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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1697",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1695",
"results": [
{
"created": "2020-07-31T13:50:38.567104+10:00",
"panel_name": "Pancreatitis",
"panel_id": 154,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TRPV6 as ready",
"entity_name": "TRPV6",
"entity_type": "gene"
},
{
"created": "2020-07-31T13:50:38.556993+10:00",
"panel_name": "Pancreatitis",
"panel_id": 154,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: trpv6 has been classified as Green List (High Evidence).",
"entity_name": "TRPV6",
"entity_type": "gene"
},
{
"created": "2020-07-31T13:49:53.323104+10:00",
"panel_name": "Pancreatitis",
"panel_id": 154,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TRPV6 as Green List (high evidence)",
"entity_name": "TRPV6",
"entity_type": "gene"
},
{
"created": "2020-07-31T13:49:53.313582+10:00",
"panel_name": "Pancreatitis",
"panel_id": 154,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: trpv6 has been classified as Green List (High Evidence).",
"entity_name": "TRPV6",
"entity_type": "gene"
},
{
"created": "2020-07-31T13:48:03.503185+10:00",
"panel_name": "Pancreatitis",
"panel_id": 154,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRPV6 was added\ngene: TRPV6 was added to Pancreatitis. Sources: Literature\nMode of inheritance for gene: TRPV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPV6 were set to 32383311; 31930989\nPhenotypes for gene: TRPV6 were set to Early onset chronic pancreatitis susceptibility\nReview for gene: TRPV6 was set to GREEN\nAdded comment: Two studies identified a significant over-representation of loss of function mainly missense variants in chronic pancreatitis cases compared to controls in Japanese, European, and Chinese cohorts. There was also a supporting mouse model. \nSources: Literature",
"entity_name": "TRPV6",
"entity_type": "gene"
},
{
"created": "2020-07-31T11:46:38.833070+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIMS2 were changed from nystagmus; retinal dysfunction; autism; night blindness to nystagmus; retinal dysfunction; autism; night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive\t, MIM#618970",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-07-31T11:45:59.921126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIMS2 were changed from nystagmus; retinal dysfunction; autism; night blindness to nystagmus; retinal dysfunction; autism; night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive\t, MIM#618970",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-07-31T11:45:39.491759+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RIMS2: Changed phenotypes: nystagmus, retinal dysfunction, autism, night blindness, Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-07-31T11:45:07.354247+10:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIMS2 were changed from nystagmus; retinal dysfunction; autism; night blindness to nystagmus; retinal dysfunction; autism; night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive\t, MIM#618970",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-07-31T11:44:49.456617+10:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RIMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-07-31T11:39:26.837399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR1 as ready",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T11:39:26.815255+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr1 has been classified as Green List (High Evidence).",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T11:39:19.587728+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR1 were changed from to Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550; Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T11:39:02.933342+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR1 were set to ",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T11:38:46.004915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T11:38:28.742693+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27994071, 27557945, 29751004; Phenotypes: Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550, Neutropaenia, Poor wound healing, Severe stomatitis, Neutrophil nuclei herniate, Autoinflammatory periodic fever, Thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T11:33:40.439511+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR1 were changed from Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia to Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550; Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T11:33:02.327065+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WDR1: Changed phenotypes: Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T11:32:22.055001+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR1 as ready",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T11:32:22.045726+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr1 has been classified as Green List (High Evidence).",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T11:32:18.491933+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDR1 as Green List (high evidence)",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T11:32:18.481874+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr1 has been classified as Green List (High Evidence).",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T11:31:50.194090+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR1 was added\ngene: WDR1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: WDR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR1 were set to 27557945; 29751004; 27994071\nPhenotypes for gene: WDR1 were set to Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550\nReview for gene: WDR1 was set to GREEN\nAdded comment: At least 7 families reported. \nSources: Expert list",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:39:09.246335+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HOXC13 as ready",
"entity_name": "HOXC13",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:39:09.238154+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hoxc13 has been classified as Green List (High Evidence).",
"entity_name": "HOXC13",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:39:05.288380+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HOXC13 as Green List (high evidence)",
"entity_name": "HOXC13",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:39:05.278719+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hoxc13 has been classified as Green List (High Evidence).",
"entity_name": "HOXC13",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:38:56.922679+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HOXC13 was added\ngene: HOXC13 was added to Hair disorders. Sources: Literature\nMode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HOXC13 were set to 23063621; 23315978; 29278420\nPhenotypes for gene: HOXC13 were set to Ectodermal dysplasia 9, hair/nail type MIM#614931\nReview for gene: HOXC13 was set to GREEN\nAdded comment: 4 unrelated families with 4 different homozygous variants with hair abnormalities as a feature of the disease phenotype. \nSources: Literature",
"entity_name": "HOXC13",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:33:52.346323+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3619",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KREMEN1 as ready",
"entity_name": "KREMEN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:33:52.337830+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3619",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kremen1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KREMEN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:33:44.218168+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3619",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KREMEN1 as Amber List (moderate evidence)",
"entity_name": "KREMEN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:33:44.208066+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3619",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kremen1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KREMEN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:33:22.711633+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3618",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KREMEN1 was added\ngene: KREMEN1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KREMEN1 were set to 27049303; 27550540\nPhenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type MIM#617392\nReview for gene: KREMEN1 was set to AMBER\nAdded comment: 4 consanguineous Palestinian families segregating the same homozygous missense (Phe209Ser) with disease phenotype which includes hair abnormalities. Possible founder variant. There are also animal model functional assays that suggest the gene is involved in hair development. \nSources: Expert list",
"entity_name": "KREMEN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:31:54.000030+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KREMEN1 as ready",
"entity_name": "KREMEN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:31:53.991111+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kremen1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KREMEN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:31:08.506201+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KREMEN1 as Amber List (moderate evidence)",
"entity_name": "KREMEN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:31:08.495669+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kremen1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KREMEN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:31:01.562362+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KREMEN1 was added\ngene: KREMEN1 was added to Hair disorders. Sources: Expert list\nMode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KREMEN1 were set to 27049303; 27550540\nPhenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type MIM#617392\nReview for gene: KREMEN1 was set to AMBER\nAdded comment: 4 consanguineous Palestinian families segregating the same homozygous missense (Phe209Ser) with disease phenotype which includes hair abnormalities. Possible founder variant. There are also animal model functional assays that suggest the gene is involved in hair development. \nSources: Expert list",
"entity_name": "KREMEN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:22:14.293130+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TSPEAR as ready",
"entity_name": "TSPEAR",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:22:14.282025+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tspear has been classified as Green List (High Evidence).",
"entity_name": "TSPEAR",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:22:11.318914+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TSPEAR as Green List (high evidence)",
"entity_name": "TSPEAR",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:22:11.308274+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tspear has been classified as Green List (High Evidence).",
"entity_name": "TSPEAR",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:22:04.616718+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TSPEAR was added\ngene: TSPEAR was added to Hair disorders. Sources: Expert list\nMode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TSPEAR were set to 27736875\nPhenotypes for gene: TSPEAR were set to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis\tMIM#618180\nReview for gene: TSPEAR was set to GREEN\nAdded comment: 2 frameshift and 2 missense variants segregating with disease phenotype, which includes hair abnormalities in 3 families, and supporting functional assays. \nSources: Expert list",
"entity_name": "TSPEAR",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:17:12.559521+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KRT85 as Green List (high evidence)",
"entity_name": "KRT85",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:17:12.550582+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt85 has been classified as Green List (High Evidence).",
"entity_name": "KRT85",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:17:05.876626+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KRT85 was added\ngene: KRT85 was added to Hair disorders. Sources: Expert list\nMode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KRT85 were set to 16525032; 19865094; 31273852\nPhenotypes for gene: KRT85 were set to Ectodermal dysplasia 4, hair/nail type MIM#602032\nReview for gene: KRT85 was set to GREEN\nAdded comment: 4 families reported, 3 homozygous with 2 different variants and 1 compound heterozygous with hair abnormalities as a feature of the condition. \nSources: Expert list",
"entity_name": "KRT85",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:09:40.186254+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CST6 as ready",
"entity_name": "CST6",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:09:40.169025+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cst6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CST6",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:08:45.114580+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CST6 as Amber List (moderate evidence)",
"entity_name": "CST6",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:08:45.094370+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cst6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CST6",
"entity_type": "gene"
},
{
"created": "2020-07-31T10:08:00.894524+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CST6 was added\ngene: CST6 was added to Hair disorders. Sources: Expert list\nMode of inheritance for gene: CST6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CST6 were set to 30425301; 12393798\nPhenotypes for gene: CST6 were set to Ectodermal dysplasia 15, hypohidrotic/hair type MIM#618535\nReview for gene: CST6 was set to AMBER\nAdded comment: A single family reported with hypotrichosis and a supporting null mouse model \nSources: Expert list",
"entity_name": "CST6",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:59:26.835170+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANO1 as ready",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:59:26.824738+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ano1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:59:23.398587+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANO1 as Amber List (moderate evidence)",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:59:23.390582+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ano1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:59:02.007071+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANO1 was added\ngene: ANO1 was added to Congenital Diarrhoea. Sources: Literature\nMode of inheritance for gene: ANO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANO1 were set to 32487539\nPhenotypes for gene: ANO1 were set to Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features\nReview for gene: ANO1 was set to AMBER\nAdded comment: PMID: 32487539 (2020) - Two affected sibs presenting in early infancy with impaired intestinal peristalsis, intestinal pneumatosis and dysmorphic features. Delayed motor and language development was reported in one sibling, however, the other sibling died at 5 months from cardiac arrest and therefore a psychomotor assessment was not performed. Exome sequencing identified a homozygous truncating variant (c.897+3_897+6delAAGT, p.L300Vfs*58) in ANO1 which segregated with disease in the family. Functional data revealed that the variant led to lack of expression of functional TMEM16A in patient cells, which in turn abolished calcium-activated Cl- currents. Also supportive mouse model. \nSources: Literature",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:58:01.193283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANO1 were changed from Impaired intestinal peristalsis; dysmorphic features to Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:57:10.743471+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANO1 as ready",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:57:10.734489+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ano1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:56:53.969649+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANO1 were changed from to Impaired intestinal peristalsis; dysmorphic features",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:56:29.719114+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANO1 as Amber List (moderate evidence)",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:56:29.701818+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ano1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:55:33.996661+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB2A as ready",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:55:33.986160+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb2a has been classified as Green List (High Evidence).",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:55:30.468161+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB2A were changed from to Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:55:07.393084+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB2A were set to ",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:54:42.524037+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:54:13.301240+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32571897; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:53:21.971450+10:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB2A as ready",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:53:21.958003+10:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb2a has been classified as Green List (High Evidence).",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:53:19.603672+10:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB2A were changed from to Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:52:55.425303+10:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB2A were set to ",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:52:35.546812+10:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:52:12.984791+10:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32571897; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:51:35.650034+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TUBB2A: Changed publications: 32571897",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:50:53.778893+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB2A as ready",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:50:53.771027+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb2a has been classified as Green List (High Evidence).",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:50:41.943435+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB2A were changed from to Cortical dysplasia, complex, with other brain malformations 5 MIM#615763",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:50:23.820321+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB2A were set to ",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:49:55.549826+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:49:38.680215+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:48:34.255973+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMP22 as ready",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:48:34.247562+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmp22 has been classified as Green List (High Evidence).",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:48:27.833587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMP22 were changed from to Charcot-Marie-Tooth disease, type 1A, MIM# 118220; Charcot-Marie-Tooth disease, type 1E, MIM# 118300; Dejerine-Sottas disease, MIM# 145900; Neuropathy, recurrent, with pressure palsies 162500; Roussy-Levy syndrome 180800",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:48:15.782046+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PMP22 were set to ",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:47:59.857301+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMP22 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:47:43.404419+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: PMP22.",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:47:32.202054+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Note mechanism is often CNV.",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:47:14.501249+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PMP22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 1A, MIM# 118220, Charcot-Marie-Tooth disease, type 1E, MIM# 118300, Dejerine-Sottas disease, MIM# 145900, Neuropathy, recurrent, with pressure palsies 162500, Roussy-Levy syndrome 180800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:45:24.090010+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTX2 as ready",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:45:24.081022+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otx2 has been classified as Green List (High Evidence).",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:45:19.320065+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTX2 as ready",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:45:19.311615+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otx2 has been classified as Green List (High Evidence).",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:45:17.088791+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTX2 were changed from to Microphthalmia, syndromic 5, MIM# 610125",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:44:53.020160+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTX2 were set to ",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:44:31.046690+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OTX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:44:04.981626+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24859618; Phenotypes: Microphthalmia, syndromic 5, MIM# 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:40:41.414106+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTX2 were changed from to Microphthalmia, syndromic 5, MIM# 610125; Pituitary hormone deficiency, combined, 6, MIM# 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, MIM# 610125",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:39:56.831143+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OTX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:39:40.758586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microphthalmia, syndromic 5, MIM# 610125, Pituitary hormone deficiency, combined, 6, MIM# 613986, Retinal dystrophy, early-onset, with or without pituitary dysfunction, MIM# 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OTX2",
"entity_type": "gene"
}
]
}