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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=938",
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"results": [
{
"created": "2022-03-15T12:59:02.383726+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITGA7: Rating: GREEN; Mode of pathogenicity: None; Publications: 34552617, 9590299; Phenotypes: Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:58:46.518543+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITGA7 were changed from to Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:58:16.975039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITGA7 were set to ",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:57:15.278995+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITGA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:56:54.182915+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITGA7: Rating: GREEN; Mode of pathogenicity: None; Publications: 34552617, 9590299; Phenotypes: Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:47:57.506691+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITPA as ready",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:47:57.497229+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itpa has been classified as Green List (High Evidence).",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:47:53.601739+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITPA were changed from to Developmental and epileptic encephalopathy 35, MIM# 616647",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:47:20.403302+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITPA were set to ",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:46:44.758598+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:46:12.260023+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 26224535, 19498443, 35234647, 35098521; Phenotypes: Developmental and epileptic encephalopathy 35, MIM# 616647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:45:46.583675+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11374",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C1QC were changed from to C1q deficiency MIM#613652",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:45:44.490088+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11373",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C1QC were set to ",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:45:19.914460+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11373",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C1QC as ready",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:45:19.903430+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11373",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c1qc has been classified as Green List (High Evidence).",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:45:15.455833+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11373",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C1QC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:45:10.472365+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITPA as ready",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:45:10.455278+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itpa has been classified as Green List (High Evidence).",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:44:53.237980+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11372",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C1QC: Rating: GREEN; Mode of pathogenicity: None; Publications: 21654842, 8630118, 24157463; Phenotypes: C1q deficiency MIM#613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:44:52.488884+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITPA were changed from to Inosine triphosphatase deficiency MIM#613850; Developmental and epileptic encephalopathy 35 MIM#616647",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:44:29.568057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITPA were set to ",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:44:05.711005+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.46",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: C1QC: Changed publications: 21654842, 8630118, 24157463",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:43:45.705535+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 26224535, 19498443, 35234647, 35098521; Phenotypes: Developmental and epileptic encephalopathy 35, MIM# 616647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:43:43.161174+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.46",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C1QC as ready",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:43:43.147897+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.46",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c1qc has been classified as Green List (High Evidence).",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:43:26.350148+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.46",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C1QC were set to ",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:42:40.891741+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.45",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C1QC were changed from to C1q deficiency MIM#613652",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:42:19.759726+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.45",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C1QC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:41:48.800449+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.44",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C1QC: Rating: GREEN; Mode of pathogenicity: None; Publications: 8630118; Phenotypes: C1q deficiency MIM#613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:40:16.351425+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:39:30.361532+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IVD as ready",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:39:30.346306+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ivd has been classified as Green List (High Evidence).",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:39:27.323251+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IVD were changed from Isovaleric acidemia\t243500 to Isovaleric acidaemia, MIM# 243500",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:39:16.410974+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IVD were set to 23063737; 26018748; 24019846; 23587913",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:38:59.439338+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: 15486829; Phenotypes: Isovaleric acidaemia, MIM# 243500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:38:22.301414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IVD as ready",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:38:22.291912+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ivd has been classified as Green List (High Evidence).",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:38:14.849906+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IVD were changed from to Isovaleric acidaemia, MIM# 243500",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:37:54.443195+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IVD were set to ",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:37:35.201265+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IVD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:37:15.263554+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: 15486829; Phenotypes: Isovaleric acidaemia, MIM# 243500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:35:53.051901+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11366",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C1QB were set to ",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:35:50.520899+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11366",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C1QB were changed from to C1q deficiency, MIM# 613652",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:35:42.137426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11366",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C1QB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:35:40.317233+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11365",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C1QB as ready",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:35:40.304598+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11365",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c1qb has been classified as Green List (High Evidence).",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:35:17.772101+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11365",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C1QB: Rating: GREEN; Mode of pathogenicity: None; Publications: 2894352, 17513176; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:34:08.790448+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.112",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C12orf57 as ready",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:34:08.779997+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.112",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c12orf57 has been classified as Green List (High Evidence).",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:34:03.211833+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IYD as ready",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:34:03.199930+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iyd has been classified as Green List (High Evidence).",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:34:02.053735+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4568",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C12orf57 as ready",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:34:02.040169+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4568",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c12orf57 has been classified as Green List (High Evidence).",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:33:49.930825+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IYD were changed from to Thyroid dyshormonogenesis 4, MIM# 274800",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:33:34.818150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11364",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C12orf57 as ready",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:33:34.808361+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11364",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c12orf57 has been classified as Green List (High Evidence).",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:32:49.675637+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11364",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C12orf4 as ready",
"entity_name": "C12orf4",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:32:49.666418+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11364",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c12orf4 has been classified as Green List (High Evidence).",
"entity_name": "C12orf4",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:32:33.937206+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4568",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C12orf4 as ready",
"entity_name": "C12orf4",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:32:33.926517+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4568",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c12orf4 has been classified as Green List (High Evidence).",
"entity_name": "C12orf4",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:32:04.682288+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IYD were set to ",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:31:42.204032+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IYD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:31:25.483203+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11362",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C1GALT1C1 as ready",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:31:25.466854+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11362",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c1galt1c1 has been classified as Green List (High Evidence).",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:31:19.003148+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.11",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C1GALT1C1 as ready",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:31:18.990766+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.11",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c1galt1c1 has been classified as Green List (High Evidence).",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:31:17.822378+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four unrelated families reported.; to: Four unrelated families reported in 2008, limited reports since.",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:30:48.125544+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IYD: Rating: GREEN; Mode of pathogenicity: None; Publications: 18434651, 18434651; Phenotypes: Thyroid dyshormonogenesis 4, MIM# 274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:29:15.390206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11362",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C1GALT1C1 were changed from to Tn polyagglutination syndrome, somatic MIM#300622",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:29:02.237232+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.11",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C1GALT1C1 were changed from to Tn polyagglutination syndrome, somatic\tMIM#300622",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:28:40.288981+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.10",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: C1GALT1C1 as Green List (high evidence)",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:28:40.274123+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.10",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c1galt1c1 has been classified as Green List (High Evidence).",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:28:34.313291+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.9",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: C1GALT1C1 was added\ngene: C1GALT1C1 was added to Red cell disorders. Sources: Literature\nsomatic tags were added to gene: C1GALT1C1.\nMode of inheritance for gene: C1GALT1C1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: C1GALT1C1 were set to 18537974; 16251947\nReview for gene: C1GALT1C1 was set to GREEN\ngene: C1GALT1C1 was marked as current diagnostic\nAdded comment: Previously known as COSMC\r\n>3 unrelated. In 1 female, she was heterozygous for the variant in whole blood but homozygous in erythroblast culture \nSources: Literature",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:27:17.929008+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11361",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C1GALT1C1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:26:42.817344+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11360",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C1GALT1C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18537974, 16251947; Phenotypes: Tn polyagglutination syndrome, somatic MIM#300622; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:17:59.148068+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCAF4 as ready",
"entity_name": "SCAF4",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:17:59.139018+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scaf4 has been classified as Green List (High Evidence).",
"entity_name": "SCAF4",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:17:55.578080+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCAF4 were changed from Neurodevelopmental disorder, SCAF4-related MONDO#0700092 to Neurodevelopmental disorder MONDO#0700092, SCAF4-related",
"entity_name": "SCAF4",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:17:34.579939+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCAF4 as Green List (high evidence)",
"entity_name": "SCAF4",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:17:34.570771+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scaf4 has been classified as Green List (High Evidence).",
"entity_name": "SCAF4",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:14:02.972225+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4568",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf57 were changed from to Temtamy syndrome MIM#218340",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:13:41.296450+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4568",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C12orf57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:13:21.216166+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4568",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C12orf57 were set to ",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:12:40.811066+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4567",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: None; Publications: 29383837, 31853307; Phenotypes: Temtamy syndrome MIM#218340; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:12:05.100223+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.112",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: C12orf57 as Green List (high evidence)",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:12:05.088885+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.112",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c12orf57 has been classified as Green List (High Evidence).",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:11:31.254577+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.111",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: C12orf57 was added\ngene: C12orf57 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature\nMode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C12orf57 were set to 29383837; 31853307\nPhenotypes for gene: C12orf57 were set to Temtamy syndrome MIM#218340\nPenetrance for gene: C12orf57 were set to Complete\nReview for gene: C12orf57 was set to GREEN\ngene: C12orf57 was marked as current diagnostic\nAdded comment: 17/50 individuals reported with ventriculomegaly \nSources: Literature",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:04:20.018878+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.221",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MAPK1 as Amber List (moderate evidence)",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:04:19.998737+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.221",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mapk1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:03:59.445175+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.221",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MAPK1 as Amber List (moderate evidence)",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:03:59.432467+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.221",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mapk1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2022-03-15T11:33:53.596160+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.220",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: MAPK1 was added\ngene: MAPK1 was added to Hydrops fetalis. Sources: Literature\nMode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAPK1 were set to PMID: 32721402\nPhenotypes for gene: MAPK1 were set to Noonan syndrome 13 MIM#619087\nReview for gene: MAPK1 was set to GREEN\nAdded comment: PMID: 32721402 - GOF de novo missense variants reported in Noonan patients. Patients showed DD, ID, craniofacial abnormalities and CHD\r\n\r\nSupported by K/I mouse model \nSources: Literature",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2022-03-15T11:19:35.717779+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.9",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: SCAF4 was added\ngene: SCAF4 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SCAF4 were set to PMID: 32730804\nPhenotypes for gene: SCAF4 were set to Neurodevelopmental disorder, SCAF4-related MONDO#0700092\nReview for gene: SCAF4 was set to GREEN\nAdded comment: PMID: 32730804- 11 individuals with SCAF4 variants, 9 are de novo. Present with mild to severe ID/Dev delay, most have seizures, 4 have cardiac defects, 4 have renal anomalies, 3 have urogenital anomalies, 6 have skeletal anomalies, 2 have GI anomalies. \nSources: Literature",
"entity_name": "SCAF4",
"entity_type": "gene"
},
{
"created": "2022-03-15T11:15:33.289183+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.102",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "changed review comment from: PMID: 31928709 - 11 cases in 8 families.\r\n3/11 had true macrocephaly (>2 SD above), 1/11 had borderline and relative macrocephaly. \r\nOf the three with true macrocephaly, 1/3 had AR disease accompanied by tall stature, 2/3 had AD de novo variants. The borderline and relative macrocephaly patient was also for AD disease\r\n\r\nHowever 2/11 patients (siblings) had microcephaly \nSources: Literature; to: PMID: 31928709 - 11 cases in 8 families.\r\n3/11 had true macrocephaly (>2 SD above), 1/11 had borderline and relative macrocephaly. \r\nOf the three with true macrocephaly, 1/3 had AR disease accompanied by tall stature, 2/3 had AD de novo variants. The borderline and relative macrocephaly patient was also for AD disease\r\n\r\nHowever 2/11 patients (siblings) had microcephaly \r\nSources: Literature",
"entity_name": "TET3",
"entity_type": "gene"
},
{
"created": "2022-03-15T11:15:17.913331+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.102",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TET3 was added\ngene: TET3 was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: TET3 were set to PMID: 31928709\nPhenotypes for gene: TET3 were set to Beck-Fahrner syndrome\tMIM#618798\nReview for gene: TET3 was set to AMBER\nAdded comment: PMID: 31928709 - 11 cases in 8 families.\r\n3/11 had true macrocephaly (>2 SD above), 1/11 had borderline and relative macrocephaly. \r\nOf the three with true macrocephaly, 1/3 had AR disease accompanied by tall stature, 2/3 had AD de novo variants. The borderline and relative macrocephaly patient was also for AD disease\r\n\r\nHowever 2/11 patients (siblings) had microcephaly \nSources: Literature",
"entity_name": "TET3",
"entity_type": "gene"
},
{
"created": "2022-03-15T10:23:53.596578+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11360",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf57 were changed from to Temtamy syndrome MIM#218340",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-03-15T10:23:45.669404+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11359",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C12orf57 were set to ",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-03-15T10:23:27.357613+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11359",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C12orf57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-03-15T10:23:10.529623+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11358",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: None; Publications: 29383837, 31853307; Phenotypes: Temtamy syndrome MIM#218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-03-15T10:15:07.788659+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4567",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf4 were changed from to Intellectual developmental disorder, autosomal recessive 66 MIM#618221",
"entity_name": "C12orf4",
"entity_type": "gene"
}
]
}