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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1891",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1889",
"results": [
{
"created": "2020-03-31T16:34:17.495361+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:30:12.531090+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH7 as ready",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:30:12.517829+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh7 has been classified as Red List (Low Evidence).",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:30:08.926263+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH7 were changed from to Laing distal myopathy 160500; Myopathy, myosin storage, autosomal dominant 608358; Myopathy, myosin storage, autosomal recessive 255160; Scapuloperoneal syndrome, myopathic type 181430",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:29:24.794687+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYH7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:28:21.418065+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYH7 were set to ",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:27:16.806052+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYH7 as Red List (low evidence)",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:27:16.797118+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh7 has been classified as Red List (Low Evidence).",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:26:38.247872+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYH7: Rating: RED; Mode of pathogenicity: None; Publications: 27519903; Phenotypes: Laing distal myopathy, MIM# 160500; Mode of inheritance: None",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-03-31T14:59:13.648143+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLG3 as ready",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2020-03-31T14:59:13.634999+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlg3 has been classified as Green List (High Evidence).",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2020-03-31T14:59:06.701405+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLG3 were changed from to Mental retardation, X-linked 90, MIM#300850",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2020-03-31T14:58:40.624375+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLG3 were set to ",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2020-03-31T14:58:10.018151+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DLG3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2020-03-31T14:57:35.639243+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DLG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777483, 24721225; Phenotypes: Mental retardation, X-linked 90, MIM#300850; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2020-03-31T14:56:21.986063+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLG3 as ready",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2020-03-31T14:56:21.968721+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlg3 has been classified as Green List (High Evidence).",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2020-03-31T14:56:14.418592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLG3 were changed from to Mental retardation, X-linked 90, MIM#300850",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2020-03-31T14:55:53.754595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLG3 were set to ",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2020-03-31T14:55:36.327227+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DLG3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2020-03-31T12:35:39.094859+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.18",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: CALR3: Rating: RED; Mode of pathogenicity: Other; Publications: 29988065; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CALR3",
"entity_type": "gene"
},
{
"created": "2020-03-31T12:24:04.156660+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBN2 as ready",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T12:24:04.143259+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn2 has been classified as Red List (Low Evidence).",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T12:01:25.594415+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBN2 were changed from to Contractural arachnodactyly, congenital 121050; Macular degeneration, early-onset 616118",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T12:01:03.287023+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:59:54.665961+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBN2 as Red List (low evidence)",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:59:54.657140+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn2 has been classified as Red List (Low Evidence).",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:59:26.836322+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Contractural arachnodactyly, congenital 121050, Macular degeneration, early-onset 616118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:51:52.833230+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBN2 as ready",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:51:52.819924+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn2 has been classified as Green List (High Evidence).",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:51:50.155958+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBN2 were changed from to Contractural arachnodactyly, congenital, MIM# 121050",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:51:25.163642+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:50:57.370688+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Contractural arachnodactyly, congenital, MIM# 121050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:50:22.941072+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBN2 as ready",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:50:22.927853+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn2 has been classified as Green List (High Evidence).",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:50:11.925926+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBN2 were changed from to Contractural arachnodactyly, congenital, MIM# 121050",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:49:48.446593+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:49:18.014917+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FBN2: Changed phenotypes: Contractural arachnodactyly, congenital, MIM# 121050",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:48:52.629116+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Macular degeneration, early-onset, MIM# 616118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:47:44.319745+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBN2 as ready",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:47:44.315572+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: The gene-disease association with Contractual arachnodactyly is extremely well established. The gene-disease association with macular degeneration much less so. There are ~4 families reported in the literature, and some discussion about whether the contribution of rare FBN2 variants in this context are under a 'monogenic' or 'polygenic' model.",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:47:44.285868+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn2 has been classified as Green List (High Evidence).",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:46:01.747365+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBN2 were set to 19473076; 11068201",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:43:20.316429+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBN2 were changed from to Contractural arachnodactyly, congenital 121050; Macular degeneration, early-onset 616118",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:43:04.441242+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBN2 were set to ",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T11:42:49.323035+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-31T07:51:47.994037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1846",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: BTBD7: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "BTBD7",
"entity_type": "gene"
},
{
"created": "2020-03-30T20:28:58.788780+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIFM1 as ready",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-03-30T20:28:58.780400+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aifm1 has been classified as Green List (High Evidence).",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-03-30T20:28:53.185877+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AIFM1 were set to ",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-03-30T20:28:39.618905+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 3856385, 22019070, 26173962, 25583628; Phenotypes: Combined oxidative phosphorylation deficiency 6, Cowchock syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-03-30T20:21:57.511233+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGXT as ready",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2020-03-30T20:21:57.497389+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agxt has been classified as Green List (High Evidence).",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2020-03-30T20:21:49.418188+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGXT as Green List (high evidence)",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2020-03-30T20:21:49.404456+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agxt has been classified as Green List (High Evidence).",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2020-03-30T20:21:39.896627+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGXT was added\ngene: AGXT was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, MIM#259900\nReview for gene: AGXT was set to GREEN\nAdded comment: Multi-system oxalate deposition including leading to neuropathy. \nSources: NHS GMS",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:44:24.155397+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGTPBP1 as ready",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:44:24.146748+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agtpbp1 has been classified as Green List (High Evidence).",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:44:13.798120+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGTPBP1 as Green List (high evidence)",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:44:13.785009+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agtpbp1 has been classified as Green List (High Evidence).",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:43:54.884952+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGTPBP1 was added\ngene: AGTPBP1 was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGTPBP1 were set to 30420557\nPhenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276\nReview for gene: AGTPBP1 was set to GREEN\nAdded comment: Thirteen individuals with bi-allelic variants in this gene, complex neurological phenotype of dev delay/ID, cerebellar atrophy and neuropathy, severe progressive course in six. \nSources: NHS GMS",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:38:25.212535+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGTPBP1 as ready",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:38:25.199213+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agtpbp1 has been classified as Green List (High Evidence).",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:37:31.297023+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGTPBP1 as Green List (high evidence)",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:37:31.288491+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agtpbp1 has been classified as Green List (High Evidence).",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:36:58.249050+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGTPBP1 was added\ngene: AGTPBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: NHS GMS\nMode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGTPBP1 were set to 30420557\nPhenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276\nReview for gene: AGTPBP1 was set to GREEN\nAdded comment: Thirteen individuals reported, clinical presentation was with developmental delay, though six went on to have a progressive neurological course. Other features include cerebellar atrophy and neuropathy. \nSources: NHS GMS",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:34:40.486516+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGTPBP1 as ready",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:34:40.473249+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agtpbp1 has been classified as Green List (High Evidence).",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:34:15.389156+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGTPBP1 as Green List (high evidence)",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:34:15.380200+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agtpbp1 has been classified as Green List (High Evidence).",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:33:39.979589+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGTPBP1 was added\ngene: AGTPBP1 was added to Regression. Sources: NHS GMS\nMode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGTPBP1 were set to 30420557\nPhenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276\nReview for gene: AGTPBP1 was set to GREEN\nAdded comment: Thirteen individuals with bi-allelic variants in this gene, six of those had a progressive course. \nSources: NHS GMS",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:30:10.032804+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGTPBP1 as ready",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:30:10.019097+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agtpbp1 has been classified as Green List (High Evidence).",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:30:04.904782+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGTPBP1 as Green List (high evidence)",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:30:04.895931+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agtpbp1 has been classified as Green List (High Evidence).",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T18:29:55.634654+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGTPBP1 was added\ngene: AGTPBP1 was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGTPBP1 were set to 30420557\nPhenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276\nReview for gene: AGTPBP1 was set to GREEN\nAdded comment: Thirteen individuals with bi-allelic variants in this gene, neuropathy is a major feature. \nSources: NHS GMS",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T17:37:54.353376+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AAAS as ready",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-03-30T17:37:54.344222+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aaas has been classified as Green List (High Evidence).",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-03-30T17:37:51.830304+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AAAS were changed from HMSN; Glucocorticoid deficiency with achalasia to HMSN; Glucocorticoid deficiency with achalasia; Achalasia-addisonianism-alacrimia syndrome, MIM# 231550",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-03-30T17:37:29.990017+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM# 231550; Mode of inheritance: None",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-03-30T17:17:55.866260+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADGRG6: Rating: RED; Mode of pathogenicity: None; Publications: 30549416, 26004201; Phenotypes: Lethal congenital contracture syndrome 9, OMIM #616503; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2020-03-30T17:15:47.856753+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADGRG6 were set to 30549416",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2020-03-30T17:15:28.559914+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADGRG6 as Green List (high evidence)",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2020-03-30T17:15:28.546671+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrg6 has been classified as Green List (High Evidence).",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2020-03-30T17:15:07.017718+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADGRG6: Added comment: Three families reported originally with severe prenatal-onset arthrogryposis (PMID: 26004201), one family with more complex neurological phenotype (PMID:30549416).; Changed rating: GREEN; Changed publications: 30549416, 26004201; Changed phenotypes: Lethal congenital contracture syndrome 9, OMIM #616503; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2020-03-30T17:12:18.877774+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADGRG6 as ready",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2020-03-30T17:12:18.873909+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Gene previously known as GPR126.",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2020-03-30T17:12:18.853328+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrg6 has been classified as Green List (High Evidence).",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2020-03-30T17:11:34.512782+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADGRG6 as Green List (high evidence)",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2020-03-30T17:11:34.504930+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrg6 has been classified as Green List (High Evidence).",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2020-03-30T17:10:45.503590+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADGRG6 were set to 30549416; 26004201",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2020-03-30T17:09:11.042555+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADGRG6 were set to 30549416",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2020-03-30T17:08:27.353231+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADGRG6 as Green List (high evidence)",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2020-03-30T17:08:27.339748+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrg6 has been classified as Green List (High Evidence).",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2020-03-30T11:14:59.492898+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1842",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: NOS1AP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2020-03-30T09:38:44.809293+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1842",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ARID2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:30838730; Phenotypes: Coffin-Siris syndrome 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "ARID2",
"entity_type": "gene"
},
{
"created": "2020-03-30T09:36:20.978194+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1842",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25512093, 28196890; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 20, Mental retardation, autosomal dominant 13, Spinal muscular atrophy, lower extremity-predominant 1; Mode of inheritance: None",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2020-03-30T09:21:26.991803+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1842",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: PQBP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:31840929, 14634649, 20410308; Phenotypes: Renpenning syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2020-03-30T08:28:48.738474+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1842",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CHD3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:30397230; Phenotypes: Snijders Blok-Campeau syndrome (618205); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2020-03-30T07:46:22.894868+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.22",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25589632, 28045975; Phenotypes: Cardiomyopathy, dilated, 1G, 604145, Cardiomyopathy, familial hypertrophic, 9, 613765, Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807, (LGMDR10), Myopathy, myofibrillar, 9, with early respiratory failure, 603689, Salih myopathy, 611705, Tibial muscular dystrophy, tardive, 600334; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TTN",
"entity_type": "gene"
}
]
}