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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=410",
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"results": [
{
"created": "2024-08-08T12:34:05.082812+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATR were changed from Seckel syndrome 1, 210600 (3) to Seckel syndrome 1(MIM#210600)",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:33:55.386268+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATR were set to ",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:33:21.005595+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP8A2 as ready",
"entity_name": "ATP8A2",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:33:20.986880+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp8a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP8A2",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:33:13.265837+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP8A2 were changed from ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 to Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (MIM#615268)",
"entity_name": "ATP8A2",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:33:03.100941+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP8A2 were set to ",
"entity_name": "ATP8A2",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:32:39.227281+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCA3 as ready",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:32:39.213878+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca3 has been classified as Green List (High Evidence).",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:29:03.100845+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCA3 were set to ",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:28:38.790328+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAR as ready",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:28:38.774292+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adar has been classified as Green List (High Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:24:01.615456+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC1I2 as ready",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:24:01.608303+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Ready to be promoted to Green at next version.",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:24:01.548701+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync1i2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:22:06.466081+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTSC as ready",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:22:06.451799+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsc has been classified as Green List (High Evidence).",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:22:02.107860+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTSC were changed from Papillon-Lefevre syndrome, 245000 (3) to Haim-Munk syndrome MIM#245010; Papillon-Lefevre syndrome MIM#245000",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:21:44.220844+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTSC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Haim-Munk syndrome MIM#245010, Papillon-Lefevre syndrome MIM#245000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:19:03.688667+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CERKL as ready",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:19:03.678282+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cerkl has been classified as Amber List (Moderate Evidence).",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:18:12.363901+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: CERKL.",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:16:33.962079+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.88",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: RMRP as ready",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:16:33.952436+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.88",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: A range of phenotypes from mild skeletal dysplasia to a severe (anauxetic dysplasia), there is not a clear genotype phenotype correlation, however loss of function variants are more often reported in the severe phenotypes",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:16:33.895949+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.88",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: rmrp has been classified as Green List (High Evidence).",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:15:28.982336+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.88",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: RMRP were set to ",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:06:05.029558+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.87",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CCDC103 as ready",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:06:05.018928+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.87",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: ccdc103 has been classified as Green List (High Evidence).",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2024-08-08T12:00:44.026137+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.87",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CCDC103 were set to ",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2024-08-08T11:58:45.970906+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.86",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: AKR1D1 as ready",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2024-08-08T11:58:45.950746+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.86",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: akr1d1 has been classified as Green List (High Evidence).",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2024-08-08T11:58:41.361393+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.86",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: AKR1D1 were set to ",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2024-08-08T11:57:57.843628+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.85",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: AMT as ready",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2024-08-08T11:57:57.825664+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.85",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: amt has been classified as Green List (High Evidence).",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2024-08-08T11:57:52.538407+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.85",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: AMT were set to ",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2024-08-08T11:57:28.611695+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.84",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: AMT: Rating: ; Mode of pathogenicity: None; Publications: PMID: 16450403,; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2024-08-08T11:56:42.769960+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZSCAN10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Otofacial neurodevelopmental syndrome, MIM# 620910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZSCAN10",
"entity_type": "gene"
},
{
"created": "2024-08-08T11:56:23.084082+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZSCAN10 were changed from Syndromic disease MONDO:0002254 to Otofacial neurodevelopmental syndrome, MIM# 620910",
"entity_name": "ZSCAN10",
"entity_type": "gene"
},
{
"created": "2024-08-08T11:55:41.837848+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZSCAN10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Otofacial neurodevelopmental syndrome, MIM# 620910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZSCAN10",
"entity_type": "gene"
},
{
"created": "2024-08-08T11:55:21.293612+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZSCAN10 were changed from syndromic disease MONDO:0002254 to Otofacial neurodevelopmental syndrome, MIM# 620910",
"entity_name": "ZSCAN10",
"entity_type": "gene"
},
{
"created": "2024-08-08T11:54:52.812857+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZSCAN10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Otofacial neurodevelopmental syndrome, MIM# 620910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZSCAN10",
"entity_type": "gene"
},
{
"created": "2024-08-08T11:16:05.990012+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.84",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ALG9 as ready",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2024-08-08T11:16:05.974923+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.84",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: alg9 has been classified as Green List (High Evidence).",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2024-08-08T11:15:51.692061+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.84",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ALG9 were set to ",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2024-08-08T11:14:18.823155+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.83",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ATOH7 as ready",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2024-08-08T11:14:18.807364+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.83",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: atoh7 has been classified as Green List (High Evidence).",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2024-08-08T11:14:07.315620+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.83",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ATOH7 were set to ",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2024-08-08T10:10:44.987215+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.44",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: TGFBR2 were set to 30071989; 27879313",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2024-08-08T10:10:36.877932+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.43",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: TGFBR2: Changed publications: 32897753, 35092149, 36103205; Changed phenotypes: Loeys-Dietz syndrome 2 MIM#610168",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2024-08-08T10:10:15.229423+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.43",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: \"Definitive\" by ClinGen Aortopathy working group.\r\n\r\nReviewed in PMID 27879313 (265 cases with variants in TGFBR2). \nSources: Literature; to: PMID: 32897753\r\n3x individuals with 2x missense and 1x +5G splice\r\nboth missense variants are absent in gnomad v4\r\nreported SCADs: circumflex coronary artery, right descending posterior coronary artery and cervico-cephalic aneurysm and arterial dissection\r\n\r\nPMID: 35092149\r\n2x individuals from a SCAD cohort, however both without variant information \r\n\r\nPMID: 36103205\r\n3x SCAD individuals with 2x missense variants\r\np.Val387Leu has 569 hets + 1 hom in gnomad v4\r\np.Ala531Thr has 3 hets\r\n\r\n\r\nSources: Literature",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2024-08-08T09:54:11.212595+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.43",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: TGFBR1 were set to 36584339; 30071989; 27879313",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2024-08-08T09:54:05.123642+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.42",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: TGFBR1 as Amber List (moderate evidence)",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2024-08-08T09:54:05.107044+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.42",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tgfbr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2024-08-08T09:53:58.100655+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.41",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: TGFBR1: Changed rating: AMBER; Changed publications: 35092149, 36103205; Changed phenotypes: Loeys-Dietz syndrome 1 MIM#609192",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2024-08-08T09:53:42.916706+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.41",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: \"Definitive\" by ClinGen Aortopathy working group.\r\n\r\nReviewed in PMID 27879313 (176 cases with variants in TGFBR1).\r\n\r\nAMBER for AR disease: PMID 36584339\r\nBiallelic variants reported in a single family with two sibs. Presented with severe dilatation of aorta, diaphragmatic hernia, skin translucency, and profound joint laxity at birth \nSources: Radboud University Medical Center, Nijmegen; to: PMID: 35092149\r\n1x individual with SCAD, the missense has 3 hets in gnomad v4\r\n\r\nPMID: 36103205\r\n1x individual with R-SCAD and fhx, however the missense has 60 hets in gnomad v4\r\n\r\nAmber so as to not miss a diagnosis",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2024-08-08T09:22:55.230502+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.41",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: TGFB3 were set to 30071989; 25835445",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2024-08-08T09:22:47.810579+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.40",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: TGFB3: Changed publications: 32897753",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2024-08-08T09:22:41.825111+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.40",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Uncertain for isolated aneurysm, but causes broader connective tissue disorder phenotype. 43 patients from 11 reported with significant cardiovascular involvement, including thoracic/abdominal aortic aneurysm and dissection, and mitral valve disease. Other systemic features overlapped clinically with Loeys-Dietz, Shprintzen-Goldberg, and Marfan syndromes, including cleft palate, bifid uvula, skeletal overgrowth, cervical spine instability and clubfoot deformity \nSources: Literature; to: PMID: 32897753\r\n4x individuals with missense, however only 3x with personal history of SCAD\r\n\r\n\r\nSources: Literature",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2024-08-08T09:01:12.285410+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.40",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: TGFB2 were set to 30071989; 22772371",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2024-08-08T09:01:00.681413+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.39",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: TGFB2: Changed publications: 33125268, 36103205; Changed phenotypes: Loeys-Dietz syndrome 4 MIM#614816",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2024-08-08T08:38:53.127130+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.39",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: \r\nPMID: 33125268:\r\n2x missense in SCAD individuals\r\n\r\nPMID: 36103205\r\n3x individuals with missense, however no personal history of SCAD, only fam history\r\n\r\nborderline amber/green\r\n\r\nSources: Literature; to: \r\nPMID: 33125268:\r\n2x missense in SCAD individuals\r\n\r\nPMID: 36103205\r\n1x individual with missense and peripartum SCAD\r\n\r\n\r\nSources: Literature",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2024-08-08T08:31:33.231499+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.39",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: \"Definitive\" by ClinGen Aortopathy Working Group.\r\n\r\nPMID: 22772371: 4 families \nSources: Literature; to: \r\nPMID: 33125268:\r\n2x missense in SCAD individuals\r\n\r\nPMID: 36103205\r\n3x individuals with missense, however no personal history of SCAD, only fam history\r\n\r\nborderline amber/green\r\n\r\nSources: Literature",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2024-08-08T08:01:51.614006+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ8A as ready",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2024-08-08T08:01:51.587129+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq8a has been classified as Green List (High Evidence).",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2024-08-08T08:01:47.312951+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ8A were changed from to coenzyme Q10 deficiency MONDO:0018151",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2024-08-08T08:01:11.494369+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ8A were set to ",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2024-08-08T08:00:33.771061+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:59:43.396839+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTDP1 as ready",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:59:43.357680+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctdp1 has been classified as Green List (High Evidence).",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:59:38.904685+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTDP1 were changed from to congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0011402",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:59:03.266961+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTDP1 were set to ",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:58:28.393974+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:57:39.558967+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTSA as ready",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:57:39.547959+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsa has been classified as Green List (High Evidence).",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:57:35.710580+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTSA were changed from to Galactosialidosis MONDO:0009737",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:55:28.914911+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTSA were set to ",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:54:52.381115+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:54:01.440822+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTSD as ready",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:54:01.425337+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsd has been classified as Green List (High Evidence).",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:53:57.310715+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTSD were changed from to neuronal ceroid lipofuscinosis MONDO:0016295",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:53:16.608987+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTSD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:52:00.521521+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYB5R3 as ready",
"entity_name": "CYB5R3",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:52:00.506536+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyb5r3 has been classified as Green List (High Evidence).",
"entity_name": "CYB5R3",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:51:29.074337+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYB5R3 were changed from to Methemoglobinemia MONDO:0001117",
"entity_name": "CYB5R3",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:50:54.336555+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYB5R3 were set to ",
"entity_name": "CYB5R3",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:49:29.983485+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYB5R3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYB5R3",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:47:50.708430+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX9 as ready",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:47:50.686608+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:47:44.763499+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX9 were changed from to campomelic dysplasia MONDO:0007251",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:47:09.250797+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX9 were set to ",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:46:29.059138+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:45:43.455423+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX9 as Amber List (moderate evidence)",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:45:43.442283+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:45:08.198118+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Agree ID typically not part of the phenotype. Note reports of milder cases and DD/ID reported in some survivors, therefore downgraded to Amber.; to: Agree ID typically not part of the phenotype. Note reports of milder cases and DD/ID reported in some survivors (this publication suggests >80%), therefore downgraded to Amber.",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:43:59.678605+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX9: Rating: AMBER; Mode of pathogenicity: None; Publications: 21373255; Phenotypes: campomelic dysplasia MONDO:0007251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:41:50.893332+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX9 as Red List (low evidence)",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:41:50.880203+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox9 has been classified as Red List (Low Evidence).",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:39:27.328716+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLS was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:38:53.660559+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLS were changed from Global developmental delay, progressive ataxia, and elevated glutamine, MIM#\t618412 to Epileptic encephalopathy, early infantile, 71, MIM# 618328; Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:37:59.852250+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLS was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:36:48.935749+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLS were changed from Epileptic encephalopathy, early infantile, 71, MIM# 618328; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685 to Epileptic encephalopathy, early infantile, 71, MIM# 618328; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685",
"entity_name": "GLS",
"entity_type": "gene"
}
]
}