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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=698",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=696",
"results": [
{
"created": "2022-11-09T17:40:12.268269+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACVRL1 as Green List (high evidence)",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:40:12.248152+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acvrl1 has been classified as Green List (High Evidence).",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:40:03.626593+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: ACVRL1.",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:39:54.972153+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nVariable age of symptom onset and severity.\r\n\r\nNo specific treatment available.\r\n\r\nHowever, management guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.; to: Well established gene-disease association.\r\n\r\nVariable age of symptom onset and severity.\r\n\r\nNo specific treatment available but emboli zing AVMs alters their natural history.\r\n\r\nManagement guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:39:27.442563+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACVRL1: Changed rating: GREEN",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:37:40.140881+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: PCBD1.",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:37:25.343825+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nPresents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.\r\n; to: Well established gene-disease association.\r\n\r\nPresents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.\r\n",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:34:45.851731+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GFPT1 as ready",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:34:45.841538+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfpt1 has been classified as Red List (Low Evidence).",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:34:37.323104+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GFPT1 as Red List (low evidence)",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:34:37.314211+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfpt1 has been classified as Red List (Low Evidence).",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:34:26.292627+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GFPT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, MIM#610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:33:03.593268+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: GFPT1.",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:32:15.066728+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GFM1 as ready",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:32:15.052992+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfm1 has been classified as Red List (Low Evidence).",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:32:10.915957+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GFM1 were changed from Combined oxidative phosphorylation deficiency 1 to Combined oxidative phosphorylation deficiency 1, MIM#609060",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:31:58.899113+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GFM1 as Red List (low evidence)",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:31:58.888489+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfm1 has been classified as Red List (Low Evidence).",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:31:47.844090+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GFM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 1, MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:29:50.953220+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GFAP as ready",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:29:50.945452+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfap has been classified as Amber List (Moderate Evidence).",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:29:46.326193+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GFAP were changed from Alexander disease to Alexander disease, MIM#203450",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:29:31.913359+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GFAP as Amber List (moderate evidence)",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:29:31.899034+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfap has been classified as Amber List (Moderate Evidence).",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:28:52.314137+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: GFAP.\nTag clinical trial tag was added to gene: GFAP.",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:28:38.332927+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GFAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alexander disease, MIM#203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:26:13.413640+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PALB2 as ready",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:26:13.404222+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: palb2 has been classified as Green List (High Evidence).",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:25:56.561842+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group N, OMIM 610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:24:30.716760+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHCR7 as Green List (high evidence)",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:24:30.708050+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Green List (High Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:24:18.292659+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nPerinatal onset.\r\n\r\nCholesterol supplementation accepted as standard treatment. Questionable to what extent treatment improves outcomes. Not listed as treatable on rx-genes.\r\n\r\nFor review.; to: Well established gene-disease association.\r\n\r\nPerinatal onset.\r\n\r\nCholesterol supplementation accepted as standard treatment. Questionable to what extent treatment improves outcomes but some improvement seen in metabolic parameters, and behavioural manifestations.\r\n\r\n",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:23:20.931023+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nPerinatal onset.\r\n\r\nQuestionable to what extent treatment improves outcomes. Not listed as treatable on rx-genes.\r\n\r\nFor review.; to: Well established gene-disease association.\r\n\r\nPerinatal onset.\r\n\r\nCholesterol supplementation accepted as standard treatment. Questionable to what extent treatment improves outcomes. Not listed as treatable on rx-genes.\r\n\r\nFor review.",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:22:43.405350+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DHCR7: Changed rating: GREEN",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:22:14.407815+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: DHCR7.",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:18:02.719690+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SERPINA1 as Red List (low evidence)",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:18:02.708195+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpina1 has been classified as Red List (Low Evidence).",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:17:54.527006+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: SERPINA1.",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:17:45.459196+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SERPINA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:13:32.827508+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UROD as Red List (low evidence)",
"entity_name": "UROD",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:13:32.818853+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: urod has been classified as Red List (Low Evidence).",
"entity_name": "UROD",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:10:27.314441+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDB2 were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:10:12.556305+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDB2 were set to ",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:09:57.419450+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDB2 as Red List (low evidence)",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:09:57.409787+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddb2 has been classified as Red List (Low Evidence).",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:09:45.862035+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DDB2: Changed rating: RED",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-11-09T15:25:47.161801+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.851",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Tag for review tag was added to gene: GFPT1.",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2022-11-09T15:25:29.906667+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.851",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, MIM#610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2022-11-09T15:18:18.543299+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.851",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Tag review tag was added to gene: GFM1.",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2022-11-09T15:18:00.209248+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.851",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: GFM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 1, MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2022-11-09T15:11:25.589512+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.851",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Tag for review tag was added to gene: GFAP.",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2022-11-09T15:10:38.669034+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.851",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alexander disease, MIM#203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2022-11-09T14:50:03.839477+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.851",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: GDAP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2K, MIM#607831, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM#607706, Charcot-Marie-Tooth disease, recessive intermediate, A, MIM#608340, Charcot-Marie-Tooth disease, type 4A, MIM#214400; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "GDAP1",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:40:19.065088+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DMPK as ready",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:40:19.052780+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmpk has been classified as Red List (Low Evidence).",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:40:11.945420+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1 to Myotonic dystrophy 1, MIM# 160900",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:39:59.388124+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DMPK as Red List (low evidence)",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:39:59.378096+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmpk has been classified as Red List (Low Evidence).",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:39:48.192585+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonic dystrophy 1, MIM# 160900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:36:56.762670+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: DDB2.",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:36:43.713829+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32530099, 32228487; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:30:29.713428+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCX as ready",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:30:29.701335+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcx has been classified as Red List (Low Evidence).",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:30:25.280556+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCX were changed from Lissencephaly, X-linked, MIM# 300067 to Lissencephaly, X-linked, MIM# 300067; Subcortical laminal heterotopia, X-linked 300067",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:30:12.894079+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DCX as Red List (low evidence)",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:30:12.885539+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcx has been classified as Red List (Low Evidence).",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:29:48.379056+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DCX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly, X-linked, MIM# 300067, Subcortical laminal heterotopia, X-linked 300067; 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": "DCX",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:28:35.320193+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCLRE1C as ready",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:28:35.311452+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dclre1c has been classified as Green List (High Evidence).",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:28:30.256572+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCLRE1C were changed from Severe combined immunodeficiency, Athabascan type, MIM#603554 to Severe combined immunodeficiency, Athabascan type MIM# 602450; Omenn syndrome, MIM# 603554",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:28:14.468531+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: DCLRE1C.",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:28:04.891384+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DCLRE1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, Athabascan type MIM# 602450, Omenn syndrome, MIM# 603554; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:24:52.895245+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A5 as ready",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:24:52.886247+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a5 has been classified as Green List (High Evidence).",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:24:44.845265+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A5 were changed from Alport syndrome to Alport syndrome 1, X-linked, MIM# 301050",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:23:58.977693+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A5 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": "COL4A5",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:23:45.356032+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COL4A5.",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:23:35.466987+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 1, X-linked, MIM# 301050; 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": "COL4A5",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:14:23.962626+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL2A1 as ready",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:14:23.953366+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col2a1 has been classified as Green List (High Evidence).",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:14:13.650901+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL2A1 were changed from Stickler syndrome to Stickler syndrome, type I, MIM# 108300",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:13:59.622347+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: COL2A1.",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:13:45.446762+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type I, MIM# 108300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:00:59.952243+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.173",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KIF5B was added\ngene: KIF5B was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF5B were set to 35342932\nPhenotypes for gene: KIF5B were set to Skeletal dysplasia, MONDO:0018230; KIF5B-related; Kyphomelic dysplasia\nReview for gene: KIF5B was set to GREEN\nAdded comment: Following review from fetal anomalies panel:\r\n\r\n4 individuals with Kyphomelic dysplasia (severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. WES found de novo heterozygous missense variants in KIF5B encoding kinesin-1 heavy chain. All variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein. No functional studies of variants.\r\n\r\nPreviously 2 animal model experiments showed that loss of function of KIF5B can cause kyphomelic dysplasia. First, chondrocyte-specific knockout of Kif5b in mice was shown to produce a disorganized growth plate, leading to bone deformity. Second, double mutants disrupting the two zebrafish kif5b caused abnormal skeletal morphogenesis and the curvature of Meckel's and ceratohyal cartilages. \nSources: Literature",
"entity_name": "KIF5B",
"entity_type": "gene"
},
{
"created": "2022-11-09T12:00:18.537983+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to HP:0012675",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-09T11:56:40.623617+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.173",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KIAA0753 was added\ngene: KIAA0753 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0753 were set to PMID: 29138412\nPhenotypes for gene: KIAA0753 were set to Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479; ?Orofaciodigital syndrome XV - MIM#617127; Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479\nReview for gene: KIAA0753 was set to GREEN\nAdded comment: Antenatal diagnosis of short limbs and narrow thorax has been reported. \nSources: Literature",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2022-11-08T14:46:08.011068+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.173",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: IHH was added\ngene: IHH was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: IHH were set to PMID: 22406540\nPhenotypes for gene: IHH were set to Acrocapitofemoral dysplasia - MIM#607778; Brachydactyly, type A1 - MIM#112500\nReview for gene: IHH was set to GREEN\nAdded comment: Antenatal diagnosis of shortened limbs and digital anomalies described. \nSources: Literature",
"entity_name": "IHH",
"entity_type": "gene"
},
{
"created": "2022-11-08T14:30:21.292967+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.173",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: HHAT was added\ngene: HHAT was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HHAT were set to 33749989\nPhenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome\t600092\nReview for gene: HHAT was set to GREEN\nAdded comment: Antenatal diagnosis of the associated skeletal dysplasia features has been reported including micromelia and narrow bell-shaped thorax. \nSources: Literature",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2022-11-08T11:43:56.188196+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.262",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DHCR7 was added\ngene: DHCR7 was added to Polydactyly. Sources: Literature\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome - MIM#270400\nReview for gene: DHCR7 was set to GREEN\nAdded comment: Biallelic variants associated with SLO, polydactyly a known phenotypic feature. \nSources: Literature",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-11-08T11:05:50.540414+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "HPO terms changed from Iron accumulation in brain, HP:0012675 to HP:0012675",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-08T11:05:10.252395+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "HPO terms changed from to Iron accumulation in brain, HP:0012675",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-08T10:49:39.265659+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-08T10:46:37.023760+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.96",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-08T10:44:12.161533+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics; Rare Disease; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-08T10:38:27.511763+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-08T10:37:15.683582+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.186",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-07T18:05:13.292821+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL5A2 as ready",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2022-11-07T18:05:13.280433+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col5a2 has been classified as Red List (Low Evidence).",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2022-11-07T18:05:06.881052+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL5A2 were changed from Ehlers-Danlos syndrome to Ehlers-Danlos syndrome, classic type, 2 MIM#130010",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2022-11-07T18:04:48.186256+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL5A2 as Red List (low evidence)",
"entity_name": "COL5A2",
"entity_type": "gene"
}
]
}