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{
"count": 220440,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1290",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1288",
"results": [
{
"created": "2021-06-20T19:43:44.589156+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCCS as ready",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2021-06-20T19:43:44.577634+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hccs has been classified as Green List (High Evidence).",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2021-06-20T19:43:41.774249+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, MIM# 309801",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2021-06-20T19:43:13.768857+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCCS 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": "HCCS",
"entity_type": "gene"
},
{
"created": "2021-06-20T19:42:49.295433+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Linear skin defects with multiple congenital anomalies 1, MIM# 309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2021-06-20T19:41:49.289448+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPC3 as ready",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2021-06-20T19:41:49.273340+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpc3 has been classified as Green List (High Evidence).",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2021-06-20T19:41:45.316545+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPC3 were changed from to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2021-06-20T19:41:20.219168+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2021-06-20T19:40:45.859858+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2021-06-20T19:01:26.727332+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFNB1 as ready",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2021-06-20T19:01:26.717776+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efnb1 has been classified as Green List (High Evidence).",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2021-06-20T19:01:24.735011+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFNB1 were changed from to Craniofrontonasal dysplasia, MIM# 304110; Diaphragmatic hernia",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2021-06-20T19:01:01.590255+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EFNB1 were set to ",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2021-06-20T19:00:26.872936+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EFNB1 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": "EFNB1",
"entity_type": "gene"
},
{
"created": "2021-06-20T19:00:02.706738+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32022998, 30469162, 21782985, 21064195, 20734337, 30469162; Phenotypes: Craniofrontonasal dysplasia, MIM# 304110, Diaphragmatic hernia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:54:41.053280+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLL3 as ready",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:54:41.041984+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dll3 has been classified as Red List (Low Evidence).",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:54:37.119383+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLL3 were changed from to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:54:18.722836+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DLL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:53:51.699222+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLL3 as Red List (low evidence)",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:53:51.689585+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dll3 has been classified as Red List (Low Evidence).",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:53:23.197946+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DLL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:48:34.232099+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD7 as ready",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:48:34.220949+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:48:31.440636+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD7 were changed from to CHARGE syndrome, MIM# 214800",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:48:03.074569+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD7 were set to ",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:47:40.687671+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:47:19.797730+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHD7 as Amber List (moderate evidence)",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:47:19.786468+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:46:50.679656+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD7: Rating: AMBER; Mode of pathogenicity: None; Publications: 17576576, 24185968; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:40:31.460981+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOCS1 were changed from Common variable immunodeficiency; Early-onset autoimmunity to Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375; Common variable immunodeficiency; Early-onset autoimmunity",
"entity_name": "SOCS1",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:40:09.272194+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SOCS1: Changed phenotypes: Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375, Early-onset autoimmunity",
"entity_name": "SOCS1",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:39:53.924734+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOCS1 were changed from Early-onset autoimmunity to Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375; Early-onset autoimmunity",
"entity_name": "SOCS1",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:39:17.813666+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SOCS1: Changed phenotypes: Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375, Early-onset autoimmunity",
"entity_name": "SOCS1",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:38:25.200481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LCP2 were changed from Severe combined immunodeficiency to Immunodeficiency 81, MIM# 619374; Severe combined immunodeficiency",
"entity_name": "LCP2",
"entity_type": "gene"
},
{
"created": "2021-06-20T18:38:04.931957+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LCP2: Changed phenotypes: Immunodeficiency 81, MIM# 619374, Severe combined immunodeficiency",
"entity_name": "LCP2",
"entity_type": "gene"
},
{
"created": "2021-06-20T17:42:19.950282+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: BCCD: Changed publications: 9182765, 33811808, 20560987, 26220009",
"entity_name": "BCCD",
"entity_type": "str"
},
{
"created": "2021-06-20T17:42:12.803671+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: NM_001024630.4(RUNX2):c.231_233[x]\r\nExpected mechanism of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein\r\nNormal repeat number: 17 (18 have been reported in the Danish population)\r\nPathogenic repeat number: 27 \r\nSources: Expert list; to: NM_001024630.4(RUNX2):c.231_233[x]\r\nExpected mechanism of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein\r\nNormal repeat number: 17 (18 have been reported in the Danish population)\r\nPathogenic repeat number: 27 (1 case with 20 Ala have been reported)\r\nSources: Expert list",
"entity_name": "BCCD",
"entity_type": "str"
},
{
"created": "2021-06-20T17:41:02.954422+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: NM_001024630.4(RUNX2):c.231_233[x]\r\nExpected mechanism of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein\r\nNormal repeat number: 17\r\nPathogenic repeat number: 27 \r\nSources: Expert list; to: NM_001024630.4(RUNX2):c.231_233[x]\r\nExpected mechanism of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein\r\nNormal repeat number: 17 (18 have been reported in the Danish population)\r\nPathogenic repeat number: 27 \r\nSources: Expert list",
"entity_name": "BCCD",
"entity_type": "str"
},
{
"created": "2021-06-20T17:40:43.386805+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: BCCD: Changed publications: 9182765, 33811808, 20560987",
"entity_name": "BCCD",
"entity_type": "str"
},
{
"created": "2021-06-20T17:35:00.572657+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: NM_000523.4(HOXD13):c.212_213GCG[X]\r\nMechanism of disease is polyAlanine tract associated with dominant-negative effect\r\nNormal repeat number: 15\r\nPathogenic repeat number: 24 \nSources: Expert list; to: NM_000523.4(HOXD13):c.212_213GCG[X]\r\nMechanism of disease is polyAlanine tract associated with dominant-negative effect\r\nNormal repeat number: 15\r\nPathogenic repeat number: 24 \r\nTruncation of repeat also reported\r\nSources: Expert list",
"entity_name": "SPD1",
"entity_type": "str"
},
{
"created": "2021-06-20T17:34:40.027662+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: SPD1: Changed publications: 8817328, 33811808, 33533119",
"entity_name": "SPD1",
"entity_type": "str"
},
{
"created": "2021-06-20T17:17:16.062638+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: EIEE1_tract2 as ready",
"entity_name": "EIEE1_tract2",
"entity_type": "str"
},
{
"created": "2021-06-20T17:17:16.052424+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: eiee1_tract2 has been classified as Green List (High Evidence).",
"entity_name": "EIEE1_tract2",
"entity_type": "str"
},
{
"created": "2021-06-20T17:14:41.356959+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: EIEE1_tract2 as Green List (high evidence)",
"entity_name": "EIEE1_tract2",
"entity_type": "str"
},
{
"created": "2021-06-20T17:14:41.347935+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: eiee1_tract2 has been classified as Green List (High Evidence).",
"entity_name": "EIEE1_tract2",
"entity_type": "str"
},
{
"created": "2021-06-20T17:14:32.981925+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: EIEE1_tract2 was added\nSTR: EIEE1_tract2 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: EIEE1_tract2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: EIEE1_tract2 were set to 11889467; 33811808\nPhenotypes for STR: EIEE1_tract2 were set to Developmental and epileptic encephalopathy 1 MIM#308350; Intellectual disability, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510\nReview for STR: EIEE1_tract2 was set to GREEN\nSTR: EIEE1_tract2 was marked as clinically relevant\nAdded comment: NM_139058.3(ARX):c.429GGC[X]\r\nMechanism of disease is polyAlanine tract associated with dominant-negative effect\r\nPolyAla tract 2 of 2 polyAla tracts associated with disease\r\nNormal repeat number: 12\r\nPathogenic repeat number: 20 \nSources: Expert list",
"entity_name": "EIEE1_tract2",
"entity_type": "str"
},
{
"created": "2021-06-20T17:04:08.377492+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: EIEE1_tract1 as ready",
"entity_name": "EIEE1_tract1",
"entity_type": "str"
},
{
"created": "2021-06-20T17:04:08.367947+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: eiee1_tract1 has been classified as Green List (High Evidence).",
"entity_name": "EIEE1_tract1",
"entity_type": "str"
},
{
"created": "2021-06-20T17:04:04.799092+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: EIEE1_tract1 as Green List (high evidence)",
"entity_name": "EIEE1_tract1",
"entity_type": "str"
},
{
"created": "2021-06-20T17:04:04.789906+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: eiee1_tract1 has been classified as Green List (High Evidence).",
"entity_name": "EIEE1_tract1",
"entity_type": "str"
},
{
"created": "2021-06-20T17:03:56.396685+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: EIEE1_tract1 was added\nSTR: EIEE1_tract1 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: EIEE1_tract1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: EIEE1_tract1 were set to 11889467; 33811808\nPhenotypes for STR: EIEE1_tract1 were set to Developmental and epileptic encephalopathy 1 MIM#308350; Intellectual disability, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510\nReview for STR: EIEE1_tract1 was set to GREEN\nSTR: EIEE1_tract1 was marked as clinically relevant\nAdded comment: NM_139058.3(ARX):c.306GGC[X]\r\nMechanism of disease is polyAlanine tract associated with dominant-negative effect\r\nPolyAla tract 1 of 2 polyAla tracts associated with disease\r\nNormal repeat number: 16\r\nPathogenic repeat number: 23 \nSources: Expert list",
"entity_name": "EIEE1_tract1",
"entity_type": "str"
},
{
"created": "2021-06-20T16:43:07.894076+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: HPE5 as ready",
"entity_name": "HPE5",
"entity_type": "str"
},
{
"created": "2021-06-20T16:43:07.884720+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hpe5 has been classified as Green List (High Evidence).",
"entity_name": "HPE5",
"entity_type": "str"
},
{
"created": "2021-06-20T16:43:05.021106+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: HPE5 as Green List (high evidence)",
"entity_name": "HPE5",
"entity_type": "str"
},
{
"created": "2021-06-20T16:43:05.010231+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hpe5 has been classified as Green List (High Evidence).",
"entity_name": "HPE5",
"entity_type": "str"
},
{
"created": "2021-06-20T16:42:55.632132+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HPE5 was added\nSTR: HPE5 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: HPE5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HPE5 were set to 11285244; 33811808\nPhenotypes for STR: HPE5 were set to Holoprosencephaly 5 MIM#609637\nReview for STR: HPE5 was set to GREEN\nSTR: HPE5 was marked as clinically relevant\nAdded comment: NM_007129.5(ZIC2):c.1366GCN[X]\r\nMechanism of disease is polyAlanine tract leading to a loss of function of the protein\r\nNormal repeat number: 15\r\nPathogenic repeat number: 25 \nSources: Expert list",
"entity_name": "HPE5",
"entity_type": "str"
},
{
"created": "2021-06-20T16:28:13.021478+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: BPES as ready",
"entity_name": "BPES",
"entity_type": "str"
},
{
"created": "2021-06-20T16:28:13.009006+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: bpes has been classified as Green List (High Evidence).",
"entity_name": "BPES",
"entity_type": "str"
},
{
"created": "2021-06-20T16:28:10.080841+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: BPES as Green List (high evidence)",
"entity_name": "BPES",
"entity_type": "str"
},
{
"created": "2021-06-20T16:28:10.062668+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: bpes has been classified as Green List (High Evidence).",
"entity_name": "BPES",
"entity_type": "str"
},
{
"created": "2021-06-20T16:28:00.571000+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: BPES was added\nSTR: BPES was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: BPES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for STR: BPES were set to 11468277; 33811808\nPhenotypes for STR: BPES were set to Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2 MIM#110100; Premature ovarian failure 3 MIM#608996\nReview for STR: BPES was set to GREEN\nSTR: BPES was marked as clinically relevant\nAdded comment: NM_023067.2:c.661_702[X]\r\nMechanism of disease is polyAlanine tract leading to a loss of function of the protein\r\nNormal repeat number: 14\r\nPathogenic repeat number: 19-24 \nSources: Expert list",
"entity_name": "BPES",
"entity_type": "str"
},
{
"created": "2021-06-20T16:11:21.314253+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IQGAP3 as ready",
"entity_name": "IQGAP3",
"entity_type": "gene"
},
{
"created": "2021-06-20T16:11:21.305141+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqgap3 has been classified as Red List (Low Evidence).",
"entity_name": "IQGAP3",
"entity_type": "gene"
},
{
"created": "2021-06-20T15:45:58.432405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IQGAP3 was added\ngene: IQGAP3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IQGAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: IQGAP3 were set to Hereditary neuropathy\nReview for gene: IQGAP3 was set to RED\nAdded comment: Single multiplex family, intronic variant, limited functional data. \nSources: Literature",
"entity_name": "IQGAP3",
"entity_type": "gene"
},
{
"created": "2021-06-20T12:32:57.140898+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: HDL2 as ready",
"entity_name": "HDL2",
"entity_type": "str"
},
{
"created": "2021-06-20T12:32:57.130614+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hdl2 has been classified as Green List (High Evidence).",
"entity_name": "HDL2",
"entity_type": "str"
},
{
"created": "2021-06-20T12:32:54.544929+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: HDL2 as Green List (high evidence)",
"entity_name": "HDL2",
"entity_type": "str"
},
{
"created": "2021-06-20T12:32:54.535918+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hdl2 has been classified as Green List (High Evidence).",
"entity_name": "HDL2",
"entity_type": "str"
},
{
"created": "2021-06-20T12:32:46.764702+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HDL2 was added\nSTR: HDL2 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: HDL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HDL2 were set to 11558794; 20301701\nPhenotypes for STR: HDL2 were set to Huntington disease-like 2 MIM#606438\nReview for STR: HDL2 was set to GREEN\nSTR: HDL2 was marked as clinically relevant\nAdded comment: NM_001271604.2:c.431CTG[X] or NM_020655.4:c.382+760CTG[X]\r\nIn an alternatively spliced exon, the repeat can be transcribed in both directions, leading to CUG (more common) or CAG (less common) repeat-containing transcripts. While a dominant RNA toxic effect may occur, the repeat expansion also reduces levels of the Junctophilin-3 protein\r\nNormal: ≤28 repeats\r\nQuestionable significance: 29-39 repeats, mutable normal or reduced penetrance included\r\nFull penetrance: ≥40 repeats \nSources: Expert list",
"entity_name": "HDL2",
"entity_type": "str"
},
{
"created": "2021-06-20T12:29:15.775726+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: HFGS_tract3 as ready",
"entity_name": "HFGS_tract3",
"entity_type": "str"
},
{
"created": "2021-06-20T12:29:15.766250+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hfgs_tract3 has been classified as Green List (High Evidence).",
"entity_name": "HFGS_tract3",
"entity_type": "str"
},
{
"created": "2021-06-20T12:29:10.618875+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: HFGS_tract3 as Green List (high evidence)",
"entity_name": "HFGS_tract3",
"entity_type": "str"
},
{
"created": "2021-06-20T12:29:10.607763+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hfgs_tract3 has been classified as Green List (High Evidence).",
"entity_name": "HFGS_tract3",
"entity_type": "str"
},
{
"created": "2021-06-20T12:29:02.773052+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HFGS_tract3 was added\nSTR: HFGS_tract3 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: HFGS_tract3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HFGS_tract3 were set to 10839976; 12073020; 33811808\nPhenotypes for STR: HFGS_tract3 were set to Hand-foot-uterus syndrome MIM#140000\nReview for STR: HFGS_tract3 was set to GREEN\nSTR: HFGS_tract3 was marked as clinically relevant\nAdded comment: NM_000522.5(HOXA13):c.357_359[X]\r\nExpected mechanism of disease is a polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein\r\nPolyAla tract 3 of the 3 N-terminal polyAla tracts\r\nNormal repeat number: 18\r\nPathogenic repeat number: 24-30 \nSources: Expert list",
"entity_name": "HFGS_tract3",
"entity_type": "str"
},
{
"created": "2021-06-20T12:23:15.568291+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: HFGS_tract2 as Green List (high evidence)",
"entity_name": "HFGS_tract2",
"entity_type": "str"
},
{
"created": "2021-06-20T12:23:15.557923+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hfgs_tract2 has been classified as Green List (High Evidence).",
"entity_name": "HFGS_tract2",
"entity_type": "str"
},
{
"created": "2021-06-20T12:23:02.264788+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HFGS_tract2 was added\nSTR: HFGS_tract2 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: HFGS_tract2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HFGS_tract2 were set to 10839976; 12073020; 33811808\nPhenotypes for STR: HFGS_tract2 were set to Hand-foot-uterus syndrome MIM#140000\nReview for STR: HFGS_tract2 was set to GREEN\nSTR: HFGS_tract2 was marked as clinically relevant\nAdded comment: NM_000522.5(HOXA13):c.217_219[X]\r\nExpected mechanism of disease is a polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein\r\nPolyAla tract 2 of the 3 N-terminal polyAla tracts\r\nNormal repeat number: 12\r\nPathogenic repeat number: 18 \nSources: Expert list",
"entity_name": "HFGS_tract2",
"entity_type": "str"
},
{
"created": "2021-06-20T12:10:56.176037+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: HFGS_tract1 as ready",
"entity_name": "HFGS_tract1",
"entity_type": "str"
},
{
"created": "2021-06-20T12:10:56.164987+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hfgs_tract1 has been classified as Green List (High Evidence).",
"entity_name": "HFGS_tract1",
"entity_type": "str"
},
{
"created": "2021-06-20T12:10:51.152417+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: HFGS_tract1 as Green List (high evidence)",
"entity_name": "HFGS_tract1",
"entity_type": "str"
},
{
"created": "2021-06-20T12:10:51.143615+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hfgs_tract1 has been classified as Green List (High Evidence).",
"entity_name": "HFGS_tract1",
"entity_type": "str"
},
{
"created": "2021-06-20T12:10:38.621548+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HFGS_tract1 was added\nSTR: HFGS_tract1 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: HFGS_tract1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HFGS_tract1 were set to 10839976; 12073020; 33811808\nPhenotypes for STR: HFGS_tract1 were set to Hand-foot-uterus syndrome MIM#140000\nReview for STR: HFGS_tract1 was set to GREEN\nSTR: HFGS_tract1 was marked as clinically relevant\nAdded comment: NM_000522.5(HOXA13):c.126_128[X]\r\nExpected mechanism of disease is a polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein\r\nPolyAla tract 1 of the 3 N-terminal polyAla tracts\r\nNormal repeat number: 14-16\r\nPathogenic repeat number: 22 \nSources: Expert list",
"entity_name": "HFGS_tract1",
"entity_type": "str"
},
{
"created": "2021-06-20T11:49:54.898638+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.346",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA17 as ready",
"entity_name": "SCA17",
"entity_type": "str"
},
{
"created": "2021-06-20T11:49:54.890371+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.346",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca17 has been classified as Green List (High Evidence).",
"entity_name": "SCA17",
"entity_type": "str"
},
{
"created": "2021-06-20T11:49:49.252283+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.346",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA17 as Green List (high evidence)",
"entity_name": "SCA17",
"entity_type": "str"
},
{
"created": "2021-06-20T11:49:49.242063+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.346",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca17 has been classified as Green List (High Evidence).",
"entity_name": "SCA17",
"entity_type": "str"
},
{
"created": "2021-06-20T11:49:24.940123+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.345",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA17 was added\nSTR: SCA17 was added to Regression. Sources: Expert list\nMode of inheritance for STR: SCA17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA17 were set to 10484774; 20301611; 29325606\nPhenotypes for STR: SCA17 were set to Spinocerebellar ataxia 17 MIM#607136\nReview for STR: SCA17 was set to GREEN\nSTR: SCA17 was marked as clinically relevant\nAdded comment: NM_003194.4:c.172_174[X]\r\nMechanism of disease expected to be gain of function\r\nNormal: ≤ 40 CAG/CAA repeats\r\nReduced-penetrance: 41-48 CAG/CAA repeats, individual may or may not develop symptoms.\r\nFull-penetrance: ≥49 CAG/CAA repeats \nSources: Expert list",
"entity_name": "SCA17",
"entity_type": "str"
},
{
"created": "2021-06-20T11:49:02.409887+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA17 as ready",
"entity_name": "SCA17",
"entity_type": "str"
},
{
"created": "2021-06-20T11:49:02.401212+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca17 has been classified as Green List (High Evidence).",
"entity_name": "SCA17",
"entity_type": "str"
},
{
"created": "2021-06-20T11:48:59.245197+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA17 as Green List (high evidence)",
"entity_name": "SCA17",
"entity_type": "str"
},
{
"created": "2021-06-20T11:48:59.235479+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca17 has been classified as Green List (High Evidence).",
"entity_name": "SCA17",
"entity_type": "str"
},
{
"created": "2021-06-20T11:48:49.116063+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA17 was added\nSTR: SCA17 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: SCA17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA17 were set to 10484774; 20301611; 29325606\nPhenotypes for STR: SCA17 were set to Spinocerebellar ataxia 17 MIM#607136\nReview for STR: SCA17 was set to GREEN\nSTR: SCA17 was marked as clinically relevant\nAdded comment: NM_003194.4:c.172_174[X]\r\nMechanism of disease expected to be gain of function\r\nNormal: ≤ 40 CAG/CAA repeats\r\nReduced-penetrance: 41-48 CAG/CAA repeats, individual may or may not develop symptoms.\r\nFull-penetrance: ≥49 CAG/CAA repeats \nSources: Expert list",
"entity_name": "SCA17",
"entity_type": "str"
},
{
"created": "2021-06-20T11:44:06.999928+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.344",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TBP as No list",
"entity_name": "TBP",
"entity_type": "gene"
},
{
"created": "2021-06-20T11:44:06.994821+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.344",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Only STR reported as pathogenic in this gene. Added as an STR under SCA17",
"entity_name": "TBP",
"entity_type": "gene"
},
{
"created": "2021-06-20T11:44:06.954587+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.344",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tbp has been removed from the panel.",
"entity_name": "TBP",
"entity_type": "gene"
},
{
"created": "2021-06-20T11:39:40.829189+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: OPMD as Green List (high evidence)",
"entity_name": "OPMD",
"entity_type": "str"
},
{
"created": "2021-06-20T11:39:40.818764+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: opmd has been classified as Green List (High Evidence).",
"entity_name": "OPMD",
"entity_type": "str"
},
{
"created": "2021-06-20T11:39:27.268073+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: OPMD was added\nSTR: OPMD was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: OPMD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for STR: OPMD were set to 9462747; 20301305\nPhenotypes for STR: OPMD were set to Oculopharyngeal muscular dystrophy MIM#164300\nReview for STR: OPMD was set to GREEN\nSTR: OPMD was marked as clinically relevant\nAdded comment: NM_004643.3:c.4_6[X]\r\nExpected gain of function mechanism of disease\r\nNormal allele: (GCN)10 / Ala10\r\nAutosomal recessive: (GCN)11/Ala11\r\nAutosomal dominant: (GCN)12-17 \nSources: Expert list",
"entity_name": "OPMD",
"entity_type": "str"
}
]
}