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{
"count": 214296,
"next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?format=api&page=1776",
"previous": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?format=api&page=1774",
"results": [
{
"created": "2018-11-19T11:04:26.570197Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: AUH was added\ngene: AUH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AUH were set to 20855850; 15033206; 12434311; 10070612; 6181239\nPhenotypes for gene: AUH were set to 3-METHYLGLUTACONIC ACIDURIA TYPE 1 250950",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:26.464990Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE 301040 for gene: ATRX\nPublications for gene ATRX were changed from 6682021; 6711605; 16222662; 10632111; 9043863; 10751095 to 12116232; 10995512; 8644709; 15565397; 9598720; 9244431; 7697714",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:26.395539Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ATRX was added\ngene: ATRX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ATRX were set to 6682021; 6711605; 16222662; 10632111; 9043863; 10751095\nPhenotypes for gene: ATRX were set to MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 309580",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:26.329040Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ATR was added\ngene: ATR was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATR were set to SECKEL SYNDROME TYPE 1 210600",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:26.264855Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ATP8B1 was added\ngene: ATP8B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP8B1 were set to 5762004; 11093741; 15317749; 9500542\nPhenotypes for gene: ATP8B1 were set to ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS 211600",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:26.202807Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ATP8A2 was added\ngene: ATP8A2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP8A2 were set to 22892528\nPhenotypes for gene: ATP8A2 were set to CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 615268\nMode of pathogenicity for gene: ATP8A2 was set to Other - please provide details in the comments",
"entity_name": "ATP8A2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:26.115371Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes MENKES DISEASE 309400 for gene: ATP7A\nPublications for gene ATP7A were changed from 20170900; 19153371 to 7842019; 19194885; 12221109; 14635105; 10739752; 9894833; 8812725; 15372525",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:26.012891Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 300489 for gene: ATP7A\nPublications for gene ATP7A were changed from 17108763; 8149649; 11431706; 10739752; 9246006 to 20170900; 19153371",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:25.947341Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ATP7A was added\ngene: ATP7A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ATP7A were set to 17108763; 8149649; 11431706; 10739752; 9246006\nPhenotypes for gene: ATP7A were set to OCCIPITAL HORN SYNDROME 304150",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:25.881423Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ATP6V1B2 was added\ngene: ATP6V1B2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ATP6V1B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ATP6V1B2 were set to 25915598\nPhenotypes for gene: ATP6V1B2 were set to ZIMMERMANN-LABAND SYNDROME\nMode of pathogenicity for gene: ATP6V1B2 was set to Other - please provide details in the comments",
"entity_name": "ATP6V1B2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:25.818194Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ATP6V1B1 was added\ngene: ATP6V1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP6V1B1 were set to 12566520; 18798332; 9916796\nPhenotypes for gene: ATP6V1B1 were set to DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:25.752820Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ATP6AP2 was added\ngene: ATP6AP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ATP6AP2 were set to MENTAL RETARDATION X-LINKED WITH EPILEPSY 300423\nMode of pathogenicity for gene: ATP6AP2 was set to Other - please provide details in the comments",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:25.616553Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes ALTERNATING HEMIPLEGIA OF CHILDHOOD 104290 for gene: ATP1A3\nPublications for gene ATP1A3 were changed from to 22842232",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:25.536770Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ATP1A3 was added\ngene: ATP1A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ATP1A3 were set to RAPID-ONSET DYSTONIA-PARKINSONISM 128235\nMode of pathogenicity for gene: ATP1A3 was set to Other - please provide details in the comments",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:25.444323Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ATP13A2 was added\ngene: ATP13A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP13A2 were set to PARKINSON DISEASE 9 606693",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:25.380519Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ATOH7 was added\ngene: ATOH7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: ATOH7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATOH7 were set to RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC 221900\nMode of pathogenicity for gene: ATOH7 was set to Other - please provide details in the comments",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:25.312463Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ATM was added\ngene: ATM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATM were set to 9443866; 11826028; 8968760; 9450874; 9600235; 8755918; 22345219; 7792600; 9887333; 8808599; 9781027; 2491181; 11889466; 9521587\nPhenotypes for gene: ATM were set to ATAXIA-TELANGIECTASIA 208900",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:25.249420Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ATIC was added\ngene: ATIC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATIC were set to 15114530\nPhenotypes for gene: ATIC were set to AICA-RIBOSURIA 608688",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:25.152401Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy for gene: ATAD3A",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:25.090228Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ATAD3A was added\ngene: ATAD3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ATAD3A were set to 27640307\nPhenotypes for gene: ATAD3A were set to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:25.021559Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ASXL3 was added\ngene: ASXL3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ASXL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ASXL3 were set to 23383720\nPhenotypes for gene: ASXL3 were set to BAINBRIDGE-ROPERS SYNDROME 615485",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:24.958001Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ASXL2 was added\ngene: ASXL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ASXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ASXL2 were set to 28061364\nPhenotypes for gene: ASXL2 were set to Developmental delay, macrocephaly, and dysmorphic features",
"entity_name": "ASXL2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:24.887591Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ASXL1 was added\ngene: ASXL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ASXL1 were set to 21706002; 22419483\nPhenotypes for gene: ASXL1 were set to BOHRING-OPITZ SYNDROME 605039",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:24.821661Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ASS1 was added\ngene: ASS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASS1 were set to CITRULLINEMIA TYPE I 615700",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:24.751692Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ASPM was added\ngene: ASPM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASPM were set to 12355089\nPhenotypes for gene: ASPM were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:24.686119Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ASPH was added\ngene: ASPH was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASPH were set to 24768550\nPhenotypes for gene: ASPH were set to FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:24.619767Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ASPA was added\ngene: ASPA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASPA were set to 8252036; 8023850; 8088831; 7599639; 16437572; 7668285; 10909858; 12638939; 10564886; 8659549\nPhenotypes for gene: ASPA were set to CANAVAN DISEASE 271900",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:24.543978Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ASL was added\ngene: ASL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASL were set to 2263616; 12408190; 12384776\nPhenotypes for gene: ASL were set to ARGININOSUCCINATE LYASE DEFICIENCY 207900",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:24.471512Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ASH1L was added\ngene: ASH1L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ASH1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ASH1L were set to 25961944; 28394464; 29753921; 29276005\nPhenotypes for gene: ASH1L were set to INTELLECTUAL DISABILITY\nMode of pathogenicity for gene: ASH1L was set to Other - please provide details in the comments",
"entity_name": "ASH1L",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:24.395075Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ASCL1 was added\ngene: ASCL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: ASCL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASCL1 were set to 21937992\nPhenotypes for gene: ASCL1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION\nMode of pathogenicity for gene: ASCL1 was set to Other - please provide details in the comments",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:24.335156Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ASCC3 was added\ngene: ASCC3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASCC3 were set to 21937992\nPhenotypes for gene: ASCC3 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION\nMode of pathogenicity for gene: ASCC3 was set to Other - please provide details in the comments",
"entity_name": "ASCC3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:24.271475Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ASCC1 was added\ngene: ASCC1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASCC1 were set to 26924529\nPhenotypes for gene: ASCC1 were set to Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:24.120794Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY 159950 for gene: ASAH1\nPublications for gene ASAH1 were changed from 10610716; 16951918; 11241842; 8955159 to 22703880",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:24.052329Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ASAH1 was added\ngene: ASAH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASAH1 were set to 10610716; 16951918; 11241842; 8955159\nPhenotypes for gene: ASAH1 were set to FARBER LIPOGRANULOMATOSIS 228000",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:23.957275Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes LISSENCEPHALY X-LINKED TYPE 2 300215 for gene: ARX\nPublications for gene ARX were changed from 10353782; 11889467; 19738637; 17668384; 18462864; 19606478; 12177367; 21108397 to 14722918; 11891829; 12379852",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:23.868750Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 308350 for gene: ARX\nPublications for gene ARX were changed from 1605226 to 10353782; 11889467; 19738637; 17668384; 18462864; 19606478; 12177367; 21108397",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:23.775352Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes PARTINGTON SYNDROME 309510 for gene: ARX",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:23.671942Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA 300004 for gene: ARX\nPublications for gene ARX were changed from 21204226; 11971879 to 1605226",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:23.607733Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ARX was added\ngene: ARX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ARX were set to 21204226; 11971879\nPhenotypes for gene: ARX were set to MENTAL RETARDATION X-LINKED ARX-RELATED 300419",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:23.547005Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ARSE was added\ngene: ARSE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ARSE were set to 9409863; 7720070; 12567415\nPhenotypes for gene: ARSE were set to CHONDRODYSPLASIA PUNCTATA 1, X-LINKED 302950",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:23.474772Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ARSB was added\ngene: ARSB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARSB were set to 1718978; 1301949; 17643332; 8723688; 1550123; 8651289\nPhenotypes for gene: ARSB were set to MUCOPOLYSACCHARIDOSIS TYPE 6 253200",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:23.409723Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ARSA was added\ngene: ARSA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARSA were set to 8101083; 7866401; 7909527; 1670590; 1673291; 7906588; 8104633; 11941485; 11456299; 1678251; 12788103; 1676699; 1353340; 11061266; 7902317; 9600244; 8101038; 7858169; 7815433; 1684088; 7981715; 7833949; 2574462\nPhenotypes for gene: ARSA were set to ARYLSULFATASE A DEFICIENCY 250100",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:23.342768Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ARMC9 was added\ngene: ARMC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARMC9 were set to 28625504\nPhenotypes for gene: ARMC9 were set to Joubert syndrome 30",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:23.277148Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ARMC4 was added\ngene: ARMC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARMC4 were set to 23849778\nPhenotypes for gene: ARMC4 were set to CILIARY DYSKINESIA, PRIMARY, 23 615451",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:23.193095Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes RETINITIS PIGMENTOSA TYPE 55 613575 for gene: ARL6\nPublications for gene ARL6 were changed from 20618352; 11381270; 16582908; 18327255; 11567139; 20805367; 21937992; 17160889; 7987310; 16380913; 12837689; 10973238; 16606853; 18203199; 7711739; 8298649; 14520415; 15314642; 15137946; 22353939; 10973251; 9714014; 12118255; 12524598; 20671153; 12567324; 12016587; 16308660 to 19956407",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:23.132777Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ARL6 was added\ngene: ARL6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL6 were set to 20618352; 11381270; 16582908; 18327255; 11567139; 20805367; 21937992; 17160889; 7987310; 16380913; 12837689; 10973238; 16606853; 18203199; 7711739; 8298649; 14520415; 15314642; 15137946; 22353939; 10973251; 9714014; 12118255; 12524598; 20671153; 12567324; 12016587; 16308660\nPhenotypes for gene: ARL6 were set to BARDET-BIEDL SYNDROME TYPE 3 209900",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:23.073728Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ARL14EP was added\ngene: ARL14EP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: ARL14EP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL14EP were set to 21937992\nPhenotypes for gene: ARL14EP were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION\nMode of pathogenicity for gene: ARL14EP was set to Other - please provide details in the comments",
"entity_name": "ARL14EP",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:23.014135Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ARID2 was added\ngene: ARID2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ARID2 were set to 28124119\nPhenotypes for gene: ARID2 were set to ARID2-Coffin-Siris like disorder",
"entity_name": "ARID2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:22.932661Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 614562 for gene: ARID1B\nPublications for gene ARID1B were changed from to 22426309; 22426308; 22405089",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:22.874207Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ARID1B was added\ngene: ARID1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ARID1B were set to COFFIN SIRIS SYNDROME",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:22.816379Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ARID1A was added\ngene: ARID1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ARID1A were set to COFFIN-SIRIS SYNDROME 135900",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:22.757363Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ARHGEF9 was added\ngene: ARHGEF9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ARHGEF9 were set to 21633362\nPhenotypes for gene: ARHGEF9 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 300607",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:22.698146Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ARHGEF6 was added\ngene: ARHGEF6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: ARHGEF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ARHGEF6 were set to MENTAL RETARDATION X-LINKED TYPE 46 300436",
"entity_name": "ARHGEF6",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:22.639547Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ARHGAP31 was added\ngene: ARHGAP31 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ARHGAP31 were set to 16451141; 474617\nPhenotypes for gene: ARHGAP31 were set to ADAMS-OLIVER SYNDROME 1 100300",
"entity_name": "ARHGAP31",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:22.579542Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ARG1 was added\ngene: ARG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARG1 were set to 10502833; 2365823; 1463019; 7649538; 1598908\nPhenotypes for gene: ARG1 were set to ARGININEMIA 207800",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:22.520641Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ARFGEF2 was added\ngene: ARFGEF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARFGEF2 were set to 14647276\nPhenotypes for gene: ARFGEF2 were set to PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY 608097",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:22.461784Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ARCN1 was added\ngene: ARCN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ARCN1 were set to 27476655\nPhenotypes for gene: ARCN1 were set to Microcephalic dwarfism",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:22.380746Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes ANDROGEN INSENSITIVITY SYNDROME 300068 for gene: AR",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:22.319257Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: AR was added\ngene: AR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AR were set to SPINAL AND BULBAR MUSCULAR ATROPHY 313200",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:22.259996Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: APTX was added\ngene: APTX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: APTX were set to 12196655; 11586300; 11586299; 15365154; 15852392\nPhenotypes for gene: APTX were set to ATAXIA WITH OCULOMOTOR APRAXIA 1 208920",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:22.200343Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: APOPT1 was added\ngene: APOPT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APOPT1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:22.141546Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: AP4S1 was added\ngene: AP4S1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4S1 were set to 21620353\nPhenotypes for gene: AP4S1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 614067",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:22.083591Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: AP4M1 was added\ngene: AP4M1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4M1 were set to 19559397\nPhenotypes for gene: AP4M1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 612936",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:22.025828Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: AP4E1 was added\ngene: AP4E1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4E1 were set to 20972249\nPhenotypes for gene: AP4E1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 613744",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:21.968028Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: AP4B1 was added\ngene: AP4B1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4B1 were set to 21620353; 22290197\nPhenotypes for gene: AP4B1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5 614066",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:21.910821Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: AP3B2 was added\ngene: AP3B2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP3B2 were set to 27889060\nPhenotypes for gene: AP3B2 were set to Epileptic Encephalopathy with Optic Atrophy",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:21.852957Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: AP1S2 was added\ngene: AP1S2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: AP1S2 were set to 17617514; 5054319; 10398241; 17186471; 12599187\nPhenotypes for gene: AP1S2 were set to MENTAL RETARDATION X-LINKED TYPE 59 300630",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:21.792683Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ANTXR1 was added\ngene: ANTXR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANTXR1 were set to 23602711\nPhenotypes for gene: ANTXR1 were set to GAPO SYNDROME",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:21.713301Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes GNATHODIAPHYSEAL DYSPLASIA 166260 for gene: ANO5",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:21.632070Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L 611307 for gene: ANO5",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:21.570972Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ANO5 was added\ngene: ANO5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ANO5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ANO5 were set to MIYOSHI MUSCULAR DYSTROPHY TYPE 3 613319",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:21.510696Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ANKRD26 was added\ngene: ANKRD26 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ANKRD26 were set to 21211618; 10521306\nPhenotypes for gene: ANKRD26 were set to THROMBOCYTOPENIA 2 188000\nMode of pathogenicity for gene: ANKRD26 was set to Other - please provide details in the comments",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:21.449047Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ANKRD11 was added\ngene: ANKRD11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ANKRD11 were set to 15523620; 15378538; 21782149\nPhenotypes for gene: ANKRD11 were set to KBG SYNDROME 148050",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:21.368962Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes CHONDROCALCINOSIS 2 118600 for gene: ANKH\nPublications for gene ANKH were changed from 11326272; 14322785; 20358596; 2712793 to 13130483; 8528213; 12297987; 8244341; 12297989; 9915952",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:21.311378Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ANKH was added\ngene: ANKH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ANKH were set to 11326272; 14322785; 20358596; 2712793\nPhenotypes for gene: ANKH were set to CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE 123000",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:21.254303Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: AMT was added\ngene: AMT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMT were set to GLYCINE ENCEPHALOPATHY 605899",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:21.197438Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: AMPD2 was added\ngene: AMPD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMPD2 were set to 23911318\nPhenotypes for gene: AMPD2 were set to PONTOCEREBELLAR HYPOPLASIA",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:21.140505Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: AMER1 was added\ngene: AMER1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: AMER1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: AMER1 were set to OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS 300373",
"entity_name": "AMER1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:21.064171Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes PARIETAL FORAMINA 2 221704 for gene: ALX4",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:21.007561Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ALX4 was added\ngene: ALX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ALX4 were set to FRONTONASAL DYSPLASIA 2 605420",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:20.951215Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ALX3 was added\ngene: ALX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALX3 were set to 19409524\nPhenotypes for gene: ALX3 were set to FRONTONASAL DYSPLASIA TYPE 1 136760",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:20.893872Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ALX1 was added\ngene: ALX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALX1 were set to 20451171; 27324866\nPhenotypes for gene: ALX1 were set to FRONTONASAL DYSPLASIA TYPE 3 136760",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:20.837699Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ALS2 was added\ngene: ALS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALS2 were set to 11586297\nPhenotypes for gene: ALS2 were set to ALS2-RELATED DISORDERS 240656",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:20.781809Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ALPL was added\ngene: ALPL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALPL were set to 3174660\nPhenotypes for gene: ALPL were set to HYPOPHOSPHATASIA 241500\nMode of pathogenicity for gene: ALPL was set to Other - please provide details in the comments",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:20.723286Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ALMS1 was added\ngene: ALMS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALMS1 were set to 11941370; 11941369; 21877133; 9063741; 17594715; 17850632\nPhenotypes for gene: ALMS1 were set to ALSTROM SYNDROME 203800",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:20.665514Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ALG9 was added\ngene: ALG9 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG9 were set to ALG9-CDG 300153",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:20.607828Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ALG8 was added\ngene: ALG8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG8 were set to ALG8-CDG 237145",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:20.550519Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ALG6 was added\ngene: ALG6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG6 were set to ALG6-CDG 237124",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:20.495484Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ALG3 was added\ngene: ALG3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG3 were set to ALG3-CDG 237128",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:20.439918Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ALG2 was added\ngene: ALG2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG2 were set to ALG2-CDG 237149",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:20.364479Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS 300884 for gene: ALG13\nPublications for gene ALG13 were changed from 23934111 to 22492991",
"entity_name": "ALG13",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:20.288834Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: ALG13",
"entity_name": "ALG13",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:20.214733Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes EPILEPTIC ENCEPHALOPATHIES. for gene: ALG13",
"entity_name": "ALG13",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:20.156812Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ALG13 was added\ngene: ALG13 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ALG13 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: ALG13 were set to 23934111\nPhenotypes for gene: ALG13 were set to EPILEPTIC ENCEPHALOPATHIES.\nMode of pathogenicity for gene: ALG13 was set to Other - please provide details in the comments",
"entity_name": "ALG13",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:20.100221Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ALG12 was added\ngene: ALG12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG12 were set to 12217961; 11983712; 12093361\nPhenotypes for gene: ALG12 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G 607143",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:20.040679Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ALG11 was added\ngene: ALG11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG11 were set to ALG11-CDG 319490",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:19.984092Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ALG1 was added\ngene: ALG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG1 were set to ALG1-CDG 300141",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:19.926761Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ALDOB was added\ngene: ALDOB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDOB were set to 3383242\nPhenotypes for gene: ALDOB were set to HEREDITARY FRUCTOSE INTOLERANCE 229600",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:19.867803Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ALDOA was added\ngene: ALDOA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDOA were set to 8598869; 2825199\nPhenotypes for gene: ALDOA were set to GLYCOGEN STORAGE DISEASE XII 611881\nMode of pathogenicity for gene: ALDOA was set to Other - please provide details in the comments",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:04:19.810213Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ALDH7A1 was added\ngene: ALDH7A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH7A1 were set to 16491085; 17721876; 17068770\nPhenotypes for gene: ALDH7A1 were set to PYRIDOXINE-DEPENDENT EPILEPSY 266100",
"entity_name": "ALDH7A1",
"entity_type": "gene"
}
]
}