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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=515",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=513",
"results": [
{
"created": "2023-11-24T13:23:38.744714+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STRA6 were changed from to Microphthalmia, syndromic 9, MIM# 601186",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2023-11-24T13:23:08.391998+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STRA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2023-11-24T13:22:21.512221+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microphthalmia, syndromic 9, MIM# 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2023-11-24T13:21:27.711753+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX20 as ready",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2023-11-24T13:21:27.698861+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx20 has been classified as Green List (High Evidence).",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2023-11-24T13:21:25.382351+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX20 were changed from to Atrial septal defect 4, MIM# 611363",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2023-11-24T13:20:56.993958+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX20 were set to ",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2023-11-24T13:20:26.729472+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBX20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2023-11-24T13:19:57.053547+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: None; Publications: 17668378, 19762328, 33585493, 29089047; Phenotypes: Atrial septal defect 4, MIM# 611363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2023-11-24T13:18:43.563644+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX5 as ready",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2023-11-24T13:18:43.549541+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx5 has been classified as Green List (High Evidence).",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2023-11-24T13:18:35.220571+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX5 were changed from to Holt-Oram syndrome, MIM# 142900",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2023-11-24T13:18:06.157662+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2023-11-24T13:17:37.370822+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Holt-Oram syndrome, MIM# 142900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2023-11-24T13:16:46.983864+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFBR1 as ready",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2023-11-24T13:16:46.973765+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfbr1 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2023-11-24T13:16:44.455616+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFBR1 were changed from to Loeys-Dietz syndrome 1, MIM# 609192",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2023-11-24T13:16:15.393207+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2023-11-24T13:15:45.532001+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2023-11-24T12:58:01.737945+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.51",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "reviewed gene: RELB: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36402602; Phenotypes: Complex autoimmunity; Mode of inheritance: None",
"entity_name": "RELB",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:59:10.591035+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFBR2 as ready",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:59:10.579916+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfbr2 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:59:07.916826+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFBR2 were changed from to Loeys-Dietz syndrome 2, MIM# 610168",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:58:37.917961+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:58:09.138156+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 2, MIM# 610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:56:37.319904+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZIC3 as ready",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:56:37.308611+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic3 has been classified as Green List (High Evidence).",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:56:33.717127+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZIC3 were changed from to Heterotaxy, visceral, 1, X-linked (MIM#306955)",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:56:04.888812+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZIC3 were set to ",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:55:33.549335+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZIC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:55:03.354744+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27406248, 30120289; Phenotypes: Heterotaxy, visceral, 1, X-linked (MIM#306955); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:34:31.567901+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MESP1 were changed from Congenital heart disease, MONDO:0005453, MESP1-related to Congenital heart disease, MONDO:0005453, MESP1-related",
"entity_name": "MESP1",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:34:11.906036+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MESP1 were changed from Congenital heart disease to Congenital heart disease, MONDO:0005453, MESP1-related",
"entity_name": "MESP1",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:30:27.633104+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXH1 were changed from Congenital heart disease to Congenital heart disease, MONDO:0005453, FOXH1-related",
"entity_name": "FOXH1",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:26:44.471922+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACVR2B as ready",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:26:44.456261+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acvr2b has been classified as Red List (Low Evidence).",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:25:03.377870+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR2F2 as ready",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:25:03.366855+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2f2 has been classified as Green List (High Evidence).",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:25:00.521828+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR2F2 were changed from to 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:24:22.698289+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR2F2 were set to ",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:23:51.607965+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR2F2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:21:10.778524+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDR were changed from Pulmonary hypertension; Haemangioma, capillary infantile, somatic 602089 to Pulmonary hypertension; Haemangioma, capillary infantile, somatic 602089; Tetralogy of Fallot, MONDO:0008542",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:20:44.209365+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:20:23.378185+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KDR: Added comment: PMID 34113005: Exome sequencing in a family with two siblings affected by ToF revealed biallelic missense variants in KDR. Studies in knock-in mice and in HEK 293T cells identified embryonic lethality for one variant when occurring in the homozygous state, and a significantly reduced VEGFR2 phosphorylation for both variants.\r\n\r\nRare variant burden analysis conducted in a set of 1,569 patients of European descent with ToF identified a 46-fold enrichment of protein-truncating variants (PTVs) in TOF cases compared to controls (P = 7 × 10-11). At this stage MOI unclear and insufficient evidence for either MOI.; Changed publications: 31980491, 29650961, 18931684, 34113005; Changed phenotypes: Pulmonary hypertension, Haemangioma, capillary infantile, somatic 602089, Tetralogy of Fallot, MONDO:0008542; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:16:26.269184+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:14:52.395580+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDR as Amber List (moderate evidence)",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:14:52.384727+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdr has been classified as Amber List (Moderate Evidence).",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:14:19.681332+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KDR: Added comment: PMID 34113005: Exome sequencing in a family with two siblings affected by ToF revealed biallelic missense variants in KDR. Studies in knock-in mice and in HEK 293T cells identified embryonic lethality for one variant when occurring in the homozygous state, and a significantly reduced VEGFR2 phosphorylation for both variants.\r\n\r\nRare variant burden analysis conducted in a set of 1,569 patients of European descent with ToF identified a 46-fold enrichment of protein-truncating variants (PTVs) in TOF cases compared to controls (P = 7 × 10-11).\r\n\r\nAt this stage MOI unclear and insufficient evidence for either MOI.; Changed rating: AMBER; Changed publications: 34113005; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:09:40.673263+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOT1L as ready",
"entity_name": "DOT1L",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:09:40.663049+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dot1l has been classified as Green List (High Evidence).",
"entity_name": "DOT1L",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:09:28.387046+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DOT1L as Green List (high evidence)",
"entity_name": "DOT1L",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:09:28.374093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dot1l has been classified as Green List (High Evidence).",
"entity_name": "DOT1L",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:09:08.905985+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOT1L was added\ngene: DOT1L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DOT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DOT1L were set to 37827158\nPhenotypes for gene: DOT1L were set to Neurodevelopmental disorder, MONDO:0700092, DOT1L-related\nMode of pathogenicity for gene: DOT1L was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: DOT1L was set to GREEN\nAdded comment: Nine individuals reported with seven de novo missense variants.\r\n\r\nAll had DD/ID and variable patterns of associated congenital anomalies.\r\n\r\nVariants demonstrated to be GoF and lead to increased H3K79 methylation levels in flies and human cells. \nSources: Literature",
"entity_name": "DOT1L",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:07:22.971330+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOT1L as ready",
"entity_name": "DOT1L",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:07:22.959695+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dot1l has been classified as Green List (High Evidence).",
"entity_name": "DOT1L",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:07:15.886588+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DOT1L as Green List (high evidence)",
"entity_name": "DOT1L",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:07:15.873141+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dot1l has been classified as Green List (High Evidence).",
"entity_name": "DOT1L",
"entity_type": "gene"
},
{
"created": "2023-11-24T11:06:42.812752+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOT1L was added\ngene: DOT1L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: DOT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DOT1L were set to 37827158\nPhenotypes for gene: DOT1L were set to Neurodevelopmental disorder, MONDO:0700092, DOT1L-related\nMode of pathogenicity for gene: DOT1L was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: DOT1L was set to GREEN\nAdded comment: Nine individuals reported with seven de novo missense variants.\r\n\r\nAll had DD/ID and variable patterns of associated congenital anomalies.\r\n\r\nVariants demonstrated to be GoF and lead to increased H3K79 methylation levels in flies and human cells. \nSources: Literature",
"entity_name": "DOT1L",
"entity_type": "gene"
},
{
"created": "2023-11-23T16:24:07.449947+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNC119 as Amber List (moderate evidence)",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2023-11-23T16:24:07.432138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc119 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2023-11-23T16:23:46.068647+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Immunodeficiency 13: Single case reported with the missense Gly22Val. The allele frequency of this variant is >2% in the African/African American subpopulation in gnomAD v2.1, including 6 homozygotes. RED for this association.\r\n\r\nBorderline Green for association with cone-rod dystrophy.; to: Immunodeficiency 13: Single case reported with the missense Gly22Val. The allele frequency of this variant is >2% in the African/African American subpopulation in gnomAD v2.1, including 6 homozygotes. RED for this association.\r\n\r\nCone-rod dystrophy: one of the reported variants is missense with no other supporting evidence.",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2023-11-23T16:23:15.393407+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UNC119: Changed rating: AMBER",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2023-11-23T16:22:56.180204+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC119 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2023-11-23T16:22:48.235469+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNC119 as Amber List (moderate evidence)",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2023-11-23T16:22:48.209484+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc119 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2023-11-23T16:22:38.168880+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UNC119: Added comment: One of the variants reported is missense with no other supporting information.; Changed rating: AMBER",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2023-11-23T15:02:07.674028+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1947",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "gene: TRMT10A was added\ngene: TRMT10A was added to Genetic Epilepsy. Sources: Literature,Expert Review,Expert list\nMode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRMT10A were set to 26535115; 4995728\nPhenotypes for gene: TRMT10A were set to microcephaly; diabetes; intellectual disability; epilepsy\nPenetrance for gene: TRMT10A were set to unknown\nReview for gene: TRMT10A was set to GREEN\ngene: TRMT10A was marked as current diagnostic\nAdded comment: Epilepsy is reported with cortical malformations, or due to glycaemic control issues but also at varying ages without malformations or low/high blood sugar. \nSources: Literature, Expert Review, Expert list",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2023-11-23T12:58:52.199864+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MECR: Changed phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282, MONDO:0015003, Optic atrophy 16, MIM# 620629",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2023-11-23T12:58:16.293514+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MECR were changed from Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282; MONDO:0015003 to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282; MONDO:0015003; Optic atrophy 16, MIM# 620629",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2023-11-23T12:57:48.284572+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MECR: Changed phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282, MONDO:0015003, Optic atrophy 16, MIM# 620629",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2023-11-23T12:56:35.991995+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MECR were changed from Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities to Optic atrophy 16, MIM# 620629",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2023-11-23T12:55:53.653945+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy 16, MIM# 620629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2023-11-22T18:40:18.294521+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.367",
"user_name": "Violeta Velkoska-Ivanova",
"item_type": "entity",
"text": "changed review comment from: There is insufficient evidence in the published data to rate this gene as green in the context of congenital heart disease. The supporting evidence for rating this gene AMBER is as follows:\r\n No heart abnormalities were noted in the two KMT2B-associated disease phenotypes listed in OMIM ( both reviewed in 2022).\r\n The GenCC database( https://thegencc.org/) has summarised evidence from four reputable submitters: Genomic England Panel App, ClinGen, Ambry Genetics and Orphanet). Three classifications (two supportive, one strong) implicate KMT2B in two diseases: Dystonia,28, childhood-onset (MONDO:0015004; OMIM: 617284) and Complex Neurodevelopmental Disorder with Motor features (MONDO: 0100516) where the KMT2B variations are inherited in autosomal dominant mode.\r\n The ClinGen evaluation (The Clinical Genome Resource), with ten variants (missense, nonsense, and frameshift) being reported in 10 probands in 2 publications (PMIDs: 29276005, 33150406) and also in a non-human animal model (PMID: 23426673) provides definitive evidence for the KMT2B gene relationship with autosomal dominant, Complex Neurodevelopmental Disorder with Motor features (MONDO: 0100516). Regarding dosage sensitivity, there is sufficient evidence that this gene exhibits haploinsufficiency and is intolerant to LoF variation. \r\nThe G2P database (https://www.ebi.ac.uk/gene2phenotype/) lists the KMT2B-associated complex early-onset dystonia in the Developmental Delay panel. Also, the KMT2B is absent from the Cardiac G2P, a publicly available resource designed for filtering and analysing genetic variants of inherited cardiac conditions (ICC)(PMID 37872640). \r\n The largest cohort with KMT2B variants (133 patients: 53 as the initial study cohort in addition to 80 published cases)(PMID:33150406) provides a detailed delineation of their clinical phenotype and molecular genetic features. Although this study emphasised that patients with chromosomal deletions and protein-truncating variants had a significantly higher burden of systemic disease (with earlier onset of dystonia) than those with missense variants, it reported on new disease features ( i.e. atypical patterns of dystonia evolution and a subgroup of patients with a non-dystonic neurodevelopmental phenotype). It also identified co-morbidities ( i.e. risk of status dystonicus, intrauterine growth retardation, and endocrinopathies); however, it failed to associate the KMT2B gene with congenital abnormalities of the heart.\r\n; to: There is insufficient evidence in the published data to rate this gene as green in the context of congenital heart disease. The supporting evidence for rating this gene AMBER is as follows:\r\n No heart abnormalities were noted in the two KMT2B-associated disease phenotypes listed in OMIM ( both reviewed in 2022).\r\n The GenCC database( https://thegencc.org/) has summarised evidence from four reputable submitters: Genomic England Panel App, ClinGen, Ambry Genetics and Orphanet). Three classifications (two supportive, one strong) implicate KMT2B in two diseases: Dystonia,28, childhood-onset (MONDO:0015004; OMIM: 617284) and Complex Neurodevelopmental Disorder with Motor features (MONDO: 0100516) where the KMT2B variations are inherited in autosomal dominant mode.\r\n The ClinGen evaluation (The Clinical Genome Resource), with ten variants (missense, nonsense, and frameshift) being reported in 10 probands in 2 publications (PMIDs: 29276005, 33150406) and also in a non-human animal model (PMID: 23426673) provides definitive evidence for the KMT2B gene relationship with autosomal dominant, Complex Neurodevelopmental Disorder with Motor features (MONDO: 0100516). Regarding dosage sensitivity, there is sufficient evidence that this gene exhibits haploinsufficiency and is intolerant to LoF variation. \r\nThe G2P database (https://www.ebi.ac.uk/gene2phenotype/) lists the KMT2B-associated complex early-onset dystonia in the Developmental Delay panel whose scope is\" severe undiagnosed neurodevelopmental disorder and/or congenital anomalies, abnormal growth parameters, dysmorphic features and unusual behavioural phenotypes\" and as such is part of the DD2P panel in Panel App England. Also, the KMT2B is absent from the Cardiac G2P, a publicly available resource designed for filtering and analysing genetic variants of inherited cardiac conditions (ICC)(PMID 37872640). \r\n The largest cohort of 133 patients with KMT2B variants (PMID:33150406) delineates their clinical phenotype and molecular genetic features. Although this study emphasised that patients with chromosomal deletions and protein-truncating variants had a significantly higher burden of systemic disease (with earlier onset of dystonia) than those with missense variants, it reported on new disease features ( i.e. atypical patterns of dystonia evolution and a subgroup of patients with a non-dystonic neurodevelopmental phenotype). It also identified co-morbidities ( i.e. risk of status dystonicus, intrauterine growth retardation, and endocrinopathies); however, it failed to associate the KMT2B gene with congenital abnormalities of the heart.\r\nHowever, the following evidence may be considered when upgrading the KMT2B gene to Green:\r\nKMT2B methyltransferase is a family of histone-modifying enzymes (KMTs) that catalyse the methylation of lysine 4 of the Histone 3 protein and regulate transcriptional activity at the chromatin level. As methylation is critical in transcriptional changes occurring during development, it is not unexpected that deregulated methylation marks are found in developmental disorders, human aging, and cancer. A range of neurodevelopmental disorders is caused by pathogenic variants in genes regulating chromatin function and structure that display abnormal DNA methylation patterns (episignatures) in peripheral blood. Similarly, deregulation of histone lysine methylation, essential during cardiac development, is associated with cardiac disease. ( 35506254)\r\nA recent review states that the known KMT2B paralogs (Gene Cards), KMT2A, KMT2C and KMT2D exhibit regulatory roles during heart development or disease (as defined by supporting data from multiple model systems and /or by disease association. (37504561). \r\nOne such example is the KMT2D gene that confusingly shares the same alternate name as KMT2B- MLL2 despite the different genomic locations of both genes and other differences. Molecular rearrangements of KMT2D are associated with Kabuki Syndrome 1(KS) (OMIM: 147920) where, in addition to neurodevelopmental presentation, congenital heart defect, ventricular and atrial septal defect are also part of the phenotypic spectrum.\r\nComparison of the methylation patterns in peripheral blood from patients with KMT2-dystonia, KMT2-Kabuki Syndrome and controls showed that most DNA regions with altered methylation patterns differ between these two disorders and controls with KMT2B being hypermethylated. The KMT2B is unique among ’chromatin neurodevelopmental disorders’ genes as its most prominent clinical feature is childhood-onset dystonia rather than developmental delay or congenital anomalies. (PMID:35506254).\r\nThe KMT2B paralogs, KMT2A and KMT2D supported by patient phenotypic presentation and likely valid functional evidence in animal models have been investigated thus far as candidate genes in genomic sequencing studies of cardiac disease, including those for patients with congenital heart defect (PMID3378394;25972376;28884922). Thus far, the function of KMT2B in the context of congenital heart disease is yet to be phenotypically confirmed and recapitulated through further research.\r\n\r\n",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-11-22T16:09:50.676274+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMG9 as ready",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2023-11-22T16:09:50.654130+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smg9 has been classified as Green List (High Evidence).",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2023-11-22T16:09:47.384313+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMG9 were changed from to Heart and brain malformation syndrome, MIM# 616920",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2023-11-22T16:08:47.132386+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMG9 were set to 27018474",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2023-11-22T16:08:08.987123+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMG9 was changed from Other to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2023-11-22T16:07:40.864291+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMG9 as Green List (high evidence)",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2023-11-22T16:07:40.854289+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smg9 has been classified as Green List (High Evidence).",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2023-11-22T16:06:47.648322+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMG9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Heart and brain malformation syndrome, MIM# 616920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2023-11-22T16:04:04.793211+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TXNL4A as ready",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2023-11-22T16:04:04.780415+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: txnl4a has been classified as Green List (High Evidence).",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2023-11-22T16:03:56.239227+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TXNL4A as Green List (high evidence)",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2023-11-22T16:03:56.229701+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: txnl4a has been classified as Green List (High Evidence).",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2023-11-22T16:03:13.459498+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: TXNL4A.\nTag UTR tag was added to gene: TXNL4A.",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2023-11-22T16:02:18.269149+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Burn-McKeown syndrome - MIM#608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2023-11-22T16:00:21.019041+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WASHC5 as ready",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2023-11-22T16:00:20.996997+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: washc5 has been classified as Green List (High Evidence).",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2023-11-22T16:00:06.562797+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WASHC5 as Green List (high evidence)",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2023-11-22T16:00:06.540559+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: washc5 has been classified as Green List (High Evidence).",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2023-11-22T15:59:19.161184+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ritscher-Schinzel syndrome 1, MIM# 220210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2023-11-22T15:55:49.573603+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGL as ready",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2023-11-22T15:55:49.564556+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigl has been classified as Green List (High Evidence).",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2023-11-22T15:55:43.312174+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGL as Green List (high evidence)",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2023-11-22T15:55:43.290553+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigl has been classified as Green List (High Evidence).",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2023-11-22T15:55:13.188840+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGL were set to ",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2023-11-22T15:54:43.390501+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGL were changed from to CHIME syndrome, MIIM#\t280000",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2023-11-22T15:31:19.312392+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGV as ready",
"entity_name": "PIGV",
"entity_type": "gene"
},
{
"created": "2023-11-22T15:31:19.297159+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigv has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIGV",
"entity_type": "gene"
}
]
}