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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=737",
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"results": [
{
"created": "2022-10-03T11:59:35.447457+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETFDH.",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:59:27.779601+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ETFDH as Red List (low evidence)",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:59:27.770941+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfdh has been classified as Red List (Low Evidence).",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:58:58.057327+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ETFDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIC, MIM#231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:57:37.894173+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: ETFDH.",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:57:03.688521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETFDH.",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:56:32.693613+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETFDH as ready",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:56:32.683809+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfdh has been classified as Green List (High Evidence).",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:56:27.019460+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETFDH were changed from Glutaric acidemia IIC, MIM#231680 to Glutaric acidemia IIC, MIM#231680",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:56:22.624998+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ETFDH were set to ",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:56:05.363248+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETFDH.",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:55:54.257713+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETFDH.",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:55:40.310285+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904027; Phenotypes: Glutaric acidemia IIC, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:50:25.265213+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HADHB.",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:47:24.298947+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HADHB.",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:46:46.812638+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HADHB.",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:46:19.685913+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: HADHB.",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:45:57.193475+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HADHB.",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:45:01.527403+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HADHB.",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:44:18.063156+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: HADHB.",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:41:23.839776+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HADHB.",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:40:53.268514+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HADHB.",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:40:30.924278+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADHB as ready",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:40:30.915209+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadhb has been classified as Green List (High Evidence).",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:40:13.136248+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HADHB.",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-10-03T11:39:50.414850+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trifunctional protein deficiency, MIM# 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-10-02T21:02:00.995647+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HADHA.",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-10-02T21:01:39.749039+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HADHA.",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-10-02T21:00:35.575013+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HADHA.",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:59:55.038696+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: HADHA.",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:59:35.687567+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HADHA.",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:58:27.404261+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HADHA.",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:58:07.583857+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: HADHA.",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:54:54.857245+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HADHA.",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:54:29.468059+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADHA as ready",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:54:29.459586+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadha has been classified as Green List (High Evidence).",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:54:24.350067+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HADHA were set to ",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:54:02.899865+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nClinical presentation is characterised by early-onset cardiomyopathy, hypoglycaemia, neuropathy, and pigmentary retinopathy, and sudden death\r\n\r\nTreatment: IV glucose during acute episodes, avoid fasting, carnitine, restrict LCFA, bezafibrate, triheptanoin; to: Well established gene-disease association.\r\n\r\nClinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy.\r\n\r\nTreatment: IV glucose during acute episodes, avoid fasting, carnitine, restrict LCFA, bezafibrate, triheptanoin",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:53:38.985015+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HADHA.",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:53:08.784843+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HADHA.",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:52:53.574271+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30029694; Phenotypes: LCHAD deficiency, MIM# 609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:40:09.966267+11:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MMAB.",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:39:50.871756+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MMAB.",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:39:27.884891+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MMAB.",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:39:06.298299+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MMAB.",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:38:21.455758+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MMAB.",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:37:05.367573+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MMAB.",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:36:53.222275+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblB type, MIM# 251110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:34:18.436359+11:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MMAA.",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:33:26.371901+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MMAA.",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:33:05.112141+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MMAA.",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:32:44.189954+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MMAA.",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:32:07.086306+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MMAA.",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:31:41.832191+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMAA as ready",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:31:41.781811+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmaa has been classified as Green List (High Evidence).",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:31:34.081611+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MMAA.",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:31:14.513597+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:23:40.457811+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MUT as ready",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:23:40.449349+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mut has been classified as Green List (High Evidence).",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:20:04.502230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: MUT.",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:18:41.655826+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MUT.",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:18:22.159850+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MUT.",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:17:55.089350+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MUT.",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:17:29.631549+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MUT.",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:16:13.821559+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MUT.",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:15:54.138007+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MUT were changed from Methylmalonic aciduria, mut(0) type, MIM#\t251000; Methylmalonic aciduria, mut(0) type to Methylmalonic aciduria, mut(0) type, MIM#\t251000",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:15:35.932145+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MUT.",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:15:21.671719+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, mut(0) type, MIM# 251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:10:39.419657+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACADM.",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:09:38.707347+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACADM.",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-10-02T20:08:51.620357+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: ACADM.",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-10-02T15:38:09.407203+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACADM.",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-10-02T15:37:46.867623+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag acadm was removed from gene: ACADM.\nTag treatable tag was added to gene: ACADM.",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-10-02T15:37:20.037677+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag acadm tag was added to gene: ACADM.",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-10-02T15:36:15.099006+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag acadm was removed from gene: ACADM.\nTag treatable tag was added to gene: ACADM.",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-10-02T15:34:38.016541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag acadm tag was added to gene: ACADM.",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-10-02T15:33:31.093203+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACADM.",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-10-02T15:33:04.418881+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADM as ready",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-10-02T15:33:04.410725+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadm has been classified as Green List (High Evidence).",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-10-02T15:32:45.108722+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACADM.",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-10-02T15:32:27.487634+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-10-01T08:24:35.907540+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: ZMPSTE24: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28050601; Phenotypes: Restrictive dermopathy 1 MIM:275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2022-10-01T08:08:09.213011+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n \r\nSevere, causes blindness in the majority in early childhood but variable. Connective tissue disease spectrum. Can cause ocular rupture.\r\n \r\nTreatment: lifestyle modification (rupture can occur from minor trauma), protective eyewear and avoidance of contact sports and activities, different surgical techniques have been tried in patients with variable success; to: Well established gene-disease association.\r\n \r\nSevere, causes blindness in the majority in early childhood but variable. Corneal thinning. Connective tissue disease spectrum, can have systemic features. Ocular rupture causes blindness.\r\n \r\nTreatment: lifestyle modification (rupture can occur from minor trauma), protective eyewear and avoidance of contact sports and activities, different surgical techniques have been tried in patients with variable success",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2022-10-01T08:03:58.870898+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n \r\nSevere, can cause blindness in early childhood but variable. Connective tissue disease spectrum. Can cause ocular rupture.\r\n \r\nTreatment: no, only lifestyle modification (rupture can occur from minor trauma) and protective eyewear.; to: Well established gene-disease association.\r\n \r\nSevere, causes blindness in the majority in early childhood but variable. Connective tissue disease spectrum. Can cause ocular rupture.\r\n \r\nTreatment: lifestyle modification (rupture can occur from minor trauma), protective eyewear and avoidance of contact sports and activities, different surgical techniques have been tried in patients with variable success",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2022-09-30T21:11:09.022891+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: ZNF469: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31496642; Phenotypes: Brittle cornea syndrome 229200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2022-09-30T15:09:42.751641+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MLC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: megalencephalic leukoencephalopathy with subcortical cysts-1 (MLC1); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2022-09-30T11:06:37.156597+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.121",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NANS was added\ngene: NANS was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NANS were set to 34163424\nPhenotypes for gene: NANS were set to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type-MIM#610442; NANS-CDG\nReview for gene: NANS was set to GREEN\nAdded comment: Short stature with short limbs is a feature of this condition with intrauterine growth restriction of the limbs reported. \nSources: Literature, Expert list",
"entity_name": "NANS",
"entity_type": "gene"
},
{
"created": "2022-09-30T10:55:45.241004+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.121",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NBAS was added\ngene: NBAS was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NBAS were set to 33042920\nPhenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly - MIM#614800\nReview for gene: NBAS was set to GREEN\nAdded comment: Antenatal detection of limb shortening has been reported. \nSources: Expert list, Literature",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2022-09-30T10:29:13.583534+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.121",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NPR2 was added\ngene: NPR2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPR2 were set to 31555216; 16384845; 15146390; 22870295; 24057292; 24259409; 16384845; 24471569\nPhenotypes for gene: NPR2 were set to Acromesomelic dysplasia 1, Maroteaux type - MIM#602875\nReview for gene: NPR2 was set to GREEN\nAdded comment: Biallelic LoF variants associated with AMDM, a disorder characterised by severe dwarfism with disproportionate shortening of the middle and distal segments of the limbs. Shortening of the limbs may be detected antenatally. \nSources: Expert list, Literature",
"entity_name": "NPR2",
"entity_type": "gene"
},
{
"created": "2022-09-30T10:15:27.349586+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MKS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2022-09-30T10:12:54.306373+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MKKS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: McKusick-Kaufman syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2022-09-30T10:06:59.525971+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "David Amor",
"item_type": "entity",
"text": "changed review comment from: Gene-disease association: strong but <1% of all CMS (very rare)\r\n\r\nOnset:infancy or childhood\r\n\r\nTreatment: Not clear that there is any treatment that helps, but early diagnosis may still be useful; to: Gene-disease association: strong but <1% of all CMS (very rare)\r\n\r\nOnset:infancy or childhood\r\n\r\nTreatment: Not clear that there is any treatment that helps, but early diagnosis may still be useful",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2022-09-30T10:01:47.188013+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "David Amor",
"item_type": "entity",
"text": "edited their review of gene: LAMB3: Changed rating: RED",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2022-09-30T10:01:02.067976+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "David Amor",
"item_type": "entity",
"text": "changed review comment from: Gene-disease association: well established\r\n\r\nAge of onset: congenital\r\n\r\nTreatment: non specific but early detection may be beneficial; to: Gene-disease association: well established\r\n\r\nAge of onset: congenital\r\n\r\nTreatment: non specific but early detection may be beneficial",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2022-09-30T09:59:38.050513+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "David Amor",
"item_type": "entity",
"text": "edited their review of gene: LAMA2: Changed rating: RED",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-09-30T09:58:55.522687+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wardenburg syndrome type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2022-09-30T09:54:11.202263+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MGP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Keutel syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2022-09-30T08:30:39.198853+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MGAT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CDG-IIa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2022-09-30T08:26:56.161310+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MFSD8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neuronal ceroid lipofuscinosis-7 (CLN7); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2022-09-30T08:21:14.979881+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.270",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth Neuropathy; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "MFN2",
"entity_type": "gene"
}
]
}