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{
"count": 220966,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1956",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1954",
"results": [
{
"created": "2020-01-29T12:20:57.082282+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.0",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: NF1 was added\ngene: NF1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NF1 were set to 19845691; 16380919; 12707950\nPhenotypes for gene: NF1 were set to Neurofibromatosis, type 1 162200; Neurofibromatosis-Noonan syndrome 601321",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:20:57.018016+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.0",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: MAP2K2 was added\ngene: MAP2K2 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAP2K2 were set to 21396583; 23379592\nPhenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome 4 615280\nMode of pathogenicity for gene: MAP2K2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:20:56.965713+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.0",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: MAP2K1 was added\ngene: MAP2K1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAP2K1 were set to 21396583; 23321623\nPhenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome 3 615279\nMode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:20:56.902108+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.0",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: LZTR1 was added\ngene: LZTR1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: LZTR1 were set to 25795793; 29469822\nPhenotypes for gene: LZTR1 were set to Schwannomatosis-2, susceptibility to 615670; Noonan syndrome 10 616564",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:20:56.831760+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.0",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: KRAS was added\ngene: KRAS was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KRAS were set to 21396583\nPhenotypes for gene: KRAS were set to Cardiofaciocutaneous syndrome 2 615278; Noonan syndrome 3 609942\nMode of pathogenicity for gene: KRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:20:56.778423+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.0",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: KIF11 was added\ngene: KIF11 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,Expert Review Green\nMode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF11 were set to 22284827\nPhenotypes for gene: KIF11 were set to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MCLMR 152950",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:20:56.719368+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.0",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: IKBKG was added\ngene: IKBKG was added to Lymphoedema_syndromic. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green\nMode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: IKBKG were set to 11242109\nPhenotypes for gene: IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency\t300301",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:20:56.648752+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.0",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: HRAS was added\ngene: HRAS was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HRAS were set to 21396583; 16969868; 16443854; 16170316\nPhenotypes for gene: HRAS were set to Costello syndrome 218040\nMode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:20:56.590216+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.0",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: GJC2 was added\ngene: GJC2 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,Expert Review Green\nMode of inheritance for gene: GJC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GJC2 were set to Lymphedema, hereditary, IC, 613480",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:20:56.526116+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.0",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: GJA1 was added\ngene: GJA1 was added to Lymphoedema_syndromic. Sources: Expert list,London South GLH,Expert Review Green\nMode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GJA1 were set to 23550541\nPhenotypes for gene: GJA1 were set to Oculodentodigital dysplasia 164200",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:20:56.453810+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.0",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: GATA2 was added\ngene: GATA2 was added to Lymphoedema_syndromic. Sources: London South GLH,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert Review Green\nMode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GATA2 were set to 21892158\nPhenotypes for gene: GATA2 were set to {Myelodysplastic syndrome, susceptibility to}\t614286; Emberger Syndrome 614038",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:20:56.386521+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.0",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: FOXC2 was added\ngene: FOXC2 was added to Lymphoedema_syndromic. Sources: Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN,Expert Review Green,London South GLH\nMode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXC2 were set to 11078474\nPhenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome, 153400; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:20:56.312521+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.0",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: FAT4 was added\ngene: FAT4 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,Expert Review Green\nMode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAT4 were set to 24913602\nPhenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, 616006; Van Maldergem syndrome 2, 615546",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:20:56.249521+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.0",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: CHD7 was added\ngene: CHD7 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CHD7 were set to 16155193; 15300250; 16400610\nPhenotypes for gene: CHD7 were set to CHARGE syndrome 214800",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:20:56.179026+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.0",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: CCBE1 was added\ngene: CCBE1 was added to Lymphoedema_syndromic. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert Review Green,London South GLH\nMode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCBE1 were set to Hennekam Lymphangiectasia-Lymphedema Syndrome; Hennekam lymphangiectasia-lymphedema syndrome, 235510",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:20:56.106381+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.0",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: CBL was added\ngene: CBL was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CBL were set to 19571318; 20619386; 20543203\nPhenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563\nMode of pathogenicity for gene: CBL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:20:56.041981+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.0",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: BRAF was added\ngene: BRAF was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BRAF were set to 21396583; 19206169\nPhenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome 115150; Noonan syndrome 7 613706; LEOPARD syndrome 3 613707\nMode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:20:56.010662+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.0",
"user_name": "Sue White",
"item_type": "panel",
"text": "Added panel Lymphoedema_syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-29T12:10:52.884711+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XRCC4 as ready",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:10:52.877518+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xrcc4 has been classified as Green List (High Evidence).",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:10:46.704315+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: XRCC4 as Green List (high evidence)",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:10:46.695432+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xrcc4 has been classified as Green List (High Evidence).",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:09:51.700932+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XRCC4 as ready",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:09:51.693085+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xrcc4 has been classified as Green List (High Evidence).",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:09:43.680381+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC4 were changed from to Short stature, microcephaly, and endocrine dysfunction (MIM#616541)",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:09:25.610754+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XRCC4 were set to ",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2020-01-29T12:09:10.821193+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: XRCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:52:27.338702+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FDXR as ready",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:52:27.330997+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fdxr has been classified as Green List (High Evidence).",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:47:26.841932+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM# 617717",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:42:02.866966+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FDXR were set to ",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:41:17.304498+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:40:34.028976+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28965846; Phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:33:35.987473+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL9A1 as ready",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:33:35.979787+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col9a1 has been classified as Green List (High Evidence).",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:33:11.196281+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL9A1 were changed from to Stickler syndrome, type IV, MIM#614134",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:32:35.402967+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL9A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:31:45.000690+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type IV, MIM#614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:31:08.788594+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL2A1 as ready",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:31:08.780336+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col2a1 has been classified as Green List (High Evidence).",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:30:18.832948+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL2A1 were changed from to Stickler syndrome, type I, MIM108300",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:28:27.981774+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL2A1 were set to ",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:28:03.442366+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D24 as ready",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:28:02.409755+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d24 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:27:06.094815+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:25:40.537796+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27408751; Phenotypes: Stickler syndrome, type I, MIM108300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:21:46.261026+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D24 were changed from to DOORS syndrome, MIM#220500; Deafness, autosomal dominant 65, MIM#616044; Deafness , autosomal recessive 86, MIM#614617",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:02:00.815381+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD151 as Amber List (moderate evidence)",
"entity_name": "CD151",
"entity_type": "gene"
},
{
"created": "2020-01-29T11:02:00.807671+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd151 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD151",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:58:56.686011+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CD151: Added comment: Deafness not reported in the third family, downgrade to Amber.; Changed rating: AMBER",
"entity_name": "CD151",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:50:18.831331+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTBN4 were set to 29861105; 28540413",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:49:59.905205+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTBN4 as ready",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:49:59.896850+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn4 has been classified as Green List (High Evidence).",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:37:00.802957+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTBN4 were set to ",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:36:51.680628+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.265",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29198720; Phenotypes: Leber congenital amaurosis with early-onset deafness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:36:28.587638+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBC1D24 were set to ",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:36:06.159772+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNE4 as ready",
"entity_name": "SYNE4",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:36:05.411464+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syne4 has been classified as Green List (High Evidence).",
"entity_name": "SYNE4",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:35:54.413779+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTBN4 were changed from to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:35:02.526192+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBC1D24 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:34:57.332561+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNAI2 as ready",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:34:57.323901+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snai2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:34:27.479945+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.263",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TRAF7: Rating: RED; Mode of pathogenicity: None; Publications: 29961569; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRAF7",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:34:19.218817+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: None; Publications: 24729539, 24729547, 24387994, 24291220; Phenotypes: DOORS syndrome, MIM#220500, Deafness, autosomal dominant 65, MIM#616044, Deafness , autosomal recessive 86, MIM#614617; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:28:40.829874+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNE4 were changed from to Deafness, autosomal recessive 76, MIM# 615540",
"entity_name": "SYNE4",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:28:07.961323+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYNE4 were set to ",
"entity_name": "SYNE4",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:27:57.655734+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.262",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: SOX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30262714, 16932809, 16145681; Phenotypes: Anopthalmia and sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:27:35.938405+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNAI2 were changed from to Waardenburg syndrome, type 2D, MIM# 608890",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:27:25.452245+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC4A11 as ready",
"entity_name": "SLC4A11",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:27:25.443675+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc4a11 has been classified as Green List (High Evidence).",
"entity_name": "SLC4A11",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:27:02.671794+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYNE4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYNE4",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:26:09.633323+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYNE4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23348741, 28958982; Phenotypes: Deafness, autosomal recessive 76, MIM# 615540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYNE4",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:24:04.676532+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC4A11 were changed from to Corneal endothelial dystrophy and perceptive deafness, MIM# 217400",
"entity_name": "SLC4A11",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:23:32.497729+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNAI2 were set to ",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:22:57.708916+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTBN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:22:16.765104+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPTBN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29861105, 28540413; Phenotypes: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:21:11.244415+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNAI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:20:38.963507+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC4A11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC4A11",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:20:16.617662+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINB6 as ready",
"entity_name": "SERPINB6",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:20:15.874712+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpinb6 has been classified as Green List (High Evidence).",
"entity_name": "SERPINB6",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:20:06.434463+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNAI2 as Amber List (moderate evidence)",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:20:06.427253+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snai2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:19:25.997915+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12444107, 30936914; Phenotypes: Waardenburg syndrome, type 2D, MIM# 608890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:12:45.292587+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC4A11 were set to ",
"entity_name": "SLC4A11",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:12:12.477136+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINB6 were changed from to Deafness, autosomal recessive 91, MIM# 613453",
"entity_name": "SERPINB6",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:12:08.177674+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.256",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: SLITRK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23543054; Phenotypes: deafness and myopia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLITRK6",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:11:31.393178+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC4A11: Rating: GREEN; Mode of pathogenicity: None; Publications: 17220209; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Mode of inheritance: None",
"entity_name": "SLC4A11",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:09:58.011090+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.256",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: SLC17A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674745, 26797701, 28647561; Phenotypes: Non syndrome hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC17A8",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:09:39.530994+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINB6 were set to ",
"entity_name": "SERPINB6",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:09:19.945667+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SALL4 as ready",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:09:19.936093+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sall4 has been classified as Green List (High Evidence).",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:09:02.908202+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINB6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINB6",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:08:08.762437+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SERPINB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20451170, 25719458, 23669344; Phenotypes: Deafness, autosomal recessive 91, MIM# 613453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINB6",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:07:56.242154+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.254",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: SIX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: branchio-oto-renal syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:06:12.669934+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SALL4 were changed from Duane-radial ray syndrome, MIM# 607323 to Duane-radial ray syndrome, MIM# 607323",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:05:39.962058+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SALL4 were changed from Duane-radial ray syndrome, MIM# 607323 to Duane-radial ray syndrome, MIM# 607323",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:05:06.908606+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SALL4 were changed from Duane-radial ray syndrome, MIM# 607323 to Duane-radial ray syndrome, MIM# 607323",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:04:33.075296+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SALL4 were changed from to Duane-radial ray syndrome, MIM# 607323",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:04:11.617798+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.253",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 16971658, 8588587; Phenotypes: Papillorenal syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:03:58.650996+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMP22 were changed from Charcot-Marie-Tooth disease, type 1E 118300 to Charcot-Marie-Tooth disease, type 1E 118300",
"entity_name": "PMP22",
"entity_type": "gene"
}
]
}