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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1164",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1162",
"results": [
{
"created": "2021-10-24T18:01:09.167721+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLN8 was added\ngene: CLN8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN8 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 8; NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:08.653528+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLN6 was added\ngene: CLN6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN6 were set to CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET; CEROID LIPOFUSCINOSIS, NEURONAL, 6",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:07.871200+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLN5 was added\ngene: CLN5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN5 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 5",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:07.362950+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLN3 was added\ngene: CLN3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN3 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 3",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:06.652044+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLDN19 was added\ngene: CLDN19 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLDN19 were set to HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:05.866376+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CISD2 was added\ngene: CISD2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CISD2 were set to WOLFRAM SYNDROME TYPE 2",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:05.360114+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CIB2 was added\ngene: CIB2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CIB2 were set to NONSYNDROMIC DEAFNESS DFNB48; USHER SYNDROME TYPE 1J",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:04.645337+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRNA4 was added\ngene: CHRNA4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CHRNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CHRNA4 were set to NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:04.070270+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRDL1 was added\ngene: CHRDL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CHRDL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CHRDL1 were set to MEGALOCORNEA, X-LINKED",
"entity_name": "CHRDL1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:03.348356+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHD2 was added\ngene: CHD2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CHD2 were set to EPILEPTIC ENCEPHALOPATHY",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:02.759099+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCNO was added\ngene: CCNO was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CCNO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCNO were set to 30166424\nPhenotypes for gene: CCNO were set to CILIARY DYSKINESIA, PRIMARY, 29",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:01.882511+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC65 was added\ngene: CCDC65 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CCDC65 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC65 were set to 30166424\nPhenotypes for gene: CCDC65 were set to PRIMARY CILIARY DYSKINESIA",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:01.159303+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC115 was added\ngene: CCDC115 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC115 were set to Disorder of Golgi homeostasis",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:59.660637+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CC2D1A was added\ngene: CC2D1A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CC2D1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CC2D1A were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:59.155208+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CBS was added\ngene: CBS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CBS were set to CYSTATHIONINE BETA-SYNTHASE DEFICIENCY",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:58.370180+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAVIN1 was added\ngene: CAVIN1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4 613327",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:57.865719+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CALCRL was added\ngene: CALCRL was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CALCRL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CALCRL were set to 16537897; 30115739\nPhenotypes for gene: CALCRL were set to Lymphatic malformation 8, MONDO:0032907; Lymphatic malformation 8, OMIM:618773; Hydrops fetalis",
"entity_name": "CALCRL",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:57.157196+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAD was added\ngene: CAD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CAD were set to Uridine-responsive epileptic encephalopathy",
"entity_name": "CAD",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:56.563644+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C4orf26 was added\ngene: C4orf26 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: C4orf26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C4orf26 were set to 22901946\nPhenotypes for gene: C4orf26 were set to Amelogenesis imperfecta, type IIA4, 614832",
"entity_name": "C4orf26",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:55.852975+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C2orf71 was added\ngene: C2orf71 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: C2orf71 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C2orf71 were set to RETINITIS PIGMENTOSA 54",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:55.350420+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRWD3 was added\ngene: BRWD3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: BRWD3 were set to MENTAL RETARDATION X-LINKED TYPE 93",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:54.567256+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRCA1 was added\ngene: BRCA1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRCA1 were set to INTELLECTUAL DISABILITY",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:54.060373+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCKDHB was added\ngene: BCKDHB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHB were set to MAPLE SYRUP URINE DISEASE",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:53.351514+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCKDHA was added\ngene: BCKDHA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHA were set to MAPLE SYRUP URINE DISEASE",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:52.572553+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AUTS2 was added\ngene: AUTS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: AUTS2 were set to SYNDROMIC INTELLECTUAL DISABILITY",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:52.068067+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AUH was added\ngene: AUH was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AUH were set to 3-METHYLGLUTACONIC ACIDURIA TYPE 1",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:51.356626+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP8B1 was added\ngene: ATP8B1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP8B1 were set to ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:50.851771+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V1B1 was added\ngene: ATP6V1B1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V1B1 were set to DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:50.070342+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP1A3 was added\ngene: ATP1A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\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; ALTERNATING HEMIPLEGIA OF CHILDHOOD",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:49.565235+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP13A2 was added\ngene: ATP13A2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP13A2 were set to PARKINSON DISEASE 9",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:48.853180+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATM was added\ngene: ATM was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATM were set to ATAXIA-TELANGIECTASIA",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:48.266489+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASL was added\ngene: ASL was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASL were set to ARGININOSUCCINATE LYASE DEFICIENCY",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:47.557878+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARG1 was added\ngene: ARG1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARG1 were set to ARGININEMIA",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:47.053870+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APTX was added\ngene: APTX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APTX were set to ATAXIA WITH OCULOMOTOR APRAXIA 1",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:46.272077+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APOPT1 was added\ngene: APOPT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APOPT1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:45.765752+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP3B1 was added\ngene: AP3B1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2 608233",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:45.054225+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANO5 was added\ngene: ANO5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ANO5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ANO5 were set to GNATHODIAPHYSEAL DYSPLASIA; MIYOSHI MUSCULAR DYSTROPHY TYPE 3",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:44.546098+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALS2 was added\ngene: ALS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALS2 were set to ALS2-RELATED DISORDERS",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:43.767603+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDOB was added\ngene: ALDOB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDOB were set to HEREDITARY FRUCTOSE INTOLERANCE",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:43.259381+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH5A1 was added\ngene: ALDH5A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH5A1 were set to SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:42.551101+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH4A1 was added\ngene: ALDH4A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH4A1 were set to HYPERPROLINEMIA TYPE 2",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:42.055207+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALAD was added\ngene: ALAD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALAD were set to ACUTE HEPATIC PORPHYRIA",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:41.263274+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AKR1D1 was added\ngene: AKR1D1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AKR1D1 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:40.758166+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AK2 was added\ngene: AK2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AK2 were set to RETICULAR DYSGENESIS",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:40.046426+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AIRE was added\ngene: AIRE was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AIRE were set to AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:39.470197+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AIPL1 was added\ngene: AIPL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AIPL1 were set to LEBER CONGENITAL AMAUROSIS 4",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:38.763033+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGXT was added\ngene: AGXT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGXT were set to HYPEROXALURIA, PRIMARY, TYPE 1",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:38.251653+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGRN was added\ngene: AGRN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGRN were set to 31730230\nPhenotypes for gene: AGRN were set to Fetal akinesia deformation sequence (FADS)",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:37.470758+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGPAT2 was added\ngene: AGPAT2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGPAT2 were set to 22902344\nPhenotypes for gene: AGPAT2 were set to Lipodystrophy 608594",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:36.971454+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGA was added\ngene: AGA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGA were set to ASPARTYLGLUCOSAMINURIA",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:36.261984+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AFF2 was added\ngene: AFF2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AFF2 were set to FRAGILE X-E MENTAL RETARDATION SYNDROME",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:35.755077+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADA was added\ngene: ADA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADA were set to ADENOSINE DEAMINASE DEFICIENCY",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:34.970375+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACVRL1 was added\ngene: ACVRL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:34.463662+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACAT1 was added\ngene: ACAT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACAT1 were set to ALPHA-METHYLACETOACETIC ACIDURIA",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:33.756022+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACADS was added\ngene: ACADS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADS were set to SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:33.048588+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACADM was added\ngene: ACADM was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADM were set to MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:32.475176+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCD1 was added\ngene: ABCD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ABCD1 were set to ADRENOLEUKODYSTROPHY, X-LINKED",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:31.763126+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCC8 was added\ngene: ABCC8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ABCC8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial 256450",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:31.253625+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCB7 was added\ngene: ABCB7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ABCB7 were set to ANEMIA, SIDEROBLASTIC, WITH ATAXIA",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:30.468373+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCB11 was added\ngene: ABCB11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCB11 were set to ABCB11-RELATED INTRAHEPATIC CHOLESTASIS",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:29.961286+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZSWIM6 was added\ngene: ZSWIM6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ZSWIM6 were set to ACROMELIC FRONTONASAL DYSOSTOSIS",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:29.256626+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF750 was added\ngene: ZNF750 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ZNF750 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ZNF750 were set to SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS",
"entity_name": "ZNF750",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:28.755489+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF462 was added\ngene: ZNF462 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ZNF462 were set to Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:27.971295+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF423 was added\ngene: ZNF423 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ZNF423 were set to 22863007\nPhenotypes for gene: ZNF423 were set to Joubert syndrome 19 614844; Nephronophthisis 14 614844",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:27.471718+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZMYND11 was added\ngene: ZMYND11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ZMYND11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ZMYND11 were set to INTELLECTUAL DISABILITY",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:26.757225+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZMYND10 was added\ngene: ZMYND10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZMYND10 were set to PRIMARY CILIARY DYSKINESIA-22",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:26.252598+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YWHAG was added\ngene: YWHAG was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: YWHAG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: YWHAG were set to Early-Onset Epilepsy",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:25.468589+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YAP1 was added\ngene: YAP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: YAP1 were set to COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:24.965904+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XYLT2 was added\ngene: XYLT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XYLT2 were set to SPONDYLOOCULAR SYNDROME",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:24.258832+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WWOX was added\ngene: WWOX was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WWOX were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:23.755692+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNT4 was added\ngene: WNT4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: WNT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: WNT4 were set to MULLERIAN APLASIA AND HYPERANDROGENISM; SERKAL SYNDROME",
"entity_name": "WNT4",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:22.971237+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNT3 was added\ngene: WNT3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT3 were set to 18837045; 16283889; 14872406\nPhenotypes for gene: WNT3 were set to TETRA-AMELIA SYNDROME",
"entity_name": "WNT3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:22.472826+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR81 was added\ngene: WDR81 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR81 were set to 28556411\nPhenotypes for gene: WDR81 were set to Hydrocephalus, congenital, 3, with brain anomalies, MONDO:0054794; Hydrocephalus, congenital, 3, with brain anomalies, OMIM:617967",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:21.762266+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR73 was added\ngene: WDR73 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR73 were set to Galloway-Mowat syndrome 1, 251300; GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:21.257198+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WBP11 was added\ngene: WBP11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: WBP11 were set to 33276377\nPhenotypes for gene: WBP11 were set to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:20.548492+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VRK1 was added\ngene: VRK1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VRK1 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:20.048496+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VEGFC was added\ngene: VEGFC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: VEGFC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: VEGFC were set to Lymphatic malformation 4",
"entity_name": "VEGFC",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:19.265317+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VDR was added\ngene: VDR was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VDR were set to RICKETS VITAMIN D-DEPENDENT TYPE 2A",
"entity_name": "VDR",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:18.766483+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VAMP1 was added\ngene: VAMP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VAMP1 were set to 28600779; 28168212; 28253535\nPhenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:18.051255+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USP9X was added\ngene: USP9X was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: USP9X were set to MENTAL RETARDATION, X-LINKED 99",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:17.550601+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USP27X was added\ngene: USP27X was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: USP27X were set to INTELLECTUAL DISABILITY",
"entity_name": "USP27X",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:16.765931+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USP18 was added\ngene: USP18 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP18 were set to 27325888; 12833411; 31940699\nPhenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, 617397",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:16.269698+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UQCRQ was added\ngene: UQCRQ was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UQCRQ were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:15.557053+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UQCRB was added\ngene: UQCRB was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UQCRB were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:15.053925+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBTF was added\ngene: UBTF was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: UBTF were set to Childhood-Onset Neurodegeneration",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:14.346231+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBE2T was added\ngene: UBE2T was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBE2T were set to 26046368\nPhenotypes for gene: UBE2T were set to FANCONI ANEMIA, COMPLEMENTATION GROUP T",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:13.846778+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TXNDC15 was added\ngene: TXNDC15 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TXNDC15 were set to 27894351\nPhenotypes for gene: TXNDC15 were set to Meckel Gruber syndrome",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:13.072079+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUFM was added\ngene: TUFM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TUFM were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:12.566150+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBGCP4 was added\ngene: TUBGCP4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUBGCP4 were set to 25817018\nPhenotypes for gene: TUBGCP4 were set to AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:11.862552+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBG1 was added\ngene: TUBG1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TUBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TUBG1 were set to 27010057; 23603762\nPhenotypes for gene: TUBG1 were set to Posteriorly predominant pachygyria and severe microcephaly",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:11.360703+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBB3 was added\ngene: TUBB3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TUBB3 were set to 32573066\nPhenotypes for gene: TUBB3 were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:10.654153+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTI2 was added\ngene: TTI2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTI2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:10.151961+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC25 was added\ngene: TTC25 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC25 were set to Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:09.448226+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSFM was added\ngene: TSFM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TSFM were set to 31267352\nPhenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:08.946570+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSEN34 was added\ngene: TSEN34 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSEN34 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4",
"entity_name": "TSEN34",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:08.158821+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSEN2 was added\ngene: TSEN2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSEN2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:07.655111+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSEN15 was added\ngene: TSEN15 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSEN15 were set to Pontocerebellar Hypoplasia and Progressive Microcephaly",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:06.878341+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPV3 was added\ngene: TRPV3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TRPV3 were set to OLMSTED SYNDROME",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:06.345234+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPM7 was added\ngene: TRPM7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPM7 were set to 32503408; 31423533\nPhenotypes for gene: TRPM7 were set to Cardiac arrhythmia, stillbirth",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:05.513887+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRMT10C was added\ngene: TRMT10C was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TRMT10C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRMT10C were set to Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies",
"entity_name": "TRMT10C",
"entity_type": "gene"
}
]
}