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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=874",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=872",
"results": [
{
"created": "2022-04-24T17:48:22.398402+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rax2 has been classified as Green List (High Evidence).",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:48:18.617558+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32907597, 31833209, 29910097, 28109637, 24925318, 24556084; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:43:20.633467+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAX2 as ready",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:43:20.618204+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rax2 has been classified as Green List (High Evidence).",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:43:18.550720+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAX2 were changed from Cone-rod dystrophy 11 to Cone-rod dystrophy 11, MIM# 610381",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:43:08.649180+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAX2 were set to 30679166",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:43:02.264347+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAX2 were changed from to Cone-rod dystrophy 11, MIM# 610381",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:42:45.449346+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:42:33.869101+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15028672, 25789692, 30607024; Phenotypes: Cone-rod dystrophy 11, MIM# 610381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:42:18.436505+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAX2 were set to ",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:41:46.604632+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAX2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:41:06.911730+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15028672, 25789692, 30607024; Phenotypes: Cone-rod dystrophy 11, MIM# 610381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:36:18.197198+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RASA1 as ready",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:36:18.185447+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasa1 has been classified as Green List (High Evidence).",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:34:06.663598+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAJB11 were set to 29706351; 29777155; 33129895",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:33:07.860635+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPN11 as ready",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:33:07.850126+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn11 has been classified as Green List (High Evidence).",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:33:02.980510+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPN11 were changed from to Noonan syndrome #163950",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:32:32.782976+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTPN11 were set to ",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:31:59.645333+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTPN11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:31:08.159128+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PMM2: Changed rating: GREEN",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:30:53.969921+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMM2 as ready",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:30:53.962063+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Multiple reports of hydrops, reviewed in PMID 31420886",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:30:53.910405+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Green List (High Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:30:49.407129+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia, MIM# 212065",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:30:13.685286+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PMM2 were set to ",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:29:23.156032+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:25:13.216236+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIEZO1 as ready",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:25:13.201535+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piezo1 has been classified as Green List (High Evidence).",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:25:08.069986+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIEZO1 were changed from to Lymphatic malformation 6, MIM#\t616843",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:22:52.744520+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIEZO1 were set to ",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:22:21.436091+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIEZO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:21:10.108325+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDX1 as ready",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:21:10.092479+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdx1 has been classified as Green List (High Evidence).",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:20:58.134004+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDX1 were changed from to Pancreatic agenesis 1 - MIM#260370 (AR); MODY, type IV - MIM#606392(AD)",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:20:32.508729+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDX1 were set to ",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:20:07.587289+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:19:44.651123+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:18:05.578206+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDP1 were set to 15855260",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:17:20.140198+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31392110, 19184109, 15855260; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency - MIM#608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:14:50.364381+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDP1 as ready",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:14:50.351807+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdp1 has been classified as Green List (High Evidence).",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:14:40.444992+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency - MIM#608782",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:14:19.790763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDP1 were set to ",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:13:59.435092+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:13:19.046950+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDHB as ready",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:13:19.030589+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdhb has been classified as Green List (High Evidence).",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:13:10.084564+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDHB were changed from to Pyruvate dehydrogenase E1-beta deficiency - MIM#614111",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:57:46.250971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:55:18.381697+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FDX2 as ready",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:55:18.369387+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fdx2 has been classified as Green List (High Evidence).",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:55:14.748499+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FDX2 were changed from to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, MIM# 251900; inborn mitochondrial myopathy MONDO:0009637",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:54:36.389830+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FDX2 were set to ",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:53:58.088197+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FDX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:53:19.838572+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: FDX2: 6 apparently unrelated families with 3 different homozygous variants (c.1A>T; p.Pro144Leu; p.Met4Ile) with a rhabdomyolysis/mitochondrial myopathy phenotype. Molecular investigation of patient cells demonstrates mitochondrial dysfunction. Only 2 families with p.Pro144Leu have been reported with the additional features of optic atrophy and reversible leukoencephalopathy. The phenotype reported in OMIM is mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, but there is limited evidence that optic atrophy and leukoencephalopathy are prominent features of the phenotype.",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:53:09.151897+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24281368, 28803783, 30010796, 35079622, 34905296; Phenotypes: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, MIM# 251900, inborn mitochondrial myopathy MONDO:0009637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:51:59.613576+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FDFT1 as ready",
"entity_name": "FDFT1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:51:59.600614+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fdft1 has been classified as Green List (High Evidence).",
"entity_name": "FDFT1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:51:55.852133+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FDFT1 as Green List (high evidence)",
"entity_name": "FDFT1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:51:55.839091+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fdft1 has been classified as Green List (High Evidence).",
"entity_name": "FDFT1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:51:38.271008+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FDFT1 was added\ngene: FDFT1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review\nMode of inheritance for gene: FDFT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FDFT1 were set to 29909962\nPhenotypes for gene: FDFT1 were set to squalene synthase deficiency MONDO:0032566\nReview for gene: FDFT1 was set to GREEN\nAdded comment: Rare disorder of cholesterol biosynthesis, similar to Smith-Lemli-Opitz syndrome. Only 3 individuals with squalene synthase deficiency from 2 families with homozygous/compound heterozygous variants reported. Metabolite profiles from affected individuals suggested a defect at the level of squalene synthase. Reduced protein expression in patient cells. \nSources: Expert Review",
"entity_name": "FDFT1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:49:22.358894+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FASTKD2 as ready",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:49:22.344310+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fastkd2 has been classified as Green List (High Evidence).",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:48:35.491339+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPO1 as ready",
"entity_name": "RSPO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:48:35.478273+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspo1 has been classified as Green List (High Evidence).",
"entity_name": "RSPO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:48:33.095335+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPO1 were changed from to Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644; Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644",
"entity_name": "RSPO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:48:04.267231+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPO1 were set to ",
"entity_name": "RSPO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:47:57.012624+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FASTKD2 were changed from Combined oxidative phosphorylation deficiency 44, MIM# 618855; FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632 to Combined oxidative phosphorylation deficiency 44, MIM# 618855; FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:47:35.020876+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RSPO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:46:52.199059+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPO1 as ready",
"entity_name": "RSPO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:46:52.185582+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspo1 has been classified as Green List (High Evidence).",
"entity_name": "RSPO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:46:49.896905+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPO1 were changed from to Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644; Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644",
"entity_name": "RSPO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:46:20.665163+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPO1 were set to ",
"entity_name": "RSPO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:45:28.928691+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RSPO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:44:46.112944+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPO1 as ready",
"entity_name": "RSPO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:44:46.098154+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspo1 has been classified as Green List (High Evidence).",
"entity_name": "RSPO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:44:37.819707+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPO1 were changed from to Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644; Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644",
"entity_name": "RSPO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:44:17.910374+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPO1 were set to ",
"entity_name": "RSPO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:43:52.214986+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RSPO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPO1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:42:44.890689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBRSL1 were changed from syndromic diseaseMONDO:0002254; Malformation and intellectual disability syndrome to syndromic disease MONDO:0002254, FBRSL1-related; Malformation and intellectual disability syndrome",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:41:18.112632+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAT1 were changed from syndromic disease MONDO:0002254; facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy to syndromic disease MONDO:0002254, FAT1-related; facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:40:46.249501+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disease MONDO:0002254, FAT1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:38:39.924927+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FASTKD2 were changed from to Combined oxidative phosphorylation deficiency 44, MIM# 618855; FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:38:26.834582+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FASTKD2 were changed from FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632 to Combined oxidative phosphorylation deficiency 44, MIM# 618855; FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:37:55.280398+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FASTKD2 were set to ",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:37:16.511091+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:36:19.967427+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18771761, 28499982, 31944455, 34234304; Phenotypes: Combined oxidative phosphorylation deficiency 44, MIM# 618855, FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:35:43.667560+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:34:21.537677+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FASLG as ready",
"entity_name": "FASLG",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:34:21.523864+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: faslg has been classified as Green List (High Evidence).",
"entity_name": "FASLG",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:34:18.953900+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FASLG were changed from to autoimmune lymphoproliferative syndrome MONDO:0017979",
"entity_name": "FASLG",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:33:49.656794+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FASLG were set to ",
"entity_name": "FASLG",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:33:18.913939+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FASLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FASLG",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:32:39.112608+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FASLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16627752, 17605793, 19794494, 8787672, 22857792, 33356695, 26334989, 25451160; Phenotypes: autoimmune lymphoproliferative syndrome MONDO:0017979; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FASLG",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:31:01.199428+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDHA1 as ready",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:31:01.186721+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdha1 has been classified as Green List (High Evidence).",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:30:52.139740+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDHA1 were changed from to Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:30:31.258747+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDHA1 were set to ",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:30:10.124382+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDHA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:28:57.229123+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FAS: Changed phenotypes: autoimmune lymphoproliferative syndrome MONDO:0017979; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FAS",
"entity_type": "gene"
}
]
}