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=865",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=863",
"results": [
{
"created": "2022-05-02T11:25:44.249806+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033964, 30068298, 24735900; Phenotypes: Linear skin defects with multiple congenital anomalies 1, MIM# 309801; 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": "HCCS",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:23:35.712244+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HBA2 as ready",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:23:35.697534+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hba2 has been classified as Green List (High Evidence).",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:23:26.376705+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HBA2 were changed from to Erythrocytosis 7, MIM# 617981; Heinz body anaemia, MIM# 140700; Haemoglobin H disease, deletional and nondeletional, MIM# 613978; Thalassaemia, alpha-, MIM# 604131",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:23:21.671065+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4710",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: MCCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 34899149; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MIM#210210); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:23:04.271588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HBA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:22:42.844344+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: HBA2.",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:22:30.531071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrocytosis 7, MIM# 617981, Heinz body anaemia, MIM# 140700, Haemoglobin H disease, deletional and nondeletional, MIM# 613978, Thalassaemia, alpha-, MIM# 604131; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:22:14.394438+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HBA1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:20:36.912439+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HBA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:20:00.336463+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: HBA1.",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:19:49.114774+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HBA1 as ready",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:19:49.104415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hba1 has been classified as Green List (High Evidence).",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:19:20.281347+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HBA1 were changed from to Erythrocytosis 7, MIM# 617981; Heinz body anemias, alpha-, MIM# 140700; Methemoglobinemia, alpha type , MIM#617973; Thalassemias, alpha-, MIM# 604131; Hemoglobin H disease, nondeletional, MIM# 613978",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:18:59.059477+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HBA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:18:38.563272+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrocytosis 7, MIM# 617981, Heinz body anemias, alpha-, MIM# 140700, Methemoglobinemia, alpha type , MIM#617973, Thalassemias, alpha-, MIM# 604131, Hemoglobin H disease, nondeletional, MIM# 613978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:13:42.497850+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAO1 as ready",
"entity_name": "HAO1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:13:42.485427+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hao1 has been classified as Red List (Low Evidence).",
"entity_name": "HAO1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:13:29.082054+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HAO1 as Red List (low evidence)",
"entity_name": "HAO1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:13:29.070945+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hao1 has been classified as Red List (Low Evidence).",
"entity_name": "HAO1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:13:09.710156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HAO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "HAO1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:11:42.826387+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAMP as ready",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:11:42.809795+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hamp has been classified as Green List (High Evidence).",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:11:33.729059+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HAMP were changed from to Haemochromatosis, type 2B, MIM# 613313",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:11:12.155894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HAMP were set to ",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:09:54.500105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HAMP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:09:34.892191+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 12469120, 34828384, 15198949; Phenotypes: Haemochromatosis, type 2B, MIM# 613313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:03:30.109689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADHB as ready",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:03:30.082010+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13559",
"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": "2022-05-02T11:03:20.370580+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HADHB were changed from to Trifunctional protein deficiency, MIM# 609015",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:02:56.591700+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HADHB were set to ",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:02:36.903818+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HADHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:00:04.239111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30682426, 28515471; Phenotypes: Trifunctional protein deficiency, MIM# 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:59:03.007274+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADHA as ready",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:59:02.991959+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13556",
"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": "2022-05-02T10:58:49.686138+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HADHA were changed from to LCHAD deficiency, MIM# 609016; MONDO:0012173",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:58:23.387377+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HADHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:58:04.678228+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HADHA: Changed phenotypes: LCHAD deficiency, MIM# 609016, MONDO:0012173",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:57:27.964225+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LCHAD deficiency, MIM# 609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:55:34.465634+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADH as ready",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:55:34.452622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadh has been classified as Green List (High Evidence).",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:55:21.337440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HADH were changed from to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:54:57.826315+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HADH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:54:37.851449+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530, Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:53:24.949234+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HACD1 as ready",
"entity_name": "HACD1",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:53:24.896643+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hacd1 has been classified as Green List (High Evidence).",
"entity_name": "HACD1",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:53:16.369683+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HACD1 were changed from to Congenital myopathy, MONDO:0019952",
"entity_name": "HACD1",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:52:55.275307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HACD1 were set to ",
"entity_name": "HACD1",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:52:33.569282+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HACD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HACD1",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:52:13.945854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HACD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15829503, 23933735, 32426512; Phenotypes: Congenital myopathy, MONDO:0019952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HACD1",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:50:23.133721+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAAO as ready",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:50:23.123338+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: haao has been classified as Green List (High Evidence).",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:50:14.652623+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HAAO were changed from to Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660; NAD deficiency",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:49:52.562972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HAAO were set to ",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:49:30.339456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HAAO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:48:41.802085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: H6PD as ready",
"entity_name": "H6PD",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:48:41.789543+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h6pd has been classified as Green List (High Evidence).",
"entity_name": "H6PD",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:48:31.578485+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: H6PD were changed from to Cortisone reductase deficiency 1, MIM# 604931",
"entity_name": "H6PD",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:48:09.692151+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: H6PD were set to ",
"entity_name": "H6PD",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:47:08.832410+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: H6PD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "H6PD",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:46:48.698924+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: H6PD: Rating: GREEN; Mode of pathogenicity: None; Publications: 18628520; Phenotypes: Cortisone reductase deficiency 1, MIM# 604931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "H6PD",
"entity_type": "gene"
},
{
"created": "2022-05-02T10:39:01.718787+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13543",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SIK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25839329, 27966542, 35267137; Phenotypes: Developmental and epileptic encephalopathy 30, MIM#616341, developmental and epileptic encephalopathy, MONDO#0100062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:08:08.469377+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BUD23 as ready",
"entity_name": "BUD23",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:08:08.450257+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bud23 has been classified as Red List (Low Evidence).",
"entity_name": "BUD23",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:07:57.513029+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BUD23 as Red List (low evidence)",
"entity_name": "BUD23",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:07:57.502983+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bud23 has been classified as Red List (Low Evidence).",
"entity_name": "BUD23",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:07:35.134501+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BUD23: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "BUD23",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:06:16.797319+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BTNL2 as ready",
"entity_name": "BTNL2",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:06:16.784415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: btnl2 has been classified as Red List (Low Evidence).",
"entity_name": "BTNL2",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:06:07.593935+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BTNL2 were changed from to {Sarcoidosis, susceptibility to, 2} 612387",
"entity_name": "BTNL2",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:05:37.185818+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BTNL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BTNL2",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:05:18.056456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BTNL2 as Red List (low evidence)",
"entity_name": "BTNL2",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:05:18.046072+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: btnl2 has been classified as Red List (Low Evidence).",
"entity_name": "BTNL2",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:04:59.018684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BTNL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Sarcoidosis, susceptibility to, 2} 612387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BTNL2",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:03:17.555303+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BTK as ready",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:03:17.544785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: btk has been classified as Green List (High Evidence).",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:03:07.765655+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BTK were changed from to Agammaglobulinaemia, X-linked 1, MIM# 300755; Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:02:47.805642+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BTK were set to ",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:02:28.658044+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BTK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:02:09.493663+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: BTK: Well established gene-disease association with agammaglobulinaemia, >100 families reported.\r\n\r\nAt least 3 families reported with GH deficiency plus agammaglobulinaemia.",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:02:02.387480+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 8013627, 7849697; Phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755, Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:00:42.088019+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRIP1 as ready",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:00:42.065752+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brip1 has been classified as Green List (High Evidence).",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:00:31.637260+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRIP1 were changed from to Fanconi anaemia, complementation group J, MIM# 609054",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-05-01T19:00:03.549608+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRIP1 were set to ",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-05-01T18:59:41.827694+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-05-01T18:59:23.018690+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27107905; Phenotypes: Fanconi anaemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-05-01T18:57:55.174164+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRAF as ready",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2022-05-01T18:57:55.150513+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: braf has been classified as Green List (High Evidence).",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2022-05-01T18:57:46.828486+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRAF were changed from to Noonan syndrome 7, MIM# 613706; Cardiofaciocutaneous syndrome, MIM# 115150",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2022-05-01T18:57:27.092475+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRAF were set to ",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2022-05-01T18:57:04.369051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: BRAF was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2022-05-01T18:56:46.009657+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2022-05-01T18:56:25.693126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19206169, 18042262; Phenotypes: Noonan syndrome 7, MIM# 613706, Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2022-05-01T18:20:05.856098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BPGM as ready",
"entity_name": "BPGM",
"entity_type": "gene"
},
{
"created": "2022-05-01T18:20:05.843099+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bpgm has been classified as Amber List (Moderate Evidence).",
"entity_name": "BPGM",
"entity_type": "gene"
},
{
"created": "2022-05-01T18:08:18.332628+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BPGM were changed from to Erythrocytosis, familial, 8, MIM# 222800",
"entity_name": "BPGM",
"entity_type": "gene"
},
{
"created": "2022-05-01T18:07:55.418677+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BPGM were set to ",
"entity_name": "BPGM",
"entity_type": "gene"
},
{
"created": "2022-05-01T18:07:30.349762+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BPGM was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "BPGM",
"entity_type": "gene"
},
{
"created": "2022-05-01T18:06:28.016472+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BPGM as Amber List (moderate evidence)",
"entity_name": "BPGM",
"entity_type": "gene"
}
]
}