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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=774",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=772",
"results": [
{
"created": "2022-09-02T13:51:09.812786+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ALDH6A1 as Green List (high evidence)",
"entity_name": "ALDH6A1",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:51:09.792549+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aldh6a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH6A1",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:50:49.785425+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ACAT1 as ready",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:50:49.773272+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acat1 has been classified as Green List (High Evidence).",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:50:37.441526+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACAT1 as Green List (high evidence)",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:50:37.430115+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acat1 has been classified as Green List (High Evidence).",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:50:25.607130+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ACADSB as ready",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:50:25.585370+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acadsb has been classified as Green List (High Evidence).",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:50:23.096398+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ACADSB were set to 29152456",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:50:11.423713+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACADSB as Green List (high evidence)",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:50:11.416298+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acadsb has been classified as Green List (High Evidence).",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:49:49.551345+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ACAD8 as ready",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:49:49.535063+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acad8 has been classified as Green List (High Evidence).",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:49:46.994194+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ACAD8 were set to 29152456",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:49:30.881278+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACAD8 as Green List (high evidence)",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:49:30.874127+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acad8 has been classified as Green List (High Evidence).",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:48:12.427761+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DLD as ready",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:48:12.411502+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dld has been classified as Green List (High Evidence).",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:48:05.812004+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DLD were set to ",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:47:45.679985+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DBT as ready",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:47:45.670583+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dbt has been classified as Green List (High Evidence).",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:47:42.702139+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DBT were set to 29152456",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:47:28.513775+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: BCKDK as ready",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:47:28.502300+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bckdk has been classified as Green List (High Evidence).",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:47:25.424346+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: BCKDK were set to ",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:47:07.211059+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: BCKDHB as ready",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:47:07.199938+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bckdhb has been classified as Green List (High Evidence).",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:47:02.641893+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: BCKDHB were set to 29152456",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:46:39.644799+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: BCKDHA as ready",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:46:39.637679+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bckdha has been classified as Green List (High Evidence).",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:46:34.666292+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: BCKDHA were set to 29152456",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:46:05.949523+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: BCAT2 as ready",
"entity_name": "BCAT2",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:46:05.937587+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bcat2 has been classified as Green List (High Evidence).",
"entity_name": "BCAT2",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:46:03.406434+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: BCAT2 were set to ",
"entity_name": "BCAT2",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:45:43.303339+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PPM1K as ready",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:45:43.286572+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ppm1k has been classified as Red List (Low Evidence).",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:45:34.367702+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PPM1K were set to 29152456",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:45:22.647933+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PPM1K as Red List (low evidence)",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:45:22.640773+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ppm1k has been classified as Red List (Low Evidence).",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:46.743253+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DLD was added\ngene: DLD was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green\nMode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLD were set to pyruvate dehydrogenase E3 deficiency MONDO:0009529",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:46.696949+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BCAT2 was added\ngene: BCAT2 was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green\nMode of inheritance for gene: BCAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCAT2 were set to hypervalinemia and hyperleucine-isoleucinemia MONDO:0100058",
"entity_name": "BCAT2",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:46.648854+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BCKDK was added\ngene: BCKDK was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green\nMode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDK were set to branched-chain keto acid dehydrogenase kinase deficiency MONDO:0013970",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:46.602624+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MMADHC was added\ngene: MMADHC was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMADHC were set to 29152456\nPhenotypes for gene: MMADHC were set to methylmalonic aciduria and homocystinuria type cblD MONDO:0010185",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:46.552479+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MMAB was added\ngene: MMAB was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMAB were set to 29152456\nPhenotypes for gene: MMAB were set to methylmalonic aciduria, cblB type MONDO:0009614",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:46.502604+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MMAA was added\ngene: MMAA was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMAA were set to 29152456\nPhenotypes for gene: MMAA were set to methylmalonic aciduria, cblA type MONDO:0009613",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:46.454707+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MUT was added\ngene: MUT was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MUT were set to 29152456\nPhenotypes for gene: MUT were set to methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:46.409368+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PCCB was added\ngene: PCCB was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCCB were set to 29152456\nPhenotypes for gene: PCCB were set to propionic acidemia MONDO:0011628",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:46.363897+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PCCA was added\ngene: PCCA was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCCA were set to 29152456\nPhenotypes for gene: PCCA were set to propionic acidemia MONDO:0011628",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:46.319139+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALDH6A1 was added\ngene: ALDH6A1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: ALDH6A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH6A1 were set to 29152456\nPhenotypes for gene: ALDH6A1 were set to methylmalonate semialdehyde dehydrogenase deficiency MONDO:0013579",
"entity_name": "ALDH6A1",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:46.272034+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HIBCH was added\ngene: HIBCH was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HIBCH were set to 29152456\nPhenotypes for gene: HIBCH were set to 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:46.222938+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACAD8 was added\ngene: ACAD8 was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACAD8 were set to 29152456\nPhenotypes for gene: ACAD8 were set to isobutyryl-CoA dehydrogenase deficiency MONDO:0012648",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:46.175813+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACAT1 was added\ngene: ACAT1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACAT1 were set to 29152456\nPhenotypes for gene: ACAT1 were set to beta-ketothiolase deficiency MONDO:0008760",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:46.130473+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACADSB was added\ngene: ACADSB was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACADSB were set to 29152456\nPhenotypes for gene: ACADSB were set to 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0012392",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:46.085283+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HMGCL was added\ngene: HMGCL was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HMGCL were set to 29152456\nPhenotypes for gene: HMGCL were set to 3-hydroxy-3-methylglutaric aciduria MONDO:0009520",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:46.040199+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLPB was added\ngene: CLPB was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLPB were set to 29152456\nPhenotypes for gene: CLPB were set to 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014561",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:45.994497+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SERAC1 was added\ngene: SERAC1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SERAC1 were set to 29152456\nPhenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0013875",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:45.949636+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DNAJC19 was added\ngene: DNAJC19 was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJC19 were set to 29152456\nPhenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria type 5 MONDO:0012435",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:45.905776+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OPA3 was added\ngene: OPA3 was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OPA3 were set to 29152456\nPhenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria type 3 MONDO:0009787",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:45.861733+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TAZ was added\ngene: TAZ was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TAZ were set to 29152456\nPhenotypes for gene: TAZ were set to 3-methylglutaconic aciduria MONDO:0017359",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:45.817755+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AUH was added\ngene: AUH was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AUH were set to 29152456\nPhenotypes for gene: AUH were set to 3-methylglutaconic aciduria type 1 MONDO:0009610",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:45.771488+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MCCC2 was added\ngene: MCCC2 was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCCC2 were set to 29152456\nPhenotypes for gene: MCCC2 were set to 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:45.727061+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MCCC1 was added\ngene: MCCC1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCCC1 were set to 29152456\nPhenotypes for gene: MCCC1 were set to 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:45.682624+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IVD was added\ngene: IVD was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IVD were set to 29152456\nPhenotypes for gene: IVD were set to isovaleric acidemia MONDO:0009475",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:45.638027+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PPM1K was added\ngene: PPM1K was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green\nMode of inheritance for gene: PPM1K was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPM1K were set to 29152456\nPhenotypes for gene: PPM1K were set to maple syrup urine disease, mild variant MONDO:0014057",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:45.593278+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DBT was added\ngene: DBT was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green\nMode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DBT were set to 29152456\nPhenotypes for gene: DBT were set to maple syrup urine disease MONDO:0009563",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:45.549622+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BCKDHB was added\ngene: BCKDHB was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green\nMode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCKDHB were set to 29152456\nPhenotypes for gene: BCKDHB were set to maple syrup urine disease type 1B MONDO:0023692",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:45.504626+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BCKDHA was added\ngene: BCKDHA was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green\nMode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCKDHA were set to 29152456\nPhenotypes for gene: BCKDHA were set to maple syrup urine disease type 1A MONDO:0023691",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-09-02T13:38:45.473496+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Disorders of branched chain amino acid metabolism",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-09-02T09:57:57.198342+10:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Australian Genomics; Rare Disease; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-09-02T09:16:38.631478+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-09-02T09:15:57.423411+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-09-02T09:15:56.428429+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPFIBP1: Changed phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-09-02T09:15:03.108589+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-09-02T09:14:22.367718+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPFIBP1: Changed phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-09-02T09:14:05.273420+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-09-02T09:13:38.274261+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPFIBP1: Changed phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-09-02T09:13:17.846498+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-09-02T09:12:48.332522+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPFIBP1: Changed publications: 35830857",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-09-02T09:12:19.099527+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPFIBP1: Changed phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-09-02T09:10:55.835467+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDZD8 as ready",
"entity_name": "PDZD8",
"entity_type": "gene"
},
{
"created": "2022-09-02T09:10:55.823441+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdzd8 has been classified as Green List (High Evidence).",
"entity_name": "PDZD8",
"entity_type": "gene"
},
{
"created": "2022-09-02T09:10:16.782010+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDZD8 as Green List (high evidence)",
"entity_name": "PDZD8",
"entity_type": "gene"
},
{
"created": "2022-09-02T09:10:16.774359+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdzd8 has been classified as Green List (High Evidence).",
"entity_name": "PDZD8",
"entity_type": "gene"
},
{
"created": "2022-09-02T09:09:51.229678+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDZD8 was added\ngene: PDZD8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PDZD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDZD8 were set to 35227461\nPhenotypes for gene: PDZD8 were set to Intellectual developmental disorder with autism and dysmorphic facies, MIM# 620021\nReview for gene: PDZD8 was set to GREEN\nAdded comment: Four individuals from two unrelated families, Drosophila and mouse models support gene-disease association. \nSources: Literature",
"entity_name": "PDZD8",
"entity_type": "gene"
},
{
"created": "2022-09-02T09:08:21.243877+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDZD8 as ready",
"entity_name": "PDZD8",
"entity_type": "gene"
},
{
"created": "2022-09-02T09:08:21.230712+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdzd8 has been classified as Green List (High Evidence).",
"entity_name": "PDZD8",
"entity_type": "gene"
},
{
"created": "2022-09-02T09:08:13.930976+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDZD8 as Green List (high evidence)",
"entity_name": "PDZD8",
"entity_type": "gene"
},
{
"created": "2022-09-02T09:08:13.922836+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdzd8 has been classified as Green List (High Evidence).",
"entity_name": "PDZD8",
"entity_type": "gene"
},
{
"created": "2022-09-02T09:07:44.024915+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDZD8 was added\ngene: PDZD8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PDZD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDZD8 were set to 35227461\nPhenotypes for gene: PDZD8 were set to Intellectual developmental disorder with autism and dysmorphic facies, MIM#\t620021\nReview for gene: PDZD8 was set to GREEN\nAdded comment: Four individuals from two unrelated families, Drosophila and mouse models support gene-disease association. \nSources: Literature",
"entity_name": "PDZD8",
"entity_type": "gene"
},
{
"created": "2022-09-02T08:41:43.056345+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.310",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: SLC31A1 was added\ngene: SLC31A1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC31A1 were set to PMID: 35913762\nPhenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092)\nReview for gene: SLC31A1 was set to RED\nAdded comment: SLC31A1 is also referred to as CTR1. \r\nMonozygotic twins with hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Homozygous for a novel missense variant (p.(Arg95His)) in copper transporter CTR1, both parents heterozygous. A mouse knock-out model of CTR1 deficiency resulted in prenatal lethality. \nSources: Expert list",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2022-09-02T08:40:24.553289+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1654",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: SLC31A1 was added\ngene: SLC31A1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC31A1 were set to PMID: 35913762\nPhenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092)\nReview for gene: SLC31A1 was set to RED\nAdded comment: SLC31A1 is also referred to as CTR1. \r\nMonozygotic twins with hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Homozygous for a novel missense variant (p.(Arg95His)) in copper transporter CTR1, both parents heterozygous. A mouse knock-out model of CTR1 deficiency resulted in prenatal lethality. \nSources: Expert list",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2022-09-02T08:38:23.545407+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4924",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: SLC31A1 was added\ngene: SLC31A1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC31A1 were set to PMID: 35913762\nPhenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092)\nReview for gene: SLC31A1 was set to RED\nAdded comment: SLC31A1 is also referred to as CTR1. \r\nMonozygotic twins with hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Homozygous for a novel missense variant (p.(Arg95His)) in copper transporter CTR1, both parents heterozygous. A mouse knock-out model of CTR1 deficiency resulted in prenatal lethality. \nSources: Expert list",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:24:09.467160+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIX3 as ready",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:24:09.459265+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six3 has been classified as Red List (Low Evidence).",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:24:05.631735+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIX3 were changed from Holoprosencephaly 2 (157170); Non-acquired combined pituitary hormone deficiency MONDO:0018762 to Holoprosencephaly 2 (157170); Non-acquired combined pituitary hormone deficiency MONDO:0018762",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:24:05.046590+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIX3 were changed from Holoprosencephaly 2 (157170) to Holoprosencephaly 2 (157170); Non-acquired combined pituitary hormone deficiency MONDO:0018762",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:23:29.940921+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIX3 were set to ",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:22:23.653413+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPH1 were changed from HNRNPH1‐related syndromic intellectual disability to HNRNPH1‐related syndromic intellectual disability; early onset high myopia, MONDO:0001384",
"entity_name": "HNRNPH1",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:21:18.709578+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNRNPH1 were set to 32335897; 29938792",
"entity_name": "HNRNPH1",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:20:02.443991+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM163 as ready",
"entity_name": "TMEM163",
"entity_type": "gene"
}
]
}