HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1009",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1007",
"results": [
{
"created": "2022-02-02T16:04:51.325179+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCND1 were changed from to {Colorectal cancer, susceptibility to} MIM#114500; {Multiple myeloma, susceptibility to} MIM#254500; {von Hippel-Lindau syndrome, modifier of} MIM#193300",
"entity_name": "CCND1",
"entity_type": "gene"
},
{
"created": "2022-02-02T16:04:27.288043+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCND1 as Red List (low evidence)",
"entity_name": "CCND1",
"entity_type": "gene"
},
{
"created": "2022-02-02T16:04:27.277886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccnd1 has been classified as Red List (Low Evidence).",
"entity_name": "CCND1",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:41:32.475003+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.218",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: RPL15 was added\ngene: RPL15 was added to Hydrops fetalis. Sources: Literature\nMode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL15 were set to 20301769; 29599205; 23812780\nPhenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12 - MIM#615550; hydrops\nReview for gene: RPL15 was set to GREEN\nAdded comment: Known association with Diamond Blackfan anaemia (~1% of cases) which in turn is known to be associated with congenital malformations (craniofacial, upper limb, heart and genitourinary malformations). 3 of 4 unrelated patients with truncating RPL15 variants had severe non-immune hydrops fetalis and required intrauterine transfusions. \nSources: Literature",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:40:09.208976+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3103",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: RPL15 was added\ngene: RPL15 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: RPL15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPL15 were set to 20301769; 29599205; 23812780\nPhenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12 - MIM#615550; multiple congenital malformations; hydrops\nReview for gene: RPL15 was set to GREEN\nAdded comment: Known association with Diamond Blackfan anaemia (~1% of cases) which in turn is known to be associated with congenital malformations (craniofacial, upper limb, heart and genitourinary malformations). 3 of 4 patients with truncating RPL15 variants had severe non-immune hydrops fetalis and required intrauterine transfusions. \nSources: Literature",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:32:14.138307+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYGM as ready",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:32:14.123642+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pygm has been classified as Red List (Low Evidence).",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:32:09.318909+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PYGM were set to ",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:31:56.442874+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PYGM as Red List (low evidence)",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:31:56.434148+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pygm has been classified as Red List (Low Evidence).",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:31:34.468007+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPN14 as ready",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:31:34.456731+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn14 has been classified as Green List (High Evidence).",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:31:29.376978+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTPN14 were set to ",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:31:06.171445+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTPN14 as Green List (high evidence)",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:31:06.161287+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn14 has been classified as Green List (High Evidence).",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:30:25.406485+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKAG2 as ready",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:30:25.396974+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkag2 has been classified as Green List (High Evidence).",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:30:17.338527+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKAG2 were changed from Glycogen storage disease of heart, lethal congenital, OMIM:261740; Cardiomyopathy, hypertrophic 6, OMIM:600858; Lethal congenital glycogen storage disease of heart, MONDO:0009867; Hypertrophic cardiomyopathy 6, MONDO:0010946 to Glycogen storage disease of heart, lethal congenital, OMIM:261740; Lethal congenital glycogen storage disease of heart, MONDO:0009867",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:29:50.417696+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKAG2 were set to ",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:29:33.102731+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRKAG2 as Green List (high evidence)",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:29:33.091694+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkag2 has been classified as Green List (High Evidence).",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:28:49.228511+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PADI4 as ready",
"entity_name": "PADI4",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:28:49.216760+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: padi4 has been classified as Red List (Low Evidence).",
"entity_name": "PADI4",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:28:39.444723+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PADI4 were changed from to Susceptibility to rheumatoid arthritis",
"entity_name": "PADI4",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:28:17.265409+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PADI4 were set to ",
"entity_name": "PADI4",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:27:57.074865+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PADI4 as Red List (low evidence)",
"entity_name": "PADI4",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:27:57.064032+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: padi4 has been classified as Red List (Low Evidence).",
"entity_name": "PADI4",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:27:20.295444+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP3CA as ready",
"entity_name": "PPP3CA",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:27:20.284566+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp3ca has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP3CA",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:27:11.666058+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP3CA were changed from Severe Neurodevelopmental Disease with Seizures to Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265",
"entity_name": "PPP3CA",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:26:58.585898+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP3CA were set to ",
"entity_name": "PPP3CA",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:26:42.585771+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP3CA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP3CA",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:22:52.176193+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR1A as ready",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:22:52.165733+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1a has been classified as Green List (High Evidence).",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:22:47.794436+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLR1A were set to ",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:22:32.645326+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLR1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:22:22.280578+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR1A as Green List (high evidence)",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:22:22.269295+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1a has been classified as Green List (High Evidence).",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:10:34.593919+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLG2 as ready",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:10:34.560453+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg2 has been classified as Red List (Low Evidence).",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:10:30.089290+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLG2 were set to ",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:10:15.796848+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLG2 as Red List (low evidence)",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:10:15.782045+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg2 has been classified as Red List (Low Evidence).",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:10:03.272308+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131, Mitochondrial DNA depletion syndrome 16 , MIM# 618528; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:08:46.048690+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLCB4 as ready",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:08:46.038981+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcb4 has been classified as Green List (High Evidence).",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:08:42.010693+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCB4 were changed from AURICULOCONDYLAR SYNDROME to Auriculocondylar syndrome 2, MIM# 614669",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:08:29.496519+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLCB4 were set to ",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:08:11.816205+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLCB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:08:01.627347+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLCB4 as Green List (high evidence)",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:08:01.613459+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcb4 has been classified as Green List (High Evidence).",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:06:27.852932+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR26: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "WDR26",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:05:16.178873+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR62 were set to ",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2022-02-02T15:03:42.329984+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.250",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PNPLA6: Rating: RED; Mode of pathogenicity: None; Publications: 35069422, 33818269, 25299038, 34157508, 33210227, 33141049, 32758583, 32586184, 31135245, 30097146, 25574898; Phenotypes: Laurence-Moon syndrome - MIM#245800, Boucher-Neuhauser syndrome - MIM#215470, Oliver-McFarlane syndrome - #275400, Spastic paraplegia 39, autosomal recessive - #612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2022-02-02T14:58:03.433432+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3084",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: PNPLA6 was added\ngene: PNPLA6 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNPLA6 were set to 35069422; 33818269; 25299038; 33210227; 33141049; 32758583; 32586184\nPhenotypes for gene: PNPLA6 were set to Oliver-McFarlane syndrome - MIM#275400\nReview for gene: PNPLA6 was set to AMBER\nAdded comment: Heterogenous group of neurodegenerative conditions associated with biallelic PNPLA6 gene variants with childhood or adult onset symptoms. Oliver-McFarlane syndrome (OMFS) though is a rare congenital disorder characterised by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies. Congenital hypogonadism is present in half of patients. Low birth weight, preterm delivery and being small for gestational age has been reported as a feature of OMFS. One case of microcephaly has been reported. Overall, limited prenatal phenotypic information for all reported cases of OMFS but associated growth restriction has the potential to be detected antenatally.\r\n\r\n--\r\n\r\n33818269 - report two unrelated patients with Oliver McFarlane syndrome with biallelic PNPLA6 variants who were born pre-term and small for gestational age.\r\n\r\n32758583 Liu et al 2020 - report one boy with Oliver McFarlane syndrome diagnosed with microcephaly and small for gestational age after delivery at 35 weeks. \nSources: Literature",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2022-02-02T13:48:26.962695+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE6D as ready",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2022-02-02T13:48:26.950572+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6d has been classified as Green List (High Evidence).",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2022-02-02T13:47:53.384230+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDE6D as Green List (high evidence)",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2022-02-02T13:47:53.368998+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6d has been classified as Green List (High Evidence).",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2022-02-02T13:47:11.433998+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPM1 as ready",
"entity_name": "NPM1",
"entity_type": "gene"
},
{
"created": "2022-02-02T13:47:11.423620+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NPM1",
"entity_type": "gene"
},
{
"created": "2022-02-02T13:47:06.215063+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPM1 were changed from Dyskeratosis congenita to Dyskeratosis congenita, MONDO:0015780, NPM1-related",
"entity_name": "NPM1",
"entity_type": "gene"
},
{
"created": "2022-02-02T13:45:47.935902+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NPM1 as Amber List (moderate evidence)",
"entity_name": "NPM1",
"entity_type": "gene"
},
{
"created": "2022-02-02T13:45:47.926184+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NPM1",
"entity_type": "gene"
},
{
"created": "2022-02-02T13:44:56.081577+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA0825 as ready",
"entity_name": "KIAA0825",
"entity_type": "gene"
},
{
"created": "2022-02-02T13:44:56.068977+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0825 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0825",
"entity_type": "gene"
},
{
"created": "2022-02-02T13:44:50.631618+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIAA0825 as Green List (high evidence)",
"entity_name": "KIAA0825",
"entity_type": "gene"
},
{
"created": "2022-02-02T13:44:50.621531+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0825 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0825",
"entity_type": "gene"
},
{
"created": "2022-02-02T13:43:58.432924+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IQCE as ready",
"entity_name": "IQCE",
"entity_type": "gene"
},
{
"created": "2022-02-02T13:43:58.423298+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqce has been classified as Green List (High Evidence).",
"entity_name": "IQCE",
"entity_type": "gene"
},
{
"created": "2022-02-02T13:43:51.239098+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IQCE as Green List (high evidence)",
"entity_name": "IQCE",
"entity_type": "gene"
},
{
"created": "2022-02-02T13:43:51.221495+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqce has been classified as Green List (High Evidence).",
"entity_name": "IQCE",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:19:13.962350+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT27 as ready",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:19:13.951278+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift27 has been classified as Green List (High Evidence).",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:19:01.881345+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFT27 as Green List (high evidence)",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:19:01.871149+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift27 has been classified as Green List (High Evidence).",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:18:08.239091+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMGB1 were changed from Mirror image foot polydactyly; Developmental delay and microcephaly, no OMIM # to Mirror image foot polydactyly; Neurodevelopmental disorder MONDO:0700092, HMGB1-related",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:17:14.863948+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMGB1 as ready",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:17:14.849389+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmgb1 has been classified as Green List (High Evidence).",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:17:11.372226+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMGB1 were changed from microcephaly; intellectual disability to Neurodevelopmental disorder MONDO:0700092, HMGB1-related; microcephaly; intellectual disability",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:16:01.383933+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HMGB1 as Green List (high evidence)",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:16:01.372360+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmgb1 has been classified as Green List (High Evidence).",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:15:07.298980+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM92A as ready",
"entity_name": "FAM92A",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:15:07.288282+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam92a has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAM92A",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:15:01.796190+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAM92A as Amber List (moderate evidence)",
"entity_name": "FAM92A",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:15:01.782913+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam92a has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAM92A",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:14:13.900030+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDSS2 as ready",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:14:13.888652+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdss2 has been classified as Red List (Low Evidence).",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:14:07.068880+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDSS2 were changed from COENZYME Q10 DEFICIENCY, PRIMARY, 3 to Coenzyme Q10 deficiency, primary, 3 MIM#614652",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:13:52.316127+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDSS2 were set to ",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:13:19.296446+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDSS2 as ready",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:13:19.285307+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdss2 has been classified as Green List (High Evidence).",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:13:11.414525+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDSS2 were changed from to Coenzyme Q10 deficiency, primary, 3 MIM#614652",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:12:51.463665+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDSS2 were set to ",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:12:30.926102+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDSS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:11:19.978509+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDHX as ready",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:11:19.966803+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdhx has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:11:16.647957+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDHX were changed from LACTICACIDEMIA DUE TO PDX1 DEFICIENCY to Lactic acidaemia due to PDX1 deficiency MIM#245349",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:10:57.877667+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDHX were set to ",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:09:24.820383+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDHX as Amber List (moderate evidence)",
"entity_name": "PDHX",
"entity_type": "gene"
}
]
}