42:06.786068Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.66",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Updated from 'biallelic' to 'both mono- and biallelic' to align with the MOI set on other panels (Inherited bleeding disorders, Bleeding and platelet disorders). PMID:28064200 provides evidence for AD inheritance of macrothrombocytopenia.",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:42:06.756000Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.66",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: GP1BB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:37:39.786369Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.65",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GP1BB were changed from Bernard-Soulier syndrome, type B, 231200; Mild macrothrombocytopenia to Bernard-Soulier syndrome, type B, OMIM:231200; Giant platelet disorder, isolated, OMIM:231200; Macrothrombocytopenia",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2022-04-13T10:56:46.034945Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.64",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PARN were changed from 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6; 616353 Dyskeratosis congenita, autosomal recessive 6 to Dyskeratosis congenita, autosomal recessive 6, OMIM:616353; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2022-04-12T11:26:58.795783Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.63",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: The MOI on this panel should be reviewed at the next GMS panel update to determine the pertinent inheritance pattern (currently set to both AD/AR). \r\n\r\nBiallelic variants cause thrombocytopenia (MIM# 604498) which in severe forms can present with pancytopenia, a phenotype that is within the scope of this panel. On the other hand, monoallelic variants are associated with thrombocythemia (MIM# 601977) which does not include features that may be relevant here. Therefore it may be appropriate to update the MOI to 'biallelic' only.",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2022-04-12T11:26:58.773074Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.63",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: MPL was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2022-04-12T11:17:53.581842Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_22_MOI tag was added to gene: MPL.\nTag Q2_22_expert_review tag was added to gene: MPL.",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2022-04-12T11:16:11.501873Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MPL were changed from 601977 Thrombocythemia 2; 604498 Thrombocytopenia, congenital amegakaryocytic; Thrombocytopenia, congenital amegakaryocytic, 604498 to Thrombocytopenia, congenital amegakaryocytic, OMIM:604498",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2022-04-06T10:55:47.174184Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.61",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: RPA1 as Amber List (moderate evidence)",
"entity_name": "RPA1",
"entity_type": "gene"
},
{
"created": "2022-04-06T10:55:47.170552Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.61",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Despite the heterogenous phenotypes observed, there are sufficient cases (3) with hematopoietic manifestations to warrant a green rating on this panel at the next GMS review.",
"entity_name": "RPA1",
"entity_type": "gene"
},
{
"created": "2022-04-06T10:55:47.150310Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.61",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: rpa1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPA1",
"entity_type": "gene"
},
{
"created": "2022-04-06T10:47:41.620848Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.60",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_22_rating tag was added to gene: RPA1.",
"entity_name": "RPA1",
"entity_type": "gene"
},
{
"created": "2022-04-06T10:47:18.004394Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.60",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Penetrance for gene RPA1 was set from to unknown",
"entity_name": "RPA1",
"entity_type": "gene"
},
{
"created": "2022-04-06T10:46:17.395515Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.59",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: RPA1 were set to ",
"entity_name": "RPA1",
"entity_type": "gene"
},
{
"created": "2022-04-06T10:45:55.169111Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: RPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34767620; Phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, OMIM:619767; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPA1",
"entity_type": "gene"
},
{
"created": "2022-04-06T09:57:14.617159Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RPA1 were changed from bone marrow failure; T- and B-cell lymphopenia; pulmonary fibrosis; skin manifestations. to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, OMIM:619767",
"entity_name": "RPA1",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:58:42.701527Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: RPL31.",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:58:33.727159Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that RPL31 should be amber.",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:58:04.370618Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: RPL9.",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:57:58.064540Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: KIF23.",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:57:46.410575Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: RPL26.",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:56:19.372751Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that KIF23 should be amber.",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:54:48.028416Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that RPL9 should be amber.",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:52:27.128586Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: STN1.",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:52:14.037134Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: SRP54.",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:51:59.925450Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: AK2.",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:51:31.301691Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: DDX41.",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:50:49.716431Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: NHP2.",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:50:35.172825Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: MYSM1.",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:50:17.929876Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: EFL1.",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:43.782522Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: RPL31: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:43.771226Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: RPL26: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:43.759925Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: KIF23: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:43.747765Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: RPL9: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:43.736993Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: STN1",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:43.722786Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: SRP54: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:43.711415Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: AK2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:43.700083Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: DDX41: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:43.688442Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: NHP2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:43.675909Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: MYSM1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:43.664532Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: EFL1",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:34.191833Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Amber was added to RPL31.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:34.031186Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Red was added to RPL26.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:33.901242Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Amber was added to KIF23.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:33.781461Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Amber was added to RPL9.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:33.663809Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to STN1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:33.542529Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to SRP54.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:33.424743Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to AK2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:33.304495Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to DDX41.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:33.186325Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to NHP2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:33.000911Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to MYSM1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:49:32.877980Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to EFL1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2022-03-01T11:59:21.033327Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.55",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q1_22_MOI tag was added to gene: KLF1.",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2022-03-01T11:58:59.670333Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.55",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: MOI should be updated from 'Monoallelic' only to 'Both mono- and biallelic, (biallelic more severe)'.\r\n\r\nThe expanded MOI is based on compound heterozygous cases in PMID:24443441; 25724378; 27282573; 28361594; 28369821. Heterozygous carrier parents may display features of beta thalassemia.",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2022-03-01T11:58:59.641700Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.55",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2022-03-01T11:58:38.086201Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.54",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: KLF1 were set to 21055716",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2022-03-01T11:58:27.058473Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.53",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KLF1 were changed from Dyserythropoietic anemia, congenital, type IV, 613673; Congenital Dyserythropoietic Anemia to Dyserythropoietic anemia, congenital, type IV, OMIM:613673",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2022-01-11T10:32:46.575626Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.52",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ADA2 were changed from Diamond Blackfan anaemia; 615688 Polyarteritis nodosa/Sneddon sydrome to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; Sneddon syndrome, OMIM:182410; Diamond-Blackfan Anemia",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2022-01-10T17:20:59.161676Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.51",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PSMB8 were changed from Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2021-12-07T15:51:30.524775Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.50",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: POLR2C were changed from Primary ovarian insufficiency to thrombocytopenia, MONDO:0002049",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2021-12-07T15:49:32.632527Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.49",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: POLR2C as Red List (low evidence)",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2021-12-07T15:49:32.624733Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.49",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: polr2c has been classified as Red List (Low Evidence).",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2021-12-07T15:49:25.911371Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.48",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. The affected patients in PMID: 29367954 also had hypothyroidism (3/5), thrombocytopenia (2/5) and pernicious anaemia (2/5).; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. The affected patients in PMID: 29367954 also had hypothyroidism (3/5), thrombocytopenia (2/5) and pernicious anaemia (2/5). The entries in ClinVar did not mention any other phenotype. So therefore this gene has been given a Red rating.",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2021-12-07T15:49:18.218979Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.48",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: POLR2C.",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2021-12-07T15:47:30.025435Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.48",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Primary ovarian insufficiency v1.62",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2021-12-07T15:47:29.985403Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.48",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: POLR2C was added\ngene: POLR2C was added to Cytopenia - NOT Fanconi anaemia. Sources: Expert Review Amber,Literature\nwatchlist tags were added to gene: POLR2C.\nMode of inheritance for gene: POLR2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR2C were set to 34794894; 29367954\nPhenotypes for gene: POLR2C were set to Primary ovarian insufficiency",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2021-11-15T15:51:16.848900Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: CLPB.",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2021-11-15T15:51:04.635704Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: CLPB as Amber List (moderate evidence)",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2021-11-15T15:51:04.632709Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Upgraded from Red to Amber but should be made Green at the next GMS panel update. \r\n\r\nNeutropenia is often reported and can be a severe and early feature, sometimes present from birth. Neutropenia was observed in at least 11 biallelic cases and 5 monoallelic cases which is sufficient for a Green rating under the MOI 'Both mono- and biallelic'",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2021-11-15T15:51:04.609960Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: clpb has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2021-11-15T15:48:25.678993Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.46",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: CLPB were set to ",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2021-11-15T15:27:33.762821Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2021-11-15T14:15:53.940718Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.44",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2021-11-12T19:21:46.056636Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.43",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "gene: RPA1 was added\ngene: RPA1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature\nMode of inheritance for gene: RPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPA1 were set to bone marrow failure; T- and B-cell lymphopenia; pulmonary fibrosis; skin manifestations.\nPenetrance for gene: RPA1 were set to unknown\nMode of pathogenicity for gene: RPA1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: RPA1 was set to GREEN\nAdded comment: 4 cases with gain of function mutations with \"including bone marrow failure, myelodysplastic syndrome, T- and B-cell lymphopenia, pulmonary fibrosis, or skin manifestations.\" described in\r\nhttps://doi.org/10.1182/blood.2021011980 \nSources: Literature",
"entity_name": "RPA1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:03:28.735766Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.43",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34140661; Phenotypes: Neutropenia, intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:47:13.907267Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RPS27 were changed from Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409 to ?Diamond-Blackfan anemia 17, OMIM:617409",
"entity_name": "RPS27",
"entity_type": "gene"
},
{
"created": "2021-07-12T13:31:40.731160Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLNA was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-12T13:31:31.197348Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.41",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: FLNA were changed from to Heterotopia, periventricular, 1, OMIM:300049; Macrothrombocytopenia",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-01T15:31:42.749675Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.40",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: MOI 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\" as the patient with AR inheritance had a more severe phenotype.",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2021-07-01T15:31:42.732514Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.40",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACD 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": "ACD",
"entity_type": "gene"
},
{
"created": "2021-06-30T11:41:31.333687Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.39",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ACD were changed from 616553 ?Dyskeratosis congenita 6 and 7 to Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; Dyskeratosis congenita, autosomal recessive 7, OMIM:616553",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2021-06-30T11:40:55.040940Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.38",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ACD as Green List (high evidence)",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2021-06-30T11:40:55.038185Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.38",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Only two families with DC who have variants in ACD have been reported since 2015 - one family with AD inheritance had only progressive bone marrow failure (PMID: 25205116) and one patient (patient B) with AR inheritance had a more severe phenotype (PMID: 25233904). However, this gene was rated Green on this and other panels following external clinical review - so this rating will be maintained at this time.",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2021-06-30T11:40:55.007860Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.38",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: acd has been classified as Green List (High Evidence).",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2021-06-19T02:02:56.134159Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACD: Rating: RED; Mode of pathogenicity: None; Publications: 25205116, 25233904; Phenotypes: Dyskeratosis congenita, MIM# 616553; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2021-04-06T10:22:52.301774Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.37",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ARPC1B were changed from Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2021-03-31T12:55:15.721828Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.36",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: RPL27",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-03-31T12:34:43.008419Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.36",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_expert_review tag was added to gene: RPL27.",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-03-23T11:56:53.517846Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.36",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-03-05T10:01:36.849143Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 16, MIM# 617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-01-14T11:42:12.804382Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: RPL31 as Green List (high evidence)",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2021-01-14T11:42:12.800675Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Current Green gene rating based on GMS specialist test group consensus. However, note the recent review by Zornitza Stark (Australian Genomics) highlighting limited published evidence to support this gene-disease association, which is only sufficient for an Amber rating at present. Will be flagged for review at the next GMS panel update (added 'for-review' tag).",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2021-01-14T11:42:12.763129Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: rpl31 has been classified as Green List (High Evidence).",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2021-01-14T11:38:52.016705Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.34",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: RPL31.",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-12-21T11:14:54.072653Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: RAP1B as Amber List (moderate evidence)",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-21T11:14:54.057642Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: rap1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-21T11:14:29.084300Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: RAP1B was added\ngene: RAP1B was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature\nwatchlist tags were added to gene: RAP1B.\nMode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RAP1B were set to 32627184; 26280580\nPhenotypes for gene: RAP1B were set to Syndromic intellectual disability; cytopenia\nReview for gene: RAP1B was set to AMBER\nAdded comment: This gene is associated with a phenotype in Gene2Phenotype but not OMIM.\r\n\r\nPMID: 32627184 describes 2 patients.\r\n36 yo patient of non-consanguineous parents. Had unclear pancytopenia, multiple congenital malformations, mild intellectual disability, endocrine disorders (short stature with growth hormone deficiency), dysmorphism and other features. Parents and sibling unaffected.\r\n13 yo of non-consanguineous parents with thrombocytopenia, multiple congenital anomalies and learning difficulties. He had normal developmental milestones, walk was achieved at 14 months and there was no speech delay. He attended mainstream school with auxiliary help because of learning difficulties with graphism, syntaxic comprehension, logical reasoning and attention deficit. Parents and siblings unaffected.\r\n\r\nPMID: 26280580 describes another patient with variant in RAP1B. The clinical features can be found in supplementary table 2. The table lists ID, but doesn't say severity and lists a host of other features including short stature, facial dysmorphism and skeletal findings. Cytopenia is not a feature for this patient.\r\n\r\nAll 3 cases seem to have a very wide spectrum of differing phenotypes and therefore, this gene has been given an Amber rating until further evidence is available. \nSources: Literature",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-11-30T12:18:52.662652Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: STN1 as Amber List (moderate evidence)",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2020-11-30T12:18:52.648210Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least four variants reported in three unrelated cases, together with a supportive zebrafish model and other functional studies.\r\n\r\nThere is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2020-11-30T12:18:52.579102Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: stn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2020-11-30T12:17:58.326491Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.31",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: STN1 was added\ngene: STN1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature\nfor-review tags were added to gene: STN1.\nMode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STN1 were set to 27432940; 32627942\nPhenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341\nReview for gene: STN1 was set to GREEN\nAdded comment: Comments from Zornitza Stark (Australian Genomics) Three individuals from unrelated families described with a multisystem disorder characterized by premature aging, pancytopaenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding, as well as intracranial calcifications and leukodystrophy, resulting in spasticity, ataxia, or dystonia. Gene belongs on multiple panels. \nSources: Literature",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2020-10-20T11:25:26.246940Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.30",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Current Green rating is based on consensus from GLHs, so will remain Green. However, the 'for-review' tag has been added in view of the recent Red review by Zornitza Stark on this Green gene. ; to: Comment on list classification: Current Green rating is based on consensus from GLHs, so will remain Green. Excluding the VUS, only two unrelated cases published with the same variant, but including functional data. The 'for-review' tag has been added in view of this evidence and recent Red review by Zornitza Stark on a Green gene. ",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-10-20T11:20:11.632760Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.30",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: RPL9.",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-10-20T11:20:02.138878Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.30",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Current Green rating is based on consensus from GLHs, so will remain Green.; to: Comment on list classification: Current Green rating is based on consensus from GLHs, so will remain Green. However, the 'for-review' tag has been added in view of the recent Red review by Zornitza Stark on this Green gene. ",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:25:34.736487Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.30",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "List of related panels changed from R91; R258 to R91\nPanel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-10-15T19:23:00.766121Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.29",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: EFL1 as Amber List (moderate evidence)",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:23:00.760603Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.29",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Changed rating to Amber to reflect NHS signed-off rating, will be reviewed at next major review.",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:23:00.734079Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.29",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: efl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:22:53.796632Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.28",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: EFL1.",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2020-10-12T13:42:11.922076Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.28",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TINF2 were changed from Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; 268130 Revesz syndrome; Revesz Syndrome; Dyskeratosis Congenita, Autosomal Dominant, 3; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; Dyskeratosis congenita; 613990 Dyskeratosis congenita, autosomal dominant 3; Dyskeratosis congenita, autosomal dominant 3, 613990; Revesz syndrome, 268130; Inherited Bone Marrow Failure Syndromes; Dyskeratosis Congenita, Dominant to Dyskeratosis congenita, autosomal dominant 3, 613990; Revesz syndrome, 268130; Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-10-09T12:52:54.287280Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.27",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: RPS20 as Amber List (moderate evidence)",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2020-10-09T12:52:54.283078Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.27",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating Amber as currently only two unrelated cases reported with DBA in association with variants in the RPS20 gene (PMID:32790018).",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2020-10-09T12:52:54.254463Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.27",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: rps20 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2020-10-05T09:05:57.304212Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS20 was added\ngene: RPS20 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature\nMode of inheritance for gene: RPS20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS20 were set to 32790018\nPhenotypes for gene: RPS20 were set to Diamond Blackfan anaemia\nReview for gene: RPS20 was set to AMBER\nAdded comment: Two unrelated cases where a de novo variant involving Ile84 (Ile84Ser and Ile84Asn), and reduce the RPS20 protein level in patient cells. Yeast models with mutation of the cognate residue resulted in defects in growth, ribosome biogenesis, and polysome formation. Loss of function may not be the mechanism of disease, because loss of function variants appear to be exclusively associated with familial colorectal cancer without the DBA phenotype. \nSources: Literature",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2020-09-30T15:30:36.689073Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.26",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: RPL9 as Green List (high evidence)",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-09-30T15:30:36.683977Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.26",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Current Green rating is based on consensus from GLHs, so will remain Green.",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-09-30T15:30:36.659406Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.26",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: rpl9 has been classified as Green List (High Evidence).",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-09-30T15:23:33.888002Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: RPL9: Rating: ; Mode of pathogenicity: None; Publications: 20116044, 29114930, 31799629; Phenotypes: Diamond Blackfan anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-09-30T14:12:33.554083Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: To date, only a single individual has been reported with Diamond-Blackfan anemia due to a de novo 2-nucleotide deletion in RPL26. Includes some in vitro functional data indicating the variants impairs RPL26 function in ribosome biogenesis (PMID: 22431104); to: To date, only a single individual has been reported with Diamond-Blackfan anemia due to a de novo 2-nucleotide deletion in RPL26. Includes some in vitro functional data indicating the variant impairs RPL26 function in ribosome biogenesis (PMID: 22431104)",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-09-30T14:11:37.576408Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: RPL26.",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-09-30T14:11:27.734668Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: RPL26 as Green List (high evidence)",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-09-30T14:11:27.730622Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Current Green rating is based on consensus from GLHs, so will remain Green. However, this gene will be flagged for review at the date of next GMS panel update (added 'for-review' tag).",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-09-30T14:11:27.706055Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: rpl26 has been classified as Green List (High Evidence).",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-09-30T14:10:09.915059Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: RPL26: Rating: ; Mode of pathogenicity: None; Publications: 22431104; Phenotypes: Diamond-Blackfan anemia 11, 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-09-30T13:22:52.192785Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: NOP10 were changed from Dyskeratosis congenita, autosomal recessive 1, 224230; 224230 Dyskeratosis congenita, autosomal recessive 1 to Dyskeratosis congenita, autosomal recessive 1, 224230",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2020-09-30T13:21:30.162718Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: NOP10: Rating: ; Mode of pathogenicity: None; Publications: 17507419; Phenotypes: Dyskeratosis congenita, autosomal recessive 1, 224230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2020-09-30T11:27:41.364910Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: NHP2 were changed from 613987 Dyskeratosis congenita, autosomal recessive 2; Dyskeratosis congenita, autosomal recessive 2, 613987; Dyskeratosis congenita, autosomal recessive 2,613987 to Dyskeratosis congenita, autosomal recessive 2, 613987",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-30T11:27:25.219703Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: NHP2 were set to 18523010",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-30T11:27:12.948225Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: NHP2.",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-30T11:27:06.858317Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: NHP2 as Amber List (moderate evidence)",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-30T11:27:06.854697Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: With addition of the recent paper flagged by Zornitza Stark (PMID:31985013), there is now a total of 3 unrelated cases with dyskeratosis congenita due to biallelic variants in NHP2, as well as supportive in vitro data. \r\n\r\nCases now reach threshold for inclusion and therefore, NHP2 should be promoted from Amber to Green at the next major review.",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-30T11:27:06.827728Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: nhp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-29T13:31:39.039665Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.20",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MYSM1 were changed from 618116 Bone marrow failure syndrome 4 to Bone marrow failure syndrome 4, 618116",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2020-09-29T13:31:24.730404Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: MYSM1 were set to ",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2020-09-29T13:31:09.227425Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: MYSM1 as Amber List (moderate evidence)",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2020-09-29T13:31:09.218185Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There are enough cases to support a gene-disease association, as well as several corroborative animal models. Therefore, there is sufficient evidence for MYSM1 to be upgraded from Amber to Green at the next major review.",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2020-09-29T13:31:09.166093Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: mysm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2020-09-29T13:26:59.788680Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: MYSM1.",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2020-09-29T13:07:28.612341Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Literature search showed KIF23 is a widely accepted cause of CDA type III, albeit only two families with the same variant have been published. \r\n\r\nFurthermore, current Green rating based on consensus from GLHs, so will remain Green. However, this gene will be flagged for review at the date of next GMS panel update (added 'for-review' tag).; to: Comment on list classification: Literature search showed KIF23 is a widely accepted cause of CDA type III, albeit only two families with the same variant have been published. \r\n\r\nFurthermore, current Green rating is based on consensus from GLHs, so will remain Green. However, this gene will be flagged for review at the date of next GMS panel update (added 'for-review' tag).",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2020-09-29T13:06:02.184077Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: KIF23.",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2020-09-29T13:05:56.504893Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: KIF23 as Green List (high evidence)",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2020-09-29T13:05:56.499449Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Literature search showed KIF23 is a widely accepted cause of CDA type III, albeit only two families with the same variant have been published. \r\n\r\nFurthermore, current Green rating based on consensus from GLHs, so will remain Green. However, this gene will be flagged for review at the date of next GMS panel update (added 'for-review' tag).",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2020-09-29T13:05:56.466585Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: kif23 has been classified as Green List (High Evidence).",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2020-09-29T12:56:44.957487Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: KIF23: Rating: ; Mode of pathogenicity: None; Publications: 23570799; Phenotypes: Congenital dyserythropoietic anemia type III; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:56:08.588764Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DDX41 were changed from 616871 Susceptibility to myeloid neoplasms to Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to, 616871",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:54:54.487996Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: DDX41 as Red List (low evidence)",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:54:54.482685Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: The rating of this gene should be re-evaluated by the GMS Haematology Specialist Test Group in context of the recent review by Zornitza Stark (added for-review tag)",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:54:54.439731Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ddx41 has been classified as Red List (Low Evidence).",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:51:58.193220Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: DDX41.",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:20:15.883910Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: SRP54 as Amber List (moderate evidence)",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:20:15.880642Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.14",
"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 major review - at least 28 unrelated cases with congenital neutropenia due to variants in SRP54",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:20:15.861522Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: srp54 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:20:09.029534Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on publications: Added publications to support association with this phenotype.",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:20:08.993826Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: SRP54 were set to 28972538",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:14:15.852417Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: SRP54.",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:58:45.372200Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SRP54 were changed from Syndromic neutropenia with Shwachman-Diamond-like features to Neutropenia, severe congenital, 8, autosomal dominant, 618752",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:47:20.039017Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown",
"entity_name": "NPM1",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:47:11.193331Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: NPM1 as Amber List (moderate evidence)",
"entity_name": "NPM1",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:47:11.188667Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rated Amber as additional cases required to corroborate causality and better define the phenotype. Both variants currently classified VUS - no information regarding segregation or zygosity.",
"entity_name": "NPM1",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:47:11.163887Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: npm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NPM1",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:46:32.270239Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: NPM1: Rating: ; Mode of pathogenicity: None; Publications: 31570891; Phenotypes: Dyskeratosis congenita; Mode of inheritance: Unknown",
"entity_name": "NPM1",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:36:19.646342Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AK2 were changed from Reticular dysgenesis, MIM# 267500 to Reticular dysgenesis, 267500",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:36:11.776918Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on publications: Added publications to support association with this phenotype.",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:36:11.754454Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: AK2 were set to 19043416",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:18:10.039791Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: AK2 as Amber List (moderate evidence)",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:18:10.034844Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.7",
"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 major review - >3 unrelated cases with reticular dysgenesis (leukopenia is part of the phenotype) due to biallelic variants in AK2.",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:18:09.991862Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ak2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:04:26.943730Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: AK2.",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2020-09-15T03:57:54.399768Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SRP54 was added\ngene: SRP54 was added to Cytopenia - NOT Fanconi anaemia. Sources: Expert list\nMode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SRP54 were set to 28972538\nPhenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features\nReview for gene: SRP54 was set to GREEN\ngene: SRP54 was marked as current diagnostic\nAdded comment: 3 unrelated families presented with neutropaenia associated with other symptoms, including exocrine pancreatic deficiency and/or autistic behavior, phenotypic overlap with Swachman-Diamond syndrome. \nSources: Expert list",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-09-14T08:37:29.007995Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID: 29114930, de novo splice site variant, c.-2+1G>C. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad. PMID 23718193, cannot find RPL9 variant in main results table.; to: PMID: 29114930, de novo splice site variant, c.-2+1G>C, functional impact of this variant is likely deleterious but not proven. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad. PMID 23718193, cannot find RPL9 variant in main results table.",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-09-14T08:31:23.196605Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RPL9: Changed rating: RED",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-09-14T08:31:14.204567Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID: 29114930, de novo splice site variant, c.-2+1G>C. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad. ; to: PMID: 29114930, de novo splice site variant, c.-2+1G>C. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad. PMID 23718193, cannot find RPL9 variant in main results table.",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-09-14T08:30:21.085732Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID: 29114930, de novo splice site variant, c.-2+1G>C.; to: PMID: 29114930, de novo splice site variant, c.-2+1G>C. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad. ",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-09-14T08:29:16.150917Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond Blackfan anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-09-14T08:05:47.358580Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL31: Rating: AMBER; Mode of pathogenicity: None; Publications: 25042156, 25424902; Phenotypes: Diamond Blackfan anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T07:54:56.136816Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL26: Rating: RED; Mode of pathogenicity: None; Publications: 22431104; Phenotypes: Diamond-Blackfan anemia 11, MIM# 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-09-14T04:02:51.163810Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPM1 was added\ngene: NPM1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Expert list\nMode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NPM1 were set to 31570891\nPhenotypes for gene: NPM1 were set to radial ray defects; short stature; nail dsytrophy; bone marrow failure\nReview for gene: NPM1 was set to GREEN\ngene: NPM1 was marked as current diagnostic\nAdded comment: Two unrelated individuals with a dyskeratosis congenita phenotype and extensive functional data to support gene-disease relationship. \nSources: Expert list",
"entity_name": "NPM1",
"entity_type": "gene"
},
{
"created": "2020-09-14T03:57:04.233835Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: None; Publications: 17507419; Phenotypes: Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2020-09-14T00:57:13.107664Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18523010, 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T00:50:58.393861Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYSM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24288411, 28115216, 26220525, 32640305; Phenotypes: Bone marrow failure syndrome 4, MIM#618116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2020-09-14T00:32:05.239614Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF23: Rating: RED; Mode of pathogenicity: None; Publications: 23570799; Phenotypes: Congenital dyserythropoietic anemia type III; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2020-09-13T23:09:20.543723Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDX41: Rating: GREEN; Mode of pathogenicity: None; Publications: 31698430, 31484648; Phenotypes: {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2020-09-13T08:34:30.078520Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AK2 was added\ngene: AK2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Expert list\nMode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AK2 were set to 19043416\nPhenotypes for gene: AK2 were set to Reticular dysgenesis, MIM# 267500\nReview for gene: AK2 was set to GREEN\ngene: AK2 was marked as current diagnostic\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2020-07-23T01:15:14.593282Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPS29: Rating: AMBER; Mode of pathogenicity: None; Publications: 24829207; Phenotypes: Diamond-Blackfan anemia 13, MIM# 615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2020-04-28T07:38:44.080802Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.6",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Publications for gene: EFL1 were set to 29970384, 28331068",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2020-04-28T07:38:41.154894Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.5",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: EFL1 as Green List (high evidence)",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2020-04-28T07:38:41.149016Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.5",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Upgrading to Green based on further individuals identified in publication PMID: 31151987",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2020-04-28T07:38:41.107533Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.5",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: efl1 has been classified as Green List (High Evidence).",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2020-03-03T17:17:37.195597Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.3",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-03T17:17:21.612158Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.2",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-12T16:51:04.216466Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "1.0",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-12T16:47:57.020763Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.137",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-04T19:36:48.286576Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to VWF.",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:48.184581Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to VPS13B.",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:48.083355Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to TUBB1.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:47.866970Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to TCN2.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:47.766651Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to STK4.",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:47.662554Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to STIM1.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:47.542008Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SRC.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:47.347586Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to SLFN14.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:47.151657Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to RUNX1.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:47.046588Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to RNU4ATAC.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:46.922245Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to RBM8A.\nRating Changed from Amber List (moderate evidence) to Red List (low evidence)",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:46.818889Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to PTPN11.",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:46.716538Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to PSMB8.",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:46.607575Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to NBEAL2.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:46.499760Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to MYH9.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:46.397513Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to MTHFD1.",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:46.297956Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to MSN.",
"entity_name": "MSN",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:46.105277Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to MPIG6B.\nRating Changed from Amber List (moderate evidence) to Red List (low evidence)",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:45.895983Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to LYST.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:45.796374Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to LAMTOR2.",
"entity_name": "LAMTOR2",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:45.696322Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to KDSR.",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:45.595169Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to ITGB3.",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:45.495328Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to ITGA2B.",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:45.395749Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to HTRA2.",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:45.295959Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to HOXA11.\nRating Changed from Amber List (moderate evidence) to Red List (low evidence)",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:45.190829Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to GP9.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:45.068034Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to GP1BB.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:44.913128Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to GP1BA.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:44.808897Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to GNE.",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:44.708760Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to GINS1.",
"entity_name": "GINS1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:44.321954Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to FLNA.",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:44.222986Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to FLI1.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:44.032021Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to DIAPH1.",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:43.829648Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to CLPB.",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:43.730327Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to CDC42.",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:43.630160Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to CD40LG.",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:43.452155Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to CD40.",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:43.353677Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to ARPC1B.",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:43.252025Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to AP3B1.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:43.061498Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to ADAMTS13.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:42.937958Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to ACTN1.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:42.839536Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to ACTB.",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:42.739651Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to ABCG8.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:36:42.637707Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to ABCG5.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.861991Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: WAS: Added comment: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there is enough evidence to rate this gene Green. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Wiskott-Aldrich syndrome, can present as neonatal thrombocytopenia; North West GLH: no comment submitted; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.; Changed rating: GREEN",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.850539Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: VWF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.837615Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: VPS13B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.822748Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TUBB1: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Macrothrombocytopenia, beta-tubulin 1 related; North West GLH: Not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted;London South GLH: no comment submitted.",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.811671Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: THPO: Added comment: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there is enough evidence to rate this gene Green. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH:Thrombocytopenia progressing to trilineage bone marrow failure; North West GLH: no comment submitted; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.; Changed rating: GREEN",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.800843Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.788729Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: STK4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.775704Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: STIM1: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Stormorken syndrome (York platelet syndrome); North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no commetn submitted; London South GLH: no comment submitted.",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.765362Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SRC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.752325Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: SMARCAL1: Added comment: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Multisystem disorder, skeletal defects seem to be consistently present, has not been associated with a cytopenia as presenting symptom; North West GLH:Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH:no comment submitted; London South GLH: no comment submitted; Changed rating: RED",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.741666Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SLFN14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.728173Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: SLC37A4: Added comment: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Glycogen storage disorders - other syndromic features (eg hypoglycaemia and splenomegaly) unlikely to present as neutropenia; North West GLH: Syndromic features, neutropenia, not isolated Thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.; Changed rating: RED",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.717056Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RUNX1: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Familial platelet disorder with predisposition to AML, typically presents with mild to moderate thrombocytopenia (normal sized platelets); North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.706837Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RNU4ATAC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.691830Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: RBM8A: Added comment: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Thrombocytopenia-absent radius syndrome (TAR); Thrombocytopenia is variable but skeletal abnormalities are always present so I would class red; however already agreed as Amber in July Update October: RBM8A is green on R90 (bleeding & platelet disorders panel), so its covered. Considering this, Id favour Red on R91 for consistency with other syndromic thrombocytopenia associated genes that weve considered for this panel; North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted ;London South GLH: no comment submitted.; Changed rating: RED",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.680253Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PTPN11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.668136Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PSMB8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.655068Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NBEAL2: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Gray platelet syndrome; associated with low platelet count; North West GLH: Not isolated thrombocytopenia; Yorkshire and North East GLH:no comment submitted; London South GLH: no comment submitted.",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.643808Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MYH9: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: May-Hegglin and other MYH9 disorders (macrothrombocytopenia plus other syndromic features); North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.633471Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MTHFD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.621428Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MSN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MSN",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.608500Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: MPL: Added comment: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there is enough evidence to rate this gene Green. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Congenital amegakaryocytic thrombocytopenia (CAMT) presents with isolated thrombocytopenia in infancy and developing into a pancytopenia in later childhood); North West GLH: no comment submitted; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.; Changed rating: GREEN",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.596951Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: MPIG6B: Added comment: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Typically Thrombocytopenia, anemia and myelofibrosis (myelofibrosis is a distinct phenotype that is not targeted by this panel) - but one case of child presenting with pancytopenia; North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.; Changed rating: RED",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.585541Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: MECOM: Added comment: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there is enough evidence to rate this gene Green. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Clinical spectrum ranged from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormality. Germeshausen 2018;North West GLH: no comment submitted; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.; Changed rating: GREEN",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.575008Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: LYST: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.562652Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: LAMTOR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LAMTOR2",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.550388Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KDSR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.538292Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ITGB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.526323Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ITGA2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.514385Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: HTRA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.501601Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: HOXA11: Added comment: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Amegakaryocytic thrombocytopenia with radioulnar synostosis; so far has always been described in combination with obvious skeletal defect; North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.; Changed rating: RED",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.491361Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GP9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.479242Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GP1BB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.466451Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GP1BA: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Mild macrothrombocytopenia; North West GLH: Platelet type VWD, mild thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.455492Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GNE: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.443596Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GINS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GINS1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.430765Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: GFI1: Added comment: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there is enough evidence to rate this gene Green. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Platelet type bleeding disorder 17; Severe congenital neutropenia 2; North West GLH: no comment submitted; Yorkshire and North East GLH: only 2 changes on HGMD neutropenia; London South GLH: no comment submitted. ; Changed rating: GREEN",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.419302Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: GATA1: Added comment: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there is enough evidence to rate this gene Green. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: X-linked thrombocytopenia with dyserythropoiesis; North West GLH: no comment submitted; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted. ; Changed rating: GREEN",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.405484Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: FYB1: Added comment: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there is enough evidence to rate this gene Green. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Thrombocytopenia 3; North West GLH: no comment submitted; Yorkshire and North East GLH: Rare (2cases); London South GLH: no comment submitted.; Changed rating: GREEN",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.395049Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FLNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.382982Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FLI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.370169Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: ETV6: Added comment: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there is enough evidence to rate this gene Green. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Thrombocytopenia and susceptibility to cancer; North West GLH: no comment submitted; Yorkshire and North East GLH:mainly somatic AML and some thrombocytopenia; London South GLH: no comment submitted.; Changed rating: GREEN",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.359406Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DIAPH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.346515Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: CYCS: Added comment: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there is enough evidence to rate this gene Green. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Autosomal dominant thrombocytopenia 4; North West GLH: no comment submitted; Yorkshire and North East GLH: rare (4 cases); London South GLH: no comment submitted.; Changed rating: GREEN",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.334820Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CLPB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.322660Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CDC42: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.308844Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CD40LG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.295703Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CD40: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.283122Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ARPC1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.271103Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: AP3B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.258042Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: ANKRD26: Added comment: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there is enough evidence to rate this gene Green. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Autosomal dominant thrombocytopenia 2; North West GLH: TTP and Upshaw-Schulman syndrome (recessive TTP); Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted. ; Changed rating: GREEN",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.246402Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ADAMTS13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.234492Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ACTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.222452Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.210407Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ABCG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:30:41.197728Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ABCG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:48.194616Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Green was added to WAS.",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:48.090789Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to VWF.",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:47.981570Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to VPS13B.",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:47.871243Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Amber was added to TUBB1.",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:47.767408Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Green was added to THPO.",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:47.664503Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Amber was added to TCN2.",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:47.559908Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to STK4.",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:47.456177Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Amber was added to STIM1.",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:47.351534Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Green was added to SRC.",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:47.250240Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to SMARCAL1.",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:47.147389Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Amber was added to SLFN14.",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:47.044308Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to SLC37A4.",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:46.923363Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Amber was added to RUNX1.",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:46.820992Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to RNU4ATAC.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:46.720798Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to RBM8A.",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:46.621189Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to PTPN11.",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:46.520427Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to PSMB8.",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:46.420952Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Amber was added to NBEAL2.",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:46.319614Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Amber was added to MYH9.",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:46.138606Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to MTHFD1.",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:46.039440Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to MSN.",
"entity_name": "MSN",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:45.874124Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Green was added to MPL.",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:45.767381Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to MPIG6B.",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:45.667896Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Green was added to MECOM.",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:45.566834Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to LYST.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:45.461691Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to LAMTOR2.",
"entity_name": "LAMTOR2",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:45.352954Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to KDSR.",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:45.252029Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to ITGB3.",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:45.143563Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to ITGA2B.",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:44.948618Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to HTRA2.",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:44.846419Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to HOXA11.",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:44.749044Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Amber was added to GP9.",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:44.649726Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Amber was added to GP1BB.",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:44.550031Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Amber was added to GP1BA.",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:44.451574Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to GNE.",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:44.333040Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to GINS1.",
"entity_name": "GINS1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:44.235294Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Green was added to GFI1.",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:44.134671Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Green was added to GATA1.",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:44.038594Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Green was added to FYB1.",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:43.925099Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to FLNA.",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:43.827369Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Amber was added to FLI1.",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:43.729104Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Green was added to ETV6.",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:43.633436Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to DIAPH1.",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:43.533478Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Green was added to CYCS.",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:43.438777Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to CLPB.",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:43.339807Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to CDC42.",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:43.241901Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to CD40LG.",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:43.139196Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to CD40.",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:43.041404Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to ARPC1B.",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:42.924341Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Amber was added to AP3B1.",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:42.821549Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Green was added to ANKRD26.",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:42.715717Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Amber was added to ADAMTS13.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:42.619174Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Amber was added to ACTN1.",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:42.522974Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Red was added to ACTB.",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:42.426610Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Amber was added to ABCG8.",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:22:42.319406Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert review Amber was added to ABCG5.",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:10.874811Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene VWF was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554; von Willibrand disease, type 3, 277480; von Willebrand disease, type 1, 193400 for gene: VWF",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:10.781232Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene VPS13B was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Cohen syndrome, 216550 for gene: VPS13B",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:10.619674Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene TCN2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Transcobalamin II deficiency, 275350 for gene: TCN2",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:10.520027Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene STK4 was changed from to Unknown\nAdded phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 for gene: STK4",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:10.423000Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene SRC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes ?Thrombocytopenia 6, 616937 for gene: SRC",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:10.326851Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene SLFN14 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Bleeding disorder, platelet-type, 20, 616913 for gene: SLFN14",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:10.217439Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene RNU4ATAC was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Roifman syndrome, 616651; Microcephalic osteodysplastic primordial dwarfism, type I, 210710 for gene: RNU4ATAC",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:10.119571Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene PTPN11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Noonan syndrome 1, 163950 for gene: PTPN11",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:10.024264Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene PSMB8 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 for gene: PSMB8",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:09.914194Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene MTHFD1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 for gene: MTHFD1",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:09.819465Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene MSN was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nAdded phenotypes Immunodeficiency 50, 300988 for gene: MSN",
"entity_name": "MSN",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:09.722801Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene LYST was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Chediak-Higashi syndrome, 214500 for gene: LYST",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:09.627272Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene LAMTOR2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Immunodeficiency due to defect in MAPBP-interacting protein, 610798 for gene: LAMTOR2",
"entity_name": "LAMTOR2",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:09.532092Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene KDSR was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Erythrokeratodermia variabilis et progressiva 4, 617526 for gene: KDSR",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:09.437161Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene ITGB3 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Glanzmann thrombasthenia, 273800 for gene: ITGB3",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:09.342525Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene ITGA2B was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Glanzmann thrombasthenia, 273800 for gene: ITGA2B",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:09.248277Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene HTRA2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 3-methylglutaconic aciduria, type VIII, 617248 for gene: HTRA2",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:09.154337Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene GP9 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Bernard-Soulier syndrome (includes macrothrombocytopenia); Bernard-Soulier syndrome, type C, 231200 for gene: GP9",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:09.060454Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene GP1BB was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Bernard-Soulier syndrome, type B, 231200; Mild macrothrombocytopenia for gene: GP1BB",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:08.944117Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene GNE was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Nonaka myopathy, 605820 for gene: GNE",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:08.848499Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene GINS1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Immunodeficiency 55, 617827 for gene: GINS1",
"entity_name": "GINS1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:08.754796Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene FLNA was changed from to Unknown",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:08.659712Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene FLI1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes Bleeding disorder, platelet-type, 21, 617443 for gene: FLI1",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:08.566403Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene DIAPH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Macrothrombocytopenia and hearing loss; Deafness, autosomal dominant 1, 124900 for gene: DIAPH1",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:08.471502Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene CLPB was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 for gene: CLPB",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:08.377249Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene CDC42 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Takenouchi-Kosaki syndrome, 616737 for gene: CDC42",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:08.282481Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene CD40LG was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nAdded phenotypes Immunodeficiency, X-linked, with hyper-IgM, 308230 for gene: CD40LG",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:08.187848Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene CD40 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Immunodeficiency with hyper-IgM, type 3, 606843 for gene: CD40",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:08.091778Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene ARPC1B was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 for gene: ARPC1B",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:07.994045Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene AP3B1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Hermansky-Pudlak syndrome 2, 608233 for gene: AP3B1",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:07.890906Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene ADAMTS13 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Thrombotic thrombocytopenic purpura, familial, 274150 for gene: ADAMTS13",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:07.797311Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene ACTN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Bleeding disorder, platelet-type, 15, 615193; Macrothrombocytopenia for gene: ACTN1",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:07.701085Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene ACTB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Baraitser-Winter syndrome 1 with macrothrombocytopenia; Baraitser-Winter syndrome 1, 243310 for gene: ACTB",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:07.606216Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene ABCG8 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Sitosterolemia with macrothrombocytopenia; Sitosterolemia, 210250 for gene: ABCG8",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:17:07.502707Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene ABCG5 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Sitosterolemia with macrothrombocytopenia; Sitosterolemia, 210250 for gene: ABCG5",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:50.264587Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: VWF was added\ngene: VWF was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: VWF was set to ",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:50.181772Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: VPS13B was added\ngene: VPS13B was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: VPS13B was set to ",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:50.050371Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to TUBB1.\nSource Yorkshire and North East GLH was added to TUBB1.\nSource North West GLH was added to TUBB1.",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:49.908862Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to THPO.",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:49.837809Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TCN2 was added\ngene: TCN2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: TCN2 was set to ",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:49.757476Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: STK4 was added\ngene: STK4 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: STK4 was set to ",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:49.632030Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to STIM1.\nSource Yorkshire and North East GLH was added to STIM1.\nSource North West GLH was added to STIM1.",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:49.552476Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SRC was added\ngene: SRC was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: SRC was set to ",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:49.421954Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to SMARCAL1.\nSource Yorkshire and North East GLH was added to SMARCAL1.\nSource North West GLH was added to SMARCAL1.",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:49.343485Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SLFN14 was added\ngene: SLFN14 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: SLFN14 was set to ",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:49.214707Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to SLC37A4.\nSource Yorkshire and North East GLH was added to SLC37A4.\nSource North West GLH was added to SLC37A4.",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:48.947877Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to RUNX1.\nSource Yorkshire and North East GLH was added to RUNX1.\nSource North West GLH was added to RUNX1.",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:48.868083Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RNU4ATAC was added\ngene: RNU4ATAC was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: RNU4ATAC was set to ",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:48.739656Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to RBM8A.",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:48.675426Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PTPN11 was added\ngene: PTPN11 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: PTPN11 was set to ",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:48.594399Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PSMB8 was added\ngene: PSMB8 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: PSMB8 was set to ",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:48.467220Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to NBEAL2.\nSource Yorkshire and North East GLH was added to NBEAL2.\nSource North West GLH was added to NBEAL2.",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:48.341180Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to MYH9.\nSource Yorkshire and North East GLH was added to MYH9.\nSource North West GLH was added to MYH9.",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:48.262215Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MTHFD1 was added\ngene: MTHFD1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: MTHFD1 was set to ",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:48.179208Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MSN was added\ngene: MSN was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: MSN was set to ",
"entity_name": "MSN",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:48.054247Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to MPL.",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:47.923327Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to MPIG6B.",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:47.805368Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to MECOM.",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:47.737926Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: LYST was added\ngene: LYST was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: LYST was set to ",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:47.655438Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: LAMTOR2 was added\ngene: LAMTOR2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: LAMTOR2 was set to ",
"entity_name": "LAMTOR2",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:47.573905Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: KDSR was added\ngene: KDSR was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: KDSR was set to ",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:47.491389Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ITGB3 was added\ngene: ITGB3 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: ITGB3 was set to ",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:47.409580Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ITGA2B was added\ngene: ITGA2B was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: ITGA2B was set to ",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:47.327048Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: HTRA2 was added\ngene: HTRA2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: HTRA2 was set to ",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:47.198413Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to HOXA11.\nSource North West GLH was added to HOXA11.",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:47.127802Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GP9 was added\ngene: GP9 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: GP9 was set to ",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:47.050581Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GP1BB was added\ngene: GP1BB was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: GP1BB was set to ",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:46.912639Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to GP1BA.\nSource Yorkshire and North East GLH was added to GP1BA.\nSource North West GLH was added to GP1BA.",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:46.836046Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GNE was added\ngene: GNE was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: GNE was set to ",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:46.755460Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GINS1 was added\ngene: GINS1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: GINS1 was set to ",
"entity_name": "GINS1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:46.447645Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to FYB1.",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:46.380365Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: FLNA was added\ngene: FLNA was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: FLNA was set to ",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:46.298239Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: FLI1 was added\ngene: FLI1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: FLI1 was set to ",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:46.173996Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to ETV6.\nSource North West GLH was added to ETV6.",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:46.105558Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DIAPH1 was added\ngene: DIAPH1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: DIAPH1 was set to ",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:45.974883Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to CYCS.\nSource North West GLH was added to CYCS.",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:45.897404Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CLPB was added\ngene: CLPB was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: CLPB was set to ",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:45.817584Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CDC42 was added\ngene: CDC42 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: CDC42 was set to ",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:45.739849Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CD40LG was added\ngene: CD40LG was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: CD40LG was set to ",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:45.658612Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CD40 was added\ngene: CD40 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: CD40 was set to ",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:45.580885Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ARPC1B was added\ngene: ARPC1B was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: ARPC1B was set to ",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:45.498488Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: AP3B1 was added\ngene: AP3B1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: AP3B1 was set to ",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:45.377246Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to ANKRD26.\nSource North West GLH was added to ANKRD26.",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:45.304321Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ADAMTS13 was added\ngene: ADAMTS13 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: ADAMTS13 was set to ",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:45.223228Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ACTN1 was added\ngene: ACTN1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: ACTN1 was set to ",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:45.145643Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ACTB was added\ngene: ACTB was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: ACTB was set to ",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:45.041297Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ABCG8 was added\ngene: ABCG8 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: ABCG8 was set to ",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-11-04T19:11:44.924242Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ABCG5 was added\ngene: ABCG5 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS\nMode of inheritance for gene: ABCG5 was set to ",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-11-04T18:53:02.736508Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.131",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB1 were changed from 613112 Macrothrombocytopenia to Macrothrombocytopenia, 613112",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-11-04T18:37:34.459742Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.130",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: STIM1 were changed from 185070 Stormorken syndrome to Stormorken syndrome, 185070",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-11-04T17:53:46.221234Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.129",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCAL1 were changed from 242900 Schimke immunoosseous dysplasia to Schimke immunoosseous dysplasia, 242900",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2019-11-04T17:45:57.063249Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.128",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SLC37A4 were changed from 232220 Glycogen storage disease Ib to Glycogen storage disease Ib, 232220",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2019-11-04T17:37:14.186716Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.127",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: RUNX1 were changed from 601399 Platelet disorder, familial, with associated myeloid malignancy to Platelet disorder, familial, with associated myeloid malignancy, 601399",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-11-04T17:03:09.737319Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.126",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: NBEAL2 were changed from 139090 Gray platelet syndrome to Gray platelet syndrome, 139090",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-11-04T16:58:58.679913Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.125",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: MYH9 were changed from 155100 Macrothrombocytopenia to Macrothrombocytopenia, 155100",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-11-04T16:20:48.606379Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.124",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: HOXA11 were changed from 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-11-04T16:09:32.660581Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.123",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: GP1BA were changed from 231200 Bernard-Soulier syndrome, type A1 to Bernard-Soulier syndrome, type A1, 231200; Mild macrothrombocytopenia; Platelet type VWD, mild thrombocytopenia",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-11-04T15:54:05.140156Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.122",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CYCS were changed from 612004 Thrombocytopenia 4; Thrombocytopenia to Thrombocytopenia 4, 612004; Thrombocytopenia",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-11-04T12:48:35.630411Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.121",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ANKRD26 were changed from 188000 Thrombocytopenia 2 to Thrombocytopenia 2, 188000",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-09-23T10:29:43.929321Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.120",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from R91 to R91; R258",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-08-22T13:14:41.575709Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.119",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from to R91",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-22T14:57:22.968470Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.118",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: TP53 as Red List (low evidence)",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:57:22.965429Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.118",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is associated with breast cancer rather than cytopenia",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:57:22.947385Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.118",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: tp53 has been classified as Red List (Low Evidence).",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:56:13.178875Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.117",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: STIM1 as Red List (low evidence)",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:56:13.176109Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.117",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH as being Green on the Bleeding and Platelet disorders panel but should be Red on this panel",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:56:13.155439Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.117",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: stim1 has been classified as Red List (Low Evidence).",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:55:24.448132Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.116",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: SMARCAL1 as Red List (low evidence)",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:55:24.443992Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.116",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH as syndromic",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:55:24.426697Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.116",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: smarcal1 has been classified as Red List (Low Evidence).",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:54:54.741736Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.115",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: SLC37A4 as Red List (low evidence)",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:54:54.739269Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.115",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH - other discipline (IEM-GSD) so should be Red on this panel",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:54:54.714823Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.115",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: slc37a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:25:58.357991Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.114",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RUNX1 as Red List (low evidence)",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:25:58.354341Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.114",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is rated Green on the R90 Bleeding and platelet disorders panel and AML panel but should be Red for R91 Cytopenia - NOT Fanconi anaemia panel",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:25:58.325725Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.114",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: runx1 has been classified as Red List (Low Evidence).",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:25:06.211840Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.113",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RPS27 as Red List (low evidence)",
"entity_name": "RPS27",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:25:06.209157Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.113",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is rated Green on the R92 Rare anaemia panel but should be Red for R91 Cytopenia - NOT Fanconi anaemia panel",
"entity_name": "RPS27",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:25:06.176860Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.113",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rps27 has been classified as Red List (Low Evidence).",
"entity_name": "RPS27",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:23:32.017094Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.112",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "RPS27",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:22:46.495821Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.112",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red.; to: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is rated Green on the R90 Bleeding and platelet disorders panel but should be Red for R91 Cytopenia - NOT Fanconi anaemia panel",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:22:00.164211Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.112",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red.; to: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is rated Green on the R90 Bleeding and platelet disorders panel but should be Red for R91 Cytopenia - NOT Fanconi anaemia panel",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:20:42.980856Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.112",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: NBEAL2 as Red List (low evidence)",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:20:42.975537Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.112",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red.",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:20:42.750048Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.112",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: nbeal2 has been classified as Red List (Low Evidence).",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:20:16.320725Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.111",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: MYH9 as Red List (low evidence)",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:20:16.318126Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.111",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red.",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:20:16.298903Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.111",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: myh9 has been classified as Red List (Low Evidence).",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:13:36.718484Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.110",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: LIG4 as Red List (low evidence)",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:13:36.715777Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.110",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. YNEGLH noted it was syndromic.",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:13:36.698142Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.110",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: lig4 has been classified as Red List (Low Evidence).",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:11:54.561599Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.109",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: GP1BA as Red List (low evidence)",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:11:54.557746Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.109",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is rated Green on the R90 Bleeding and platelet disorders panel but should be red for R91 Cytopenia - NOT Fanconi anaemia panel",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:11:54.538869Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.109",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: gp1ba has been classified as Red List (Low Evidence).",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:09:17.163482Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.108",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: DDX41 as Red List (low evidence)",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:09:17.160634Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.108",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. YNEGLH noted this is a susceptibility gene.",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:09:17.140673Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.108",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ddx41 has been classified as Red List (Low Evidence).",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:04:06.174050Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.107",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: USB1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:03:32.470610Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.106",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:02:37.387587Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.105",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:01:57.891265Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.104",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADA2 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:01:25.970443Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.103",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: ADA2 as Green List (high evidence)",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:01:25.967866Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.103",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:01:25.951973Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.103",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ada2 has been classified as Green List (High Evidence).",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:00:55.171759Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.102",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RPS7 as Green List (high evidence)",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:00:55.169097Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.102",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2019-07-22T14:00:55.147435Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.102",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rps7 has been classified as Green List (High Evidence).",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:58:15.622144Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.101",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RPS27 as Green List (high evidence)",
"entity_name": "RPS27",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:58:15.619465Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.101",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "RPS27",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:58:15.600341Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.101",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rps27 has been classified as Green List (High Evidence).",
"entity_name": "RPS27",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:56:52.382874Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.100",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RPS26 as Green List (high evidence)",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:56:52.380529Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.100",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:56:52.363414Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.100",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rps26 has been classified as Green List (High Evidence).",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:55:37.294999Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.99",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RPS24 as Green List (high evidence)",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:55:37.292497Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.99",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:55:37.277690Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.99",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rps24 has been classified as Green List (High Evidence).",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:54:40.329683Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.98",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RPS19 as Green List (high evidence)",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:54:40.326863Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.98",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:54:40.308371Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.98",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rps19 has been classified as Green List (High Evidence).",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:53:55.529850Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.97",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RPS17 as Green List (high evidence)",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:53:55.527030Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.97",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:53:55.510023Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.97",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rps17 has been classified as Green List (High Evidence).",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:53:34.985030Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.96",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RPS10 as Green List (high evidence)",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:53:34.982143Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.96",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:53:34.964270Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.96",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rps10 has been classified as Green List (High Evidence).",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:52:35.228502Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.95",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RPL9 as Green List (high evidence)",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:52:35.225674Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.95",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:52:35.206335Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.95",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rpl9 has been classified as Green List (High Evidence).",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:51:49.230206Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.94",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RPL5 as Green List (high evidence)",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:51:49.227618Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.94",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:51:49.207632Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.94",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rpl5 has been classified as Green List (High Evidence).",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:51:11.854054Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.93",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RPL35A as Green List (high evidence)",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:51:11.851276Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.93",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:51:11.832594Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.93",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rpl35a has been classified as Green List (High Evidence).",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:50:12.633261Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.92",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RPL31 as Green List (high evidence)",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:50:12.630245Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.92",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:50:12.609823Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.92",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rpl31 has been classified as Green List (High Evidence).",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:49:51.304301Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.91",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RPS29 as Green List (high evidence)",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:49:51.300633Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.91",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:49:51.275537Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.91",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rps29 has been classified as Green List (High Evidence).",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:45:38.044186Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.90",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RPL27 as Green List (high evidence)",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:45:38.041259Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.90",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:45:38.021013Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.90",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rpl27 has been classified as Green List (High Evidence).",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:42:02.298234Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.89",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RPL26 as Green List (high evidence)",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:42:02.295409Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.89",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:42:02.279338Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.89",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rpl26 has been classified as Green List (High Evidence).",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:41:32.350748Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.88",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RPL15 as Green List (high evidence)",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:41:32.346043Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.88",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:41:32.313297Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.88",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rpl15 has been classified as Green List (High Evidence).",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:40:45.262006Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.87",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RPL11 as Green List (high evidence)",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:40:45.259147Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.87",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:40:45.236022Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.87",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rpl11 has been classified as Green List (High Evidence).",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:31:24.197186Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.86",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: WIPF1 as Green List (high evidence)",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:31:24.194439Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.86",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:31:24.171914Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.86",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: wipf1 has been classified as Green List (High Evidence).",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:30:12.124792Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.85",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: KLF1 as Green List (high evidence)",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:30:12.122105Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.85",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:30:12.103343Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.85",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: klf1 has been classified as Green List (High Evidence).",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:29:56.336217Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.84",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: KIF23 as Green List (high evidence)",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:29:56.332898Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.84",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:29:56.306138Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.84",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: kif23 has been classified as Green List (High Evidence).",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:28:06.544006Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.83",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RMRP as Green List (high evidence)",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:28:06.540019Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.83",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:28:06.524583Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.83",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rmrp has been classified as Green List (High Evidence).",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:27:42.151852Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.82",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: ETV6 as Green List (high evidence)",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:27:42.148318Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.82",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:27:42.131840Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.82",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: etv6 has been classified as Green List (High Evidence).",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:26:15.193095Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.81",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: ANKRD26 as Green List (high evidence)",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:26:15.190677Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.81",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:26:15.174851Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.81",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ankrd26 has been classified as Green List (High Evidence).",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:25:55.435012Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.80",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: CYCS as Green List (high evidence)",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:25:55.431722Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.80",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:25:55.398958Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.80",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: cycs has been classified as Green List (High Evidence).",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:24:56.664152Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.79",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: MPL as Green List (high evidence)",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:24:56.660715Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.79",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:24:56.645147Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.79",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: mpl has been classified as Green List (High Evidence).",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:24:15.709547Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.78",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: MECOM as Green List (high evidence)",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:24:15.707015Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.78",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:24:15.690766Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.78",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: mecom has been classified as Green List (High Evidence).",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:22:30.550366Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that there is enough evidence to rate this gene Green.; to: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:22:09.467781Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that there is enough evidence to rate this gene Green.; to: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:21:28.995460Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: PARN as Green List (high evidence)",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:21:28.992182Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that there is enough evidence to rate this gene Green.",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:21:28.972066Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: parn has been classified as Green List (High Evidence).",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:20:41.302302Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: ACD as Green List (high evidence)",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:20:41.299966Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that there is enough evidence to rate this gene Green.",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2019-07-22T13:20:41.280523Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: acd has been classified as Green List (High Evidence).",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:49:43.644388Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: Discrepant reviews for NOP10. To be discussed at July workshop to agree rating\r\n\r\nComment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.; to: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.\r\n\r\nDiscrepant reviews for NOP10. To be discussed at July workshop to agree rating\r\n",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:49:31.535369Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.; to: Discrepant reviews for NOP10. To be discussed at July workshop to agree rating\r\n\r\nComment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:49:26.011106Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:49:23.943317Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: Discrepant reviews for NOP10. To be discussed at July workshop to agree rating; to: Discrepant reviews for NOP10. To be discussed at July workshop to agree rating",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:49:02.564606Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NOP10: Discrepant reviews for NOP10. To be discussed at July workshop to agree rating",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:48:34.976822Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: NOP10 as Amber List (moderate evidence)",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:48:34.974411Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:48:34.955494Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: nop10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:48:11.415979Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: NHP2 as Amber List (moderate evidence)",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:48:11.413521Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:48:11.399786Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: nhp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:47:53.460415Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.73",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NHP2: Discrepant reviews for NHP2. To be discussed at July workshop to agree rating",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:47:12.072247Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.73",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: SRP72 as Amber List (moderate evidence)",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:47:12.068941Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.73",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:47:12.050036Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.73",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: srp72 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:46:45.046463Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SRP72: Discrepant reviews for SRP72. To be discussed at July workshop to agree rating",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:45:22.880121Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: WRAP53 as Green List (high evidence)",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:45:22.876374Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:45:22.850719Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: wrap53 has been classified as Green List (High Evidence).",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:44:50.484793Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.71",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: WRAP53: Discrepant reviews for WRAP53. Rated as Amber WWMGLH - Green rating LSGLH, YNEGLH, NWGLH. To be discussed at July workshop to agree rating",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:43:50.185000Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.71",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: USB1 as Green List (high evidence)",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:43:50.182058Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.71",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:43:50.154800Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.71",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: usb1 has been classified as Green List (High Evidence).",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:43:31.737826Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: USB1: Discrepant reviews for USB. Rated as Amber WWMGLH - Green rating LSGLH, YNEGLH, NWGLH. To be discussed at July workshop to agree rating",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:42:28.289372Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: TINF2 as Green List (high evidence)",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:42:28.287093Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:42:28.265892Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: tinf2 has been classified as Green List (High Evidence).",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:41:24.315184Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.69",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TINF2: Discrepant reviews forTINF2. Rated as Amber WWMGLH - Green rating LSGLH, YNEGLH, NWGLH. To be discussed at July workshop to agree rating.",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:39:53.607723Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.69",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: TERC as Green List (high evidence)",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:39:53.604651Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.69",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:39:53.586599Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.69",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: terc has been classified as Green List (High Evidence).",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:39:08.851921Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.68",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: RBM8A: Discrepant reviews for TERC. Rated as Amber WWMGLH - Green rating LSGLH, YNEGLH, NWGLH. To be discussed at July workshop to agree rating; to: Discrepant reviews for TERC. Rated as Amber WWMGLH - Green rating LSGLH, YNEGLH, NWGLH. To be discussed at July workshop to agree rating",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:38:53.926240Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.68",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TERC: RBM8A: Discrepant reviews for TERC. Rated as Amber WWMGLH - Green rating LSGLH, YNEGLH, NWGLH. To be discussed at July workshop to agree rating",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:35:46.172254Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.68",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: JAGN1 as Green List (high evidence)",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:35:46.168439Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.68",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:35:46.149444Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.68",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: jagn1 has been classified as Green List (High Evidence).",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:26:49.418515Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.67",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RBM8A as Amber List (moderate evidence)",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:26:49.416199Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.67",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:26:49.395583Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.67",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rbm8a has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:25:38.468242Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.66",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RBM8A: Discrepant reviews for RBM8A. Rated as Green by LSGLH, YNEGLH - Amber rating by NWGLH, no review WWMGLH. To be discussed at July workshop to agree rating",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:00:50.896952Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.66",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: Discrepant reviews for NBN:Rated as Green by WWMGLH, NWGLH - Amber rating by YNEGLH, LSGLH. To be discussed at July workshop to agree rating.; to: Discrepant reviews for NBN:Rated as Green by WWMGLH, NWGLH - Amber rating by YNEGLH, LSGLH. To be discussed at July workshop to agree rating. As noted by LSGLH -not sure if this should be in Cytopenia panel – would this not be picked up on chromosome breakage? Then better to go for the single gene test R259.",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:00:37.430547Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.66",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: NBN as Amber List (moderate evidence)",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:00:37.428075Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.66",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2019-07-22T12:00:37.406127Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.66",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: nbn has been classified as Amber List (Moderate Evidence).",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:58:50.979793Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.65",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NBN: Discrepant reviews for NBN:Rated as Green by WWMGLH, NWGLH - Amber rating by YNEGLH, LSGLH. To be discussed at July workshop to agree rating.",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:56:39.604012Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.65",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: JAGN1: Discrepant reviews for JAGN1 : 3 GLH GREEN, 1 GLH AMBER. To be discussed at July workshop to agree rating.",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:55:15.022929Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.65",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: TERT as Green List (high evidence)",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:55:15.019769Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.65",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:55:14.996429Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.65",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: tert has been classified as Green List (High Evidence).",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:55:00.757602Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.64",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TERT: Discrepant reviews for TERT : 3 GLH GREEN, 1 GLH AMBER. To be discussed at July workshop to agree rating.",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:53:44.012488Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.64",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: GATA2 as Green List (high evidence)",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:53:44.008769Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.64",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:53:43.983639Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.64",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: gata2 has been classified as Green List (High Evidence).",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:53:21.444584Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.63",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GATA2: Discrepant reviews for GATA2 : 3 GLH GREEN, 1 GLH AMBER. To be discussed at July workshop to agree rating.",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:51:27.033736Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.63",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: GATA1 as Green List (high evidence)",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:51:27.030013Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.63",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:51:27.001432Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.63",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: gata1 has been classified as Green List (High Evidence).",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:51:01.284196Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GATA1: Discrepant reviews for GATA1 : 3 GLH GREEN, 1 GLH AMBER. To be discussed at July workshop to agree rating.",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:49:12.373919Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: FYB1 as Green List (high evidence)",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:49:12.367564Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:49:12.340551Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: fyb1 has been classified as Green List (High Evidence).",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:48:52.548361Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FYB1: Discrepant reviews for FYB1. Rated as Green by YNEGLH, LSGLH - Amber rating by NWGLH, no review by WWMGLH. To be discussed at July workshop to agree rating.",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:46:09.504776Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: Discrepant reviews for EFL1: Rated as Green by LSGLH, YNEGLH- Amber rating NWGLH, no review by WWMGLH. To be discussed at July workshop to agree rating.; to: Discrepant reviews for EFL1: Rated as Green by LSGLH, YNEGLH- Amber rating NWGLH, no review by WWMGLH. To be discussed at July workshop to agree rating.",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:44:02.973973Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: EFL1 as Amber List (moderate evidence)",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:44:02.970502Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:44:02.947203Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: efl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:43:09.628361Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.60",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: EFL1: Discrepant reviews for EFL1: Rated as Green by LSGLH, YNEGLH- Amber rating NWGLH, no review by WWMGLH. To be discussed at July workshop to agree rating.",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:39:47.451359Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.60",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: CXCR4 as Green List (high evidence)",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:39:47.448527Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.60",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:39:47.428798Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.60",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: cxcr4 has been classified as Green List (High Evidence).",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:39:31.650673Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.59",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CXCR4: Discrepant reviews for CXCR4 : 3 GLH GREEN, 1 GLH AMBER. To be discussed at July workshop to agree rating.",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:38:14.376043Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.59",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: CTC1 as Green List (high evidence)",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:38:14.373131Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.59",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:38:14.349051Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.59",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ctc1 has been classified as Green List (High Evidence).",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-07-22T11:37:42.500523Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.58",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CTC1: Discrepant reviews for CTC1 : 3 GLH GREEN, 1 GLH AMBER. To be discussed at July workshop to agree rating.",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-05-29T11:39:38.992839Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: TUBB1 as Red List (low evidence)",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-05-29T11:39:38.987141Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: tubb1 has been classified as Red List (Low Evidence).",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-05-29T11:38:03.702802Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: TUBB1 as Amber List (moderate evidence)",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-05-29T11:38:03.695861Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: tubb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-05-29T11:35:53.680675Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: HOXA11 as Amber List (moderate evidence)",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-05-29T11:35:53.673470Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: hoxa11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-05-04T21:25:02.082241Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RPS29.",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2019-05-04T21:25:01.982495Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RPS26.",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2019-05-04T21:25:01.888586Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RPS24.",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2019-05-04T21:25:01.793095Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RPS19.",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2019-05-04T21:25:01.701927Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RPS7.",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2019-05-04T21:25:01.593831Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RPL35A.",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2019-05-04T21:25:01.487797Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RPL27.",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2019-05-04T21:25:01.397290Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RPL26.",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2019-05-04T21:25:01.295508Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RPL15.",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2019-05-04T21:25:01.194520Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RPL11.",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-05-04T21:25:01.105138Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RPS10.",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2019-05-04T21:25:01.013978Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RPL9.",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2019-05-04T21:25:00.908512Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RPL5.",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2019-05-04T21:25:00.815928Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to GATA1.",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-05-04T21:25:00.720938Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to CYCS.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-05-04T21:25:00.629258Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RPS17.",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2019-05-04T21:25:00.537408Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RPL31.",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2019-05-04T21:25:00.021785Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to FYB1.",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.678086Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RPS29: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.666015Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RPS26: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.651331Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RPS24: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.635964Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RPS19: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.622672Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RPS7: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.609937Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RPL35A: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.597581Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RPL27: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.584591Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RPL26: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.572151Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RPL15: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.559737Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RPL11: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.547181Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RPS10: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.534466Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RPL9: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.521578Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RPL5: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.508665Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GATA1: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.495508Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CYCS: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.483170Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RPS17: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.470624Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RPL31: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.457734Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SAMD9L: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.445279Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SAMD9: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.432087Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GFI1: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:55:51.417591Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FYB1: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.762207Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: RPS29: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.746985Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.733160Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.717079Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.704759Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.691422Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.678997Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: RPL27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.666674Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.653138Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.641425Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.629827Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.614210Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: RPL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.601841Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.590454Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.574590Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.559592Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.545634Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: RPL31: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.532420Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "edited their review of gene: SAMD9L: Changed rating: GREEN",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.522103Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "edited their review of gene: SAMD9: Changed rating: GREEN",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.508090Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "edited their review of gene: GFI1: Changed rating: GREEN",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:54:21.496121Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.51",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: FYB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:38:41.970676Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.50",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: RPL26 were changed from ?Diamond-Blackfan anemia 11,614900 to ?Diamond-Blackfan anemia 11, 614900",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:34:40.008417Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.49",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: RPL31 were changed from to Diamond-Blackfan anaemia",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:30:57.094571Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.48",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: RPS17 were set to 22045982; 19953637; 17647292; 19061985",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:29:23.641856Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.47",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CYCS were set to ",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:28:34.053351Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.46",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CYCS were changed from 612004 Thrombocytopenia 4 to 612004 Thrombocytopenia 4; Thrombocytopenia",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:25:23.941788Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.45",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: GATA1 were set to 22706301; 24952648; 24766296; 10700180; 24453067",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:24:47.429396Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.44",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: GATA1 were changed from 314050 Thrombocytopenia with beta-thalassemia, X-linked; Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Myelodysplastic syndrome (MDS), Paediatric to 314050 Thrombocytopenia with beta-thalassemia, X-linked; Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Myelodysplastic syndrome (MDS), Paediatric; Anaemia; thrombocytopenia",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:23:34.681540Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.43",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: RPL5 were changed from Diamond-Blackfan anemia 6, 612561; DIAMOND-BLACKFAN ANEMIA 6; Diamond_Blackfan Anemia 6; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia to Diamond-Blackfan anemia 6, 612561; DIAMOND-BLACKFAN ANEMIA 6; Diamond Blackfan Anemia 6; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:21:17.185637Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: RPL9 were set to 23718193; 20116044",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:18:59.931029Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: RPL11 were set to 19191325; 19061985",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:14:59.227880Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.40",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: RPL15 were set to 23812780; 19438500",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:09:24.053997Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.39",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: RPL35A were changed from Diamond-Blackfan anemia 5, 612528; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 5; Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 5; Diamond Blackfan anemia to Diamond-Blackfan anemia 5, 612528; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 5; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan Anemia 5; Diamond Blackfan anemia",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:06:22.420269Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.38",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: RPS24 were set to 17186470; 19689926; 19773262; 25946618; 8647458; 2210388",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:02:57.754496Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.37",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: RPS26 were set to 24675553; 25946618; 24942156; 20116044",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:02:12.523869Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.36",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: RPS26 were changed from Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 10; Diamond-Blackfan anemia 10; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 10, 613309; Diamond Blackfan anemia to Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan anemia 10; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 10, 613309; Diamond Blackfan anemia",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2019-05-04T20:00:06.606050Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.35",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: RPS29 were set to ",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2019-05-04T19:59:22.323112Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: RPS29 were changed from Diamond-Blackfan anemia 13, 615909 to Diamond-Blackfan anemia 13, 615909; Diamond-Blackfan anaemia",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2019-05-04T19:59:08.837579Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: RPS29 were changed from Diamond-Blackfan anemia 13 615909 to Diamond-Blackfan anemia 13, 615909",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2019-03-20T12:30:32.238136Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.32",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: PARN were changed from 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6,; 616353 Dyskeratosis congenita, autosomal recessive 6 to 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6; 616353 Dyskeratosis congenita, autosomal recessive 6",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-03-08T13:46:54.921197Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "edited their review of gene: PARN: Changed rating: GREEN; Changed phenotypes: 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616353 Dyskeratosis congenita, autosomal recessive 6",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.667195Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: WRAP53: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WRAP53; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Inherited Bone Marrow Failure Syndromes;Dyskeratosis congenita;Dyskeratosis congenita, autosomal recessive 3, 613988;Dyskeratosis Congenita, Recessive;Dyskeratosis Congenita, Autosomal Recessive, 3; PMID(s): none submitted",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.652675Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: WIPF1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WIPF1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Wiskott-Aldrich syndrome like, WIP deficiency;WIP deficiency;?Wiskott-Aldrich syndrome 2 614493;Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent; PMID(s): none submitted",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.639115Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: WAS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Neutropenia, severe congenital, X-linked 300299;Thrombocytopenia, X-linked 313900;Thrombocytopenia, X-linked, intermittent 313900;Wiskott-Aldrich syndrome 301000; PMID(s): none submitted",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.625861Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VPS45: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS45; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Neutropenia, severe congenital, 5, autosomal recessive, 615285;Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome;VPS45 deficiency;Severe congenital neutropenia; PMID(s): none submitted",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.611488Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: USB1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: USB1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Poikiloderma with neutropenia 604173;Dyskeratosis congenita; PMID(s): none submitted",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.594360Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TINF2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TINF2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Inherited Bone Marrow Failure Syndromes;Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Revesz Syndrome;Dyskeratosis congenita, autosomal dominant 3, 613990; Revesz syndrome, 268130;Revesz Syndrome;Dyskeratosis congenita;Dyskeratosis Congenita, Dominant;Dyskeratosis Congenita, Autosomal Dominant, 3;DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; PMID(s): none submitted",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.580774Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: THPO: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THPO; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 187950 Thrombocythemia 1; PMID(s): 28466964; 24085763; 28559357; 29191945 ",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.566813Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TERT: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERT; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Aplastic Anemia;Coronary artery disease;{Dyskeratosis congenita, autosomal recessive 4}, 613989;{Dyskeratosis congenita, autosomal dominant 2}, 613989;{Pulmonary fibrosis, telomere-related, 1}, 614742;{Leukemia, acute myeloid}, 601626;{Melanoma, cutaneous malignant, 9}, 615134; PMID(s): none submitted",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.553372Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TERC: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Inherited Bone Marrow Failure Syndromes;Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2;Dyskeratosis congenita;Dyskeratosis Congenita, Autosomal Dominant, 1; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1;DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; PMID(s): none submitted",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.539561Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TAZ: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TAZ; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Barth syndrome 302060; PMID(s): none submitted",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.526325Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SRP72: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRP72; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Bone Marrow Failure, Familial;Bone marrow failure, familial, 614675;Familial Bone Marrow Failure;Familial MDS (Myelodysplastic syndromes);Bone Marrow Failure, Familial; PMID(s): 22541560; 29146883",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.507690Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SBDS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SBDS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Shwachman-Diamond syndrome 260400; PMID(s): none submitted",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.493235Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SAMD9L: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SAMD9L; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Ataxia-pancytopenia syndrome 159550; PMID(s): none submitted",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.479899Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SAMD9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SAMD9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: MIRAGE syndrome, 617053; PMID(s): none submitted",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.466035Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RTEL1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RTEL1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Dyskeratosis congenita, autosomal recessive 5 615190;Dyskeratosis congenita, autosomal dominant 4 615190; PMID(s): none submitted",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.450757Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RMRP: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RMRP; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Severe congenital neutropenia; Cartilage-hair hypoplasia; PMID(s): none submitted",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.437162Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RBM8A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; 615190 DC type 4 and 5; PMID(s): 22366785; 28128450; 24220582; 17236129",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.421582Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PARN: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PARN; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6; PMID(s): 25893599; 25848748; 26342108",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.401741Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NOP10: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NOP10; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Dyskeratosis congenita, autosomal recessive 1 224230; PMID(s): none submitted",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.387311Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NHP2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NHP2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Dyskeratosis congenita, autosomal recessive 2 613987; PMID(s): none submitted",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.373237Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MPL: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPL; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; PMID(s): 10077649; 18024606",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.358504Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MPIG6B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPIG6B; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 61744 ?Thrombocytopenia, anemia, and myelofibrosis1; PMID(s): none submitted",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.344197Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MECOM: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MECOM; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; PMID(s): 29540340",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.329388Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: LAT: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LAT; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Immunodeficiency 52, 617514; PMID(s): none submitted",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.315146Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KLF1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLF1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type IV, 613673; PMID(s): none submitted",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.301925Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KIF23: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KIF23; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Enzyme Disorder;Congenital dyserythropoietic anemia type III;CDA III;Congenital dyserythropoietic anemia (CDA); PMID(s): none submitted",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.286586Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: JAGN1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: JAGN1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616022 Neutropenia, severe congenital, 6, autosomal recessive; PMID(s): 11101832",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.272458Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HAX1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HAX1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia;Severe congenital neutropenic;Neutropenia, Severe Congenital, 3 Autosomal Dominant;Neutropenia, severe congenital 3, autosomal recessive, 610738; PMID(s): none submitted",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.259154Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GFI1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia;Severe congenital neutropenic;Neutropenia, Severe Congenital, 2 Autosomal Dominant; Neutropenia, Nonimmune Chronic Idiopathic, Of Adults;Neutropenia, severe congenital 2, autosomal dominant, 613107; PMID(s): none submitted",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.245072Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GATA2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies;Familial MDS (Myelodysplastic syndromes);Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172;Emberger syndrome, 614038 (includes pancytopenia);{Myelodysplastic syndrome, susceptibility to}, 614286;{Leukemia, acute myeloid, susceptibility to}, 601626;Primary Lymphedema with Myelodysplasia;Immunodeficiency 21;Leukemia, Acute Myeloid;Lymphedema, Primary, With Myelodysplasia;Myelodysplastic Syndrome;Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency;Congenital dyserythropoietic anemia (CDA); PMID(s): none submitted",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.231698Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GATA1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Myelodysplastic syndrome (MDS), Paediatric;Diamond Blackfan Anaemia;Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367; PMID(s): none submitted",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.217558Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: G6PC3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: G6PC3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia;Severe congenital neutropenic;Neutropenia, Severe Congenital, 4 Autosomal Dominant;Neutropenia, severe congenital 4, autosomal recessive, 612541;Dursun syndrome, 612541;Severe Congenital Neutropenia; PMID(s): none submitted",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.204563Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FYB1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FYB1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 273900 Thrombocytopenia 3; PMID(s): 25876182; 25516138",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.191629Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ERCC6L2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ERCC6L2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Bone marrow failure syndrome 2, 615715; PMID(s): none submitted",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.177633Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ELANE: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ELANE; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Neutropenia, cyclic 162800;Neutropenia, severe congenital 1, autosomal dominant 202700; PMID(s): none submitted",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.163962Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: EFL1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EFL1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617941 Shwachman-Diamond syndrome 2; PMID(s): 29970384, 28331068",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.149462Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DNAJC21: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DNAJC21; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Pancytopaenia;Bone Marrow Failure;Bone marrow failure syndrome 3, 617052; PMID(s): none submitted",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.135129Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DKC1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DKC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Dyskeratosis congenita;Dyskeratosis congenita, X-linked, 305000; PMID(s): none submitted",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.121561Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CXCR4: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CXCR4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: WHIM syndrome, 193670;Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated;Severe congenital neutropenia; PMID(s): none submitted",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.105836Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CTC1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CTC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Inherited Bone Marrow Failure Syndromes;Dyskeratosis congenita;Dyskeratosis Congenita, Recessive;Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; PMID(s): none submitted",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.091688Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CSF3R: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CSF3R; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Severe congenital neutropenia;Neutropenia, severe congenital, 7, autosomal recessive 617014; PMID(s): none submitted",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:57:01.074515Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ACD: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACD; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616553 ?Dyskeratosis congenita 6 and 7; PMID(s): 25205116; 25233904",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:30.434495Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Dyskeratosis congenita, Dyskeratosis congenita, autosomal recessive 3, 613988, Dyskeratosis Congenita, Recessive, Dyskeratosis Congenita, Autosomal Recessive, 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:30.418580Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: WIPF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wiskott-Aldrich syndrome like, WIP deficiency, WIP deficiency, ?Wiskott-Aldrich syndrome 2, 614493, Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:30.402275Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neutropenia, severe congenital, X-linked, 300299, Thrombocytopenia, X-linked 313900, Thrombocytopenia, X-linked, intermittent 313900, Wiskott-Aldrich syndrome, 301000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:30.372205Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neutropenia, severe congenital, 5, autosomal recessive, 615285, Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome, VPS45 deficiency, Severe congenital neutropenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:30.355927Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Poikiloderma with neutropenia, 604173, Dyskeratosis congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:30.340315Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia, Revesz Syndrome, Dyskeratosis congenita, autosomal dominant 3, 613990, Revesz syndrome, 268130, Revesz Syndrome, Dyskeratosis congenita, Dyskeratosis Congenita, Dominant, Dyskeratosis Congenita, Autosomal Dominant, 3, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:30.324185Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Thrombocythemia 1, 187950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:30.308864Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Aplastic Anemia, Coronary artery disease, {Dyskeratosis congenita, autosomal recessive 4}, 613989, {Dyskeratosis congenita, autosomal dominant 2}, 613989, {Pulmonary fibrosis, telomere-related, 1}, 614742, {Leukemia, acute myeloid}, 601626, {Melanoma, cutaneous malignant, 9}, 615134; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:30.291999Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia, Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2, Dyskeratosis congenita, Dyskeratosis Congenita, Autosomal Dominant, 1, Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:30.073948Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Barth syndrome, 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:30.058391Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia, Bone Marrow Failure, Familial, Bone marrow failure, familial, 614675, Familial Bone Marrow Failure, Familial MDS (Myelodysplastic syndromes), Bone Marrow Failure, Familial; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:30.042714Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Shwachman-Diamond syndrome, 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:30.026685Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-pancytopenia syndrome, 159550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:30.011261Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MIRAGE syndrome, 617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.996466Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 5, 615190, Dyskeratosis congenita, autosomal dominant 4, 615190; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.980034Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Severe congenital neutropenia, Cartilage-hair hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.958840Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 615190 DC type 4 and 5; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.942904Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616353 Dyskeratosis congenita, autosomal recessive 6; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.926931Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: NOP10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 1, 224230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.911691Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, 613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.896265Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Thrombocytopenia, congenital amegakaryocytic, 604498; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.880689Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: MPIG6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Thrombocytopenia, anemia, and myelofibrosis1, 617441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.864460Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.848571Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: LAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Immunodeficiency 52, 617514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.832097Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Dyserythropoietic Anemia, Dyserythropoietic anemia, congenital, type IV, 613673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.816154Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: KIF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Congenital dyserythropoietic anemia type III, CDA III, Congenital dyserythropoietic anemia (CDA); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.801130Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: JAGN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616022 Neutropenia, severe congenital, 6, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.784799Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia, Severe congenital neutropenic, Neutropenia, Severe Congenital, 3 Autosomal Dominant, Neutropenia, severe congenital 3, autosomal recessive, 610738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.768061Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia, Severe congenital neutropenic, Neutropenia, Severe Congenital, 2 Autosomal Dominant, Neutropenia, Nonimmune Chronic Idiopathic, Of Adults, Neutropenia, severe congenital 2, autosomal dominant, 613107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.752083Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies, Familial MDS (Myelodysplastic syndromes), Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172, Emberger syndrome, 614038 (includes pancytopenia), {Myelodysplastic syndrome, susceptibility to}, 614286, {Leukemia, acute myeloid, susceptibility to}, 601626, Primary Lymphedema with Myelodysplasia, Immunodeficiency 21, Leukemia, Acute Myeloid, Lymphedema, Primary, With Myelodysplasia, Myelodysplastic Syndrome, Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency, Congenital dyserythropoietic anemia (CDA); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.735754Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myelodysplastic syndrome (MDS), Paediatric, Diamond Blackfan Anaemia, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.719137Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia, Severe congenital neutropenic, Neutropenia, Severe Congenital, 4 Autosomal Dominant, Neutropenia, severe congenital 4, autosomal recessive, 612541, Dursun syndrome, 612541, Severe Congenital Neutropenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.703987Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: FYB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Thrombocytopenia 3, 273900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.688614Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bone marrow failure syndrome 2, 615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.672696Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neutropenia, cyclic, 162800, Neutropenia, severe congenital 1, autosomal dominant, 202700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.641473Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: EFL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Shwachman-Diamond syndrome 2, 617941; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.625848Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pancytopaenia, Bone Marrow Failure, Bone marrow failure syndrome 3, 617052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.605192Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, Dyskeratosis congenita, X-linked, 305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.588910Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: WHIM syndrome, 193670, Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated, Severe congenital neutropenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.572175Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Dyskeratosis congenita, Dyskeratosis Congenita, Recessive, Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.555749Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Severe congenital neutropenia, Neutropenia, severe congenital, 7, autosomal recessive, 617014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:55:29.539411Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.30",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616553 ?Dyskeratosis congenita 6 and 7; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:09.670051Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Dyskeratosis Congenita, Autosomal Recessive, 3; Dyskeratosis Congenita, Recessive; Inherited Bone Marrow Failure Syndromes; Dyskeratosis congenita, autosomal recessive 3, 613988; Dyskeratosis congenita for gene: WRAP53",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:09.565739Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes WIP deficiency; Wiskott-Aldrich syndrome like, WIP deficiency; ?Wiskott-Aldrich syndrome 2, 614493; Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent for gene: WIPF1",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:09.470035Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Thrombocytopenia, X-linked, intermittent 313900; Thrombocytopenia, X-linked 313900; Wiskott-Aldrich syndrome, 301000; Neutropenia, severe congenital, X-linked, 300299 for gene: WAS",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:09.367424Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome; Neutropenia, severe congenital, 5, autosomal recessive, 615285; Severe congenital neutropenia; VPS45 deficiency for gene: VPS45",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:09.266447Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Poikiloderma with neutropenia, 604173; Dyskeratosis congenita for gene: USB1",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:09.169498Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Revesz Syndrome; Dyskeratosis Congenita, Autosomal Dominant, 3; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; Dyskeratosis congenita; Dyskeratosis congenita, autosomal dominant 3, 613990; Revesz syndrome, 268130; Inherited Bone Marrow Failure Syndromes; Dyskeratosis Congenita, Dominant for gene: TINF2",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:09.075626Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Thrombocythemia 1, 187950 for gene: THPO\nPublications for gene THPO were changed from 19553636; 10583217 to 24085763; 28466964; 28559357; 29191945",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:08.982353Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes {Pulmonary fibrosis, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal dominant 2}, 613989; Coronary artery disease; {Melanoma, cutaneous malignant, 9}, 615134; Aplastic Anemia; {Leukemia, acute myeloid}, 601626; {Dyskeratosis congenita, autosomal recessive 4}, 613989 for gene: TERT",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:08.888719Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; Dyskeratosis congenita; Dyskeratosis Congenita, Autosomal Dominant, 1; Inherited Bone Marrow Failure Syndromes for gene: TERC",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:08.796527Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Barth syndrome, 302060 for gene: TAZ",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:08.689272Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Familial Bone Marrow Failure; Bone Marrow Failure, Familial; Bone marrow failure, familial, 614675; Familial MDS (Myelodysplastic syndromes) for gene: SRP72\nPublications for gene SRP72 were changed from 22541560 to 22541560; 29146883",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:08.594005Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Shwachman-Diamond syndrome, 260400 for gene: SBDS",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:08.492865Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Ataxia-pancytopenia syndrome, 159550 for gene: SAMD9L",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:08.394935Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes MIRAGE syndrome, 617053 for gene: SAMD9",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:08.284813Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Dyskeratosis congenita, autosomal recessive 5, 615190; Dyskeratosis congenita, autosomal dominant 4, 615190 for gene: RTEL1",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:08.188674Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Cartilage-hair hypoplasia; Severe congenital neutropenia for gene: RMRP",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:08.084673Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; 615190 DC type 4 and 5 for gene: RBM8A\nPublications for gene RBM8A were changed from 22366785; 17236129 to 22366785; 24220582; 28128450; 17236129",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:07.993292Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6 for gene: PARN",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:07.897870Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230 for gene: NOP10",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:07.798423Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Dyskeratosis congenita, autosomal recessive 2, 613987 for gene: NHP2",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:07.696773Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498 for gene: MPL\nPublications for gene MPL were changed from 11133753; 10077649 to 10077649; 18024606",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:07.591217Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes ?Thrombocytopenia, anemia, and myelofibrosis1, 617441 for gene: MPIG6B",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:07.477867Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 for gene: MECOM\nPublications for gene MECOM were changed from 20091385; 26581901 to 29540340",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:07.370689Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Immunodeficiency 52, 617514 for gene: LAT",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:07.282461Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Dyserythropoietic anemia, congenital, type IV, 613673; Congenital Dyserythropoietic Anemia for gene: KLF1",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:07.191795Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes CDA III; Congenital dyserythropoietic anemia (CDA); Congenital dyserythropoietic anemia type III; Enzyme Disorder for gene: KIF23",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:07.101165Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616022 Neutropenia, severe congenital, 6, autosomal recessive for gene: JAGN1\nPublications for gene JAGN1 were changed from 25129144 to 11101832",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:06.997709Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738; Inherited Bone Marrow Failure Syndromes - Neutropenia; Severe congenital neutropenic; Neutropenia, Severe Congenital, 3 Autosomal Dominant for gene: HAX1",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:06.898875Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Neutropenia, Nonimmune Chronic Idiopathic, Of Adults; Inherited Bone Marrow Failure Syndromes - Neutropenia; Neutropenia, Severe Congenital, 2 Autosomal Dominant; Severe congenital neutropenic; Neutropenia, severe congenital 2, autosomal dominant, 613107 for gene: GFI1",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:06.800825Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Congenital dyserythropoietic anemia (CDA); Myelodysplastic Syndrome; Familial MDS (Myelodysplastic syndromes); Leukemia, Acute Myeloid; {Leukemia, acute myeloid, susceptibility to}, 601626; Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies; {Myelodysplastic syndrome, susceptibility to}, 614286; Primary Lymphedema with Myelodysplasia; Lymphedema, Primary, With Myelodysplasia; Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency; Immunodeficiency 21; Emberger syndrome, 614038 (includes pancytopenia); Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172 for gene: GATA2",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:06.695286Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Myelodysplastic syndrome (MDS), Paediatric for gene: GATA1",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:06.594819Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Dursun syndrome, 612541; Severe congenital neutropenic; Inherited Bone Marrow Failure Syndromes - Neutropenia; Neutropenia, severe congenital 4, autosomal recessive, 612541; Neutropenia, Severe Congenital, 4 Autosomal Dominant; Severe Congenital Neutropenia for gene: G6PC3",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:06.495185Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Thrombocytopenia 3, 273900 for gene: FYB1\nPublications for gene FYB1 were changed from to 25516138; 25876182",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:06.402748Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Bone marrow failure syndrome 2, 615715 for gene: ERCC6L2",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:06.307184Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Neutropenia, severe congenital 1, autosomal dominant, 202700; Neutropenia, cyclic, 162800 for gene: ELANE",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:06.215263Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Shwachman-Diamond syndrome 2, 617941 for gene: EFL1\nPublications for gene EFL1 were changed from 28331068 to 29970384, 28331068",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:06.122912Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Pancytopaenia; Bone Marrow Failure; Bone marrow failure syndrome 3, 617052 for gene: DNAJC21",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:06.029227Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Dyskeratosis congenita, X-linked, 305000; Dyskeratosis congenita for gene: DKC1",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:05.825724Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated; WHIM syndrome, 193670; Severe congenital neutropenia for gene: CXCR4",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:05.731581Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; Dyskeratosis Congenita, Recessive; Inherited Bone Marrow Failure Syndromes; Dyskeratosis congenita for gene: CTC1",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:05.628791Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Neutropenia, severe congenital, 7, autosomal recessive, 617014; Severe congenital neutropenia for gene: CSF3R",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:53:05.532866Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616553 ?Dyskeratosis congenita 6 and 7 for gene: ACD",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:39.386391Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to WRAP53.",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:39.285769Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to WIPF1.",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:39.186340Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to WAS.",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:39.084268Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to VPS45.",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:38.975181Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to USB1.",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:38.866731Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to TINF2.",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:38.770351Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to THPO.",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:38.679678Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to TERT.",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:38.583753Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to TERC.",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:38.484336Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to TAZ.",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:38.390530Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to SRP72.",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:38.294309Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to SBDS.",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:38.195077Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to SAMD9L.",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:38.099913Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to SAMD9.",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:38.002759Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to RTEL1.",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:37.904959Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to RMRP.",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:37.809388Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to RBM8A.",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:37.711185Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to PARN.",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:37.595957Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to NOP10.",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:37.382883Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to NHP2.",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:37.275300Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to MPL.",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:37.167566Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to MPIG6B.",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:37.054673Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to MECOM.",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:36.945764Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to LAT.",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:36.839535Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to KLF1.",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:36.735970Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to KIF23.",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:36.640624Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to JAGN1.",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:36.549359Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to HAX1.",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:36.451563Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to GFI1.",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:36.345864Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to GATA2.",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:36.245868Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to GATA1.",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:36.149820Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to G6PC3.",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:36.049558Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to FYB1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:35.964941Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to ERCC6L2.",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:35.861382Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to ELANE.",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:35.758815Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to EFL1.",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:35.660757Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to DNAJC21.",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:35.550023Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to DKC1.",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:35.438295Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to CXCR4.",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:35.328820Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to CTC1.",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:35.227542Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to CSF3R.",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:44:35.109444Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to ACD.",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:44:15.940357Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: TP53 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:44:06.200263Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: TP53 as Green List (high evidence)",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:44:06.192232Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: tp53 has been classified as Green List (High Evidence).",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:43:27.427052Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYSM1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:43:20.569419Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: MYSM1 as Amber List (moderate evidence)",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:43:20.563805Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: mysm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:42:17.103199Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: FYB1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:42:09.162571Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: FYB1 as Green List (high evidence)",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:42:09.155485Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: fyb1 has been classified as Green List (High Evidence).",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:41:44.740781Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYCS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:41:35.002292Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: CYCS as Green List (high evidence)",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:41:34.995427Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: cycs has been classified as Green List (High Evidence).",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:34.136340Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: WRAP53: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WRAP53; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 300299 Neutropenia, severe congenital, X-linked; PMID(s): none submitted",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:34.118604Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: WAS: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 313900 Thrombocytopenia, X-linked; PMID(s): none submitted",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:34.101931Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VPS45: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS45; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615285 Neutropenia, severe congenital, 5, autosomal recessive; PMID(s): none submitted",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:34.088349Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: USB1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: USB1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604173 Poikiloderma with neutropenia; PMID(s): none submitted",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:34.074665Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TP53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:34.054792Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TINF2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TINF2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613990 Dyskeratosis congenita, autosomal dominant 3; PMID(s): none submitted",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:34.037929Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: THPO: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THPO; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 187950 Thrombocythemia 1; PMID(s): none submitted",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:34.021549Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TERT: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERT; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 614742 {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}; PMID(s): none submitted",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:34.004660Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TERC: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614743 pulmonary fibrosis and/or bone marrow failure; 129550 Dyskeratosis congenita, autosomal dominant 1; PMID(s): none submitted",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.991144Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TAZ: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TAZ; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 302060 Barth syndrome; PMID(s): none submitted",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.977405Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SRP72: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRP72; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614675 Bone marrow failure syndrome 1; PMID(s): none submitted",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.964454Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SBDS: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SBDS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 260400 Shwachman-Diamond syndrome; PMID(s): none submitted",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.948590Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SAMD9L: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SAMD9L; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 159550 Ataxia-pancytopenia syndrome; PMID(s): none submitted",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.935395Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SAMD9: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SAMD9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 617053 MIRAGE syndrome; PMID(s): none submitted",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.922588Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RTEL1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RTEL1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; 615190 DC type 4 and 5; PMID(s): none submitted",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.909378Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RBM8A: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; PMID(s): none submitted",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.896492Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PARN: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PARN; Suggested initial gene rating: not submitted ; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6; PMID(s): none submitted",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.883123Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NBN: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBN; Suggested initial gene rating: not submitted ; Are variants in this gene part of your current diagnostic practice? info not submitted; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 251260 Nijmegen breakage syndrome; PMID(s): none submitted",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.870775Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MYSM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.850653Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MPL: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPL; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; PMID(s): none submitted",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.836602Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MECOM: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MECOM; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; PMID(s): none submitted",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.823533Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: JAGN1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: JAGN1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616022 Neutropenia, severe congenital, 6, autosomal recessive; PMID(s): none submitted",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.810271Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HOXA11: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HOXA11; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; PMID(s): none submitted",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.795528Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HAX1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HAX1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 610738 Neutropenia, severe congenital 3, autosomal recessive; PMID(s): none submitted",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.782606Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GFI1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 607847 ?Neutropenia, nonimmune chronic idiopathic, of adults; PMID(s): none submitted",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.770721Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GATA2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614038 Emberger syndrome; PMID(s): none submitted",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.759219Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GATA1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 314050 Thrombocytopenia with beta-thalassemia, X-linked; PMID(s): none submitted",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.747140Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: G6PC3: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: G6PC3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612541 Neutropenia, severe congenital 4, autosomal recessive; PMID(s): none submitted",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.734633Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FYB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.717983Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ETV6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616216 Thrombocytopenia 5; PMID(s): none submitted",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.702699Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ERCC6L2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ERCC6L2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615715 Bone marrow failure syndrome 2; PMID(s): none submitted",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.689782Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ELANE: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ELANE; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 202700 Neutropenia, severe congenital 1, autosomal dominant; 162800 Neutropenia, cyclic; PMID(s): none submitted",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.673236Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: EFL1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EFL1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617941 Shwachman-Diamond syndrome 2; PMID(s): none submitted",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.658614Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DNAJC21: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DNAJC21; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617052 Bone marrow failure syndrome 3; PMID(s): none submitted",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.645035Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DKC1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DKC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 305000 Dyskeratosis congenita; PMID(s): none submitted",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.626574Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CYCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.611028Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CXCR4: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CXCR4; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 193670 WHIM syndrome; PMID(s): none submitted",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.597407Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CTC1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CTC1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A Dyskeratosis congenita; PMID(s): none submitted",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.584480Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CSF3R: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CSF3R; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617014 Neutropenia, severe congenital, 7, autosomal recessive; PMID(s): none submitted",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.571408Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ANKRD26: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANKRD26; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 188000 Thrombocytopenia 2; PMID(s): none submitted",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:40:33.557364Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ACD: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACD; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616553 ?Dyskeratosis congenita 6 and 7; PMID(s): none submitted",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.733999Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300299 Neutropenia, severe congenital, X-linked; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.718680Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 313900 Thrombocytopenia, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.703408Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615285 Neutropenia, severe congenital, 5, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.688641Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604173 Poikiloderma with neutropenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.674423Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 618165 Bone marrow failure syndrome 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.660513Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613990 Dyskeratosis congenita, autosomal dominant 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.644961Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187950 Thrombocythemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.630571Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614742 {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.616181Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614743 pulmonary fibrosis and/or bone marrow failure, 129550 Dyskeratosis congenita, autosomal dominant 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.602148Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 302060 Barth syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.587696Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: SRP72: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614675 Bone marrow failure syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.573673Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 260400 Shwachman-Diamond syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.557985Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 159550 Ataxia-pancytopenia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.542003Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617053 MIRAGE syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.526818Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 615190 DC type 4 and 5; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.511059Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.496109Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: PARN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616353 Dyskeratosis congenita, autosomal recessive 6; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.481611Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 251260 Nijmegen breakage syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.466031Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: MYSM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 618116 Bone marrow failure syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.450031Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.434961Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.419287Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: JAGN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616022 Neutropenia, severe congenital, 6, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.403181Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.387365Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 610738 Neutropenia, severe congenital 3, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.370943Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 607847 ?Neutropenia, nonimmune chronic idiopathic, of adults; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.355770Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: GATA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614038 Emberger syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.340729Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 314050 Thrombocytopenia with beta-thalassemia, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.325814Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612541 Neutropenia, severe congenital 4, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.310629Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: FYB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 273900 Thrombocytopenia 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.295722Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616216 Thrombocytopenia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.280965Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615715 Bone marrow failure syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.265641Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202700 Neutropenia, severe congenital 1, autosomal dominant, 162800 Neutropenia, cyclic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.250022Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617941 Shwachman-Diamond syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.233459Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617052 Bone marrow failure syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.217569Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 305000 Dyskeratosis congenita; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.200426Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612004 Thrombocytopenia 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.184377Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: CXCR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 193670 WHIM syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.168695Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.152748Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617014 Neutropenia, severe congenital, 7, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.137472Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 188000 Thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:39:02.114516Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.17",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616553 ?Dyskeratosis congenita 6 and 7; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:03.504016Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 300299 Neutropenia, severe congenital, X-linked for gene: WRAP53",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:03.398681Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 313900 Thrombocytopenia, X-linked for gene: WAS",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:03.310812Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 615285 Neutropenia, severe congenital, 5, autosomal recessive for gene: VPS45",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:03.223350Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 604173 Poikiloderma with neutropenia for gene: USB1",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:03.132646Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 618165 Bone marrow failure syndrome 5 for gene: TP53",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:03.036207Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613990 Dyskeratosis congenita, autosomal dominant 3 for gene: TINF2",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:02.920522Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 187950 Thrombocythemia 1 for gene: THPO",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:02.805738Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614742 {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1} for gene: TERT",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:02.699926Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614743 pulmonary fibrosis and/or bone marrow failure; 129550 Dyskeratosis congenita, autosomal dominant 1 for gene: TERC",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:02.605857Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 302060 Barth syndrome for gene: TAZ",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:02.510508Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614675 Bone marrow failure syndrome 1 for gene: SRP72",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:02.415118Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 260400 Shwachman-Diamond syndrome for gene: SBDS",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:02.319473Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 159550 Ataxia-pancytopenia syndrome for gene: SAMD9L",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:02.214980Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617053 MIRAGE syndrome for gene: SAMD9",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:02.118355Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; 615190 DC type 4 and 5 for gene: RTEL1",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:02.012170Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:01.917219Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6 for gene: PARN",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:01.828664Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 251260 Nijmegen breakage syndrome for gene: NBN",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:01.730821Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 618116 Bone marrow failure syndrome 4 for gene: MYSM1",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:01.629988Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:01.526372Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:01.431209Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616022 Neutropenia, severe congenital, 6, autosomal recessive for gene: JAGN1",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:01.336755Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:01.242054Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 610738 Neutropenia, severe congenital 3, autosomal recessive for gene: HAX1",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:01.144472Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 607847 ?Neutropenia, nonimmune chronic idiopathic, of adults for gene: GFI1",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:01.040812Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614038 Emberger syndrome for gene: GATA2",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:00.946424Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 314050 Thrombocytopenia with beta-thalassemia, X-linked for gene: GATA1",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:00.854806Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 612541 Neutropenia, severe congenital 4, autosomal recessive for gene: G6PC3",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:00.745519Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 273900 Thrombocytopenia 3 for gene: FYB1",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:00.640861Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:00.537930Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 615715 Bone marrow failure syndrome 2 for gene: ERCC6L2",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:00.438348Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 202700 Neutropenia, severe congenital 1, autosomal dominant; 162800 Neutropenia, cyclic for gene: ELANE",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:00.346566Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617941 Shwachman-Diamond syndrome 2 for gene: EFL1",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:00.254408Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617052 Bone marrow failure syndrome 3 for gene: DNAJC21",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:00.151355Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 305000 Dyskeratosis congenita for gene: DKC1",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:37:00.050535Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 612004 Thrombocytopenia 4 for gene: CYCS",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:36:59.963165Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 193670 WHIM syndrome for gene: CXCR4",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:36:59.865793Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Dyskeratosis congenita for gene: CTC1",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:36:59.769249Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617014 Neutropenia, severe congenital, 7, autosomal recessive for gene: CSF3R",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:36:59.668578Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:36:59.576403Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616553 ?Dyskeratosis congenita 6 and 7 for gene: ACD",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:33:02.563427Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.15",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TP53.",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:33:01.376453Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.15",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MYSM1.",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:33:00.561103Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.15",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FYB1.",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:33:00.043624Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.15",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CYCS.",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:38.157873Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to WRAP53.",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:38.066156Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to WAS.",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:37.978386Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to VPS45.",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:37.892188Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to USB1.",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:37.835905Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TP53 was added\ngene: TP53 was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH\nMode of inheritance for gene: TP53 was set to ",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:37.758516Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to TINF2.",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:37.671681Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to THPO.",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:37.574663Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to TERT.",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:37.484511Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to TERC.",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:37.392419Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to TAZ.",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:37.304757Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SRP72.",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:37.211296Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SBDS.",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:37.112861Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SAMD9L.",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:37.019931Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SAMD9.",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:36.910439Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to RTEL1.",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:36.802090Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to RBM8A.",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:36.698485Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to PARN.",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:36.596422Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to NBN.",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:36.526807Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MYSM1 was added\ngene: MYSM1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH\nMode of inheritance for gene: MYSM1 was set to ",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:36.431224Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to MPL.",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:36.326778Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to MECOM.",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:36.221974Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to JAGN1.",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:36.118755Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to HOXA11.",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:36.024528Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to HAX1.",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:35.922848Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to GFI1.",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:35.827334Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to GATA2.",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:35.727027Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to GATA1.",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:35.631857Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to G6PC3.",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:35.563861Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: FYB1 was added\ngene: FYB1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH\nMode of inheritance for gene: FYB1 was set to ",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:35.490391Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ETV6.",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:35.391747Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ERCC6L2.",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:35.307562Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ELANE.",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:35.221631Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to EFL1.",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:35.138429Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to DNAJC21.",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:35.059923Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to DKC1.",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:34.997516Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CYCS was added\ngene: CYCS was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH\nMode of inheritance for gene: CYCS was set to ",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:34.922897Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to CXCR4.",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:34.818858Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to CTC1.",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:34.730448Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to CSF3R.",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:34.633266Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ANKRD26.",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-14T17:31:34.524584Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ACD.",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:19.871527Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to EFL1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:19.794217Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to JAGN1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:19.712039Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ETV6.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:19.631388Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to THPO.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:19.550258Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to STIM1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:19.462152Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DDX41.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:19.377653Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to MECOM.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:19.301277Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SLC37A4.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:19.215449Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to ACKR1.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "ACKR1",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:19.143660Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to TUBB1.",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:19.067787Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RBM8A.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:18.989574Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to NBEAL2.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:18.903541Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to MYH9.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:18.816219Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GP1BA.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:18.738560Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ANKRD26.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:18.665802Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RUNX1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:18.586344Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SMARCAL1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:18.512300Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to PARN.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:18.437628Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to MPL.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:18.360235Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to LIG4.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:18.285430Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to HOXA11.",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-08T14:02:18.199729Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ACD.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:33.652868Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene EFL1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 617941 Shwachman-Diamond syndrome 2 for gene: EFL1",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:33.569622Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene JAGN1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 616022 Neutropenia, severe congenital, 6 for gene: JAGN1",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:33.493352Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene ETV6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes 616216 Thrombocytopenia 5 for gene: ETV6",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:33.417478Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene THPO was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes 187950 Thrombocythemia 1 for gene: THPO",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:33.321701Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene STIM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes 185070 Stormorken syndrome for gene: STIM1",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:33.231985Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene DDX41 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes 616871 Susceptibility to myeloid neoplasms for gene: DDX41",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:33.127078Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene MECOM was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:33.022686Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene SLC37A4 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 232220 Glycogen storage disease Ib for gene: SLC37A4",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:32.938634Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene ACKR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes 613665 Benign hereditary neutropenia for gene: ACKR1",
"entity_name": "ACKR1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:32.852384Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene TUBB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes 613112 Macrothrombocytopenia for gene: TUBB1",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:32.769665Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene RBM8A was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:32.690103Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene NBEAL2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 139090 Gray platelet syndrome for gene: NBEAL2",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:32.607143Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene MYH9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes 155100 Macrothrombocytopenia for gene: MYH9",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:32.524996Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene GP1BA was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 231200 Bernard-Soulier syndrome, type A1 for gene: GP1BA",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:32.430410Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene ANKRD26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:32.338726Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene RUNX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:32.246924Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene SMARCAL1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 242900 Schimke immunoosseous dysplasia for gene: SMARCAL1",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:32.160356Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene PARN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6, for gene: PARN",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:32.065246Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene MPL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes 601977 Thrombocythemia 2; 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:31.981120Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene LIG4 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 606593 LIG4 syndrome for gene: LIG4",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:31.900758Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene HOXA11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:55:31.811617Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene ACD was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes 616553 ?Dyskeratosis congenita 6 and 7 for gene: ACD",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.805827Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: USB1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: USB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604173 Poikiloderma with neutropenia; PMID(s): 20004881; 20503306",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.792868Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: EFL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.777510Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: JAGN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.760401Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VPS45: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS45; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615285 Neutropenia, severe congenital, 5; PMID(s): 23738510; 23599270",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.746738Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CSF3R: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CSF3R; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617014 Neutropenia, severe congenital, 7; PMID(s): 19620628; 12203110; 26324699",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.734510Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ETV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.718130Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MPIG6B: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPIG6B; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617441 Thrombocytopenia, anemia, and myelofibrosis; PMID(s): 27743390",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.705164Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: THPO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.687227Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SAMD9L: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SAMD9L; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 159550 Ataxia-pancytopenia syndrome; PMID(s): 27259050",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.674632Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.656938Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DNAJC21: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DNAJC21; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617052 Bone marrow failure syndrome 3; PMID(s): 27346687",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.641844Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DDX41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.622372Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ERCC6L2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ERCC6L2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615715 Bone marrow failure syndrome 2; PMID(s): 24507776; 27185855",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.606706Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MECOM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.581436Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SAMD9: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SAMD9; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 617053 MIRAGE syndrome; PMID(s): 27182967",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.563622Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TAZ: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TAZ; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 302060 Barth syndrome; PMID(s): 9382096; 9345098",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.546562Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SLC37A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.524311Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HAX1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HAX1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 610738 Neutropenia, severe congenital 3; PMID(s): 17187068; 18337561; 18611981",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.506218Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GFI1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613107 Neutropenia, severe congenital 2; PMID(s): 12778173",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.487733Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: G6PC3: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: G6PC3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612541 Neutropenia, severe congenital 4; PMID(s): 19696212; 20717171; 19118303",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.471126Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ELANE: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ELANE; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 162800 Cyclic neutropenia;202700 Neutropenia, severe congenital 1; PMID(s): 10581030; 11001877; 18028488",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.452746Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CXCR4: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CXCR4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 193670 WHIM syndrome; PMID(s): 10767001; 12692554",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.433196Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ADA2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ADA2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615688 Polyarteritis nodosa/Sneddon sydrome; PMID(s): 24552284; 24552285; 25075847",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.404627Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ACKR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACKR1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.383738Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: WAS: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 313900 Thrombocytopenia; PMID(s): 8757563; 8528199; 11167787",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.367475Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TUBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.348837Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.330568Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NBEAL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.312703Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MYH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.294161Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GP1BA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.271778Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ANKRD26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.251669Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RUNX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.231450Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GATA2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614038 Emberger syndrome; PMID(s): 21892158; 21892162",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.213349Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: WRAP53: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WRAP53; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613988 Dyskeratosis congenita, autosomal recessive 3; PMID(s): 29514627; 21205863",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.196619Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TINF2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TINF2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613990 Dyskeratosis congenita, autosomal dominant 3; 268130 Revesz syndrome; PMID(s): 21536674; 18669893",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.177812Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TERT: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERT; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 613989 Dyskeratosis congenita;614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; PMID(s): 21436073; 18042801; 18460650",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.161866Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TERC: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERC; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 127550 Dyskeratosis congenita, autosomal dominant 1; PMID(s): 11574891; 12090986",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.144632Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SRP72: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRP72; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614675 Bone marrow failure syndrome 1; PMID(s): 22541560",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.129615Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.109830Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SBDS: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SBDS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 260400 Shwachman-Diamond syndrome; PMID(s): 12496757",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.084335Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RTEL1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RTEL1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 615190 Dyskeratosis congenita;616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3; PMID(s): 23329068; 23959892; 23453664",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.066709Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RMRP: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RMRP; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 250250 Cartilage-hair hypoplasia; PMID(s): 11207361; 16832578",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.051255Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PARN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.026547Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NOP10: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NOP10; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 224230 Dyskeratosis congenita, autosomal recessive 1; PMID(s): 17507419",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:31.009589Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NHP2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NHP2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613987 Dyskeratosis congenita, autosomal recessive 2; PMID(s): 18523010",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:30.992819Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:30.971151Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MASTL: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MASTL; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: Unknown; Phenotypes: Thrombocytopenia; PMID(s): 10891439; 22102272; 26136524",
"entity_name": "MASTL",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:30.955502Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:30.936493Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:30.920226Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DKC1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DKC1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 305000 Dyskeratosis congenita; PMID(s): 9888995; 11379875; 10364516",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:30.903564Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CTC1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CTC1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612199 Coats plus syndrome; PMID(s): 22532422; 22267198; 22387016; 22899577",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:43:30.887510Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ACD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.827952Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604173 Poikiloderma with neutropenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.813243Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617941 Shwachman-Diamond syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.794305Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: JAGN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616022 Neutropenia, severe congenital, 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.777537Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615285 Neutropenia, severe congenital, 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.759150Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617014 Neutropenia, severe congenital, 7; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.740462Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616216 Thrombocytopenia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.722412Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: MPIG6B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 617441 Thrombocytopenia, anemia, and myelofibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.704047Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187950 Thrombocythemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.686414Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: SAMD9L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 159550 Ataxia-pancytopenia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.667716Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 185070 Stormorken syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.649081Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617052 Bone marrow failure syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.631146Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: DDX41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616871 Susceptibility to myeloid neoplasms; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.612322Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615715 Bone marrow failure syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.592084Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.572152Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: SAMD9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 617053 MIRAGE syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.551464Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 302060 Barth syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.531620Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 232220 Glycogen storage disease Ib; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.512285Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 610738 Neutropenia, severe congenital 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.493570Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: GFI1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 613107 Neutropenia, severe congenital 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.474239Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612541 Neutropenia, severe congenital 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.455850Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 162800 Cyclic neutropenia, 202700 Neutropenia, severe congenital 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.436732Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 193670 WHIM syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.416514Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615688 Polyarteritis nodosa/Sneddon sydrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.395905Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: ACKR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 613665 Benign hereditary neutropenia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ACKR1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.376294Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 313900 Thrombocytopenia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.355618Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: TUBB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 613112 Macrothrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.335102Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.314933Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 139090 Gray platelet syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.295156Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 155100 Macrothrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.277536Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200 Bernard-Soulier syndrome, type A1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.258068Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 188000 Thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.238646Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.219210Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614038 Emberger syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.198742Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613988 Dyskeratosis congenita, autosomal recessive 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.179401Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613990 Dyskeratosis congenita, autosomal dominant 3, 268130 Revesz syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.160006Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613989 Dyskeratosis congenita, 614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.141710Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 127550 Dyskeratosis congenita, autosomal dominant 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.123355Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: SRP72: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614675 Bone marrow failure syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.105440Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 242900 Schimke immunoosseous dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.083400Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 260400 Shwachman-Diamond syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.063874Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615190 Dyskeratosis congenita, 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.043323Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 250250 Cartilage-hair hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.023796Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616353 Dyskeratosis congenita, autosomal recessive 6,, 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:37:00.005799Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: NOP10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 224230 Dyskeratosis congenita, autosomal recessive 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:36:59.987691Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613987 Dyskeratosis congenita, autosomal recessive 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:36:59.969238Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601977 Thrombocythemia 2, 604498 Thrombocytopenia, congenital amegakaryocytic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:36:59.949264Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: MASTL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Thrombocytopenia; Mode of inheritance: Unknown; Current diagnostic: yes",
"entity_name": "MASTL",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:36:59.929932Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 606593 LIG4 syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:36:59.912492Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: HOXA11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:36:59.893811Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 305000 Dyskeratosis congenita; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:36:59.874946Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612199 Coats plus syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:36:59.854912Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.10",
"user_name": "Frances Smith",
"item_type": "entity",
"text": "reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616553 ?Dyskeratosis congenita 6 and 7; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:34.344603Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 604173 Poikiloderma with neutropenia for gene: USB1\nPublications for gene USB1 were changed from to 20503306; 20004881",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:34.258724Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617941 Shwachman-Diamond syndrome 2 for gene: EFL1\nPublications for gene EFL1 were changed from to 28331068",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:34.183671Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616022 Neutropenia, severe congenital, 6 for gene: JAGN1\nPublications for gene JAGN1 were changed from to 25129144",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:34.101650Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 615285 Neutropenia, severe congenital, 5 for gene: VPS45",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:34.025355Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617014 Neutropenia, severe congenital, 7 for gene: CSF3R\nPublications for gene CSF3R were changed from 26324699; 24753537; 9001427 to 26324699; 12203110; 19620628",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:33.949285Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6\nPublications for gene ETV6 were changed from to 25581430; 25807284",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:33.870797Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617441 Thrombocytopenia, anemia, and myelofibrosis for gene: MPIG6B",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:33.789153Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 187950 Thrombocythemia 1 for gene: THPO\nPublications for gene THPO were changed from to 19553636; 10583217",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:33.719781Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 159550 Ataxia-pancytopenia syndrome for gene: SAMD9L\nPublications for gene SAMD9L were changed from 27259050; 28202457 to 27259050",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:33.649481Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 185070 Stormorken syndrome for gene: STIM1\nPublications for gene STIM1 were changed from to 25577287",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:33.574996Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617052 Bone marrow failure syndrome 3 for gene: DNAJC21\nPublications for gene DNAJC21 were changed from 27346687; 29700810; 28062395 to 27346687",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:33.492474Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616871 Susceptibility to myeloid neoplasms for gene: DDX41\nPublications for gene DDX41 were changed from to 25920683; 26712909",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:33.413945Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 615715 Bone marrow failure syndrome 2 for gene: ERCC6L2",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:33.310524Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM\nPublications for gene MECOM were changed from to 20091385; 26581901",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:33.230108Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617053 MIRAGE syndrome for gene: SAMD9",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:33.138729Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 302060 Barth syndrome for gene: TAZ\nPublications for gene TAZ were changed from to 9345098; 9382096",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:33.045641Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 232220 Glycogen storage disease Ib for gene: SLC37A4\nPublications for gene SLC37A4 were changed from to 9428641; 9675154",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:32.948895Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 610738 Neutropenia, severe congenital 3 for gene: HAX1\nPublications for gene HAX1 were changed from 17187068; 10581030; 18024606; 18337561 to 18611981; 17187068; 18337561",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:32.853394Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613107 Neutropenia, severe congenital 2 for gene: GFI1\nPublications for gene GFI1 were changed from 12530980; 12778173; 11810106; 19775295 to 12778173",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:32.758481Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 612541 Neutropenia, severe congenital 4 for gene: G6PC3\nPublications for gene G6PC3 were changed from 19118303 to 19696212; 19118303; 20717171",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:32.663263Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 202700 Neutropenia, severe congenital 1; 162800 Cyclic neutropenia for gene: ELANE\nPublications for gene ELANE were changed from 10581030; 11675333 to 18028488; 11001877; 10581030",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:32.573629Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 193670 WHIM syndrome for gene: CXCR4\nPublications for gene CXCR4 were changed from 12692554; 15536153 to 10767001; 12692554",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:32.481181Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 615688 Polyarteritis nodosa/Sneddon sydrome for gene: ADA2\nPublications for gene ADA2 were changed from to 25075847; 24552285; 24552284",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:32.391430Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613665 Benign hereditary neutropenia for gene: ACKR1",
"entity_name": "ACKR1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:32.312569Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 313900 Thrombocytopenia for gene: WAS\nPublications for gene WAS were changed from 16804117 to 8528199; 8757563; 11167787",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:32.236798Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613112 Macrothrombocytopenia for gene: TUBB1\nPublications for gene TUBB1 were changed from to 18849486",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:32.164970Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A\nPublications for gene RBM8A were changed from to 22366785; 17236129",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:32.071799Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 139090 Gray platelet syndrome for gene: NBEAL2\nPublications for gene NBEAL2 were changed from to 20709904",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:31.982372Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 155100 Macrothrombocytopenia for gene: MYH9\nPublications for gene MYH9 were changed from to 20174760",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:31.891774Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 231200 Bernard-Soulier syndrome, type A1 for gene: GP1BA\nPublications for gene GP1BA were changed from to 2308962",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:31.816758Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26\nPublications for gene ANKRD26 were changed from to 2121161; 20626622",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:31.749210Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1\nPublications for gene RUNX1 were changed from to 19357396; 9746808",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:31.679195Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614038 Emberger syndrome for gene: GATA2\nPublications for gene GATA2 were changed from 27418648; 21892162 to 21892158; 21892162",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:31.607114Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613988 Dyskeratosis congenita, autosomal recessive 3 for gene: WRAP53\nPublications for gene WRAP53 were changed from to 29514627; 21205863",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:31.533734Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613990 Dyskeratosis congenita, autosomal dominant 3; 268130 Revesz syndrome for gene: TINF2\nPublications for gene TINF2 were changed from to 18669893; 21536674",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:31.454338Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; 613989 Dyskeratosis congenita for gene: TERT\nPublications for gene TERT were changed from 15885610; 19179534; 15814878 to 21436073; 18460650; 18042801",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:31.364467Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 127550 Dyskeratosis congenita, autosomal dominant 1 for gene: TERC\nPublications for gene TERC were changed from to 11574891; 12090986",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:31.287020Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614675 Bone marrow failure syndrome 1 for gene: SRP72\nPublications for gene SRP72 were changed from to 22541560",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:31.212878Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 242900 Schimke immunoosseous dysplasia for gene: SMARCAL1\nPublications for gene SMARCAL1 were changed from to 17089404",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:31.142692Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 260400 Shwachman-Diamond syndrome for gene: SBDS\nPublications for gene SBDS were changed from 14749921; 12496757 to 12496757",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:31.072075Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3; 615190 Dyskeratosis congenita for gene: RTEL1\nPublications for gene RTEL1 were changed from 23591994; 23453664; 23329068 to 23453664; 23329068; 23959892",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:31.004097Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 250250 Cartilage-hair hypoplasia for gene: RMRP\nPublications for gene RMRP were changed from 11207361 to 11207361; 16832578",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:30.936417Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6, for gene: PARN\nPublications for gene PARN were changed from to 25848748; 26342108; 25893599",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:30.867376Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 224230 Dyskeratosis congenita, autosomal recessive 1 for gene: NOP10",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:30.707010Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613987 Dyskeratosis congenita, autosomal recessive 2 for gene: NHP2",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:30.637474Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 601977 Thrombocythemia 2; 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL\nPublications for gene MPL were changed from to 11133753; 10077649",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:30.565448Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Thrombocytopenia for gene: MASTL\nPublications for gene MASTL were changed from 12890928; 26136524; 21211618 to 10891439; 26136524; 22102272",
"entity_name": "MASTL",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:30.493528Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 606593 LIG4 syndrome for gene: LIG4\nPublications for gene LIG4 were changed from to 20133615; 16088910; 11779494",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:30.423307Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11\nPublications for gene HOXA11 were changed from to 20091385; 11101832",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:30.354325Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 305000 Dyskeratosis congenita for gene: DKC1\nPublications for gene DKC1 were changed from 10583221; 9590285; 9590276; 10217077 to 10364516; 9888995; 11379875",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:30.278342Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 612199 Coats plus syndrome for gene: CTC1\nPublications for gene CTC1 were changed from 22532422; 22899577 to 22532422; 22899577; 22267198; 22387016",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:31:30.201125Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616553 ?Dyskeratosis congenita 6 and 7 for gene: ACD\nPublications for gene ACD were changed from to 25233904; 25205116",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:14.268630Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to EFL1.",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:14.193159Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to JAGN1.",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:13.988469Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ETV6.",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:13.855080Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to THPO.",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:13.724088Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to STIM1.",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:13.590914Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DDX41.",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:13.452327Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MECOM.",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:13.261394Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC37A4.",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:12.827505Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ACKR1.",
"entity_name": "ACKR1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:12.699124Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TUBB1.",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:12.625842Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RBM8A.",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:12.554911Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NBEAL2.",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:12.486705Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MYH9.",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:12.414303Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GP1BA.",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:12.344324Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ANKRD26.",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:12.275513Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RUNX1.",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:11.843474Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SMARCAL1.",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:11.574507Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PARN.",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:11.364400Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MPL.",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:11.135942Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to LIG4.",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:11.052543Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to HOXA11.",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:27:10.793605Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ACD.",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:31.525179Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to USB1.",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:31.473100Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: EFL1 was added\ngene: EFL1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: EFL1 was set to ",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:31.423773Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: JAGN1 was added\ngene: JAGN1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: JAGN1 was set to ",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:31.338554Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to VPS45.",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:31.264677Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to CSF3R.",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:31.210661Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ETV6 was added\ngene: ETV6 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: ETV6 was set to ",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:31.133736Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to MPIG6B.",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:31.070569Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: THPO was added\ngene: THPO was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: THPO was set to ",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:31.003743Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to SAMD9L.",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:30.952696Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: STIM1 was added\ngene: STIM1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: STIM1 was set to ",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:30.883644Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to DNAJC21.",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:30.827860Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DDX41 was added\ngene: DDX41 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: DDX41 was set to ",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:30.757614Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to ERCC6L2.",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:30.701293Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MECOM was added\ngene: MECOM was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: MECOM was set to ",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:30.632046Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to SAMD9.",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:30.550215Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to TAZ.",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:30.491755Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SLC37A4 was added\ngene: SLC37A4 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: SLC37A4 was set to ",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:30.423179Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to HAX1.",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:30.338157Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to GFI1.",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:30.255674Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to G6PC3.",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:30.183647Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to ELANE.",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:30.103119Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to CXCR4.",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:30.017518Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to ADA2.",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:29.954653Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ACKR1 was added\ngene: ACKR1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: ACKR1 was set to ",
"entity_name": "ACKR1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:29.884146Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to WAS.",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:29.825604Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TUBB1 was added\ngene: TUBB1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: TUBB1 was set to ",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:29.777233Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RBM8A was added\ngene: RBM8A was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: RBM8A was set to ",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:29.719672Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: NBEAL2 was added\ngene: NBEAL2 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: NBEAL2 was set to ",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:29.659584Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MYH9 was added\ngene: MYH9 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: MYH9 was set to ",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:29.603148Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GP1BA was added\ngene: GP1BA was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: GP1BA was set to ",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:29.542489Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ANKRD26 was added\ngene: ANKRD26 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: ANKRD26 was set to ",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:29.498317Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RUNX1 was added\ngene: RUNX1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: RUNX1 was set to ",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:29.421693Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to GATA2.",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:29.345600Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to WRAP53.",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:29.264334Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to TINF2.",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:29.174528Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to TERT.",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:29.080365Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to TERC.",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:28.980488Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to SRP72.",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:28.914071Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SMARCAL1 was added\ngene: SMARCAL1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: SMARCAL1 was set to ",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:28.842142Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to SBDS.",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:28.766962Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RTEL1.",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:28.687760Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RMRP.",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:28.620108Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PARN was added\ngene: PARN was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: PARN was set to ",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:28.548213Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to NOP10.",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:28.471763Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to NHP2.",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:28.419270Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MPL was added\ngene: MPL was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: MPL was set to ",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:28.348030Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to MASTL.",
"entity_name": "MASTL",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:28.273482Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: LIG4 was added\ngene: LIG4 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: LIG4 was set to ",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:28.220788Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: HOXA11 was added\ngene: HOXA11 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: HOXA11 was set to ",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:28.148795Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to DKC1.",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:28.066091Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to CTC1.",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-02-08T13:25:27.996473Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ACD was added\ngene: ACD was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH\nMode of inheritance for gene: ACD was set to ",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.486718Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: WRAP53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.469307Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: WIPF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.454171Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: WAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.439898Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: VPS45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.425830Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: USB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.411054Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TSR2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.396437Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TINF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.381389Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.366380Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TERC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.350375Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TAZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.335788Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.320965Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SBDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.305327Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SAMD9L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.289687Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SAMD9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.274674Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RTEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.257456Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RMRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.239609Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.222259Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPS29: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.205001Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.187156Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPS27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPS27",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.169802Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPS26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.152106Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPS24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.138044Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPS19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.120601Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPS17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.101497Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.086794Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPL9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.071998Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.057156Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPL35A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.042809Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPL31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.028807Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPL27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:35.015077Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPL26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.999609Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPL18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.984997Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPL15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.967517Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPL11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.948242Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RAC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.931721Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NOP10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.917170Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.902021Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.887069Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MPIG6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.872151Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MASTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MASTL",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.857090Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: LAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.843250Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KLF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.829042Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KIF23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.814488Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: IKZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.800652Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: HAX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.785886Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GFI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.771780Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GATA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.757143Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.742116Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: G6PC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.728048Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FCGR3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FCGR3B",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.713287Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ERCC6L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.697512Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ELANE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.682414Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DNAJC21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.664376Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.649730Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CXCR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.634434Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.621161Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CSF3R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:13:34.605953Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ADA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.614041Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: WRAP53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.599546Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: WIPF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.583836Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.566682Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.548263Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: USB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.530538Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: TSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TSR2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.509030Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: TINF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.491713Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.473644Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: TERC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.456226Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.438839Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.424236Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.407193Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.389814Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.375088Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.357639Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.340218Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.323413Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RPS29: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.306470Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.289897Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RPS27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "RPS27",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.272377Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.255468Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.237109Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.218290Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.200952Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.183459Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RPL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.165854Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.147886Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.129417Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RPL31: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.112259Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RPL27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.094682Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.078772Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RPL18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.064432Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.049549Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.035905Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RAC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.021965Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: NOP10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:56.006218Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.985227Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.968136Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: MPIG6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.952390Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: MASTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MASTL",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.922619Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: LAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.905116Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.887337Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: KIF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.871967Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: IKZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.854286Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.837087Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.820972Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.802969Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.786131Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.771363Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: FCGR3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FCGR3B",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.756443Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.741410Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.726857Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.712251Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.698466Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.683777Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.668720Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:55.653412Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:22.137671Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to WRAP53.",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:22.057522Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to WIPF1.",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:21.969534Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to WAS.",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:21.900989Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to VPS45.",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:21.826407Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to USB1.",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:21.755045Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TSR2.",
"entity_name": "TSR2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:21.684347Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TINF2.",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:21.614141Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TERT.",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:21.534534Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TERC.",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:21.466048Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TAZ.",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:21.399154Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SRP72.",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:21.313127Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SBDS.",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:21.245664Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SAMD9L.",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:21.167973Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SAMD9.",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:21.097262Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RTEL1.",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:21.018488Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RMRP.",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:20.936926Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPS7.",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:20.844629Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPS29.",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:20.773714Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPS28.",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:20.684213Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPS27.",
"entity_name": "RPS27",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:20.605150Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPS26.",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:20.527388Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPS24.",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:20.447848Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPS19.",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:20.369656Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPS17.",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:20.285856Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPS10.",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:20.209310Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPL9.",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:20.136407Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPL5.",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:20.058679Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPL35A.",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:19.977628Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPL31.",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:19.898874Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPL27.",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:19.818520Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPL26.",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:19.737553Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPL18.",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:19.667407Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPL15.",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:19.582689Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPL11.",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:19.497632Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RAC2.",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:19.433237Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NOP10.",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:19.366068Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NHP2.",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:19.299568Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NBN.",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:19.213036Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MPIG6B.",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:19.128914Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MASTL.",
"entity_name": "MASTL",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:19.036922Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to LAT.",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:18.967541Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KLF1.",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:18.899557Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KIF23.",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:18.832246Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to IKZF1.",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:18.769012Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to HAX1.",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:18.704891Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GFI1.",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:18.641531Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GATA2.",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:18.577258Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GATA1.",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:18.511017Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to G6PC3.",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:18.444141Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FCGR3B.",
"entity_name": "FCGR3B",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:18.376893Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ERCC6L2.",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:18.303074Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ELANE.",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:18.232015Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DNAJC21.",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:18.149753Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DKC1.",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:18.069028Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CXCR4.",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:18.001232Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CTC1.",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:17.928096Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CSF3R.",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:12:17.844487Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ADA2.",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:40.275288Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to WRAP53.\nMode of inheritance for gene WRAP53 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Dyskeratosis Congenita, Autosomal Recessive, 3; Dyskeratosis Congenita, Recessive; Inherited Bone Marrow Failure Syndromes; Dyskeratosis congenita, autosomal recessive 3, 613988; Dyskeratosis congenita for gene: WRAP53\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:40.202511Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to WIPF1.\nMode of inheritance for gene WIPF1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes WIP deficiency; Wiskott-Aldrich syndrome like, WIP deficiency; Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent; ?Wiskott-Aldrich syndrome 2, 614493 for gene: WIPF1\nPublications for gene WIPF1 were changed from to 27742395; 11869681; 22231303; 14757742; 9405671\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:40.136401Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to WAS.\nMode of inheritance for gene WAS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nAdded phenotypes Thrombocytopenia, X-linked 313900; Thrombocytopenia, X-linked, intermittent, 313900; Wiskott-Aldrich syndrome, 301000; Neutropenia, severe congenital, X-linked, 300299 for gene: WAS\nPublications for gene WAS were changed from to 16804117\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:40.070570Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to VPS45.\nMode of inheritance for gene VPS45 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome; Neutropenia, severe congenital, 5, autosomal recessive, 615285; Severe congenital neutropenia; VPS45 deficiency for gene: VPS45\nPublications for gene VPS45 were changed from to 23738510; 23599270\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:40.005698Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to USB1.\nAdded phenotypes Poikiloderma with neutropenia, 604173; Dyskeratosis congenita for gene: USB1\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:39.941304Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to TSR2.\nMode of inheritance for gene TSR2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nAdded phenotypes ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 for gene: TSR2\nPublications for gene TSR2 were changed from to 24942156; 20301769\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "TSR2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:39.859609Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to TINF2.\nMode of inheritance for gene TINF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Revesz Syndrome; Dyskeratosis Congenita, Autosomal Dominant, 3; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; Dyskeratosis congenita; Dyskeratosis congenita, autosomal dominant 3, 613990; Revesz syndrome, 268130; Inherited Bone Marrow Failure Syndromes; Dyskeratosis Congenita, Dominant for gene: TINF2\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:39.791974Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to TERT.\nMode of inheritance for gene TERT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes {Pulmonary fibrosis, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal dominant 2}, 613989; Coronary artery disease; {Melanoma, cutaneous malignant, 9}, 615134; Aplastic Anemia; {Leukemia, acute myeloid}, 601626; {Dyskeratosis congenita, autosomal recessive 4}, 613989 for gene: TERT\nPublications for gene TERT were changed from to 15885610; 19179534; 15814878\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:39.727545Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to TERC.\nMode of inheritance for gene TERC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; Dyskeratosis congenita; Dyskeratosis Congenita, Autosomal Dominant, 1; Inherited Bone Marrow Failure Syndromes for gene: TERC\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:39.663132Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to TAZ.\nMode of inheritance for gene TAZ was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nAdded phenotypes Barth syndrome, 302060 for gene: TAZ\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:39.590440Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to SRP72.\nMode of inheritance for gene SRP72 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Familial Bone Marrow Failure; Bone Marrow Failure, Familial; Bone marrow failure, familial, 614675; Familial MDS (Myelodysplastic syndromes) for gene: SRP72\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:39.522110Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SBDS.\nMode of inheritance for gene SBDS was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Shwachman-Diamond syndrome 260400 for gene: SBDS\nPublications for gene SBDS were changed from to 14749921; 12496757\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:39.451396Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SAMD9L.\nMode of inheritance for gene SAMD9L was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Ataxia-pancytopenia syndrome, 159550 for gene: SAMD9L\nPublications for gene SAMD9L were changed from to 27259050; 28202457\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:39.382497Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SAMD9.\nMode of inheritance for gene SAMD9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes MIRAGE syndrome, 617053 for gene: SAMD9\nPublications for gene SAMD9 were changed from to 27182967\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:39.314866Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RTEL1.\nMode of inheritance for gene RTEL1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes Dyskeratosis congenita, autosomal recessive 5 615190; Dyskeratosis congenita, autosomal dominant 4, 615190 for gene: RTEL1\nPublications for gene RTEL1 were changed from to 23591994; 23453664; 23329068\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:39.245374Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RMRP.\nMode of inheritance for gene RMRP was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Cartilage-hair hypoplasia; Severe congenital neutropenia for gene: RMRP\nPublications for gene RMRP were changed from to 11207361\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:39.175339Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RPS7.\nMode of inheritance for gene RPS7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes DIAMOND-BLACKFAN ANEMIA 8; Diamond_Blackfan Anemia 8; Diamond-Blackfan anemia 8, 612563; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS7\nPublications for gene RPS7 were changed from to 25946618; 23718193; 27882484; 19061985\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:39.104993Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RPS29.\nMode of inheritance for gene RPS29 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Diamond-Blackfan anemia 13 615909 for gene: RPS29\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:39.019054Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to RPS28.\nMode of inheritance for gene RPS28 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 for gene: RPS28\nPublications for gene RPS28 were changed from to 24942156; 20301769\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:38.928184Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RPS27.\nMode of inheritance for gene RPS27 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409 for gene: RPS27\nPublications for gene RPS27 were changed from to 23718193; 25424902\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RPS27",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:38.850165Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RPS26.\nMode of inheritance for gene RPS26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Diamond_Blackfan Anemia 10; Diamond-Blackfan anemia 10, 613309; Diamond-Blackfan anemia 10; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS26\nPublications for gene RPS26 were changed from to 24675553; 25946618; 24942156; 20116044\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:38.765825Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RPS24.\nMode of inheritance for gene RPS24 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Diamond_Blackfan Anemia 3; DIAMOND-BLACKFAN ANEMIA 3; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond-blackfan anemia 3, 610629; Diamond Blackfan anemia for gene: RPS24\nPublications for gene RPS24 were changed from to 17186470; 19689926; 19773262; 25946618; 8647458; 2210388\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:38.688211Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RPS19.\nMode of inheritance for gene RPS19 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Diamond_Blackfan Anemia; Diamond-Blackfan anemia 1, 105650; DIAMOND-BLACKFAN ANEMIA 1; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS19\nPublications for gene RPS19 were changed from to 25946618; 24675553; 15384984; 9988267\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:38.609702Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RPS17.\nMode of inheritance for gene RPS17 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Diamond-Blackfan anemia 4, 612527 for gene: RPS17\nPublications for gene RPS17 were changed from to 22045982; 19953637; 17647292; 19061985\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:38.535446Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RPS10.\nMode of inheritance for gene RPS10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 9; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 9, 613308; DIAMOND-BLACKFAN ANEMIA 9; Diamond Blackfan anemia for gene: RPS10\nPublications for gene RPS10 were changed from to 25946618; 20116044; 23718193\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:38.456642Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RPL9.\nMode of inheritance for gene RPL9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Diamond-Blackfan anemia for gene: RPL9\nPublications for gene RPL9 were changed from to 23718193; 20116044\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:38.392094Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RPL5.\nMode of inheritance for gene RPL5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Diamond-Blackfan anemia 6, 612561; DIAMOND-BLACKFAN ANEMIA 6; Diamond_Blackfan Anemia 6; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPL5\nPublications for gene RPL5 were changed from to 25946618; 19191325; 19061985\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:38.323433Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RPL35A.\nMode of inheritance for gene RPL35A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Diamond-Blackfan anemia 5, 612528; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 5; Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 5; Diamond Blackfan anemia for gene: RPL35A\nPublications for gene RPL35A were changed from to 25946618; 18535205\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:38.257076Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RPL31.\nMode of inheritance for gene RPL31 was changed from to Unknown\nPublications for gene RPL31 were changed from to 25424902; 25042156\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:38.192132Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RPL27.\nMode of inheritance for gene RPL27 was changed from to Unknown\nAdded phenotypes Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 16, 617408 for gene: RPL27\nPublications for gene RPL27 were changed from to 25424902\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:38.128186Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RPL26.\nMode of inheritance for gene RPL26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes ?Diamond-Blackfan anemia 11,614900 for gene: RPL26\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:38.065601Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to RPL18.\nMode of inheritance for gene RPL18 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Diamond-Blackfan anaemia for gene: RPL18\nPublications for gene RPL18 were changed from to 28280134\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:37.806035Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RPL15.\nMode of inheritance for gene RPL15 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes ?Diamond-Blackfan anemia 12, 615550 for gene: RPL15\nPublications for gene RPL15 were changed from to 23812780; 19438500\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:37.743005Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RPL11.\nMode of inheritance for gene RPL11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Diamond_Blackfan Anemia 7; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 7; Diamond-Blackfan anemia 7, 612562; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPL11\nPublications for gene RPL11 were changed from to 19191325; 19061985\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:37.674404Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to RAC2.\nAdded phenotypes Neutrophil immunodeficiency syndrome, 608203 for gene: RAC2\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:37.603804Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to NOP10.\nMode of inheritance for gene NOP10 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230 for gene: NOP10\nPublications for gene NOP10 were changed from to 17507419\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:37.514160Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to NHP2.\nMode of inheritance for gene NHP2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Dyskeratosis congenita, autosomal recessive 2,613987 for gene: NHP2\nPublications for gene NHP2 were changed from to 18523010\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:37.449797Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to NBN.\nMode of inheritance for gene NBN was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Aplastic anemia, 609135; Leukemia, acute lymphoblastic, 613065; Nijmegen breakage syndrome, 251260 for gene: NBN\nPublications for gene NBN were changed from to 15338273; 11325820\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:37.382976Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to MPIG6B.\nMode of inheritance for gene MPIG6B was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes ?Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B\nPublications for gene MPIG6B were changed from to 27743390\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:37.314869Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to MASTL.\nMode of inheritance for gene MASTL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes severe aplastic anemia; Thrombocytopenia for gene: MASTL\nPublications for gene MASTL were changed from to 12890928; 26136524; 21211618\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "MASTL",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:37.244849Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to LAT.\nMode of inheritance for gene LAT was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Immunodeficiency 52, 617514 for gene: LAT\nPublications for gene LAT were changed from to 27522155; 27242165\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:37.167083Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to KLF1.\nMode of inheritance for gene KLF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Dyserythropoietic anemia, congenital, type IV, 613673; Congenital Dyserythropoietic Anemia for gene: KLF1\nPublications for gene KLF1 were changed from to 21055716\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:37.090433Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to KIF23.\nMode of inheritance for gene KIF23 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes CDA III; Congenital dyserythropoietic anemia (CDA); Congenital dyserythropoietic anemia type III; Enzyme Disorder for gene: KIF23\nPublications for gene KIF23 were changed from to 7711721; 7323912; 23570799\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:37.014481Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to IKZF1.\nMode of inheritance for gene IKZF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Acute lymphoblastic leukemia (ALL); Immunodeficiency, common variable, 13,616873 for gene: IKZF1\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:36.940060Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to HAX1.\nMode of inheritance for gene HAX1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738; Inherited Bone Marrow Failure Syndromes - Neutropenia; Severe congenital neutropenic; Neutropenia, Severe Congenital, 3 Autosomal Dominant for gene: HAX1\nPublications for gene HAX1 were changed from to 17187068; 10581030; 18024606; 18337561\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:36.855681Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GFI1.\nMode of inheritance for gene GFI1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Neutropenia, Nonimmune Chronic Idiopathic, Of Adults; Inherited Bone Marrow Failure Syndromes - Neutropenia; Neutropenia, Severe Congenital, 2 Autosomal Dominant; Severe congenital neutropenic; Neutropenia, severe congenital 2, autosomal dominant, 613107 for gene: GFI1\nPublications for gene GFI1 were changed from to 12530980; 12778173; 11810106; 19775295\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:36.790759Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GATA2.\nMode of inheritance for gene GATA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Congenital dyserythropoietic anemia (CDA); Myelodysplastic Syndrome; Familial MDS (Myelodysplastic syndromes); Leukemia, Acute Myeloid; {Leukemia, acute myeloid, susceptibility to}, 601626; Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies; {Myelodysplastic syndrome, susceptibility to}, 614286; Primary Lymphedema with Myelodysplasia; Lymphedema, Primary, With Myelodysplasia; Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency; Immunodeficiency 21; Emberger syndrome, 614038 (includes pancytopenia); Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172 for gene: GATA2\nPublications for gene GATA2 were changed from to 27418648; 21892162\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:36.715431Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GATA1.\nMode of inheritance for gene GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nAdded phenotypes Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Myelodysplastic syndrome (MDS), Paediatric for gene: GATA1\nPublications for gene GATA1 were changed from to 22706301; 24952648; 24766296; 10700180; 24453067\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:36.640383Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to G6PC3.\nMode of inheritance for gene G6PC3 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Dursun syndrome, 612541; Severe congenital neutropenic; Inherited Bone Marrow Failure Syndromes - Neutropenia; Neutropenia, severe congenital 4, autosomal recessive, 612541; Neutropenia, Severe Congenital, 4 Autosomal Dominant; Severe Congenital Neutropenia for gene: G6PC3\nPublications for gene G6PC3 were changed from to 19118303\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:36.566660Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to FCGR3B.\nMode of inheritance for gene FCGR3B was changed from to Other - please specify in evaluation comments\nAdded phenotypes Neutropenia,alloimmuneneonatal for gene: FCGR3B\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "FCGR3B",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:36.487103Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ERCC6L2.\nMode of inheritance for gene ERCC6L2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Bone marrow failure syndrome 2, 615715 for gene: ERCC6L2\nPublications for gene ERCC6L2 were changed from to 24507776; 27185855\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:36.406566Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ELANE.\nMode of inheritance for gene ELANE was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Neutropenia, cyclic 162800; Neutropenia, severe congenital 1, autosomal dominant 202700 for gene: ELANE\nPublications for gene ELANE were changed from to 10581030; 11675333\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:36.336191Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DNAJC21.\nMode of inheritance for gene DNAJC21 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Pancytopaenia; Bone Marrow Failure; Bone marrow failure syndrome 3, 617052 for gene: DNAJC21\nPublications for gene DNAJC21 were changed from to 27346687; 29700810; 28062395\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:36.264853Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DKC1.\nMode of inheritance for gene DKC1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nAdded phenotypes Dyskeratosis congenita, X-linked, 305000; Dyskeratosis congenita for gene: DKC1\nPublications for gene DKC1 were changed from to 10583221; 9590285; 9590276; 10217077\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:36.186557Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CXCR4.\nMode of inheritance for gene CXCR4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated; WHIM syndrome, 193670; Severe congenital neutropenia for gene: CXCR4\nPublications for gene CXCR4 were changed from to 12692554; 15536153\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:36.114294Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CTC1.\nMode of inheritance for gene CTC1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; Dyskeratosis Congenita, Recessive; Inherited Bone Marrow Failure Syndromes; Dyskeratosis congenita for gene: CTC1\nPublications for gene CTC1 were changed from to 22532422; 22899577\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:36.046244Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CSF3R.\nMode of inheritance for gene CSF3R was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Neutropenia, severe congenital, 7, autosomal recessive, 617014; Severe congenital neutropenia for gene: CSF3R\nPublications for gene CSF3R were changed from to 26324699; 24753537; 9001427\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:11:35.963313Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ADA2.\nAdded phenotypes Diamond Blackfan anaemia for gene: ADA2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:55.096836Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: WRAP53 was added\ngene: WRAP53 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: WRAP53 was set to ",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:55.050724Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: WIPF1 was added\ngene: WIPF1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: WIPF1 was set to ",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:55.006042Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: WAS was added\ngene: WAS was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: WAS was set to ",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.963201Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: VPS45 was added\ngene: VPS45 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: VPS45 was set to ",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.918321Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: USB1 was added\ngene: USB1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: USB1 was set to ",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.872793Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TSR2 was added\ngene: TSR2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: TSR2 was set to ",
"entity_name": "TSR2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.823316Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TINF2 was added\ngene: TINF2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: TINF2 was set to ",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.772163Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TERT was added\ngene: TERT was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: TERT was set to ",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.717787Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TERC was added\ngene: TERC was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: TERC was set to ",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.664923Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TAZ was added\ngene: TAZ was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: TAZ was set to ",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.612395Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SRP72 was added\ngene: SRP72 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: SRP72 was set to ",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.559218Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SBDS was added\ngene: SBDS was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: SBDS was set to ",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.505492Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SAMD9L was added\ngene: SAMD9L was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: SAMD9L was set to ",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.453451Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SAMD9 was added\ngene: SAMD9 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: SAMD9 was set to ",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.402613Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RTEL1 was added\ngene: RTEL1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RTEL1 was set to ",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.353750Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RMRP was added\ngene: RMRP was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RMRP was set to ",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.305370Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RPS7 was added\ngene: RPS7 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RPS7 was set to ",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.260225Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RPS29 was added\ngene: RPS29 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RPS29 was set to ",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.217231Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RPS28 was added\ngene: RPS28 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RPS28 was set to ",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.177074Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RPS27 was added\ngene: RPS27 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RPS27 was set to ",
"entity_name": "RPS27",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.134734Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RPS26 was added\ngene: RPS26 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RPS26 was set to ",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.094528Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RPS24 was added\ngene: RPS24 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RPS24 was set to ",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.056252Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RPS19 was added\ngene: RPS19 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RPS19 was set to ",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:54.016998Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RPS17 was added\ngene: RPS17 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RPS17 was set to ",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.977896Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RPS10 was added\ngene: RPS10 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RPS10 was set to ",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.937442Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RPL9 was added\ngene: RPL9 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RPL9 was set to ",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.895866Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RPL5 was added\ngene: RPL5 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RPL5 was set to ",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.856157Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RPL35A was added\ngene: RPL35A was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RPL35A was set to ",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.818237Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RPL31 was added\ngene: RPL31 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RPL31 was set to ",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.778918Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RPL27 was added\ngene: RPL27 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RPL27 was set to ",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.737745Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RPL26 was added\ngene: RPL26 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RPL26 was set to ",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.698752Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RPL18 was added\ngene: RPL18 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RPL18 was set to ",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.659134Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RPL15 was added\ngene: RPL15 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RPL15 was set to ",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.620655Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RPL11 was added\ngene: RPL11 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RPL11 was set to ",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.580010Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RAC2 was added\ngene: RAC2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RAC2 was set to ",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.538858Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: NOP10 was added\ngene: NOP10 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: NOP10 was set to ",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.500681Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: NHP2 was added\ngene: NHP2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: NHP2 was set to ",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.458197Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: NBN was added\ngene: NBN was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: NBN was set to ",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.419032Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MPIG6B was added\ngene: MPIG6B was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: MPIG6B was set to ",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.380054Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MASTL was added\ngene: MASTL was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: MASTL was set to ",
"entity_name": "MASTL",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.340133Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: LAT was added\ngene: LAT was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: LAT was set to ",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.301765Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: KLF1 was added\ngene: KLF1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: KLF1 was set to ",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.264099Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: KIF23 was added\ngene: KIF23 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: KIF23 was set to ",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.226073Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: IKZF1 was added\ngene: IKZF1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: IKZF1 was set to ",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.182775Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: HAX1 was added\ngene: HAX1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: HAX1 was set to ",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.146758Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GFI1 was added\ngene: GFI1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: GFI1 was set to ",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.104171Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GATA2 was added\ngene: GATA2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: GATA2 was set to ",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.063508Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GATA1 was added\ngene: GATA1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: GATA1 was set to ",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:53.022122Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: G6PC3 was added\ngene: G6PC3 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: G6PC3 was set to ",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:52.958717Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: FCGR3B was added\ngene: FCGR3B was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: FCGR3B was set to ",
"entity_name": "FCGR3B",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:52.918318Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ERCC6L2 was added\ngene: ERCC6L2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: ERCC6L2 was set to ",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:52.877640Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ELANE was added\ngene: ELANE was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: ELANE was set to ",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:52.838878Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DNAJC21 was added\ngene: DNAJC21 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: DNAJC21 was set to ",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:52.800384Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DKC1 was added\ngene: DKC1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: DKC1 was set to ",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:52.763428Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CXCR4 was added\ngene: CXCR4 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: CXCR4 was set to ",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:52.725455Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CTC1 was added\ngene: CTC1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: CTC1 was set to ",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:52.689062Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CSF3R was added\ngene: CSF3R was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: CSF3R was set to ",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:10:52.634441Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ADA2 was added\ngene: ADA2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: ADA2 was set to ",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2018-11-16T09:42:40.748776Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "0.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Added Panel Cytopenia - NOT Fanconi anaemia\nSet panel types to: GMS Rare Disease",
"entity_name": null,
"entity_type": null
}
]