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{
"count": 221342,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=576",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=574",
"results": [
{
"created": "2023-07-25T18:24:31.291798+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPATCH11 as ready",
"entity_name": "GPATCH11",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:24:31.276836+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpatch11 has been classified as Green List (High Evidence).",
"entity_name": "GPATCH11",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:24:21.735144+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPATCH11 were changed from Leber congenital amaurosis and developmental delay to Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related; Leber congenital amaurosis and developmental delay",
"entity_name": "GPATCH11",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:22:04.178494+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNA3 as ready",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:22:04.160959+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna3 has been classified as Green List (High Evidence).",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:21:49.132846+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNA3 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, KCNA3-related",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:21:09.484733+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNA3 as ready",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:21:09.474297+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna3 has been classified as Green List (High Evidence).",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:21:06.630282+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNA3 were changed from Neurodevelopmental disorder with epilepsy to Neurodevelopmental disorder, MONDO:0700092, KCNA3-related",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:20:15.193435+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNA3 as ready",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:20:15.184453+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna3 has been classified as Green List (High Evidence).",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:20:06.645808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNA3 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, KCNA3-related",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:18:04.443854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FSD1L as ready",
"entity_name": "FSD1L",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:18:04.433025+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fsd1l has been classified as Green List (High Evidence).",
"entity_name": "FSD1L",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:17:54.999808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FSD1L were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, FSD1L-related",
"entity_name": "FSD1L",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:17:24.840695+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FSD1L as ready",
"entity_name": "FSD1L",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:17:24.827383+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fsd1l has been classified as Green List (High Evidence).",
"entity_name": "FSD1L",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:17:19.994089+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FSD1L were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, FSD1L-related",
"entity_name": "FSD1L",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:15:36.605842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DENND5B as ready",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:15:36.598545+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dennd5b has been classified as Green List (High Evidence).",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:15:27.947647+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DENND5B were changed from Neurodevelopmental disorder with white matter anomalies to Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:15:01.315558+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DENND5B as ready",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:15:01.303061+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dennd5b has been classified as Green List (High Evidence).",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:14:24.040693+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DENND5B were changed from Neurodevelopmental disorder with white matter anomalies to Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:13:40.580346+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DENND5B as ready",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:13:40.573212+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dennd5b has been classified as Green List (High Evidence).",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:13:32.854153+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DENND5B were changed from Neurodevelopmental disorder with white matter anomalies to Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:11:44.822209+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DMAP1 as ready",
"entity_name": "DMAP1",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:11:44.810981+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmap1 has been classified as Green List (High Evidence).",
"entity_name": "DMAP1",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:11:28.555925+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DMAP1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, DMAP1-related",
"entity_name": "DMAP1",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:10:41.954420+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DMAP1 as ready",
"entity_name": "DMAP1",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:10:41.942592+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmap1 has been classified as Green List (High Evidence).",
"entity_name": "DMAP1",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:10:28.385917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DMAP1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, DMAP1-related",
"entity_name": "DMAP1",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:09:18.571200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VGLL2 as ready",
"entity_name": "VGLL2",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:09:18.560033+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vgll2 has been classified as Green List (High Evidence).",
"entity_name": "VGLL2",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:09:10.458278+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VGLL2 were changed from Syngnathia to Syngnathia, MONDO:0015409, VGLL2-related",
"entity_name": "VGLL2",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:08:41.412474+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VGLL2 as ready",
"entity_name": "VGLL2",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:08:41.404379+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vgll2 has been classified as Green List (High Evidence).",
"entity_name": "VGLL2",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:08:38.500398+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VGLL2 were changed from Syngnathia to Syngnathia, MONDO:0015409, VGLL2-related",
"entity_name": "VGLL2",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:07:17.396365+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZIC1 as ready",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:07:17.387655+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic1 has been classified as Red List (Low Evidence).",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:05:32.421491+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A6 as Red List (low evidence)",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:05:32.413155+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a6 has been classified as Red List (Low Evidence).",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:05:19.856789+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COL4A6: Added comment: Further review of PMID:33840813;\r\n\r\nFamily A: \r\n- Proband is hemi for COL4A6 and het for GJB2. Mother is het for COL4A6\r\n- hypothesised that in the proband is more severe than the parents due to additive effects of his two variants however, mother's audiometric data was unavailable to confirm this.\r\n\r\nFamily B: \r\n- Variant does not segregate within family with the proband being WT in this gene\r\n- NM_001287758.1: c.3272G>C is the mutation however, it appears to be an annotation error as it corresponds to NC_000023.11:g.108171443 in GRCh38. At that position, the c. is T not G and the amino acid residue is Val, not Gly.\r\n\r\nIn addition, there is a missense affecting Gly of GXY in gnomad v3 with 38 hemis.; Changed rating: RED; Changed publications: 33840813; Changed phenotypes: Deafness, X-linked 6 MIM#300914; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:04:12.246141+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A6 as Amber List (moderate evidence)",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:04:12.229318+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:03:42.607662+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COL4A6: Changed rating: AMBER",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:03:34.769034+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COL4A6: Added comment: Further review of PMID:33840813\r\n\r\nFamily A: \r\n- Proband is hemi for COL4A6 and het for GJB2. Mother is het for COL4A6\r\n- hypothesised that in the proband is more severe than the parents due to additive effects of his two variants however, mother's audiometric data was unavailable to confirm this.\r\n\r\nFamily B: \r\n- Variant does not segregate within family with the proband being WT in this gene\r\n- NM_001287758.1: c.3272G>C is the mutation however, it appears to be an annotation error as it corresponds to NC_000023.11:g.108171443 in GRCh38. At that position, the c. is T not G and the amino acid residue is Val, not Gly.\r\n\r\nIn addition, there is a missense affecting Gly of GXY in gnomad v3 with 38 hemis.; Changed publications: 23714752, 33840813",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:02:32.612443+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A6 were set to 23714752; 12784310",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:01:54.244278+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A6 as Amber List (moderate evidence)",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2023-07-25T18:01:54.226146+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:59:57.573239+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCN2 were changed from Febrile seizures, familial, 2, MIM# 602477; Genetic epilepsy with febrile seizures plus; Other seizure disorders to Febrile seizures, familial, 2, MIM# 602477; Genetic epilepsy with febrile seizures plus; Other seizure disorders; Neurodevelopmental disorder (MONDO#0700092), HCN2-related",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:59:28.946034+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HCN2: Added comment: ICG congress 2023: cohort presented with ID as key feature.; Changed phenotypes: Febrile seizures, familial, 2, MIM# 602477, Genetic epilepsy with febrile seizures plus, Other seizure disorders, Neurodevelopmental disorder (MONDO#0700092), HCN2-related",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:58:44.853829+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCN2 as ready",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:58:44.845940+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:58:33.172823+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCN2 were changed from Febrile seizures, familial, 2 MIM#602477; Generalized epilepsy with febrile seizures plus, type 11 MIM#602477; {Epilepsy, idiopathic generalized, susceptibility to, 17}\tMIM#602477; Neurodevelopmental disorder (MONDO#0700092), HCN2-related to Neurodevelopmental disorder (MONDO#0700092), HCN2-related",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:57:51.785791+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HCN2 as Amber List (moderate evidence)",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:57:51.767187+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:56:37.294528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC4A3 were set to PMID: 29167417; 34557911",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:56:10.029225+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC4A3 as Green List (high evidence)",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:56:10.019810+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc4a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:54:34.551750+10:00",
"panel_name": "Short QT syndrome",
"panel_id": 174,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC4A3 were set to PMID: 29167417; 34557911",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:53:56.051916+10:00",
"panel_name": "Short QT syndrome",
"panel_id": 174,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC4A3 as Green List (high evidence)",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:53:56.040098+10:00",
"panel_name": "Short QT syndrome",
"panel_id": 174,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc4a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:51:03.304636+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOCS1 as ready",
"entity_name": "SOCS1",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:51:03.291277+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: socs1 has been classified as Green List (High Evidence).",
"entity_name": "SOCS1",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:50:51.963191+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOCS1 were changed from Enteropathy to Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375; Enteropathy",
"entity_name": "SOCS1",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:50:22.394873+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOCS1 as Green List (high evidence)",
"entity_name": "SOCS1",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:50:22.386699+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: socs1 has been classified as Green List (High Evidence).",
"entity_name": "SOCS1",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:48:18.187318+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLCG1 as ready",
"entity_name": "PLCG1",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:48:18.179150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLCG1",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:48:07.336572+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLCG1 as Amber List (moderate evidence)",
"entity_name": "PLCG1",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:48:07.323209+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLCG1",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:47:49.842077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLCG1 was added\ngene: PLCG1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: PLCG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLCG1 were set to 37422272\nPhenotypes for gene: PLCG1 were set to Autoinflammatory syndrome, MONDO:0019751, PLCG1-related; Immune dysregulation\nMode of pathogenicity for gene: PLCG1 was set to Other\nReview for gene: PLCG1 was set to AMBER\nAdded comment: Single 7yo proband presented with thrombocytopaenia and lymphadenopathy. De Novo , c.3062C>T, p.S1021F with functional testing supportive of GOF mechanism of disease \nSources: Expert Review",
"entity_name": "PLCG1",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:47:09.791109+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLCG1 as ready",
"entity_name": "PLCG1",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:47:09.779682+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLCG1",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:45:43.243461+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCG1 were changed from Immune dysregulation to Autoinflammatory syndrome, MONDO:0019751, PLCG1-related; Immune dysregulation",
"entity_name": "PLCG1",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:44:47.987871+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLCG1 as Amber List (moderate evidence)",
"entity_name": "PLCG1",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:44:47.976294+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLCG1",
"entity_type": "gene"
},
{
"created": "2023-07-25T17:01:53.091534+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.133",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: PRUNE1 was added\ngene: PRUNE1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRUNE1 were set to 33528536; 35379233\nPhenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies\tMIM#617481\nReview for gene: PRUNE1 was set to GREEN\nAdded comment: Case report of one consanguineous Iranian family with two children affected with spastic quadriplegic CP and a homozygous start loss of PRUNE1. The children also showed hypotonia and cerebellar atrophy. In addition, two additional cases in one large CP cohort study, one with homozygous mutation the other with compound heterozygous mutation/deletion. \nSources: Literature",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:53:02.763504+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.133",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31700678, 20187890, 34531397; Phenotypes: Thrombophilia 3 due to protein C deficiency MIM#176860, Thrombophilia 3 due to protein C deficiency MIM#612304; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:48:06.284885+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTI1 were changed from Neurodevelopmental disorder, MONDO:0700092, TTI1-related to Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:47:46.039877+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTI1 were set to ",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:47:20.118047+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TTI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36724785; Phenotypes: Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:46:42.486508+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTI1 were changed from Neurodevelopmental disorder, MONDO:0700092, TTI1-related to Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM#\t620445",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:46:08.553329+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTI1 were set to 26539891; 30315573",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:45:10.994979+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTI1 were set to DOI:https://doi.org/10.1016/j.ajhg.2023.01.006",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:44:37.288504+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TTI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36724785; Phenotypes: Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:44:15.066518+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTI1 were changed from Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 to Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:43:56.695689+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTI1 were changed from Neurodevelopmental disorder, MONDO:0700092, TTI1-related to to Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:43:00.755151+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTI1 were changed from Neurodevelopmental disorder, MONDO:0700092, TTI1-related to Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM#\t620445",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:39:36.995861+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCAF15 as ready",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:39:36.985593+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcaf15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:39:33.262420+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCAF15 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:39:14.896980+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCAF15 as ready",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:39:14.886345+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcaf15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:39:11.604998+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCAF15 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:38:53.891873+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCAF15 as ready",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:38:53.881172+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcaf15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T16:38:48.130915+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCAF15 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related",
"entity_name": "DCAF15",
"entity_type": "gene"
}
]
}