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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=877",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=875",
"results": [
{
"created": "2022-04-21T14:18:52.256859+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13137",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2022-04-21T14:13:34.219249+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13137",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FFAR4 were set to ",
"entity_name": "FFAR4",
"entity_type": "gene"
},
{
"created": "2022-04-21T14:13:05.036911+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13136",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2022-04-21T14:08:54.626563+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13136",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2022-04-21T14:08:22.941046+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13136",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FFAR4 as Red List (low evidence)",
"entity_name": "FFAR4",
"entity_type": "gene"
},
{
"created": "2022-04-21T14:08:22.927863+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13136",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ffar4 has been classified as Red List (Low Evidence).",
"entity_name": "FFAR4",
"entity_type": "gene"
},
{
"created": "2022-04-21T14:06:23.065007+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FFAR4: Rating: RED; Mode of pathogenicity: None; Publications: 22343897, 34043793; Phenotypes: {Obesity, susceptibility to} MIM#607514; Mode of inheritance: Unknown",
"entity_name": "FFAR4",
"entity_type": "gene"
},
{
"created": "2022-04-21T13:37:48.155401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2022-04-21T13:34:17.995678+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FDX2 as ready",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2022-04-21T13:34:17.984039+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fdx2 has been classified as Green List (High Evidence).",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2022-04-21T13:32:51.697058+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FDX2 were changed from to inborn mitochondrial myopathy MONDO:0009637",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2022-04-21T13:30:38.590725+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13134",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FDX2 were set to ",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2022-04-21T13:29:19.157406+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13133",
"user_name": "Bryony Thompson",
"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": "2022-04-21T13:28:09.769620+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24281368, 28803783, 30010796, 35079622, 34905296; Phenotypes: inborn mitochondrial myopathy MONDO:0009637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2022-04-21T12:42:52.837560+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FDFT1 as ready",
"entity_name": "FDFT1",
"entity_type": "gene"
},
{
"created": "2022-04-21T12:42:52.818516+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fdft1 has been classified as Green List (High Evidence).",
"entity_name": "FDFT1",
"entity_type": "gene"
},
{
"created": "2022-04-21T12:41:01.787791+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FDFT1 were changed from to squalene synthase deficiency MONDO:0032566",
"entity_name": "FDFT1",
"entity_type": "gene"
},
{
"created": "2022-04-21T12:22:34.406676+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FDFT1 were set to ",
"entity_name": "FDFT1",
"entity_type": "gene"
},
{
"created": "2022-04-21T12:19:11.810956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FDFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FDFT1",
"entity_type": "gene"
},
{
"created": "2022-04-21T12:17:05.384092+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FDFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29909962; Phenotypes: squalene synthase deficiency MONDO:0032566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FDFT1",
"entity_type": "gene"
},
{
"created": "2022-04-21T11:34:44.245805+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FBXO7 as ready",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2022-04-21T11:34:44.234565+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fbxo7 has been classified as Green List (High Evidence).",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2022-04-21T11:33:52.118142+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO7 were changed from to parkinsonian-pyramidal syndrome MONDO:0009830",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2022-04-21T11:32:19.732395+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FBXO7 were set to ",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2022-04-21T11:32:01.942862+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FBXW7 were changed from FBXW7-related neurodevelopmental syndrome; Wilms tumour predisposition to neurodevelopmental disorder MONDO:0700092; FBXW7-related neurodevelopmental syndrome; Wilms tumor MONDO:0006058",
"entity_name": "FBXW7",
"entity_type": "gene"
},
{
"created": "2022-04-21T11:28:50.742171+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBXO7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2022-04-21T11:26:37.798153+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: None; Publications: 18513678, 19038853, 34781237; Phenotypes: parkinsonian-pyramidal syndrome MONDO:0009830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2022-04-21T10:02:11.683040+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.114",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RSPO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17041600, 18085567, 18250098, 18250097; Phenotypes: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644, Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RSPO1",
"entity_type": "gene"
},
{
"created": "2022-04-21T10:01:18.056415+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.248",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RSPO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17041600, 18085567, 18250098, 18250097; Phenotypes: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644, Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RSPO1",
"entity_type": "gene"
},
{
"created": "2022-04-21T09:59:40.889316+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13125",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RSPO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17041600, 18085567, 18250098, 18250097; Phenotypes: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644, Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RSPO1",
"entity_type": "gene"
},
{
"created": "2022-04-21T09:48:30.058937+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FBP1 as ready",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2022-04-21T09:48:30.043467+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fbp1 has been classified as Green List (High Evidence).",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2022-04-21T09:46:06.268721+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FBP1 were changed from to fructose-1,6-bisphosphatase deficiency MONDO:0009251",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2022-04-21T09:45:50.954128+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FBRSL1 were changed from Malformation and intellectual disability syndrome to syndromic diseaseMONDO:0002254; Malformation and intellectual disability syndrome",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2022-04-21T09:42:50.679617+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FBP1 were set to ",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2022-04-21T09:40:04.308216+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2022-04-21T09:39:18.086415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Well-established gene-disease association. Fructose-1,6-bisphosphatase (FBP1) deficiency is metabolic disorder characterised by episodic acute crises of lactic acidosis and ketotic hypoglycaemia, manifesting as hyperventilation, apneic spells, seizures, and/or coma. Both SNVs and CNVs have been reported.; to: Well-established gene-disease association. Fructose-1,6-bisphosphatase (FBP1) deficiency is a metabolic disorder characterised by episodic acute crises of lactic acidosis and ketotic hypoglycaemia, manifesting as hyperventilation, apneic spells, seizures, and/or coma. Both SNVs and CNVs have been reported.",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2022-04-21T09:38:12.355365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9382095, 12126934, 27101822, 30858132; Phenotypes: fructose-1,6-bisphosphatase deficiency MONDO:0009251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:54:48.560758+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:54:09.072942+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:53:41.977643+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:52:56.543982+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:52:34.080242+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:51:48.870955+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:51:13.192468+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:50:29.643060+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:50:00.899533+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:48:44.638553+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:40:09.846273+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLRA2 as ready",
"entity_name": "GLRA2",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:40:09.834129+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glra2 has been classified as Green List (High Evidence).",
"entity_name": "GLRA2",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:40:03.604985+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLRA2 as Green List (high evidence)",
"entity_name": "GLRA2",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:40:03.591153+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glra2 has been classified as Green List (High Evidence).",
"entity_name": "GLRA2",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:34:50.722960+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLRA2 was added\ngene: GLRA2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: GLRA2 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: GLRA2 were set to 26370147; 20479760; 35294868\nPhenotypes for gene: GLRA2 were set to Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076\nReview for gene: GLRA2 was set to GREEN\nAdded comment: More than 10 unrelated families reported. Both males and females affected, though some mothers are asymptomatic or mild. Zebrafish model. \nSources: Expert list",
"entity_name": "GLRA2",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:33:03.690724+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLRA2 as ready",
"entity_name": "GLRA2",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:33:03.678703+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glra2 has been classified as Green List (High Evidence).",
"entity_name": "GLRA2",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:32:51.515213+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLRA2 as Green List (high evidence)",
"entity_name": "GLRA2",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:32:51.503563+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glra2 has been classified as Green List (High Evidence).",
"entity_name": "GLRA2",
"entity_type": "gene"
},
{
"created": "2022-04-20T19:32:32.790096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLRA2 was added\ngene: GLRA2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: GLRA2 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: GLRA2 were set to 26370147; 20479760; 35294868\nPhenotypes for gene: GLRA2 were set to Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM#\t301076\nReview for gene: GLRA2 was set to GREEN\nAdded comment: More than 10 unrelated families reported. Both males and females affected, though some mothers are asymptomatic or mild. Zebrafish model. \nSources: Expert list",
"entity_name": "GLRA2",
"entity_type": "gene"
},
{
"created": "2022-04-20T17:27:22.394621+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13118",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FAT1 were changed from facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy to syndromic disease MONDO:0002254; facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2022-04-20T17:27:19.904893+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FASTKD2 as ready",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-20T17:27:19.893588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fastkd2 has been classified as Green List (High Evidence).",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-20T17:25:06.126215+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FASTKD2 were changed from to FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-20T17:23:43.113208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FASTKD2 were set to ",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-20T17:22:18.938130+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4686",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FASTKD2 were set to 18771761; 28499982",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-20T17:17:07.554606+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4685",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FASTKD2 as Green List (high evidence)",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-20T17:17:07.541624+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4685",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fastkd2 has been classified as Green List (High Evidence).",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-20T17:16:26.707637+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4684",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18771761, 28499982, 31944455, 34234304; Phenotypes: FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-20T17:13:29.719459+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1563",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FASTKD2 were set to 18771761; 28499982",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-20T17:12:32.069529+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1562",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FASTKD2 as Green List (high evidence)",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-20T17:12:32.053931+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1562",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fastkd2 has been classified as Green List (High Evidence).",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-20T17:11:49.968760+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1561",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18771761, 28499982, 31944455, 34234304; Phenotypes: FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-20T17:09:35.945815+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18771761, 28499982, 31944455, 34234304; Phenotypes: FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-04-20T16:52:24.139495+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FASLG as ready",
"entity_name": "FASLG",
"entity_type": "gene"
},
{
"created": "2022-04-20T16:52:24.125123+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: faslg has been classified as Green List (High Evidence).",
"entity_name": "FASLG",
"entity_type": "gene"
},
{
"created": "2022-04-20T16:51:18.439014+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FASLG were changed from to autoimmune lymphoproliferative syndrome MONDO:0017979",
"entity_name": "FASLG",
"entity_type": "gene"
},
{
"created": "2022-04-20T16:48:31.972522+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FASLG were set to ",
"entity_name": "FASLG",
"entity_type": "gene"
},
{
"created": "2022-04-20T16:43:38.261196+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13113",
"user_name": "Bryony Thompson",
"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": "2022-04-20T16:42:19.560750+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13112",
"user_name": "Bryony Thompson",
"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": "2022-04-20T16:04:47.636304+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13112",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8504309; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2022-04-20T15:55:58.851101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FAS as ready",
"entity_name": "FAS",
"entity_type": "gene"
},
{
"created": "2022-04-20T15:55:58.837796+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fas has been classified as Green List (High Evidence).",
"entity_name": "FAS",
"entity_type": "gene"
},
{
"created": "2022-04-20T15:45:28.655020+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FAS were changed from to autoimmune lymphoproliferative syndrome MONDO:0017979",
"entity_name": "FAS",
"entity_type": "gene"
},
{
"created": "2022-04-20T15:42:35.176993+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FAS were set to ",
"entity_name": "FAS",
"entity_type": "gene"
},
{
"created": "2022-04-20T15:37:22.834050+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAS was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FAS",
"entity_type": "gene"
},
{
"created": "2022-04-20T15:32:50.620596+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FARSB as ready",
"entity_name": "FARSB",
"entity_type": "gene"
},
{
"created": "2022-04-20T15:32:50.607128+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: farsb has been classified as Green List (High Evidence).",
"entity_name": "FARSB",
"entity_type": "gene"
},
{
"created": "2022-04-20T15:32:13.857306+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FAS: Rating: ; Mode of pathogenicity: None; Publications: 7540117, 7539157, 15459302, 33995372, 34171534; Phenotypes: autoimmune lymphoproliferative syndrome MONDO:0017979; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FAS",
"entity_type": "gene"
},
{
"created": "2022-04-20T15:21:31.458221+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FARSB were changed from to Rajab interstitial lung disease with brain calcifications 1 MONDO:0100215",
"entity_name": "FARSB",
"entity_type": "gene"
},
{
"created": "2022-04-20T15:10:25.245934+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FARSB were set to ",
"entity_name": "FARSB",
"entity_type": "gene"
},
{
"created": "2022-04-20T15:03:41.818261+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FARSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FARSB",
"entity_type": "gene"
},
{
"created": "2022-04-20T14:58:03.211242+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573043, 30014610, 29979980; Phenotypes: Rajab interstitial lung disease with brain calcifications 1 MONDO:0100215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FARSB",
"entity_type": "gene"
},
{
"created": "2022-04-20T14:56:36.649668+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FARS2 as ready",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-04-20T14:56:36.638605+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fars2 has been classified as Green List (High Evidence).",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-04-20T14:46:31.871408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FARS2 were changed from to combined oxidative phosphorylation defect type 14 MONDO:0013986; hereditary spastic paraplegia 77 MONDO:0014882",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-04-20T14:41:31.391144+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13105",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FARS2 were set to ",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-04-20T14:40:04.482514+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-04-20T14:33:53.132194+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13103",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901948; Phenotypes: Achromatopsia 6 - MIM#610024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2022-04-20T14:20:39.517268+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30250868, 30177229, 29126765, 28043061; Phenotypes: combined oxidative phosphorylation defect type 14 MONDO:0013986, hereditary spastic paraplegia 77 MONDO:0014882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-04-20T14:19:51.490282+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FAM58A as ready",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2022-04-20T14:19:51.473817+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam58a has been classified as Green List (High Evidence).",
"entity_name": "FAM58A",
"entity_type": "gene"
}
]
}