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{
"count": 220437,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1519",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1517",
"results": [
{
"created": "2020-11-01T18:03:49.964264+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 22341972, 22341971, 29193034; Phenotypes: Hypermanganesemia with dystonia 1, MIM# 613280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2020-11-01T18:02:45.327419+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC30A10 as ready",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2020-11-01T18:02:45.317016+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc30a10 has been classified as Green List (High Evidence).",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2020-11-01T18:02:40.296182+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC30A10 as Green List (high evidence)",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2020-11-01T18:02:40.287651+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc30a10 has been classified as Green List (High Evidence).",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2020-11-01T18:02:32.549147+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved.\r\n\r\nMore than 10 unrelated families reported. \nSources: Expert list; to: Autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved.\r\n\r\nMore than 10 unrelated families reported. \r\nSources: Expert list",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2020-11-01T18:02:20.202677+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC30A10 was added\ngene: SLC30A10 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC30A10 were set to 22341972; 22341971; 29193034\nPhenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia 1, MIM# 613280\nReview for gene: SLC30A10 was set to GREEN\nAdded comment: autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved.\r\n\r\nMore than 10 unrelated families reported. \nSources: Expert list",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2020-11-01T17:59:13.061760+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Acute Liver Failure_Paediatric to Liver Failure_Paediatric",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-11-01T17:57:36.552192+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC27A5 were changed from to Disorder of bile acid metabolism",
"entity_name": "SLC27A5",
"entity_type": "gene"
},
{
"created": "2020-11-01T17:57:06.585808+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC27A5: Changed phenotypes: Disorder of bile acid metabolism",
"entity_name": "SLC27A5",
"entity_type": "gene"
},
{
"created": "2020-11-01T17:54:16.927860+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPI as ready",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-11-01T17:54:16.917198+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpi has been classified as Green List (High Evidence).",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-11-01T17:54:12.974434+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MPI as Green List (high evidence)",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-11-01T17:54:12.966142+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpi has been classified as Green List (High Evidence).",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-11-01T17:54:03.093455+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPI was added\ngene: MPI was added to Acute Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPI were set to 25902754\nPhenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, MIM# 602579\nReview for gene: MPI was set to GREEN\nAdded comment: Hepatic involvement is prominent and liver failure reported. \nSources: Expert list",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-11-01T17:52:31.019333+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIPA as ready",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2020-11-01T17:52:30.998823+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lipa has been classified as Green List (High Evidence).",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2020-11-01T17:52:26.653997+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LIPA as Green List (high evidence)",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2020-11-01T17:52:26.645830+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lipa has been classified as Green List (High Evidence).",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2020-11-01T17:52:19.597307+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIPA was added\ngene: LIPA was added to Acute Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIPA were set to 8617513; 21963785\nPhenotypes for gene: LIPA were set to Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000\nReview for gene: LIPA was set to GREEN\nAdded comment: Liver failure can be of early onset and rapidly progressive or more chronic. \nSources: Expert list",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:59:40.795182+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPC1 as ready",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:59:40.787012+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npc1 has been classified as Green List (High Evidence).",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:59:37.419837+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NPC1 as Green List (high evidence)",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:59:37.412163+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npc1 has been classified as Green List (High Evidence).",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:59:29.931770+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPC1 was added\ngene: NPC1 was added to Acute Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPC1 were set to 25902754\nPhenotypes for gene: NPC1 were set to Niemann-Pick disease, MIM#\t257220\nReview for gene: NPC1 was set to GREEN\nAdded comment: Rare presentations with liver failure reported. \nSources: Expert list",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:57:16.783852+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRMU as ready",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:57:16.776047+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trmu has been classified as Green List (High Evidence).",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:57:13.621390+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRMU as Green List (high evidence)",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:57:13.610185+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trmu has been classified as Green List (High Evidence).",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:57:06.675458+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRMU was added\ngene: TRMU was added to Acute Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRMU were set to 19732863\nPhenotypes for gene: TRMU were set to Liver failure, transient infantile, MIM#\t613070\nReview for gene: TRMU was set to GREEN\nAdded comment: Acute infantile liver failure resulting from variants in TRMU is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function. With supportive care, patients who survive the initial acute episode can recover and show normal development.\r\n\r\nThirteen individuals reported, including 7 of Yemenite Jewish origin with same recurrent founder variant, p.Tyr77His. \nSources: Expert list",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:53:04.547524+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RINT1 as ready",
"entity_name": "RINT1",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:53:04.538521+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rint1 has been classified as Green List (High Evidence).",
"entity_name": "RINT1",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:51:50.140803+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RINT1 as Green List (high evidence)",
"entity_name": "RINT1",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:51:50.126187+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rint1 has been classified as Green List (High Evidence).",
"entity_name": "RINT1",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:51:41.127606+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RINT1 was added\ngene: RINT1 was added to Acute Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RINT1 were set to 31204009\nPhenotypes for gene: RINT1 were set to Infantile liver failure syndrome 3, MIM#\t618641\nReview for gene: RINT1 was set to GREEN\nAdded comment: Recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there usually is complete recovery between episodes with conservative treatment. Affected individuals also have skeletal anomalies of the vertebral bodies and femoral heads.\r\n\r\nThree unrelated families reported. \nSources: Expert list",
"entity_name": "RINT1",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:49:42.378937+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARS as ready",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:49:42.368131+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lars has been classified as Green List (High Evidence).",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:49:38.662339+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LARS as Green List (high evidence)",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:49:38.652677+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lars has been classified as Green List (High Evidence).",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:49:31.359696+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARS was added\ngene: LARS was added to Acute Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LARS were set to 30349989\nPhenotypes for gene: LARS were set to Infantile liver failure syndrome 1, MIM# 615438\nReview for gene: LARS was set to GREEN\nAdded comment: Six unrelated families reported in the literature, reviewed in PMID: 30349989. \nSources: Expert list",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:47:31.534476+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NBAS as ready",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:47:31.519775+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbas has been classified as Green List (High Evidence).",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:47:28.193092+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NBAS as Green List (high evidence)",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:47:28.185463+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbas has been classified as Green List (High Evidence).",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:47:21.227170+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NBAS was added\ngene: NBAS was added to Acute Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NBAS were set to 26073778\nPhenotypes for gene: NBAS were set to Infantile liver failure syndrome 2, MIM#\t616483\nReview for gene: NBAS was set to GREEN\nAdded comment: Recurrent episodes of acute liver failure during intercurrent febrile illness. More than 10 unrelated families reported. \nSources: Expert list",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:45:25.774903+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTC as ready",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:45:25.764937+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otc has been classified as Green List (High Evidence).",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:45:22.393849+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OTC as Green List (high evidence)",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:45:22.386572+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otc has been classified as Green List (High Evidence).",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:45:14.955817+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTC was added\ngene: OTC was added to Acute Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: OTC were set to 28887792; 25902754\nPhenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, MIM#\t311250\nReview for gene: OTC was set to GREEN\nAdded comment: Well established gene disease association.\r\n\r\nReports of presentations with liver failure. \nSources: Expert list",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:41:31.370536+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPV17 as ready",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:41:31.360765+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpv17 has been classified as Green List (High Evidence).",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:41:27.873053+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MPV17 as Green List (high evidence)",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:41:27.861960+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpv17 has been classified as Green List (High Evidence).",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:41:20.354144+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPV17 was added\ngene: MPV17 was added to Acute Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPV17 were set to 18695062\nPhenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#\t256810\nReview for gene: MPV17 was set to GREEN\nAdded comment: Well established gene-disease association.\r\n\r\nMitochondrial DNA depletion syndrome-6 is an autosomal recessive disorder characterized by infantile onset of progressive liver failure, often leading to death in the first year of life. Those that survive develop progressive neurologic involvement, including ataxia, hypotonia, dystonia, and psychomotor regression. \nSources: Expert list",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:39:41.569519+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DGUOK as ready",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:39:41.558960+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dguok has been classified as Green List (High Evidence).",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:39:37.779582+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DGUOK as Green List (high evidence)",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:39:37.769355+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dguok has been classified as Green List (High Evidence).",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:39:37.289012+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DGUOK as Green List (high evidence)",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:39:37.281387+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dguok has been classified as Green List (High Evidence).",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:39:30.402787+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DGUOK was added\ngene: DGUOK was added to Acute Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM#251880\nReview for gene: DGUOK was set to GREEN\nAdded comment: Well established gene-disease association.\r\n\r\nMitochondrial DNA depletion syndrome-3 is a severe autosomal recessive disorder characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion. \nSources: Expert list",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:37:58.095114+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLG as ready",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:37:58.083559+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Green List (High Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:37:53.498704+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLG as Green List (high evidence)",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:37:53.487605+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Green List (High Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:37:46.213057+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLG was added\ngene: POLG was added to Acute Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLG were set to 20220442\nPhenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM#\t203700\nReview for gene: POLG was set to GREEN\nAdded comment: Well established gene-disease association.\r\n\r\nAlpers syndrome is an autosomal recessive disorder characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children. Pathologic findings include neuronal loss in the cerebral gray matter with reactive astrocytosis and liver cirrhosis. The disorder is progressive and often leads to death from hepatic failure or status epilepticus before age 3 years. \nSources: Expert list",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:35:25.883089+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADM as ready",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:35:25.872915+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadm has been classified as Green List (High Evidence).",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:35:21.947207+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACADM as Green List (high evidence)",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:35:21.932839+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadm has been classified as Green List (High Evidence).",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:35:14.726764+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACADM was added\ngene: ACADM was added to Acute Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM#\t201450\nReview for gene: ACADM was set to GREEN\nAdded comment: Inherited deficiency of medium-chain acyl-CoA dehydrogenase is characterized by intolerance to prolonged fasting, recurrent episodes of hypoglycemic coma with medium-chain dicarboxylic aciduria, impaired ketogenesis, and low plasma and tissue carnitine levels. Can progress to liver failure. \nSources: Expert list",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:31:32.030780+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDOB as ready",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:31:32.022505+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldob has been classified as Green List (High Evidence).",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:31:14.397437+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDOB as Green List (high evidence)",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:31:14.388643+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldob has been classified as Green List (High Evidence).",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:31:07.426543+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDOB was added\ngene: ALDOB was added to Acute Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDOB were set to Fructose intolerance, hereditary, MIM#\t229600\nReview for gene: ALDOB was set to GREEN\nAdded comment: Well established gene-disease association.\r\n\r\nHereditary fructose intolerance (HFI) becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet. Clinical features include recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal. Long-term exposure to fructose can result in liver failure, renal tubulopathy, and growth retardation. \nSources: Expert list",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:28:37.091031+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAH as ready",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:28:37.077441+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fah has been classified as Green List (High Evidence).",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:28:33.403956+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAH as Green List (high evidence)",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:28:33.390646+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fah has been classified as Green List (High Evidence).",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:28:24.130395+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAH was added\ngene: FAH was added to Acute Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAH were set to 15759101\nPhenotypes for gene: FAH were set to Tyrosinemia, type I, MIM#276700\nReview for gene: FAH was set to GREEN\nAdded comment: Well established gene-disease association.\r\n\r\nThe disorder is characterized by progressive liver disease and a secondary renal tubular dysfunction leading to hypophosphatemic rickets. Onset varies from infancy to adolescence. In the most acute form patients present with severe liver failure within weeks after birth, whereas rickets may be the major symptom in chronic tyrosinemia. Untreated, death ensues from cirrhosis or hepatocellular carcinoma at a young age. \nSources: Expert list",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:25:57.876101+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALT as ready",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:25:57.866228+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galt has been classified as Green List (High Evidence).",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:25:54.567398+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GALT as Green List (high evidence)",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:25:54.551153+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galt has been classified as Green List (High Evidence).",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:25:46.916236+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALT was added\ngene: GALT was added to Acute Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALT were set to Galactosaemia, MIM#230400\nReview for gene: GALT was set to GREEN\nAdded comment: Well established gene-disease association. Most individuals present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include intellectual disability, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism.\r\n\r\nCommonly part of newborn screening program but currently not in Victoria. \nSources: Expert list",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2020-11-01T11:23:09.161706+11:00",
"panel_name": "Acute Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added Panel Acute Liver Failure_Paediatric\nSet panel types to: Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-10-31T17:31:13.859725+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DDX23 as Amber List (moderate evidence)",
"entity_name": "DDX23",
"entity_type": "gene"
},
{
"created": "2020-10-31T17:31:13.851387+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ddx23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DDX23",
"entity_type": "gene"
},
{
"created": "2020-10-31T17:29:41.688697+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DDX23 was added\ngene: DDX23 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DDX23 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DDX23 were set to 33057194\nPhenotypes for gene: DDX23 were set to Developmental disorder\nReview for gene: DDX23 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 6 de novo missense identified in ~10,000 cases with developmental disorders (no other phenotype info provided) \nSources: Literature",
"entity_name": "DDX23",
"entity_type": "gene"
},
{
"created": "2020-10-31T17:27:10.449753+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5211",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP6V0A1 as Amber List (moderate evidence)",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2020-10-31T17:27:10.442118+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5211",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp6v0a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2020-10-31T17:26:42.989640+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5210",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP6V0A1 was added\ngene: ATP6V0A1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATP6V0A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP6V0A1 were set to 30842224; 33057194\nPhenotypes for gene: ATP6V0A1 were set to Developmental disorder; Rett syndrome-like\nReview for gene: ATP6V0A1 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 11 de novo missense identified in ~10,000 cases with developmental disorders (no other phenotype info provided).\r\nPMID: 30842224 - identified a de novo missense variant in a single individual with atypical Rett syndrome phenotype \nSources: Literature",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2020-10-31T17:15:41.049185+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ARHGAP35 as ready",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2020-10-31T17:15:41.037531+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arhgap35 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2020-10-31T17:15:25.094263+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ARHGAP35 as Amber List (moderate evidence)",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2020-10-31T17:15:25.084229+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arhgap35 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2020-10-31T17:14:57.685568+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5208",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARHGAP35 was added\ngene: ARHGAP35 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARHGAP35 were set to 33057194\nPhenotypes for gene: ARHGAP35 were set to Developmental disorder\nReview for gene: ARHGAP35 was set to AMBER\nAdded comment: Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 16 de novo variants (3 frameshift, 2 in-frame, 10 missense, 1 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \nSources: Literature",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2020-10-31T17:05:50.247431+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Established hypercalcaemia gene. \r\nPMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 5 de novo missense identified in ~10,000 cases with developmental disorders (no other phenotype info provided)",
"entity_name": "AP2S1",
"entity_type": "gene"
}
]
}