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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1168",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1166",
"results": [
{
"created": "2021-10-24T17:57:17.264492+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GM2A was added\ngene: GM2A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GM2A were set to GM2-GANGLIOSIDOSIS TYPE AB",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:16.864783+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLIS2 was added\ngene: GLIS2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GLIS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLIS2 were set to NEPHRONOPHTHISIS 7",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:16.256702+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLI1 was added\ngene: GLI1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GLI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLI1 were set to Polydactyly, preaxial I, OMIM:174400; Polydactyly, postaxial, type A8, MONDO:0029130; Polydactyly, postaxial, type A8, OMIM:618123; Preaxial polydactyly of fingers, MONDO:0017425",
"entity_name": "GLI1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:15.852698+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GFRA1 was added\ngene: GFRA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GFRA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GFRA1 were set to 33020172\nPhenotypes for gene: GFRA1 were set to Renal agenesis",
"entity_name": "GFRA1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:15.368030+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GFPT1 was added\ngene: GFPT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542; Congenital myasthenic syndrome 12, MONDO:0012518",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:14.763262+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA3 was added\ngene: GATA3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255; Hypoparathyroidism-deafness-renal disease syndrome, MONDO:0007797",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:14.364935+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GANAB was added\ngene: GANAB was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GANAB were set to Polycystic kidney disease 3 with or without polycystic liver disease, MONDO:0010916; Polycystic kidney disease 3, OMIM:600666",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:13.756932+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALNT2 was added\ngene: GALNT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALNT2 were set to 27508872; 32293671\nPhenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt OMIM:618885",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:13.355385+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GABRG2 was added\ngene: GABRG2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GABRG2 were set to EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3; GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:12.952308+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GABRB2 was added\ngene: GABRB2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GABRB2 were set to Epilepsy and intellectual disability",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:12.345358+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GABRA1 was added\ngene: GABRA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GABRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GABRA1 were set to JUVENILE MYOCLONIC EPILEPSY; EPILEPTIC ENCEPHALOPATHY",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:11.873498+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FZD5 was added\ngene: FZD5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FZD5 were set to Autosomal Dominant Coloboma",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:11.267109+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FZD2 was added\ngene: FZD2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FZD2 were set to Autosomal dominant omodysplasia, MONDO:0008123; Omodysplasia 2, OMIM:164745",
"entity_name": "FZD2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:10.869918+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FUT8 was added\ngene: FUT8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation 1, OMIM:618005; Congenital disorder of glycosylation with defective fucosylation 1, MONDO:0020775",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:10.473039+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FUCA1 was added\ngene: FUCA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FUCA1 were set to FUCOSIDOSIS",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:09.864631+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRRS1L was added\ngene: FRRS1L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FRRS1L were set to Epileptic encephalopathy with continuous spike-and-wave during sleep",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:09.459477+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRMPD4 was added\ngene: FRMPD4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FRMPD4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FRMPD4 were set to Intellectual Disability",
"entity_name": "FRMPD4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:09.057190+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXP4 was added\ngene: FOXP4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FOXP4 were set to 33110267\nPhenotypes for gene: FOXP4 were set to multiple congenital abnormalities; Neurodevelopmental disorder",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:08.456076+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXP2 was added\ngene: FOXP2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FOXP2 were set to SPEECH-LANGUAGE DISORDER 1",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:08.051899+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXL2 was added\ngene: FOXL2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FOXL2 were set to BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME",
"entity_name": "FOXL2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:07.446087+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FN1 was added\ngene: FN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FN1 were set to Spondylometaphyseal Dysplasia with Corner Fractures",
"entity_name": "FN1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:06.970664+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FMN2 was added\ngene: FMN2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FMN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FMN2 were set to NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY",
"entity_name": "FMN2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:06.572965+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FKBP8 was added\ngene: FKBP8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FKBP8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: FKBP8 were set to 29261186; 32969478\nPhenotypes for gene: FKBP8 were set to Spina bifida, HP:0002414; Vertebral segmentation defects",
"entity_name": "FKBP8",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:05.970955+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FKBP10 was added\ngene: FKBP10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKBP10 were set to Bruck syndrome 1, MONDO:0009806; Osteogenesis imperfecta, type XI, OMIM:610968; Osteogenesis imperfecta type 11, MONDO:0012592; Bruck syndrome 1, OMIM:259450",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:05.570364+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FIG4 was added\ngene: FIG4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J, MONDO:0012640; Yunis-Varon syndrome, OMIM:216340; Yunis-Varon syndrome, MONDO:0008995; ?Polymicrogyria, bilateral temporooccipital, OMIM:612691; Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:04.957333+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGF9 was added\ngene: FGF9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FGF9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FGF9 were set to MULTIPLE SYNOSTOSES SYNDROME TYPE 3",
"entity_name": "FGF9",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:04.558914+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FEZF1 was added\ngene: FEZF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FEZF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FEZF1 were set to HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA",
"entity_name": "FEZF1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:04.156914+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCM was added\ngene: FANCM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCM were set to FANCONI ANEMIA; FANCM-RELATED FANCONI ANEMIA",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:03.549072+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCL was added\ngene: FANCL was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, OMIM:614083; Fanconi anemia complementation group L, MONDO:0013566",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:03.147398+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM46A was added\ngene: FAM46A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type 18, MONDO:0044329; Osteogenesis imperfecta, type XVIII, OMIM:617952",
"entity_name": "FAM46A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:02.747442+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXPH5 was added\ngene: EXPH5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: EXPH5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EXPH5 were set to INHERITED SKIN FRAGILITY",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:02.067365+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXOC3L2 was added\ngene: EXOC3L2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOC3L2 were set to 28749478; 27894351; 30327448\nPhenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation; Meckel-Gruber-like syndrome",
"entity_name": "EXOC3L2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:01.665741+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EMX2 was added\ngene: EMX2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: EMX2 were set to Schizencephaly, 269160",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:00.960721+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EML1 was added\ngene: EML1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: EML1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EML1 were set to Band heterotopia, OMIM:600348",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:00.560015+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EMG1 was added\ngene: EMG1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EMG1 were set to 19463982\nPhenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, 211180; Bowen-Conradi syndrome\nMode of pathogenicity for gene: EMG1 was set to Other",
"entity_name": "EMG1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:00.148586+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EMC1 was added\ngene: EMC1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: EMC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: EMC1 were set to Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:59.458716+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELMO2 was added\ngene: ELMO2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ELMO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ELMO2 were set to Intraosseous Vascular Malformation",
"entity_name": "ELMO2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:59.051929+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2S3 was added\ngene: EIF2S3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: EIF2S3 were set to MEHMO syndrome, OMIM:300148; MEHMO syndrome, MONDO:0010258",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:58.652657+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EHBP1L1 was added\ngene: EHBP1L1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EHBP1L1 were set to 26833786; https://dmdd.org.uk/mutants/Ehbp1l1; 34645488\nPhenotypes for gene: EHBP1L1 were set to non-immune hydrops fetalis MONDO:0009369",
"entity_name": "EHBP1L1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:58.049926+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EEF1A2 was added\ngene: EEF1A2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: EEF1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: EEF1A2 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:57.649253+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EED was added\ngene: EED was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: EED were set to Cohen-Gibson syndrome, MONDO:0060510; Cohen-Gibson syndrome, OMIM:617561",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:57.005111+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EDN1 was added\ngene: EDN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: EDN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: EDN1 were set to AURICULOCONDYLAR SYNDROME",
"entity_name": "EDN1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:56.567595+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DZIP1L was added\ngene: DZIP1L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DZIP1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DZIP1L were set to Polycystic kidney disease 5, 617610",
"entity_name": "DZIP1L",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:56.169291+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DYNC2LI1 was added\ngene: DYNC2LI1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYNC2LI1 were set to Short-rib thoracic dysplasia 15 with polydactyly, 617088",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:55.572603+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DSG1 was added\ngene: DSG1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DSG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DSG1 were set to SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:55.162471+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DRC1 was added\ngene: DRC1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DRC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DRC1 were set to PRIMARY CILARY DYSKINEASIA",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:54.763641+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPM3 was added\ngene: DPM3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DPM3 were set to ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937",
"entity_name": "DPM3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:54.162924+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPM2 was added\ngene: DPM2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu, 615042",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:53.779975+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPH1 was added\ngene: DPH1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPH1 were set to 25558065; 32732226; 30877278; 29362492\nPhenotypes for gene: DPH1 were set to Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:53.158233+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPF2 was added\ngene: DPF2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DPF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DPF2 were set to Coffin Siris like disorder",
"entity_name": "DPF2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:52.762072+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DONSON was added\ngene: DONSON was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DONSON were set to Microcephaly-micromelia syndrome, 251230; Microcephaly, short stature, and limb abnormalities, 617604",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:52.363246+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOCK7 was added\ngene: DOCK7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DOCK7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK7 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:51.762722+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNM2 was added\ngene: DNM2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: DNM2 were set to PMID: 30208955\nPhenotypes for gene: DNM2 were set to Lethal congenital contracture syndrome 5, 615368",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:51.365860+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNM1L was added\ngene: DNM1L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: DNM1L were set to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:50.966976+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNM1 was added\ngene: DNM1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DNM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DNM1 were set to EPILEPTIC ENCEPHALOPATHY",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:50.363448+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAL1 was added\ngene: DNAL1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAL1 were set to Ciliary dyskinesia, primary, 16, 614017",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:49.961335+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJC19 was added\ngene: DNAJC19 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V 610198",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:49.361036+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJC12 was added\ngene: DNAJC12 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, Dystonia, and Intellectual Disability",
"entity_name": "DNAJC12",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:48.961573+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJB11 was added\ngene: DNAJB11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease, 618061",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:48.563353+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAI2 was added\ngene: DNAI2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus,612444",
"entity_name": "DNAI2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:47.962409+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAAF5 was added\ngene: DNAAF5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF5 were set to Primary ciliary dyskinesia 18, MONDO:0013940; Ciliary dyskinesia, primary, 18, OMIM:614874",
"entity_name": "DNAAF5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:47.561740+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAAF2 was added\ngene: DNAAF2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF2 were set to Ciliary dyskinesia, primary, 10, 612518",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:47.163052+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLX5 was added\ngene: DLX5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DLX5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: DLX5 were set to ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600; Split-hand/foot malformation 1, 183600",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:46.559463+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLG4 was added\ngene: DLG4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DLG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DLG4 were set to DLG4 related intellectual disability",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:46.159879+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DISP1 was added\ngene: DISP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DISP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DISP1 were set to 27363716\nPhenotypes for gene: DISP1 were set to Holoprosencephaly",
"entity_name": "DISP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:45.558982+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DIAPH1 was added\ngene: DIAPH1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DIAPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DIAPH1 were set to Seizures, cortical blindness, microcephaly syndrome, 616632",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:45.074596+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHX30 was added\ngene: DHX30 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DHX30 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DHX30 were set to Neurodevelopmental Disorder",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:44.670175+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHTKD1 was added\ngene: DHTKD1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DHTKD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHTKD1 were set to 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:44.064425+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHDDS was added\ngene: DHDDS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DHDDS were set to Epilepsy and intellectual disability",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:43.660928+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DENND5A was added\ngene: DENND5A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DENND5A were set to Developmental and epileptic encephalopathy, 49, MONDO:0015002; Developmental and epileptic encephalopathy 49, OMIM:617281",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:43.262533+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDX6 was added\ngene: DDX6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DDX6 were set to INTELLECTUAL DISABILITY",
"entity_name": "DDX6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:42.654861+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDX59 was added\ngene: DDX59 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, MONDO:0008267; Orofaciodigital syndrome V, OMIM:174300",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:42.254752+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCDC2 was added\ngene: DCDC2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCDC2 were set to RENAL-HEPATIC CILIOPATHY",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:41.654339+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCC was added\ngene: DCC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCC were set to Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:41.254149+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP4F22 was added\ngene: CYP4F22 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777",
"entity_name": "CYP4F22",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:40.853959+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP26B1 was added\ngene: CYP26B1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies,\t614416",
"entity_name": "CYP26B1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:40.456493+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYB5R3 was added\ngene: CYB5R3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYB5R3 were set to METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE",
"entity_name": "CYB5R3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:39.854180+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CUX2 was added\ngene: CUX2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CUX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CUX2 were set to Developmental epileptic encephalopathy",
"entity_name": "CUX2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:39.457156+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTU2 was added\ngene: CTU2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:39.059132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTNND1 was added\ngene: CTNND1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CTNND1 were set to Blepharo-cheiro-dontic syndrome",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:38.458203+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTDP1 was added\ngene: CTDP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTDP1 were set to 20301787; 14517542; 24690360; 29174527\nPhenotypes for gene: CTDP1 were set to CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:38.062447+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSTA was added\ngene: CSTA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CSTA were set to EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:37.664603+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRIPT was added\ngene: CRIPT was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRIPT were set to Short stature with microcephaly and distinctive facies, 615789",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:37.066514+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRELD1 was added\ngene: CRELD1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CRELD1 were set to HETEROTAXY SYNDROME",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:36.673640+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CREB3L1 was added\ngene: CREB3L1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CREB3L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CREB3L1 were set to Osteogenesis imperfecta, type XVI, 616229",
"entity_name": "CREB3L1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:36.266894+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRADD was added\ngene: CRADD was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CRADD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRADD were set to Megalencephaly with Variant Lissencephaly",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:35.667220+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPAMD8 was added\ngene: CPAMD8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPAMD8 were set to Anterior Segment Dysgenesis",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:35.260266+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COLQ was added\ngene: COLQ was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COLQ were set to 9689136; 11865139\nPhenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:34.654132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COLEC10 was added\ngene: COLEC10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: COLEC10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COLEC10 were set to 3MC syndrome 3, MONDO:0009554; 3MC syndrome 3, OMIM:248340",
"entity_name": "COLEC10",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:34.256552+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL25A1 was added\ngene: COL25A1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL25A1 were set to FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:33.862184+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL13A1 was added\ngene: COL13A1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL13A1 were set to Myasthenic syndrome, congenital, 19, OMIM:616720; Congenital myasthenic syndrome 19, MONDO:0014745",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:33.257060+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL12A1 was added\ngene: COL12A1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: COL12A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL12A1 were set to ?Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy 2, 616471",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:32.858445+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG6 was added\ngene: COG6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl, 614576; Shaheen syndrome, 615328",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:32.462187+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG5 was added\ngene: COG5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COG5 were set to COG5-CDG, MONDO:0013325; Congenital disorder of glycosylation, type III, OMIM:613612",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:31.861107+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNTN1 was added\ngene: CNTN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CNTN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNTN1 were set to 32779773; 19026398\nPhenotypes for gene: CNTN1 were set to Myopathy, congenital, Compton-North, OMIM:612540",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:31.468199+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNKSR2 was added\ngene: CNKSR2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CNKSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CNKSR2 were set to INTELLECTUAL DISABILITY WITH EPILEPSY",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:31.070066+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNBP was added\ngene: CNBP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CNBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CNBP were set to Myotonic dystrophy 2, 602668",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:30.471857+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLTC was added\ngene: CLTC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CLTC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CLTC were set to 33743358\nPhenotypes for gene: CLTC were set to Fetal growth restriction; Mental retardation, autosomal dominant 56, OMIM:617854; Fetal akinesia",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:30.074286+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLPP was added\ngene: CLPP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLPP were set to PERRAULT SYNDROME",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:56:29.748359+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLP1 was added\ngene: CLP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia, type 10, OMIM:615803; Pontocerebellar hypoplasia type 10, MONDO:0014349",
"entity_name": "CLP1",
"entity_type": "gene"
}
]
}