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{
"count": 220817,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=731",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=729",
"results": [
{
"created": "2022-10-06T11:17:41.202956+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMB3 were changed from Epidermolysis bullosa, junctional to Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:17:28.351831+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMB3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:17:17.909926+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMB3 as Red List (low evidence)",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:17:17.900551+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamb3 has been classified as Red List (Low Evidence).",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:16:42.493229+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMA2 as ready",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:16:42.484120+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama2 has been classified as Red List (Low Evidence).",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:16:38.733175+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital merosin-deficient to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:16:26.986909+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMA2 as Red List (low evidence)",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:16:26.977953+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama2 has been classified as Red List (Low Evidence).",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:15:45.868277+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MITF as ready",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:15:45.859110+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mitf has been classified as Green List (High Evidence).",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:15:42.432020+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MITF were changed from Waardenburg syndrome to Waardenburg syndrome, type 2A, MIM# 193510; Deafness",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:15:27.479677+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:15:12.820570+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 2A, MIM# 193510, Deafness; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:12:47.386519+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MGP as ready",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:12:47.373394+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mgp has been classified as Red List (Low Evidence).",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:12:43.884507+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MGP were changed from Keutel syndrome to Keutel syndrome, MIM #245150",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:12:31.491318+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MGP as Red List (low evidence)",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:12:31.482826+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mgp has been classified as Red List (Low Evidence).",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:12:20.199940+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MGP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Keutel syndrome, MIM #245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:11:24.690406+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MGAT2 as ready",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:11:24.682212+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mgat2 has been classified as Red List (Low Evidence).",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:11:14.129736+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MGAT2 as Red List (low evidence)",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:11:14.119221+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mgat2 has been classified as Red List (Low Evidence).",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:11:02.309643+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MGAT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:04:11.906033+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFSD8 as ready",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:04:11.890967+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfsd8 has been classified as Red List (Low Evidence).",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:04:05.962892+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:03:50.352673+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MFSD8 were set to ",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:02:12.573175+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MFSD8 as Red List (low evidence)",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:02:12.564238+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfsd8 has been classified as Red List (Low Evidence).",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2022-10-06T11:02:01.256192+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MFSD8: Rating: RED; Mode of pathogenicity: None; Publications: 31597037; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:59:44.624664+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFN2 as ready",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:59:44.615586+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfn2 has been classified as Red List (Low Evidence).",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:59:41.329460+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087; Hereditary motor and sensory neuropathy VIA, OMIM #601152",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:56:59.749425+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MFN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:56:49.321484+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MFN2 as Red List (low evidence)",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:56:49.313239+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfn2 has been classified as Red List (Low Evidence).",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:56:39.213348+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087, Hereditary motor and sensory neuropathy VIA, OMIM #601152; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:55:46.889147+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEN1 as ready",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:55:46.877548+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: men1 has been classified as Green List (High Evidence).",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:55:43.083234+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEN1 were changed from Multiple endocrine neoplasia I to Multiple endocrine neoplasia 1, MIM#131100",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:55:26.938165+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: MEN1.",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:55:16.494333+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia 1, MIM#131100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:54:08.453205+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEGF10 as ready",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:54:08.445226+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: megf10 has been classified as Red List (Low Evidence).",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:54:00.746731+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEGF10 were changed from Myopathy, areflexia, respiratory distress, and dysphagia, early-onset to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:53:46.300301+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MEGF10 as Red List (low evidence)",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:53:46.291567+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: megf10 has been classified as Red List (Low Evidence).",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:53:34.251225+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MEGF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:52:44.861863+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEFV as ready",
"entity_name": "MEFV",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:52:44.849861+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mefv has been classified as Green List (High Evidence).",
"entity_name": "MEFV",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:48:36.190343+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEFV were changed from Mediterranean fever, familial to Familial Mediterranean fever MIM# 249100",
"entity_name": "MEFV",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:48:23.111262+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: MEFV.",
"entity_name": "MEFV",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:48:13.792267+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial Mediterranean fever MIM# 249100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MEFV",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:46:00.786172+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED25 as ready",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:46:00.775038+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med25 has been classified as Red List (Low Evidence).",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:45:50.862011+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED25 as Red List (low evidence)",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:45:50.853654+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med25 has been classified as Red List (Low Evidence).",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:45:38.926154+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED25: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:44:47.982993+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED12 as ready",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:44:47.974642+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med12 has been classified as Red List (Low Evidence).",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:44:43.880223+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED12 were changed from Intellectual disability to Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450; Hardikar syndrome, MIM# 301068",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:44:26.973664+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED12 as Red List (low evidence)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:44:26.958218+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med12 has been classified as Red List (Low Evidence).",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:44:14.951515+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ohdo syndrome, X-linked MIM#300895, Lujan-Fryns syndrome MIM#309520, Opitz-Kaveggia syndrome MIM#305450, Hardikar syndrome, MIM# 301068; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:42:56.440200+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MECP2 as ready",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:42:56.431623+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecp2 has been classified as Red List (Low Evidence).",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:42:50.942847+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MECP2 were changed from Rett syndrome to MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:42:38.671361+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MECP2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:42:27.409769+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MECP2 as Red List (low evidence)",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:42:27.400837+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecp2 has been classified as Red List (Low Evidence).",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:42:16.103504+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MECP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055; 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": "MECP2",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:41:15.706500+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCPH1 as ready",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:41:15.698194+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcph1 has been classified as Red List (Low Evidence).",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:41:11.985601+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCPH1 were changed from Microcephaly 1, primary, autosomal recessive to Microcephaly 1, primary, autosomal recessive, MIM# 251200",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:40:54.706271+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:40:27.460831+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCPH1 as Red List (low evidence)",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:40:27.451653+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcph1 has been classified as Red List (Low Evidence).",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:39:38.464430+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEFV as ready",
"entity_name": "MEFV",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:39:38.456193+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mefv has been classified as Amber List (Moderate Evidence).",
"entity_name": "MEFV",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:38:54.016134+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ8B as ready",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:38:54.006490+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq8b has been classified as Green List (High Evidence).",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:38:45.463642+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: COQ8B.",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:38:36.195913+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COQ8B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 9 MIM#615573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:31:19.345080+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ8A as ready",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:31:19.336736+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq8a has been classified as Green List (High Evidence).",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:31:15.449281+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ8A were set to ",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:30:54.957276+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COQ8A.",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:30:38.014337+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COQ8A.",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:30:19.526624+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COQ8A.",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:30:00.288147+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COQ8A.",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:29:42.831327+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COQ8A.",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:29:25.876591+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COQ8A.",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:29:00.385020+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COQ8A.",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:28:40.138833+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COQ8A.",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:28:29.913321+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32337771; Phenotypes: Coenzyme Q10 deficiency, primary, 4 MIM#612016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:26:55.480721+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ7 as ready",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:26:55.470905+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq7 has been classified as Green List (High Evidence).",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:26:46.085641+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: COQ7.",
"entity_name": "COQ7",
"entity_type": "gene"
}
]
}