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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1179",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1177",
"results": [
{
"created": "2021-10-24T17:51:45.978706+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AR was added\ngene: AR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AR were set to SPINAL AND BULBAR MUSCULAR ATROPHY; ANDROGEN INSENSITIVITY SYNDROME",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:45.870469+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP4E1 was added\ngene: AP4E1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP4E1 were set to Hereditary spastic paraplegia 51, MONDO:0013401; Spastic paraplegia 51, autosomal recessive, OMIM:613744",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:45.789237+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP1S2 was added\ngene: AP1S2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AP1S2 were set to Pettigrew syndrome, OMIM:304340",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:45.683640+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANTXR1 was added\ngene: ANTXR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ANTXR1 were set to GAPO SYNDROME",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:45.560694+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANOS1 was added\ngene: ANOS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:45.458027+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANKRD11 was added\ngene: ANKRD11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ANKRD11 were set to KBG SYNDROME",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:45.355991+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANKH was added\ngene: ANKH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ANKH were set to CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE; CHONDROCALCINOSIS 2",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:45.254883+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANAPC1 was added\ngene: ANAPC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANAPC1 were set to 31303264\nPhenotypes for gene: ANAPC1 were set to Rothmund-Thomson Syndrome Type 1",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:45.153129+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMT was added\ngene: AMT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMT were set to GLYCINE ENCEPHALOPATHY",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:45.059444+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMPD2 was added\ngene: AMPD2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMPD2 were set to PONTOCEREBELLAR HYPOPLASIA",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:44.949902+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMER1 was added\ngene: AMER1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: AMER1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: AMER1 were set to 28425981\nPhenotypes for gene: AMER1 were set to OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS",
"entity_name": "AMER1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:44.852896+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALX4 was added\ngene: ALX4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ALX4 were set to FRONTONASAL DYSPLASIA 2; PARIETAL FORAMINA 2",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:44.751948+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALX3 was added\ngene: ALX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALX3 were set to FRONTONASAL DYSPLASIA TYPE 1",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:44.651862+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALX1 was added\ngene: ALX1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALX1 were set to FRONTONASAL DYSPLASIA TYPE 3",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:44.549117+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALPL was added\ngene: ALPL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ALPL were set to HYPOPHOSPHATASIA",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:44.452182+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALMS1 was added\ngene: ALMS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALMS1 were set to ALSTROM SYNDROME",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:44.352453+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG8 was added\ngene: ALG8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG8 were set to ALG8-CDG",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:44.253484+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG6 was added\ngene: ALG6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG6 were set to ALG6-CDG",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:44.153864+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG3 was added\ngene: ALG3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG3 were set to 16006436\nPhenotypes for gene: ALG3 were set to ALG3-CDG",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:44.053522+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG12 was added\ngene: ALG12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG12 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:43.953558+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG1 was added\ngene: ALG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG1 were set to ALG1-CDG",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:43.853586+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDOA was added\ngene: ALDOA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDOA were set to GLYCOGEN STORAGE DISEASE XII",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:43.751601+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH7A1 was added\ngene: ALDH7A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH7A1 were set to PYRIDOXINE-DEPENDENT EPILEPSY",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:43.658751+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH3A2 was added\ngene: ALDH3A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH3A2 were set to SJOEGREN-LARSSON SYNDROME",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:43.554877+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH1A3 was added\ngene: ALDH1A3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH1A3 were set to ANOPHTHALMIA/MICROPHTHALMIA",
"entity_name": "ALDH1A3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:43.456410+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH18A1 was added\ngene: ALDH18A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH18A1 were set to SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES; CUTIS LAXA, AUTOSOMAL DOMINANT 3",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:43.357646+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AKT3 was added\ngene: AKT3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: AKT3 were set to HEMIMEGALENCEPHALY AKT3\nMode of pathogenicity for gene: AKT3 was set to Other",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:43.260762+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AKT1 was added\ngene: AKT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: AKT1 were set to 33030203\nPhenotypes for gene: AKT1 were set to PROTEUS SYNDROME",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:43.165766+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AHI1 was added\ngene: AHI1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AHI1 were set to JOUBERT SYNDROME",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:43.064471+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AHDC1 was added\ngene: AHDC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: AHDC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: AHDC1 were set to XIA-GIBBS SYNDROME",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:42.965899+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGPS was added\ngene: AGPS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGPS were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:42.866549+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGL was added\ngene: AGL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGL were set to GLYCOGEN STORAGE DISEASE TYPE III",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:42.769782+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGK was added\ngene: AGK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGK were set to SENGERS SYNDROME",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:42.672581+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AFF4 was added\ngene: AFF4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: AFF4 were set to CORNELIA DE LANGE-LIKE SYNDROME",
"entity_name": "AFF4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:42.573492+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADSL was added\ngene: ADSL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADSL were set to ADENYLOSUCCINASE DEFICIENCY",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:42.477554+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADNP was added\ngene: ADNP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ADNP were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28",
"entity_name": "ADNP",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:42.445230+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADGRG6 was added\ngene: ADGRG6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADGRG6 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 9",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:42.347467+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADGRG1 was added\ngene: ADGRG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADGRG1 were set to POLYMICROGYRIA",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:42.249930+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAR was added\ngene: ADAR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ADAR were set to AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE; DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:42.155074+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTSL2 was added\ngene: ADAMTSL2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1 231050",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:42.055682+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTS17 was added\ngene: ADAMTS17 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS17 were set to 19836009; 22486325; 30712880; 24940034\nPhenotypes for gene: ADAMTS17 were set to Weill-Marchesani 4 syndrome, recessive, 613195",
"entity_name": "ADAMTS17",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:41.958230+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTS10 was added\ngene: ADAMTS10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive 277600",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:41.861864+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACY1 was added\ngene: ACY1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACY1 were set to AMINOACYLASE-1 DEFICIENCY",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:41.762993+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACVR2B was added\ngene: ACVR2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ACVR2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACVR2B were set to PMID: 9916847; PMID: 9242489\nPhenotypes for gene: ACVR2B were set to Heterotaxy; Dextrocardia; polysplenia; Gut malrotation; Double outlet right ventricle; Transposition of the great arteries; asplenia; right-sided spleen",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:41.666836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTG2 was added\ngene: ACTG2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ACTG2 were set to 31070878; 25998219; 30712878\nPhenotypes for gene: ACTG2 were set to Fetal Megacystis; Visceral myopathy 155310\nMode of pathogenicity for gene: ACTG2 was set to Other",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:41.570778+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTG1 was added\ngene: ACTG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ACTG1 were set to BARAITSER-WINTER SYNDROME",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:41.473820+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTC1 was added\ngene: ACTC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ACTC1 were set to 24461919\nPhenotypes for gene: ACTC1 were set to Atrial septal defect 5 612794",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:41.380143+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTB was added\ngene: ACTB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTB were set to ACTB Haploinsufficiency syndtome; BARAITSER-WINTER SYNDROME",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:41.346318+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTA2 was added\ngene: ACTA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ACTA2 were set to AORTIC ANEURYSM, FAMILIAL THORACIC 6; MOYAMOYA DISEASE 5",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:41.250029+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTA1 was added\ngene: ACTA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ACTA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ACTA1 were set to 30266093\nPhenotypes for gene: ACTA1 were set to Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:41.153745+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACP5 was added\ngene: ACP5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACP5 were set to SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION",
"entity_name": "ACP5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:41.057505+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACOX1 was added\ngene: ACOX1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470; ADRENOLEUKODYSTROPHY PSEUDONEONATAL",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:40.961744+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACE was added\ngene: ACE was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACE were set to 30058238\nPhenotypes for gene: ACE were set to Renal tubular dysgenesis 267430",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:40.862479+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACAN was added\ngene: ACAN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ACAN were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE; SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:40.767333+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACADVL was added\ngene: ACADVL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADVL were set to VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:40.670641+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACAD9 was added\ngene: ACAD9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACAD9 were set to 26475292\nPhenotypes for gene: ACAD9 were set to ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:40.574616+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABHD5 was added\ngene: ABHD5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABHD5 were set to CHANARIN-DORFMAN SYNDROME",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:40.475487+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCC9 was added\ngene: ABCC9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ABCC9 were set to CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:40.379905+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCC6 was added\ngene: ABCC6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCC6 were set to ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:40.347995+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCA12 was added\ngene: ABCA12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive 242500",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:40.250802+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AAAS was added\ngene: AAAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AAAS were set to Triple-A syndrome, MONDO:0009279; Achalasia-addisonianism-alacrimia syndrome, OMIM:231550",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:40.166142+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel Fetal anomalies",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-10-24T17:26:56.843746+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNGB3 as ready",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:26:56.834424+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cngb3 has been classified as Green List (High Evidence).",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:26:50.481462+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association. The c.1148delC is a common founder variant in the Pingelapese.; to: Well established gene-disease association. The c.1148delC is a common founder variant in the Pingelapese. Nystagmus is a feature.",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:26:09.036709+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNGA3 as ready",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:26:09.025229+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnga3 has been classified as Green List (High Evidence).",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:26:01.318926+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association, over 100 families reported.; to: Well established gene-disease association, over 100 families reported. Characterized by photophobia, reduced visual acuity, nystagmus, and the complete inability to discriminate between colours. Electroretinographic recordings show that in achromatopsia the rod photoreceptor function is normal, whereas cone photoreceptor responses are absent.",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:25:13.719695+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:CHM from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-10-24T17:24:21.826169+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP290 as ready",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:24:21.815857+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep290 has been classified as Green List (High Evidence).",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:24:18.903270+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP290 were changed from to Leber congenital amaurosis 10, MIM# 611755",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:24:11.753232+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP290 were set to ",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:24:03.367168+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP290 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:23:54.731401+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909394, 17554762, 33957996, 31734136; Phenotypes: Leber congenital amaurosis 10, MIM# 611755; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:20:57.740439+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASK as ready",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:20:57.730653+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cask has been classified as Green List (High Evidence).",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:20:55.810540+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASK were changed from Mental retardation, with or without nystagmus 300422; FG syndrome 4 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD to Mental retardation, with or without nystagmus, MIM# 300422",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:20:46.571412+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CASK were set to ",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:20:36.472094+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19377476; Phenotypes: Mental retardation, with or without nystagmus, MIM# 300422; Mode of inheritance: None",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:18:17.146363+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:CACNA2D4 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-10-24T17:14:31.768539+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1F as ready",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:14:31.759050+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1f has been classified as Green List (High Evidence).",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:14:28.697608+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1F were changed from Aland Island eye disease 300600 XL; Aland Island eye disease, 300600; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071; Cone-rod dystropy, X-linked, 3, 300476; Cone-rod dystrophy, X-linked, 3 300476 XLR; Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL to Aland Island eye disease, MIM# 300600; Cone-rod dystrophy, X-linked, 3, MIM# 300476",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:14:17.989781+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA1F were set to ",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:14:04.570253+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1F: Rating: GREEN; Mode of pathogenicity: None; Publications: 17525176, 16505158, 23776498, 24124559; Phenotypes: Aland Island eye disease, MIM# 300600, Cone-rod dystrophy, X-linked, 3, MIM# 300476; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:10:42.042756+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1A as ready",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:10:42.031822+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1a has been classified as Green List (High Evidence).",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:10:40.143315+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1A were changed from Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; CACNA1A-Related Episodic Ataxia Type 2; Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated to Developemental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2, MIM# 108500; Migraine, familial hemiplegic, 1, MIM# 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia 6, MIM# 183086",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:10:21.745971+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developemental and epileptic encephalopathy 42, MIM# 617106, Episodic ataxia, type 2, MIM# 108500, Migraine, familial hemiplegic, 1, MIM# 141500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500, Spinocerebellar ataxia 6, MIM# 183086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:08:39.096044+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CABP4 as ready",
"entity_name": "CABP4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:08:39.086240+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cabp4 has been classified as Green List (High Evidence).",
"entity_name": "CABP4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:08:31.690035+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CABP4 were changed from to Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427",
"entity_name": "CABP4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:08:14.560514+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CABP4 were set to ",
"entity_name": "CABP4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:07:50.358614+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CABP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CABP4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:07:34.731699+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CABP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960802, 19074807, 20157620; Phenotypes: Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CABP4",
"entity_type": "gene"
},
{
"created": "2021-10-24T16:51:28.518456+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CABP4 as ready",
"entity_name": "CABP4",
"entity_type": "gene"
},
{
"created": "2021-10-24T16:51:28.507661+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cabp4 has been classified as Green List (High Evidence).",
"entity_name": "CABP4",
"entity_type": "gene"
},
{
"created": "2021-10-24T16:51:26.789271+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CABP4 were changed from Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427 to Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427",
"entity_name": "CABP4",
"entity_type": "gene"
},
{
"created": "2021-10-24T16:51:16.550094+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CABP4 were set to ",
"entity_name": "CABP4",
"entity_type": "gene"
}
]
}