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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=894",
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"results": [
{
"created": "2022-04-07T07:31:15.173401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX17 were changed from to Vesicoureteral reflux 3 MIM#613674; Pulmonary arterial hypertension, MONDO:0015924",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:30:54.262228+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX17 were set to ",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:30:32.963339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:30:13.258635+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX17: Rating: GREEN; Mode of pathogenicity: None; Publications: 29650961, 31406341, 20960469; Phenotypes: Vesicoureteral reflux 3 MIM#613674, Pulmonary arterial hypertension, MONDO:0015924; Mode of inheritance: None",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:26:59.407820+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX18 as ready",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:26:59.396310+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox18 has been classified as Green List (High Evidence).",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:26:49.939437+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX18 were changed from to Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:26:29.799030+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX18 were set to ",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:26:07.342884+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX18 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:25:48.309689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX18: Rating: GREEN; Mode of pathogenicity: None; Publications: 12740761, 24697860, 2484451, 26148450, 33851505; Phenotypes: Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:21:49.795145+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX5 as ready",
"entity_name": "SOX5",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:21:49.780418+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox5 has been classified as Green List (High Evidence).",
"entity_name": "SOX5",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:21:40.776748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX5 were changed from to Lamb-Shaffer syndrome, MIM# 616803",
"entity_name": "SOX5",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:21:20.184798+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX5 were set to ",
"entity_name": "SOX5",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:20:59.600515+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX5",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:20:38.142352+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SOX5.",
"entity_name": "SOX5",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:20:15.422332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SOX5.",
"entity_name": "SOX5",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:20:02.640677+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22290657, 23220431; Phenotypes: Lamb-Shaffer syndrome, MIM# 616803; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX5",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:13:47.094187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX9 as ready",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:13:47.081104+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox9 has been classified as Green List (High Evidence).",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:13:32.301202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX9 were changed from to Campomelic dysplasia, MIM# 114290; Campomelic dysplasia, MONDO:0007251",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:13:13.112675+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX9 were set to ",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:12:53.152552+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SOX9: Changed publications: 20301724",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:11:45.434075+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12645",
"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": "2022-04-07T07:11:21.973754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Campomelic dysplasia, MIM# 114290, Campomelic dysplasia, MONDO:0007251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:59:15.694218+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SP7 as ready",
"entity_name": "SP7",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:59:15.681449+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sp7 has been classified as Green List (High Evidence).",
"entity_name": "SP7",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:52:18.739408+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SP7 were changed from to Osteogenesis imperfecta type 12, MONDO:0013460; Osteogenesis imperfecta, type XII, OMIM:613849",
"entity_name": "SP7",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:51:31.865192+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SP7 were set to ",
"entity_name": "SP7",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:50:57.410867+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SP7",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:50:27.373335+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 20579626, 29382611, 35367406, 34091789, 32413570; Phenotypes: Osteogenesis imperfecta type 12, MONDO:0013460, Osteogenesis imperfecta, type XII, OMIM:613849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SP7",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:49:19.813586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978, Chorea, hereditary benign MIM#118700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:48:55.006719+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SP7 as ready",
"entity_name": "SP7",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:48:54.990653+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sp7 has been classified as Green List (High Evidence).",
"entity_name": "SP7",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:48:41.229070+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SP7 were changed from to Osteogenesis imperfecta type 12, MONDO:0013460; Osteogenesis imperfecta, type XII, OMIM:613849",
"entity_name": "SP7",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:48:20.514464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SP7 were set to ",
"entity_name": "SP7",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:47:53.966823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SP7",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:47:31.281685+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 20579626, 29382611, 35367406, 34091789, 32413570; Phenotypes: Osteogenesis imperfecta type 12, MONDO:0013460, Osteogenesis imperfecta, type XII, OMIM:613849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SP7",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:40:04.098106+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPAG7 as ready",
"entity_name": "SPAG7",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:40:04.084215+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spag7 has been classified as Red List (Low Evidence).",
"entity_name": "SPAG7",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:39:53.623445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPAG7 were changed from to Periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome, MONDO:0018540",
"entity_name": "SPAG7",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:39:11.901535+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPAG7 were set to ",
"entity_name": "SPAG7",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:35:05.411487+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPAG7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPAG7",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:34:40.914456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPAG7 as Red List (low evidence)",
"entity_name": "SPAG7",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:34:40.905002+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spag7 has been classified as Red List (Low Evidence).",
"entity_name": "SPAG7",
"entity_type": "gene"
},
{
"created": "2022-04-07T06:34:21.327705+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPAG7: Rating: RED; Mode of pathogenicity: None; Publications: 24452265; Phenotypes: Periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPAG7",
"entity_type": "gene"
},
{
"created": "2022-04-06T19:26:02.957840+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATA5 as ready",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2022-04-06T19:26:02.947877+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2022-04-06T19:25:54.955055+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPATA5 were changed from to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2022-04-06T19:24:24.378575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPATA5 were set to ",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2022-04-06T19:24:03.311726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPATA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2022-04-06T19:23:55.863390+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPATA5 were changed from Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2022-04-06T19:23:16.171273+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30009132, 29343804; Phenotypes: Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2022-04-06T19:23:05.469530+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPATA5: Changed phenotypes: Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities 616577",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2022-04-06T19:01:24.856943+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPECC1L as ready",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2022-04-06T19:01:24.803442+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: specc1l has been classified as Green List (High Evidence).",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2022-04-06T19:01:16.957366+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPECC1L were changed from to Hypertelorism, Teebi type, MIM# 145420; Opitz GBBB syndrome, type II, MIM#145410",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2022-04-06T19:00:57.755738+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPECC1L were set to ",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2022-04-06T19:00:37.178625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPECC1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2022-04-06T19:00:15.415890+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2022-04-06T19:00:09.351800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPECC1L: Added comment: Well established gene-disease associations with Teebi and Opitz GBBB.\r\n\r\nSingle individual reported with oblique facial cleft, some supportive functional data.; Changed publications: 25412741, 26111080, 21703590; Changed phenotypes: Hypertelorism, Teebi type, MIM# 145420, Opitz GBBB syndrome, type II, MIM#145410",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:57:18.054100+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPECC1L: Changed phenotypes: Hypertelorism, Teebi type, MIM# 145420, Opitz GBBB syndrome, type II, MIM#145410, Craniosynostosis",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:56:15.464784+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25412741; Phenotypes: Hypertelorism, Teebi type, MIM# 145420, Opitz GBBB syndrome, type II, MIM#145410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:53:36.237095+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SSR4 as ready",
"entity_name": "SSR4",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:53:36.225167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ssr4 has been classified as Green List (High Evidence).",
"entity_name": "SSR4",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:53:26.555572+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SSR4 were changed from to Congenital disorder of glycosylation, type Iy, MIM# 300934",
"entity_name": "SSR4",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:53:05.685292+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SSR4 were set to ",
"entity_name": "SSR4",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:52:46.163555+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SSR4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SSR4",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:52:26.305328+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SSR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24218363, 26264460, 33300232; Phenotypes: Congenital disorder of glycosylation, type Iy, MIM# 300934; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SSR4",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:48:10.090797+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRY as ready",
"entity_name": "SRY",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:48:10.069210+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sry has been classified as Green List (High Evidence).",
"entity_name": "SRY",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:48:02.032294+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRY were changed from to 46XX sex reversal 1, MIM# 400045; 46XY sex reversal 1 , MIM#400044",
"entity_name": "SRY",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:47:31.541684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRY were set to ",
"entity_name": "SRY",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:47:09.443569+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SRY 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": "SRY",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:46:42.037916+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SRY: Rating: GREEN; Mode of pathogenicity: None; Publications: 9143916, 15863672; Phenotypes: 46XX sex reversal 1, MIM# 400045, 46XY sex reversal 1 , MIM#400044; 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": "SRY",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:43:13.334842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRP54 as ready",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:43:13.320363+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srp54 has been classified as Green List (High Evidence).",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:43:05.673521+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRP54 were changed from to Neutropaenia, severe congenital, 8, autosomal dominant, MIM# 618752",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:42:44.158162+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRP54 were set to ",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:42:23.182767+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SRP54 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:42:02.843521+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SRP54: Rating: GREEN; Mode of pathogenicity: None; Publications: 29914977, 28972538; Phenotypes: Neutropaenia, severe congenital, 8, autosomal dominant, MIM# 618752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:40:47.998116+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRD5A2 as ready",
"entity_name": "SRD5A2",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:40:47.988165+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srd5a2 has been classified as Green List (High Evidence).",
"entity_name": "SRD5A2",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:40:45.496679+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRD5A2 were changed from to Pseudovaginal perineoscrotal hypospadias, MIM# 264600",
"entity_name": "SRD5A2",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:40:15.265050+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRD5A2 were set to ",
"entity_name": "SRD5A2",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:39:43.244832+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SRD5A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SRD5A2",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:39:08.028182+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SRD5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1944596, 12843198, 35331321, 35154247, 35135181; Phenotypes: Pseudovaginal perineoscrotal hypospadias, MIM# 264600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SRD5A2",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:38:11.918007+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRD5A2 as ready",
"entity_name": "SRD5A2",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:38:11.906406+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srd5a2 has been classified as Green List (High Evidence).",
"entity_name": "SRD5A2",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:38:04.201935+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRD5A2 were changed from to Pseudovaginal perineoscrotal hypospadias, MIM# 264600",
"entity_name": "SRD5A2",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:37:41.969090+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRD5A2 were set to ",
"entity_name": "SRD5A2",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:37:20.881153+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SRD5A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SRD5A2",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:36:55.164801+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SRD5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1944596, 12843198, 35331321, 35154247, 35135181; Phenotypes: Pseudovaginal perineoscrotal hypospadias, MIM# 264600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SRD5A2",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:34:19.664635+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPRY1 as ready",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:34:19.655380+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spry1 has been classified as Red List (Low Evidence).",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:34:10.543884+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPRY1 as Red List (low evidence)",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:34:10.530992+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spry1 has been classified as Red List (Low Evidence).",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:33:46.715117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPRY1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:30:30.692064+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPINK5 as ready",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:30:30.681852+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spink5 has been classified as Green List (High Evidence).",
"entity_name": "SPINK5",
"entity_type": "gene"
}
]
}