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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=840",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=838",
"results": [
{
"created": "2022-05-15T16:30:01.638767+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtap has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTAP",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:29:29.718384+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 22464254; Phenotypes: Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MIM# 112250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTAP",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:29:23.460881+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTAP were changed from to Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MIM# 112250",
"entity_name": "MTAP",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:29:04.871366+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTAP were set to ",
"entity_name": "MTAP",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:28:46.860029+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTAP",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:28:26.065240+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTAP as Amber List (moderate evidence)",
"entity_name": "MTAP",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:28:26.049355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtap has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTAP",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:28:02.245703+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 22464254; Phenotypes: Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MIM# 112250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTAP",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:23:15.894459+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTFMT as ready",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:23:15.878199+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtfmt has been classified as Green List (High Evidence).",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:23:10.609591+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTFMT were changed from to Combined oxidative phosphorylation deficiency 15, MIM# 614947; Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:22:28.131055+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTFMT were set to ",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:21:57.307106+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTFMT was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:21:38.821628+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTFMT as ready",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:21:38.794693+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtfmt has been classified as Green List (High Evidence).",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:21:29.828168+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTFMT were changed from to Combined oxidative phosphorylation deficiency 15, MIM# 614947; Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:21:23.792147+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTFMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:20:39.108410+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907147, 23499752, 24461907, 22499348; Phenotypes: Combined oxidative phosphorylation deficiency 15, MIM# 614947, Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:20:37.055330+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTFMT were set to ",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:20:02.403061+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTFMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:19:34.519008+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907147, 23499752, 24461907, 22499348; Phenotypes: Combined oxidative phosphorylation deficiency 15, MIM# 614947, Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:16:55.354041+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTHFD1 as ready",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:16:55.341419+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mthfd1 has been classified as Green List (High Evidence).",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:16:41.840464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTHFD1 were set to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:16:25.382586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTHFD1 were changed from to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:16:10.320319+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTHFD1 were set to ",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:15:44.598840+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTHFD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:14:42.654944+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTHFR as ready",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:14:42.644908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mthfr has been classified as Green List (High Evidence).",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:14:33.722988+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTHFR were changed from to Homocystinuria due to MTHFR deficiency MIM#236250; Disorders of folate metabolism and transport",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:12:37.319816+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTHFR were set to ",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2022-05-15T16:12:16.859222+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTHFR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:34:12.250306+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTM1 as ready",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:34:12.230792+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtm1 has been classified as Green List (High Evidence).",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:34:03.085859+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTM1 were changed from to Myopathy, centronuclear, X-linked, MIM# 310400",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:33:41.901712+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTM1 were set to ",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:33:21.039423+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:33:01.743116+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10790201; Phenotypes: Myopathy, centronuclear, X-linked, MIM# 310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:31:16.722607+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTO1 as ready",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:31:16.711899+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mto1 has been classified as Green List (High Evidence).",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:31:10.967207+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTO1 were changed from to Combined oxidative phosphorylation deficiency 10, OMIM #614702",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:30:26.428166+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTOR as ready",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:30:26.417424+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtor has been classified as Green List (High Evidence).",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:30:21.877163+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTOR were changed from to Smith-Kingsmore syndrome, MIM# 616638; Focal cortical dysplasia, type II, somatic, MIM# 607341; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:29:47.029791+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTOR were set to ",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:29:43.604530+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTO1 were set to ",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:29:04.630804+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:28:21.900666+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26061759, 29331171, 23929671; Phenotypes: Combined oxidative phosphorylation deficiency 10, OMIM #614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:28:16.502403+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: MTOR was changed from to Other",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:27:24.732359+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTO1 as ready",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:27:24.720945+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mto1 has been classified as Green List (High Evidence).",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:27:16.439000+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTO1 were changed from to Combined oxidative phosphorylation deficiency 10, OMIM #614702",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:26:56.117812+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTO1 were set to ",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:26:36.526272+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:26:18.211585+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26061759, 29331171, 23929671; Phenotypes: Combined oxidative phosphorylation deficiency 10, OMIM #614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:24:57.483364+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:24:22.863153+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28892148, 25878179, 26018084; Phenotypes: Smith-Kingsmore syndrome, MIM# 616638, Focal cortical dysplasia, type II, somatic, MIM# 607341, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:24:07.282124+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: MTOR was changed from to Other",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:23:00.672912+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTOR as ready",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:23:00.660338+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtor has been classified as Green List (High Evidence).",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:22:51.659660+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTOR were changed from to Smith-Kingsmore syndrome, MIM# 616638; Focal cortical dysplasia, type II, somatic, MIM# 607341; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:22:31.148299+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTOR were set to ",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:22:06.725047+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:21:44.279606+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28892148, 25878179, 26018084; Phenotypes: Smith-Kingsmore syndrome, MIM# 616638, Focal cortical dysplasia, type II, somatic, MIM# 607341, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:06:54.888236+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TXNDC15 were changed from Meckel Gruber syndrome, MONDO:0018921 to Meckel syndrome 14, MIM# 619879",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:06:40.859530+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TXNDC15: Changed phenotypes: Meckel syndrome 14, MIM# 619879",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:06:25.162742+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber syndrome to Meckel syndrome 14, MIM# 619879",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:05:51.848702+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TXNDC15: Changed phenotypes: Meckel syndrome 14, MIM# 619879",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:05:24.723767+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber syndrome to Meckel syndrome 14, MIM# 619879",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:05:02.704232+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TXNDC15: Changed phenotypes: Meckel syndrome 14, MIM# 619879",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:04:41.741800+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber syndrome to Meckel syndrome 14, MIM# 619879",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2022-05-15T11:03:26.687806+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TXNDC15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 14, MIM# 619879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2022-05-15T10:56:31.822808+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber syndrome to Meckel syndrome 14, MIM# 619879",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2022-05-15T10:55:57.263684+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TXNDC15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 14, MIM# 619879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2022-05-15T09:31:12.086287+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14291",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DNASE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Systemic lupus erythematosus, susceptibility to} - MIM#152700; Mode of inheritance: None",
"entity_name": "DNASE1",
"entity_type": "gene"
},
{
"created": "2022-05-15T09:28:58.312672+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14291",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22563501, 23211418, 26528954; Phenotypes: Parkinson disease 19a, juvenile-onset - MIM#615528, Parkinson disease 19b, early-onset - MIM#615528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAJC6",
"entity_type": "gene"
},
{
"created": "2022-05-15T09:26:38.546955+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14291",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22978711, 21820099, 22235333, 31919451, 26659577; Phenotypes: Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant - MIM#162350, ceroid lipofuscinosis, neuronal, 4 (Kufs type) - MONDO:0008083; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2022-05-15T09:23:35.543654+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14291",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: Well-established association with monogenic diabetes with growth restriction, hypothyroidism, neuropathy, sensorineural hearing loss and cerebellar ataxia also reported affected individuals (PMID 33486469 Lytrvi et al 2021 report 2 additional families and summarise the phenotypic features of 4 previously reported families).; to: Well-established association with monogenic diabetes. Growth restriction, hypothyroidism, neuropathy, sensorineural hearing loss and cerebellar ataxia also reported in affected individuals (PMID 33486469 Lytrvi et al 2021 report 2 additional families and summarise the phenotypic features of 4 previously reported families).",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2022-05-15T09:23:05.887023+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14291",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33486469, 34630333, 34654017, 32738013; Phenotypes: ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus - MIM#616192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2022-05-14T22:34:34.648519+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14291",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: None; Publications: 29700810, 28062395, 27346687; Phenotypes: Bone marrow failure syndrome 3 - MIM#617052; Mode of inheritance: None",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2022-05-14T22:33:20.508445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14291",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DNASE1L3: Rating: ; Mode of pathogenicity: None; Publications: 30008451, 22019780, 27821515; Phenotypes: Systemic lupus erythematosus 16 - MIM#614420; Mode of inheritance: None",
"entity_name": "DNASE1L3",
"entity_type": "gene"
},
{
"created": "2022-05-14T22:30:27.732325+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14291",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR), Optic atrophy 5 - MIM#610708 (AD); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2022-05-14T22:26:14.478095+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14291",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DPY19L2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 9 - MIM#613958; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPY19L2",
"entity_type": "gene"
},
{
"created": "2022-05-14T22:24:19.889701+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14291",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DRAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25983245, 29555955, 31394102; Phenotypes: Cone-rod dystrophy 21 - MIM#616502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DRAM2",
"entity_type": "gene"
},
{
"created": "2022-05-14T22:21:26.262951+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.475",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DRD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DRD2",
"entity_type": "gene"
},
{
"created": "2022-05-14T22:20:54.891487+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14291",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DRD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DRD2",
"entity_type": "gene"
},
{
"created": "2022-05-14T22:18:06.408996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14291",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DRD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Essential tremor, hereditary, 1} - MIM#190300, {Schizophrenia, susceptibility to} - MIM#181500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DRD3",
"entity_type": "gene"
},
{
"created": "2022-05-14T22:11:24.414406+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14291",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DSCAM",
"entity_type": "gene"
},
{
"created": "2022-05-14T22:11:07.483979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14291",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "edited their review of gene: DSCAM: Added comment: No OMIM gene disease association. Variants predominantly identified from large cohort studies with limited phenotypic information. Associations with ID, ASD, Hirschsprung disease reported. One homozygous splice site variant reported with no parental phenotypes provided.\r\n\r\nPMID 34253863 Lim et al 2021 - 12 yo proband with severe autism spectrum disorder diagnosed age 3, de novo heterozygous c.2051 del p.(L684X) variant identified (absent from gnomAD). Skin fibroblast human iPSC cells generated from proband and healthy controls. Forebrain-like induced neuronal cells showed reduced mRNA expression for NMDA-R subunits.\r\n\r\nPMID 28600779 Monies et al 2017 - Homozygous splice site variant identified in proband from consanguineous Saudi family. Proband had growth restriction, microcephaly, developmental delay. Parental phenotype not provided.\r\n\r\nPMID 30095639 and PMID 23671607 - report association between DSCAM polymorphisms and Hirschsprung disease in Chinese and European populations. \r\n\r\nPMID 27824329 Wang et al 2016 - 2 denovo mutations in mixed ID/ASD cohort of 1,045; including comparison of previously published cases 6 LOF out of 4,998 cases.\r\n\r\nPMID 28191889 2 denovo LOF in 13,407 mixed ID/ASD cases plus 4 previosly published cases our ot 6158; conclude denovo LOF enriched in cases vs controls\r\n\r\nPMID 21904980; mouse model – het LOF mice show hydrocephalus, decreased motor function and impaired motor learning ability, \r\n\r\nEvidence for missense lacking currently; Changed publications: 34253863, 32807774, 28600779, 21904980, 28191889, 27824329, 30095639, 23671607",
"entity_name": "DSCAM",
"entity_type": "gene"
},
{
"created": "2022-05-14T22:09:42.144142+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14291",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DSCAM: Rating: AMBER; Mode of pathogenicity: None; Publications: 34253863, 32807774, 28600779; Phenotypes: Autism, ID; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DSCAM",
"entity_type": "gene"
},
{
"created": "2022-05-14T18:07:48.539317+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTTP as ready",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2022-05-14T18:07:48.518484+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mttp has been classified as Green List (High Evidence).",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2022-05-14T18:07:39.487948+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTTP were changed from to Abetalipoproteinaemia, MIM# 200100",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2022-05-14T18:07:19.324312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTTP were set to ",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2022-05-14T18:06:56.905346+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTTP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2022-05-14T18:06:36.682611+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17275380, 34078172, 34052173, 33258201; Phenotypes: Abetalipoproteinaemia, MIM# 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2022-05-14T18:03:45.199437+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MUT as ready",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2022-05-14T18:03:45.185398+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14288",
"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": "2022-05-14T18:03:31.373196+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MUT were changed from to Methylmalonic aciduria, mut(0) type, MIM# 251000",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2022-05-14T17:58:55.783065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MUT were set to ",
"entity_name": "MUT",
"entity_type": "gene"
}
]
}