HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=868",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=866",
"results": [
{
"created": "2022-04-29T18:00:00.515360+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNGA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33633220, 32705276, 30652268, 20301590, 7479749; Phenotypes: Retinitis pigmentosa 49 MIM#613756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNGA1",
"entity_type": "gene"
},
{
"created": "2022-04-29T17:56:12.921343+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLEC7A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLEC7A",
"entity_type": "gene"
},
{
"created": "2022-04-29T15:16:18.582875+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13439",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOA5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "APOA5",
"entity_type": "gene"
},
{
"created": "2022-04-29T15:10:34.279710+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13438",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: APOA5 were changed from to Hyperchylomicronemia, late-onset MIM#144650; {Hypertriglyceridemia, susceptibility to} MIM#145750",
"entity_name": "APOA5",
"entity_type": "gene"
},
{
"created": "2022-04-29T15:10:29.972744+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13438",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: APOA5 were set to PMID: 19447388; 16200213; 11588264",
"entity_name": "APOA5",
"entity_type": "gene"
},
{
"created": "2022-04-29T15:10:23.313283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13438",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: APOA5 were set to ",
"entity_name": "APOA5",
"entity_type": "gene"
},
{
"created": "2022-04-29T15:10:19.773951+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13438",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "APOA5",
"entity_type": "gene"
},
{
"created": "2022-04-29T15:08:31.663526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13437",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: APOA5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19447388, 16200213, 11588264; Phenotypes: Hyperchylomicronemia, late-onset MIM#144650, {Hypertriglyceridemia, susceptibility to} MIM#145750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "APOA5",
"entity_type": "gene"
},
{
"created": "2022-04-29T14:15:14.984706+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13437",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: APOA2 as ready",
"entity_name": "APOA2",
"entity_type": "gene"
},
{
"created": "2022-04-29T14:15:14.972299+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13437",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: apoa2 has been classified as Red List (Low Evidence).",
"entity_name": "APOA2",
"entity_type": "gene"
},
{
"created": "2022-04-29T13:51:42.170708+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13437",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: APOA2 were changed from to Apolipoprotein A-II deficiency; {Hypercholesterolemia, familial, modifier of} MIM#143890",
"entity_name": "APOA2",
"entity_type": "gene"
},
{
"created": "2022-04-29T13:51:41.512777+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13437",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: APOA2 were set to ",
"entity_name": "APOA2",
"entity_type": "gene"
},
{
"created": "2022-04-29T13:51:32.531930+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13436",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APOA2",
"entity_type": "gene"
},
{
"created": "2022-04-29T13:51:30.270415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13436",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: APOA2 as Red List (low evidence)",
"entity_name": "APOA2",
"entity_type": "gene"
},
{
"created": "2022-04-29T13:51:30.259944+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13436",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: apoa2 has been classified as Red List (Low Evidence).",
"entity_name": "APOA2",
"entity_type": "gene"
},
{
"created": "2022-04-29T13:43:29.713213+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13435",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: APOA2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 12522687, 2107739, 25904114; Phenotypes: Apolipoprotein A-II deficiency, {Hypercholesterolemia, familial, modifier of} MIM#143890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APOA2",
"entity_type": "gene"
},
{
"created": "2022-04-29T12:56:35.673434+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13435",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: APOA1 as ready",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2022-04-29T12:56:35.661423+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13435",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: apoa1 has been classified as Green List (High Evidence).",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2022-04-29T12:53:27.290239+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13435",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: APOA1 were changed from to Amyloidosis, 3 or more types MIM#105200; Hypoalphalipoproteinemia, primary, 2 MIM#618463; Hypoalphalipoproteinemia, primary, 2, intermediate MIM#619836",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2022-04-29T12:53:16.212487+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13435",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2022-04-29T12:52:18.212574+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13434",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, 3 or more types MIM#105200, Hypoalphalipoproteinemia, primary, 2 MIM#618463, Hypoalphalipoproteinemia, primary, 2, intermediate MIM#619836; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2022-04-29T12:40:07.412899+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13434",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: AP1S2 as ready",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2022-04-29T12:40:07.401039+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13434",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ap1s2 has been classified as Green List (High Evidence).",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2022-04-29T12:37:45.884408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13434",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: AP1S2 were changed from to Mental retardation, X-linked syndromic 5, MIM#304340",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2022-04-29T12:37:33.216186+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13433",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP1S2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2022-04-29T12:18:33.823582+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.61",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: APCDD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22512811; Phenotypes: Hypotrichosis 1 MIM#605389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "APCDD1",
"entity_type": "gene"
},
{
"created": "2022-04-29T11:56:20.905302+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13432",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: APCDD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22512811; Phenotypes: Hypotrichosis 1 MIM#605389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "APCDD1",
"entity_type": "gene"
},
{
"created": "2022-04-29T11:34:04.343158+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13432",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10 MIM#613728 to Spinocerebellar ataxia, autosomal recessive 10 MIM#613728",
"entity_name": "ANO10",
"entity_type": "gene"
},
{
"created": "2022-04-29T11:21:26.181256+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13431",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ANO10 was changed from to None",
"entity_name": "ANO10",
"entity_type": "gene"
},
{
"created": "2022-04-29T11:21:15.680395+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13430",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ANO10 were changed from to Spinocerebellar ataxia, autosomal recessive 10 MIM#613728",
"entity_name": "ANO10",
"entity_type": "gene"
},
{
"created": "2022-04-29T11:21:00.945637+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13430",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ANO10 as ready",
"entity_name": "ANO10",
"entity_type": "gene"
},
{
"created": "2022-04-29T11:21:00.929191+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13430",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ano10 has been classified as Green List (High Evidence).",
"entity_name": "ANO10",
"entity_type": "gene"
},
{
"created": "2022-04-29T11:20:56.710893+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13430",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANO10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANO10",
"entity_type": "gene"
},
{
"created": "2022-04-28T22:05:59.722357+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13429",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31444792; Phenotypes: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease - MIM#209880, Neuroblastoma with Hirschsprung disease - MIM#613013; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2022-04-28T21:57:50.876645+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13429",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: 12717447, 15858711, 17336976; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, Peroxisome biogenesis disorder 7B - MIM#614873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2022-04-28T21:54:41.073300+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13429",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14630978, 10528859, 23430938, 1546315; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger) - MIM#614866, Peroxisome biogenesis disorder 5B - MIM#614867; Mode of inheritance: None",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2022-04-28T21:51:00.468680+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13429",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 10051604, 20683989, 11883941, 28391327; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2022-04-28T21:42:40.317261+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13429",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 20647552, 12223482, 9837814, 11890679; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) - MIM#614876, Peroxisome biogenesis disorder 8B - MIM#614877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2022-04-28T21:39:41.712252+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13429",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 18285423, 26627464, 21686775, 15146459; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger) - MIM#614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2022-04-28T21:31:04.697844+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13429",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger) - MIM#614883, Peroxisome biogenesis disorder 11B - MIM#614885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2022-04-28T21:29:06.729624+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13429",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859, Peroxisome biogenesis disorder 3B - MIM#266510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2022-04-28T09:47:03.202936+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ETFDH as ready",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-04-28T09:47:03.169578+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: etfdh has been classified as Green List (High Evidence).",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-04-28T09:45:44.451678+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ETFDH as Green List (high evidence)",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-04-28T09:45:44.439261+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: etfdh has been classified as Green List (High Evidence).",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-04-28T09:45:15.959931+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ETFDH was added\ngene: ETFDH was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ETFDH were set to 32608139; 35309592; 26821934\nPhenotypes for gene: ETFDH were set to Multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; sensory neuropathy\nReview for gene: ETFDH was set to GREEN\ngene: ETFDH was marked as current diagnostic\nAdded comment: Sensory neuropathy can be a feature of the condition. >10 cases with biallelic variants has been reported with sensory neuropathy confirmed with nerve conduction studies. \nSources: Literature",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:59:34.966804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DIO1 as ready",
"entity_name": "DIO1",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:59:34.953651+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dio1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DIO1",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:59:25.636666+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DIO1 were changed from to Thyroid hormone metabolism, abnormal, 2, MIM# 619855",
"entity_name": "DIO1",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:59:04.459938+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DIO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DIO1",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:58:44.964302+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DIO1 as Amber List (moderate evidence)",
"entity_name": "DIO1",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:58:44.950894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dio1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DIO1",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:58:26.143247+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DIO1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid hormone metabolism, abnormal, 2, MIM# 619855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DIO1",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:55:13.462750+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBA8 as ready",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:55:13.450987+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:55:08.903815+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBA8 as Amber List (moderate evidence)",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:55:08.891852+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:54:35.055983+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBA8 was added\ngene: TUBA8 was added to Bleeding and Platelet Disorders. Sources: Expert list\nMode of inheritance for gene: TUBA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBA8 were set to 34704371\nPhenotypes for gene: TUBA8 were set to Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840\nReview for gene: TUBA8 was set to AMBER\nAdded comment: 6 unrelated individuals with missense variants found in a large cohort of blood donors, some functional data. Individuals were generally asymptomatic, one had menorrhagia. \nSources: Expert list",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:52:21.381566+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA8 were changed from Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180 to Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:51:53.493548+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBA8 were set to 19896110; 31481326; 28388629",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:51:26.136733+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBA8 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:51:06.535620+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBA8 as Amber List (moderate evidence)",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:51:06.519260+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:50:42.799494+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two families reported initially (PMID 19896110). However, note that mouse model does not have a brain phenotype and WES in the original families identified homozygous, previously reported as pathogenic, LoF variant in SNAP29, which is much more likely to be causative (28388629).; to: Bi-allelic variants and cortical dysplasia: Two families reported initially (PMID 19896110). However, note that mouse model does not have a brain phenotype and WES in the original families identified homozygous, previously reported as pathogenic, LoF variant in SNAP29, which is much more likely to be causative (28388629).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:50:23.116642+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TUBA8: Added comment: Mono-allelic variants and macrothrombocytopaenia: 6 unrelated individuals with missense variants found in a large cohort of blood donors, some functional data. Individuals were generally asymptomatic.; Changed rating: AMBER; Changed publications: 34704371; Changed phenotypes: Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:45:58.142136+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NRCAM were changed from Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833 to Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:45:36.637202+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NRCAM were changed from neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:45:00.484252+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NRCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:44:15.814763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NRCAM were changed from neurodevelopmental disorder, NRCAM-related, MONDO:0700092 to Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:43:04.409580+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NRCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:41:54.415682+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDC42BPB were changed from Central hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior; Behavioral abnormality to Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841",
"entity_name": "CDC42BPB",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:41:18.098659+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDC42BPB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDC42BPB",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:40:36.931135+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDC42BPB were changed from Central hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior; Behavioral abnormality to Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841",
"entity_name": "CDC42BPB",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:39:57.394752+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDC42BPB: Changed rating: AMBER; Changed phenotypes: Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDC42BPB",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:39:09.076699+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDC42BPB were changed from Central hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior; Behavioral abnormality to Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841",
"entity_name": "CDC42BPB",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:38:42.808963+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDC42BPB: Changed phenotypes: Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841",
"entity_name": "CDC42BPB",
"entity_type": "gene"
},
{
"created": "2022-04-28T08:18:07.115696+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.25",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35471564; Phenotypes: spastic paraplegia, intellectual disability, white matter abnormalities on MRI; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:48:04.413925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX3 as ready",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:48:04.403687+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex3 has been classified as Green List (High Evidence).",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:47:53.216008+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX3 were changed from to Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882; Peroxisome biogenesis disorder 10B , MIM# 617370",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:47:29.969127+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX3 were set to ",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:47:05.444370+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:46:42.696349+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10942428, 10958759, 10968777, 27557811, 33101983; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882, Peroxisome biogenesis disorder 10B , MIM# 617370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:36:12.529393+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX5 as ready",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:36:12.513784+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex5 has been classified as Green List (High Evidence).",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:36:04.430824+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX5 were changed from to Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Peroxisome biogenesis disorder 2B, MIM# 202370; Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:33:38.081422+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX5 were set to ",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:33:01.442595+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:32:23.750851+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7719337, 26220973, 20301621; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110, Peroxisome biogenesis disorder 2B, MIM# 202370, Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:31:06.925901+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX5 as ready",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:31:06.909017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex5 has been classified as Green List (High Evidence).",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:30:57.269150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX5 were changed from to Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Peroxisome biogenesis disorder 2B, MIM# 202370; Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:29:58.150312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX5 were set to ",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:29:37.890878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:29:18.217155+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7719337, 26220973, 20301621; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110, Peroxisome biogenesis disorder 2B, MIM# 202370, Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:22:20.474819+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX7 as ready",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:22:20.465031+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex7 has been classified as Green List (High Evidence).",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:20:18.528419+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX7 were changed from to Peroxisome biogenesis disorder 9B, MIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:19:42.720138+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX7 were set to ",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2022-04-28T07:19:05.104391+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX7",
"entity_type": "gene"
}
]
}