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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1178",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1176",
"results": [
{
"created": "2021-10-24T17:51:57.752952+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHAMP1 was added\ngene: CHAMP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CHAMP1 were set to INTELLECTUAL DISABILITY",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:57.586659+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFTR was added\ngene: CFTR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFTR were set to Cystic fibrosis 219700",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:57.479590+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFC1 was added\ngene: CFC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CFC1 were set to 11062482; 11799476\nPhenotypes for gene: CFC1 were set to Heterotaxy, visceral, 2, autosomal, 605376; CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:57.361389+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFAP53 was added\ngene: CFAP53 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CFAP53 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP53 were set to PMID: 22577226; PMID: 26531781; PMID: 25504577\nPhenotypes for gene: CFAP53 were set to inverted spleen; midline liver; Dextrocardia; Heterotaxy, visceral, 6, autosomal recessive; Transposition of the great arteries; gut malrotation",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:57.198303+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP83 was added\ngene: CEP83 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP83 were set to INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:57.078423+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP57 was added\ngene: CEP57 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP57 were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:56.982059+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP41 was added\ngene: CEP41 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP41 were set to JOUBERT SYNDROME 15",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:56.776335+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP290 was added\ngene: CEP290 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP290 were set to LEBER CONGENITAL AMAUROSIS TYPE 10; BARDET-BIEDL SYNDROME TYPE 14; JOUBERT SYNDROME TYPE 5; SENIOR-LOKEN SYNDROME TYPE 6; MECKEL SYNDROME TYPE 4",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:56.666749+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP164 was added\ngene: CEP164 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP164 were set to Nephronophthisis 15 614845",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:56.556720+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP152 was added\ngene: CEP152 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP152 were set to SECKEL SYNDROME TYPE 5; MICROCEPHALY PRIMARY TYPE 4",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:56.448194+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP120 was added\ngene: CEP120 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP120 were set to PMID: 2720821; 25361962\nPhenotypes for gene: CEP120 were set to Joubert syndrome 31; Short-rib thoracic dysplasia 13 with or without polydactyly",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:56.271880+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP104 was added\ngene: CEP104 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP104 were set to Joubert syndrome 25, 616781",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:56.160498+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CENPJ was added\ngene: CENPJ was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CENPJ were set to SECKEL SYNDROME TYPE 4; MICROCEPHALY PRIMARY TYPE 6",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:56.052732+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDT1 was added\ngene: CDT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDT1 were set to MEIER-GORLIN SYNDROME 4",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:55.880521+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDON was added\ngene: CDON was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CDON were set to HOLOPROSENCEPHALY 11",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:55.772157+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDKN1C was added\ngene: CDKN1C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPhenotypes for gene: CDKN1C were set to IMAGe Syndrome; BECKWITH-WIEDEMANN SYNDROME",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:55.663416+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDKL5 was added\ngene: CDKL5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CDKL5 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: CDKL5 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:55.554908+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDK13 was added\ngene: CDK13 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CDK13 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:55.445297+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDH3 was added\ngene: CDH3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDH3 were set to EEM SYNDROME; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:55.271240+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDH1 was added\ngene: CDH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CDH1 were set to Blepharo-cheiro-dontic syndrome",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:55.164728+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDC6 was added\ngene: CDC6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDC6 were set to MEIER-GORLIN SYNDROME 5",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:55.057340+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDC45 was added\ngene: CDC45 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDC45 were set to Meier-Gorlin Syndrome and Craniosynostosis",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:54.883079+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDAN1 was added\ngene: CDAN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDAN1 were set to 30786798; 29668551; 29599085\nPhenotypes for gene: CDAN1 were set to Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135; Dyserythropoietic anemia, congenital, type Ia, OMIM:224120",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:54.771596+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCND2 was added\ngene: CCND2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CCND2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:54.665355+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC40 was added\ngene: CCDC40 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC40 were set to CILIARY DYSKINESIA, PRIMARY, 15",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:54.555716+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC39 was added\ngene: CCDC39 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC39 were set to CILIARY DYSKINESIA, PRIMARY, 14",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:54.447410+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC114 was added\ngene: CCDC114 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC114 were set to PRIMARY CILIARY DYSKINESIA",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:54.275281+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC103 was added\ngene: CCDC103 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC103 were set to PRIMARY CILIARY DYSKINESIA",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:54.170675+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCBE1 was added\ngene: CCBE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCBE1 were set to HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:54.056972+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CC2D2A was added\ngene: CC2D2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CC2D2A were set to MECKEL SYNDROME, TYPE 6; JOUBERT SYNDROME 9; COACH SYNDROME",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:53.947742+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CBL was added\ngene: CBL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CBL were set to NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:53.775289+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASK was added\ngene: CASK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CASK 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: CASK were set to MENTAL RETARDATION X-LINKED CASK-RELATED; MRX WITH/WITHOUT NYSTAGMUS; FG SYNDROME TYPE 4",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:53.668098+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1E was added\ngene: CACNA1E was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CACNA1E were set to 30849329\nPhenotypes for gene: CACNA1E were set to Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia; Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias\nMode of pathogenicity for gene: CACNA1E was set to Other - please provide details in the comments",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:53.562030+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1C was added\ngene: CACNA1C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CACNA1C were set to TIMOTHY SYNDROME",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:53.456595+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CA8 was added\ngene: CA8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CA8 were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3",
"entity_name": "CA8",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:53.351019+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CA2 was added\ngene: CA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CA2 were set to OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:53.181069+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C8orf37 was added\ngene: C8orf37 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C8orf37 were set to CONE-ROD DYSTROPHY 16",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:53.074136+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C5orf42 was added\ngene: C5orf42 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C5orf42 were set to JOUBERT SYNDROME",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:52.965001+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C21orf2 was added\ngene: C21orf2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C21orf2 were set to Axial Spondylometaphyseal Dysplasia",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:52.857850+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C12orf65 was added\ngene: C12orf65 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C12orf65 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:52.751904+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C11orf70 was added\ngene: C11orf70 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: C11orf70 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C11orf70 were set to 29727692; 29727693\nPhenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA",
"entity_name": "C11orf70",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:52.579949+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BUB1B was added\ngene: BUB1B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BUB1B were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:52.473866+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BTD was added\ngene: BTD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BTD were set to BIOTINIDASE DEFICIENCY",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:52.368524+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BSND was added\ngene: BSND was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BSND were set to BARTTER SYNDROME TYPE 4A",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:52.261920+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRPF1 was added\ngene: BRPF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: BRPF1 were set to BRPF1 associated syndromic intellectual disability with ptosis",
"entity_name": "BRPF1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:52.156733+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRIP1 was added\ngene: BRIP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRIP1 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP J",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:52.049946+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRCA2 was added\ngene: BRCA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRCA2 were set to FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:51.879144+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRAT1 was added\ngene: BRAT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRAT1 were set to 23035047\nPhenotypes for gene: BRAT1 were set to LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:51.772228+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRAF was added\ngene: BRAF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: BRAF were set to NOONAN SYNDROME TYPE 7; CARDIOFACIOCUTANEOUS SYNDROME; LEOPARD SYNDROME TYPE 3",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:51.668268+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BMPR1B was added\ngene: BMPR1B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BMPR1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BMPR1B were set to Acromesomelic dysplasia, Demirhan type, OMIM:609441",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:51.563904+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BMPER was added\ngene: BMPER was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BMPER were set to DIAPHANOSPONDYLODYSOSTOSIS",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:51.476350+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BMP4 was added\ngene: BMP4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: BMP4 were set to OROFACIAL CLEFT 11; MICROPHTHALMIA, SYNDROMIC 6",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:51.353202+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BMP2 was added\ngene: BMP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: BMP2 were set to Short stature, palatal anomalies, congenital heart disease, and skeletal malformations; Brachydactyly, type A2 112600",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:51.246412+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BMP1 was added\ngene: BMP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BMP1 were set to 28513615\nPhenotypes for gene: BMP1 were set to Osteogenesis imperfecta type XIII 614856",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:51.082449+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BLM was added\ngene: BLM was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BLM were set to BLOOM SYNDROME",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:50.984785+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BIN1 was added\ngene: BIN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BIN1 were set to CENTRONUCLEAR MYOPATHY 2",
"entity_name": "BIN1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:50.882396+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BICD2 was added\ngene: BICD2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BICD2 were set to 27751653; 30054298; 29274205; 28635954\nPhenotypes for gene: BICD2 were set to reduced fetal movements; PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); hydrops fetalis; Pterygium\nMode of pathogenicity for gene: BICD2 was set to Other",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:50.755897+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BHLHA9 was added\ngene: BHLHA9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BHLHA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: BHLHA9 were set to ?Camptosynpolydactyly, complex, OMIM:607539; Syndactyly, mesoaxial synostotic, with phalangeal reduction, OMIM:609432; SPLIT HAND AND FOOT MALFORMATION; MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE",
"entity_name": "BHLHA9",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:50.646884+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BGN was added\ngene: BGN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: BGN were set to 27236923; 27632686\nPhenotypes for gene: BGN were set to Meester-Loeys syndrome, 300989; X-Linked Spondyloepimetaphyseal Dysplasia; Severe syndromic form of thoracic aortic aneurysm & dissection; Spondyloepimetaphyseal dysplasia, X-linked, 300106",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:50.476038+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BFSP2 was added\ngene: BFSP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: BFSP2 were set to CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED",
"entity_name": "BFSP2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:50.371155+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCS1L was added\ngene: BCS1L was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCS1L were set to 30712880\nPhenotypes for gene: BCS1L were set to GRACILE syndrome, 603358; GRACILE SYNDROME",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:50.266755+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCOR was added\ngene: BCOR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BCOR 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: BCOR were set to MICROPHTHALMIA SYNDROMIC TYPE 2",
"entity_name": "BCOR",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:50.163916+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCL11A was added\ngene: BCL11A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BCL11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: BCL11A were set to INTELLECTUAL DISABILITY",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:50.053922+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCAP31 was added\ngene: BCAP31 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: BCAP31 were set to DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:49.951038+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS9 was added\ngene: BBS9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS9 were set to BARDET-BIEDL SYNDROME TYPE 9",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:49.846712+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS7 was added\ngene: BBS7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS7 were set to BARDET-BIEDL SYNDROME TYPE 7",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:49.666987+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS5 was added\ngene: BBS5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS5 were set to BARDET-BIEDL SYNDROME TYPE 5",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:49.560761+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS4 was added\ngene: BBS4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BBS4 were set to 28425981\nPhenotypes for gene: BBS4 were set to BARDET-BIEDL SYNDROME TYPE 4",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:49.457286+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS2 was added\ngene: BBS2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS2 were set to BARDET-BIEDL SYNDROME TYPE 2",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:49.353781+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS12 was added\ngene: BBS12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS12 were set to BARDET-BIEDL SYNDROME TYPE 12",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:49.249160+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS10 was added\ngene: BBS10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS10 were set to BARDET-BIEDL SYNDROME TYPE 10",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:49.080212+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS1 was added\ngene: BBS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1 MONDO:0008854; Bardet-Biedl syndrome 1 OMIM:209900",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:48.976743+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B4GALT7 was added\ngene: B4GALT7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B4GALT7 were set to EHLERS-DANLOS SYNDROME PROGEROID TYPE",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:48.871857+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B3GLCT was added\ngene: B3GLCT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B3GLCT were set to 29096039\nPhenotypes for gene: B3GLCT were set to PETERS-PLUS SYNDROME 261540",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:48.768157+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B3GAT3 was added\ngene: B3GAT3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:48.666274+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B3GALT6 was added\ngene: B3GALT6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GALT6 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1; EHLERS-DANLOS SYNDROME",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:48.562603+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATRX was added\ngene: ATRX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ATRX were set to ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE; MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:48.459578+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP7A was added\ngene: ATP7A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ATP7A were set to 23035047\nPhenotypes for gene: ATP7A were set to SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; MENKES DISEASE; OCCIPITAL HORN SYNDROME",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:48.354661+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V0A2 was added\ngene: ATP6V0A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA; Wrinkly skin syndrome 219200",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:48.252090+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATIC was added\ngene: ATIC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATIC were set to AICA-RIBOSURIA",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:48.147657+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATAD3A was added\ngene: ATAD3A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ATAD3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATAD3A were set to 33845882; 28549128; 28158749; 29053797; 32607449; 32004445; 33575671; 31727539; 28327206; 27640307\nPhenotypes for gene: ATAD3A were set to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810; Harel-Yoon syndrome, OMIM:617183\nMode of pathogenicity for gene: ATAD3A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:47.978582+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASXL1 was added\ngene: ASXL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ASXL1 were set to BOHRING-OPITZ SYNDROME",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:47.876262+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASS1 was added\ngene: ASS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASS1 were set to CITRULLINEMIA TYPE I",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:47.774108+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASPM was added\ngene: ASPM was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASPM were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:47.672787+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASPA was added\ngene: ASPA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASPA were set to CANAVAN DISEASE",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:47.570354+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASNS was added\ngene: ASNS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASNS were set to Asparagine synthetase deficiency 615574",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:47.466757+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASCC1 was added\ngene: ASCC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASCC1 were set to 28749478; 26924529; 30327447\nPhenotypes for gene: ASCC1 were set to spinal muscular atrophy; hypotonia; contractures; fetal akinesia; arthrogryposis",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:47.365033+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASAH1 was added\ngene: ASAH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASAH1 were set to SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY; FARBER LIPOGRANULOMATOSIS",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:47.266942+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARX was added\ngene: ARX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ARX were set to AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA; EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1; PARTINGTON SYNDROME; MENTAL RETARDATION X-LINKED ARX-RELATED; LISSENCEPHALY X-LINKED TYPE 2",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:47.160894+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARSE was added\ngene: ARSE was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ARSE were set to CHONDRODYSPLASIA PUNCTATA 1, X-LINKED",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:47.058166+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARSB was added\ngene: ARSB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARSB were set to MUCOPOLYSACCHARIDOSIS TYPE 6",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:46.956173+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARSA was added\ngene: ARSA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARSA were set to ARYLSULFATASE A DEFICIENCY",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:46.855119+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARMC9 was added\ngene: ARMC9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARMC9 were set to Joubert syndrome 30",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:46.753105+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARMC4 was added\ngene: ARMC4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARMC4 were set to CILIARY DYSKINESIA, PRIMARY, 23",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:46.651446+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARL6 was added\ngene: ARL6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARL6 were set to RETINITIS PIGMENTOSA TYPE 55; BARDET-BIEDL SYNDROME TYPE 3",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:46.549956+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARL13B was added\ngene: ARL13B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL13B were set to 25138100; 18674751; 29255182\nPhenotypes for gene: ARL13B were set to Joubert syndrome 8, 612291",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:46.448342+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARID1B was added\ngene: ARID1B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ARID1B were set to COFFIN SIRIS SYNDROME; MENTAL RETARDATION, AUTOSOMAL DOMINANT 12",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:46.346496+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARID1A was added\ngene: ARID1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ARID1A were set to COFFIN-SIRIS SYNDROME",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:46.180287+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARHGAP31 was added\ngene: ARHGAP31 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ARHGAP31 were set to ADAMS-OLIVER SYNDROME 1",
"entity_name": "ARHGAP31",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:46.079142+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARCN1 was added\ngene: ARCN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ARCN1 were set to 27476655\nPhenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164; Microcephalic dwarfism",
"entity_name": "ARCN1",
"entity_type": "gene"
}
]
}