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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=831",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=829",
"results": [
{
"created": "2022-05-19T20:35:01.519208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLE1 were changed from to Lethal congenital contracture syndrome 1, MIM# 253310",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:34:36.616471+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLE1 were set to ",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:34:09.955347+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:33:50.435062+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: GLE1.",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:32:47.935080+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLIS3 as ready",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:32:47.923237+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glis3 has been classified as Green List (High Evidence).",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:32:38.006754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLIS3 were changed from to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:32:10.175237+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLIS3 were set to ",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:31:45.320375+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLIS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:31:18.567475+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21139041, 35410112, 35394098, 34093443; Phenotypes: Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:28:45.522615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLUL as ready",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:28:45.511153+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glul has been classified as Green List (High Evidence).",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:28:31.448293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLUL were changed from to Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:28:08.572082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLUL were set to ",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:27:40.592610+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLUL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:26:55.137577+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLYCTK as ready",
"entity_name": "GLYCTK",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:26:55.125299+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glyctk has been classified as Green List (High Evidence).",
"entity_name": "GLYCTK",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:26:46.146355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLYCTK were changed from to D-glyceric aciduria MIM#220120; Disorders of serine, glycine or glycerate metabolism",
"entity_name": "GLYCTK",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:26:08.729065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLYCTK were set to ",
"entity_name": "GLYCTK",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:25:08.292531+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLYCTK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLYCTK",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:24:09.608481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GMPPA as ready",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:24:09.595827+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmppa has been classified as Green List (High Evidence).",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:23:55.543797+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GMPPA were changed from to Alacrima, achalasia, and mental retardation syndrome, MIM# 615510",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:23:28.452047+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GMPPA were set to ",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:22:59.898677+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GMPPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:22:39.365719+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GMPPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24035193, 28574218; Phenotypes: Alacrima, achalasia, and mental retardation syndrome, MIM# 615510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:21:06.067445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GMPPB as ready",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:21:06.053620+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmppb has been classified as Green List (High Evidence).",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:20:56.966140+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GMPPB were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:20:34.413207+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GMPPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:20:12.434031+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:18:48.621903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAS as ready",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:18:48.609696+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnas has been classified as Green List (High Evidence).",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:18:39.661901+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAS were changed from to Osseous heteroplasia, progressive (166350) AD; Pituitary adenoma 3, multiple types, somatic (617686); Pseudohypoparathyroidism Ia (103580) AD; Pseudohypoparathyroidism Ib (603233) AD; Pseudohypoparathyroidism Ic (612462) AD; Pseudopseudohypoparathyroidism (612463)",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:18:13.934049+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2022-05-19T20:17:54.722626+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osseous heteroplasia, progressive (166350) AD, Pituitary adenoma 3, multiple types, somatic (617686), Pseudohypoparathyroidism Ia (103580) AD, Pseudohypoparathyroidism Ib (603233) AD, Pseudohypoparathyroidism Ic (612462) AD, Pseudopseudohypoparathyroidism (612463); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:50:21.804308+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAT1 as ready",
"entity_name": "GNAT1",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:50:21.792200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnat1 has been classified as Green List (High Evidence).",
"entity_name": "GNAT1",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:50:13.400614+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAT1 were changed from to Night blindness, congenital stationary, autosomal dominant 3, MIM# 610444; Night blindness, congenital stationary, type 1G, MIM# 616389",
"entity_name": "GNAT1",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:49:52.767365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAT1 were set to ",
"entity_name": "GNAT1",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:49:31.513219+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GNAT1",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:49:10.564657+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8673138, 17584859, 22190596, 26472407, 11095744, 11095744, 30051303; Phenotypes: Night blindness, congenital stationary, autosomal dominant 3, MIM# 610444, Night blindness, congenital stationary, type 1G, MIM# 616389; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GNAT1",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:44:44.217630+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNB3 as ready",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:44:44.198182+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnb3 has been classified as Green List (High Evidence).",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:44:35.703893+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNB3 were changed from to Night blindness, congenital stationary, type 1H, MIM# 617024",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:44:10.596882+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNB3 were set to ",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:43:49.299922+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:43:24.195331+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27063057, 17065478; Phenotypes: Night blindness, congenital stationary, type 1H, MIM# 617024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:42:05.311238+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNMT as ready",
"entity_name": "GNMT",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:42:05.299710+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnmt has been classified as Green List (High Evidence).",
"entity_name": "GNMT",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:41:56.636356+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNMT were changed from to Glycine N-methyltransferase deficiency MIM#606664; Disorders of the metabolism of sulphur amino acids",
"entity_name": "GNMT",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:41:35.223483+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNMT were set to ",
"entity_name": "GNMT",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:41:13.114035+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNMT",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:40:23.055209+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GOSR2 as ready",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:40:23.041719+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gosr2 has been classified as Green List (High Evidence).",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:40:13.677638+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GOSR2 were changed from to Epilepsy, progressive myoclonic 6 , MIM#614018",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:39:52.675898+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GOSR2 were set to ",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:39:30.413568+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GOSR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:39:09.758109+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21549339, 24458321, 30363482; Phenotypes: Epilepsy, progressive myoclonic 6 , MIM#614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:37:12.952187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GOT1 as ready",
"entity_name": "GOT1",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:37:12.940796+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: got1 has been classified as Red List (Low Evidence).",
"entity_name": "GOT1",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:37:04.006860+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GOT1 were changed from to Aspartate aminotransferase, serum level of, QTL1, MIM# 614419",
"entity_name": "GOT1",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:36:41.554778+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GOT1 as Red List (low evidence)",
"entity_name": "GOT1",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:36:41.539636+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: got1 has been classified as Red List (Low Evidence).",
"entity_name": "GOT1",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:36:18.385230+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GOT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aspartate aminotransferase, serum level of, QTL1, MIM# 614419; Mode of inheritance: None",
"entity_name": "GOT1",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:35:12.276665+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPC4 as ready",
"entity_name": "GPC4",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:35:12.264930+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpc4 has been classified as Green List (High Evidence).",
"entity_name": "GPC4",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:35:03.159775+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPC4 were changed from to Keipert syndrome OMIM# 301026",
"entity_name": "GPC4",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:34:38.711822+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPC4 were set to ",
"entity_name": "GPC4",
"entity_type": "gene"
},
{
"created": "2022-05-19T18:34:17.994045+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPC4 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": "GPC4",
"entity_type": "gene"
},
{
"created": "2022-05-19T17:17:04.383306+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14592",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "GPNMB",
"entity_type": "gene"
},
{
"created": "2022-05-19T17:16:43.559137+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14592",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: GPNMB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31226264, 29336782, 31260093, 34551863, 33687658; Phenotypes: Amyloidosis, primary localized cutaneous, 3 - MIM#617920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPNMB",
"entity_type": "gene"
},
{
"created": "2022-05-19T16:30:26.442766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14592",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18204449, 22357925; Phenotypes: Lethal congenital contracture syndrome 1, MIM# 253310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2022-05-19T16:30:25.434127+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.342",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18204449, 22357925; Phenotypes: Lethal congenital contracture syndrome 1, MIM# 253310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2022-05-19T16:30:08.214657+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.275",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18204449, 22357925; Phenotypes: Lethal congenital contracture syndrome 1, MIM# 253310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2022-05-19T16:27:04.855611+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14592",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23972370, 27081547, 32573726, 32992168, 34611981, 33834622, 32669404, 26056270, 23972370; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5 OMIM # 615506, pulmonary arteriovenous malformations; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2022-05-19T16:13:16.186681+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14592",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GCNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15161861, 27936067, 12424189, 28224043; Phenotypes: Cataract 13 with adult i phenotype, OMIM # 116700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GCNT2",
"entity_type": "gene"
},
{
"created": "2022-05-19T16:13:15.431923+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.339",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GCNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15161861, 27936067, 12424189, 28224043; Phenotypes: Cataract 13 with adult i phenotype, OMIM # 116700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GCNT2",
"entity_type": "gene"
},
{
"created": "2022-05-19T16:04:33.392789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14592",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19338053; Phenotypes: Oculodentodigital dysplasia, autosomal recessive, MIM# 257850, Oculodentodigital dysplasia, MIM# 164200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:59:20.203152+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14592",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19790256; Phenotypes: Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853), Diabetes mellitus, permanent neonatal 1, AR (MIM#606176), Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485), MODY, type II, AD (MIM#125851); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:59:16.902823+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.29",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19790256; Phenotypes: Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853), Diabetes mellitus, permanent neonatal 1, AR (MIM#606176), Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485), MODY, type II, AD (MIM#125851); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:58:46.335224+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.26",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19790256; Phenotypes: Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853), Diabetes mellitus, permanent neonatal 1, AR (MIM#606176), Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485), MODY, type II, AD (MIM#125851); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:55:10.180186+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14592",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GINS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28414293; Phenotypes: Immunodeficiency 55, OMIM #617827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GINS1",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:52:47.915185+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14592",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: GDNF as Red List (low evidence)",
"entity_name": "GDNF",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:52:47.901527+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14592",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gdnf has been classified as Red List (Low Evidence).",
"entity_name": "GDNF",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:52:24.767537+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14591",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GDNF: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 8896568, 8968758; Phenotypes: {Hirschsprung disease, susceptibility to, 3}, OMIM # 613711; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GDNF",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:47:15.357709+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4791",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: GFM2 as Green List (high evidence)",
"entity_name": "GFM2",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:47:15.345769+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4791",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gfm2 has been classified as Green List (High Evidence).",
"entity_name": "GFM2",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:46:40.188339+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4790",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GFM2 was added\ngene: GFM2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: GFM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GFM2 were set to PMID: 22700954, 26016410, 29075935\nPhenotypes for gene: GFM2 were set to Combined oxidative phosphorylation deficiency 39, OMIM #618397\nReview for gene: GFM2 was set to GREEN\nAdded comment: Combined oxidative phosphorylation deficiency-39 (COXPD39) is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. Affected individuals show global developmental delay, sometimes with regression after normal early development, axial hypotonia with limb spasticity or abnormal involuntary movements, and impaired intellectual development with poor speech. More variable features may include hypotonia, seizures, and features of Leigh syndrome on brain imaging. There are variable deficiencies of the mitochondrial respiratory chain enzyme complexes in patient tissues.\r\n\r\n4 families reported with biallelic variants with functional evidence in 1 family. \nSources: Expert list",
"entity_name": "GFM2",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:46:34.949500+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14591",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GFM2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22700954, 26016410, 29075935; Phenotypes: Combined oxidative phosphorylation deficiency 39, OMIM #618397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GFM2",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:45:17.105831+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.821",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GFM2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22700954, 26016410, 29075935; Phenotypes: Combined oxidative phosphorylation deficiency 39, OMIM #618397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GFM2",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:37:44.864403+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14591",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GDF9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29044499, 8849725, 33036707; Phenotypes: Premature ovarian failure 14, OMIM# 618014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GDF9",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:34:07.522217+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.133",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: GIGYF2 as Amber List (moderate evidence)",
"entity_name": "GIGYF2",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:34:07.510559+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.133",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gigyf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GIGYF2",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:32:27.943945+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.132",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GIGYF2 was added\ngene: GIGYF2 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: GIGYF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GIGYF2 were set to PMID: 18358451, 19449032\nPhenotypes for gene: GIGYF2 were set to {Parkinson disease 11} , OMIM # 607688\nReview for gene: GIGYF2 was set to AMBER\nAdded comment: In affected members of 12 unrelated Italian or French families with Parkinson disease-11 (PARK11; 607688), Lautier et al. (2008) identified 7 different heterozygous mutations in the GIGYF2 gene. Tan et al. (2009) identified 4 different heterozygous mutations in the GIGYF2 gene in 7 (1.6%) of 450 patients with Parkinson disease from Taiwan and Singapore. The mutations were not identified in 400 controls. Reduced penetrance seen in the families reported by both groups. No replication since. \nSources: Literature",
"entity_name": "GIGYF2",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:32:22.212842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14591",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: GIGYF2 were set to ",
"entity_name": "GIGYF2",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:29:52.508860+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.184",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: GIGYF2 as Red List (low evidence)",
"entity_name": "GIGYF2",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:29:52.497256+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.184",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gigyf2 has been classified as Red List (Low Evidence).",
"entity_name": "GIGYF2",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:29:31.447958+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.184",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: GIGYF2 as Red List (low evidence)",
"entity_name": "GIGYF2",
"entity_type": "gene"
},
{
"created": "2022-05-19T15:29:31.435565+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.184",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gigyf2 has been classified as Red List (Low Evidence).",
"entity_name": "GIGYF2",
"entity_type": "gene"
}
]
}