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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=397",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=395",
"results": [
{
"created": "2024-09-06T15:08:32.593092+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.268",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: itgb2 has been classified as Green List (High Evidence).",
"entity_name": "ITGB2",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:08:27.267956+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.268",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ITGB2 were set to ",
"entity_name": "ITGB2",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:08:16.075691+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUCLG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:07:34.263459+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SUCLG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33230783, 28358460; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:07:32.885317+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.267",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: JAK3 as ready",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:07:32.872684+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.267",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: jak3 has been classified as Green List (High Evidence).",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:07:22.922981+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.267",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: JAK3 were set to ",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:06:06.803909+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SURF1 as ready",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:06:06.785516+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: surf1 has been classified as Green List (High Evidence).",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:05:58.666796+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SURF1 were changed from to Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:05:51.962405+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.266",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: LAMB1 as ready",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:05:51.946427+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.266",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: lamb1 has been classified as Green List (High Evidence).",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:05:44.958148+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.266",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: LAMB1 were set to ",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:05:09.823242+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SURF1 were set to ",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:04:23.750955+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SURF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:04:22.661044+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.265",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: LGI4 as ready",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:04:22.631848+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.265",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: lgi4 has been classified as Green List (High Evidence).",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:04:14.871554+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.265",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: LGI4 were set to ",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:03:43.954526+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843204, 9837813; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:03:08.494227+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.264",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CPT1A as ready",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:03:08.480970+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.264",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: cpt1a has been classified as Green List (High Evidence).",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:03:03.365961+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.264",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CPT1A were set to ",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2024-09-06T14:59:31.544980+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.263",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Tag for review tag was added to gene: CSTB.",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2024-09-06T14:58:05.000054+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.263",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CSTB were set to ",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2024-09-06T14:49:38.455252+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.262",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CFH as ready",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2024-09-06T14:49:38.446668+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.262",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This deficiency, with biallelic form can cause atypical hemolytic uremic syndrome (HUS), type II or III membranoproliferative glomerulonephritis (MPGN) and increased susceptibility to meningicoccal infection. Can be early onset and severe requiring renal transplant. Variable expression\r\n\r\nGene also known as HF1",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2024-09-06T14:49:38.375649+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.262",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: cfh has been classified as Green List (High Evidence).",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2024-09-06T11:51:11.443064+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.37",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CAPN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: muscular dystrophy, limb-girdle, autosomal dominant MONDO:0015151, autosomal recessive limb-girdle muscular dystrophy MONDO:0015152; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2024-09-06T11:50:31.575582+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1998",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CAPN3: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: muscular dystrophy, limb-girdle, autosomal dominant MONDO:0015151, autosomal recessive limb-girdle muscular dystrophy MONDO:0015152; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2024-09-06T11:42:24.077415+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.37",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: BVES: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal recessive limb-girdle muscular dystrophy MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2024-09-06T11:42:02.869595+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1998",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: BVES: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal recessive limb-girdle muscular dystrophy MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2024-09-06T11:38:38.585242+10:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "1.5",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Update to ClinGen ClinGen Hemostasis Thrombosis VCEP - classified as DEFINITIVE for this gene-disease association on 04/09/2024 - https://search.clinicalgenome.org/CCID:004793; to: Update to ClinGen Hemostasis Thrombosis VCEP - classified as DEFINITIVE for this gene-disease association on 04/09/2024 - https://search.clinicalgenome.org/CCID:004793",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2024-09-06T11:38:29.499123+10:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "1.5",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hereditary angioedema type 3 MONDO:0012526; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2024-09-06T11:36:07.946338+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.52",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: EPHB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30213874; Phenotypes: bleeding disorder, platelet-type, 22 MONDO:0032765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2024-09-06T11:09:18.495327+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: TMEM5.",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2024-09-06T11:05:25.868865+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM5 as ready",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2024-09-06T11:05:25.848881+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem5 has been classified as Green List (High Evidence).",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2024-09-06T11:04:45.092880+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM5 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2024-09-06T11:02:52.348203+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM5 were set to 23217329; 23519211",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2024-09-06T11:00:19.001680+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM5 were set to ",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2024-09-06T10:59:34.766861+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2024-09-06T10:58:54.371970+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23217329, 23519211; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2024-09-06T10:34:15.976221+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.70",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: ALG8: Added comment: 2023 Paper: \r\n236 individuals identified with ALG8 protein-truncating variants. Patients were significantly at increased risk of having any kidney/liver cyst diagnosis (Odds Ratio 2.42), cystic kidney disease (OR 3.03), and nephrolithiasis (OR 1.89). ALG8 PTV heterozygotes were significantly more likely to have cystic kidney disease, defined as four or more kidney cysts (57.7% vs. 7.7%), or bilateral kidney cysts (69.2% vs. 15.4%), but not one or more liver cyst (11.5% vs. 7.7%). \r\n\r\nALG8 PTVs were not associated with chronic kidney disease or kidney failure in the MyCode study or the UK Biobank data. Thus, PTVs in ALG8 result in increased risk of a mild cystic kidney disease phenotype.; Changed publications: PMID: 36574950",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2024-09-06T09:45:57.968428+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTCRA were changed from Autoinflammatory syndrome, MONDO:0019751, PTCRA-related to Immunodeficiency 126, MIM# 620931",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-09-06T09:45:19.297103+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PTCRA: Changed phenotypes: Immunodeficiency 126, MIM# 620931",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-09-06T09:45:00.950305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTCRA were changed from Autoinflammatory syndrome, MONDO:0019751, PTCRA-related to Immunodeficiency 126, MIM# 620931",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-09-06T09:44:34.746971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PTCRA: Changed phenotypes: Immunodeficiency 126, MIM# 620931",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-09-05T19:11:55.791984+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSEN2 as ready",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2024-09-05T19:11:55.774332+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen2 has been classified as Green List (High Evidence).",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2024-09-05T19:11:51.373521+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSEN2 were changed from to Pontocerebellar hypoplasia type 2B, MIM# 612389",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2024-09-05T19:08:09.394812+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSEN2 were set to 23562994; 20952379",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2024-09-05T19:07:34.528755+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSEN2 were set to ",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2024-09-05T19:05:50.608969+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSEN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2024-09-05T19:04:52.532234+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSEN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2024-09-05T19:04:09.891420+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23562994, 20952379; Phenotypes: Pontocerebellar hypoplasia type 2B, MIM# 612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2024-09-05T19:02:57.911752+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC19 as ready",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2024-09-05T19:02:57.888232+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc19 has been classified as Green List (High Evidence).",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2024-09-05T19:02:53.180433+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC19 were changed from to Mitochondrial complex III deficiency, nuclear type 2, MIM#615157",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2024-09-05T19:02:04.841351+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC19 were set to ",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2024-09-05T19:01:20.773300+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTC19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2024-09-05T19:00:35.830018+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life. The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances.\r\n\r\nAt least 4 unrelated families reported.; to: Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life. The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances.\r\n\r\nIncluded due to phenotypic overlap.\r\n\r\nAt least 4 unrelated families reported.",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2024-09-05T19:00:15.039337+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: None; Publications: 21278747, 23532514, 24368687, 24397319; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2, MIM#615157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:53:25.298920+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBA1A as ready",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:53:25.279787+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba1a has been classified as Green List (High Evidence).",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:53:21.220445+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA1A were changed from to Lissencephaly 3, MIM# 611603",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:52:44.194282+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:51:59.946169+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 3, MIM# 611603; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:14:21.728751+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.278",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ZNRF3 as ready",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:14:21.710633+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.278",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: znrf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:13:34.295110+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.278",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZNRF3 as Amber List (moderate evidence)",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:13:34.275838+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.278",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: znrf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:13:16.107899+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.420",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ZNRF3 as ready",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:13:16.090284+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.420",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: znrf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:12:36.172197+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.277",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZNRF3 was added\ngene: ZNRF3 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: ZNRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZNRF3 were set to 39168120\nPhenotypes for gene: ZNRF3 were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: ZNRF3 was set to AMBER\nAdded comment: 12 individuals with ZNRF3 variants and various phenotypes. 8 individuals with de novo missense and neurodevelopment disorders (NDD), including cluster of variants in the RING ligase domain with macrocephalic NDD. Plus 4 individuals from 3 families with de novo truncating or de novo/inherited large in-frame deletion variants with non-NDD phenotypes, including heart, adrenal, or nephrotic problems. Overall, 4 individuals had congenital heart defects and 2 had microcephaly. Also, supporting in vitro functional assays. \nSources: Literature",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:09:52.963720+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ZNRF3 as ready",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:09:52.946364+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: znrf3 has been classified as Green List (High Evidence).",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:08:56.548959+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZNRF3 as Green List (high evidence)",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:08:56.519443+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: znrf3 has been classified as Green List (High Evidence).",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:08:44.246959+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.420",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZNRF3 as Amber List (moderate evidence)",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:08:44.232411+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.420",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: znrf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:06:09.359112+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.144",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZNRF3 as Green List (high evidence)",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:06:09.346705+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.144",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: znrf3 has been classified as Green List (High Evidence).",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:05:57.929556+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.419",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZNRF3 was added\ngene: ZNRF3 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: ZNRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZNRF3 were set to 39168120\nPhenotypes for gene: ZNRF3 were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: ZNRF3 was set to AMBER\nAdded comment: 12 individuals with ZNRF3 variants and various phenotypes. 8 individuals with de novo missense and neurodevelopment disorders (NDD), including cluster of variants in the RING ligase domain with macrocephalic NDD. Plus 4 individuals from 3 families with de novo truncating or de novo/inherited large in-frame deletion variants with non-NDD phenotypes, including heart, adrenal, or nephrotic problems. Overall, 4 individuals had congenital heart defects and 2 had microcephaly. Also, supporting in vitro functional assays. \nSources: Literature",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:05:19.681881+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ZNRF3 as ready",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:05:19.660245+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: znrf3 has been classified as Green List (High Evidence).",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:04:08.670621+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZNRF3 as Green List (high evidence)",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:04:08.655107+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: znrf3 has been classified as Green List (High Evidence).",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:03:58.414059+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.143",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZNRF3 was added\ngene: ZNRF3 was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: ZNRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZNRF3 were set to 39168120\nPhenotypes for gene: ZNRF3 were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: ZNRF3 was set to GREEN\nAdded comment: 12 individuals with ZNRF3 variants and various phenotypes. 8 individuals with de novo missense and neurodevelopment disorders (NDD), including cluster of variants in the RING ligase domain with macrocephalic NDD. Plus 4 individuals from 3 families with de novo truncating or de novo/inherited large in-frame deletion variants with non-NDD phenotypes, including heart, adrenal, or nephrotic problems. Overall, 4 individuals had congenital heart defects and 2 had microcephaly. Also, supporting in vitro functional assays. \nSources: Literature",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:03:13.129501+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1997",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ZNRF3 as ready",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:03:13.111192+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1997",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: znrf3 has been classified as Green List (High Evidence).",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:03:07.986027+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6152",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZNRF3 was added\ngene: ZNRF3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ZNRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZNRF3 were set to 39168120\nPhenotypes for gene: ZNRF3 were set to Complex neurodevelopmental disorder MONDO:0100038\nReview for gene: ZNRF3 was set to GREEN\nAdded comment: 12 individuals with ZNRF3 variants and various phenotypes. 8 individuals with de novo missense and neurodevelopment disorders (NDD), including cluster of variants in the RING ligase domain with macrocephalic NDD. Plus 4 individuals from 3 families with de novo truncating or de novo/inherited large in-frame deletion variants with non-NDD phenotypes, including heart, adrenal, or nephrotic problems. Overall, 4 individuals had congenital heart defects and 2 had microcephaly. Also, supporting in vitro functional assays. \nSources: Literature",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:02:55.662171+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1997",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZNRF3 as Green List (high evidence)",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:02:55.648440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1997",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: znrf3 has been classified as Green List (High Evidence).",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T18:02:26.621981+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1996",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZNRF3 was added\ngene: ZNRF3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZNRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZNRF3 were set to 39168120\nPhenotypes for gene: ZNRF3 were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: ZNRF3 was set to GREEN\nAdded comment: 12 individuals with ZNRF3 variants and various phenotypes. 8 individuals with de novo missense and neurodevelopment disorders (NDD), including cluster of variants in the RING ligase domain with macrocephalic NDD. Plus 4 individuals from 3 families with de novo truncating or de novo/inherited large in-frame deletion variants with non-NDD phenotypes, including heart, adrenal, or nephrotic problems. Overall, 4 individuals had congenital heart defects and 2 had microcephaly. Also, supporting in vitro functional assays. \nSources: Literature",
"entity_name": "ZNRF3",
"entity_type": "gene"
},
{
"created": "2024-09-05T17:32:10.337549+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFIA as ready",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2024-09-05T17:32:10.323452+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfia has been classified as Green List (High Evidence).",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2024-09-05T17:16:51.970634+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHTKD1 as ready",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2024-09-05T17:16:51.954095+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhtkd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2024-09-05T17:16:46.666341+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHTKD1 were changed from to 2-aminoadipic 2-oxoadipic aciduria MIM#204750; Disorders of histidine, tryptophan or lysine metabolism",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2024-09-05T17:16:01.077615+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHTKD1 were set to ",
"entity_name": "DHTKD1",
"entity_type": "gene"
}
]
}