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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1088",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1086",
"results": [
{
"created": "2021-12-11T17:12:15.493427+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNB1 were changed from to Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:11:50.778028+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRNB1 were set to ",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:11:22.015882+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRNB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:10:57.574056+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8872460, 8651643, 27375219, 32504635, 10562302; Phenotypes: Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:09:55.333753+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNB1 as ready",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:09:55.324183+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnb1 has been classified as Green List (High Evidence).",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:09:47.671273+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNB1 were changed from to Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:09:30.459633+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRNB1 were set to ",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:09:09.244533+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRNB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:08:50.174094+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8872460, 8651643, 27375219, 32504635, 10562302; Phenotypes: Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:07:36.157308+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNB1 as ready",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:07:36.145999+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnb1 has been classified as Green List (High Evidence).",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:07:31.986192+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNB1 were changed from ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Myasthenic syndrome, congenital, 2A, slow-channel, 616313 to Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:07:18.189939+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRNB1 were set to ",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:07:06.103260+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHRNB1 as Green List (high evidence)",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:07:06.092353+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnb1 has been classified as Green List (High Evidence).",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:06:52.663190+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8872460, 8651643, 27375219, 32504635, 10562302; Phenotypes: Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:04:12.547112+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNA3 were changed from CAKUT; dysautonomia to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800",
"entity_name": "CHRNA3",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:03:57.101077+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNA3 as ready",
"entity_name": "CHRNA3",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:03:57.090602+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrna3 has been classified as Green List (High Evidence).",
"entity_name": "CHRNA3",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:03:53.130760+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNA3 were changed from Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800 to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800",
"entity_name": "CHRNA3",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:03:38.727561+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRNA3 were set to ",
"entity_name": "CHRNA3",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:03:28.380741+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHRNA3 as Green List (high evidence)",
"entity_name": "CHRNA3",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:03:28.371682+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrna3 has been classified as Green List (High Evidence).",
"entity_name": "CHRNA3",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:03:16.595378+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Five individuals from three unrelated families.; to: Five individuals from three unrelated families.\r\n\r\nOnset is in utero or early childhood.\r\n\r\nAffected individuals have impaired neuronal bladder and ureteral innervation causing coordination defects that result in secondary structural defects of the renal system, including hydronephrosis, vesicoureteral reflux (VUR), and small kidneys, that may result in chronic kidney disease as well as recurrent urinary tract infections (UTIs). Surgical treatment of VUR is not effective. Most individuals also have additional autonomic features, most commonly impaired pupillary reflex and sometimes orthostatic hypotension.",
"entity_name": "CHRNA3",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:03:05.643298+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Five individuals from three unrelated families.; to: Five individuals from three unrelated families.\r\n\r\nOnset is in utero or early childhood.\r\n\r\nAffected individuals have impaired neuronal bladder and ureteral innervation causing coordination defects that result in secondary structural defects of the renal system, including hydronephrosis, vesicoureteral reflux (VUR), and small kidneys, that may result in chronic kidney disease as well as recurrent urinary tract infections (UTIs). Surgical treatment of VUR is not effective. Most individuals also have additional autonomic features, most commonly impaired pupillary reflex and sometimes orthostatic hypotension.",
"entity_name": "CHRNA3",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:02:28.697298+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31708116; Phenotypes: Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRNA3",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:18:57.432755+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZMPSTE24 as ready",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:18:57.422576+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmpste24 has been classified as Green List (High Evidence).",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:18:52.837472+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZMPSTE24 were changed from MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210; MONDO:0010143",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:18:40.516745+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZMPSTE24 were set to ",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:17:15.512556+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD8 as ready",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:17:15.496219+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd8 has been classified as Green List (High Evidence).",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:17:01.587861+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD8 were changed from to {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:16:31.011766+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD8 were set to ",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:16:05.794050+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:15:32.249238+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31980904; Phenotypes: {Autism, susceptibility to, 18} 615032, CHD8-related neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:14:21.254943+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD8 as ready",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:14:21.245460+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd8 has been classified as Green List (High Evidence).",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:14:13.991044+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD8 were changed from to {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:13:56.184582+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD8 were set to ",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:13:37.538201+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:13:17.150706+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHD8 as Amber List (moderate evidence)",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:13:17.139475+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:13:05.947068+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Congenital anomalies are not a prominent feature of this neurodevelopmental disorder.; to: Congenital anomalies are not a prominent feature of this neurodevelopmental disorder. Macrocephaly reported of prenatal onset.",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:12:51.326333+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CHD8: Changed rating: AMBER",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:12:33.262942+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31980904; Phenotypes: {Autism, susceptibility to, 18} 615032, CHD8-related neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:10:11.457132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHMP1A as ready",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:10:11.446141+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chmp1a has been classified as Green List (High Evidence).",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:10:06.099172+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHMP1A were set to ",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:09:54.748521+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHMP1A as Green List (high evidence)",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:09:54.738672+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chmp1a has been classified as Green List (High Evidence).",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:09:17.660307+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD8 as ready",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:09:17.648062+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd8 has been classified as Red List (Low Evidence).",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:09:13.897662+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD8 were changed from AUTISM to {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:09:03.780680+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD8 were set to ",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:08:54.056492+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:08:44.349621+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHD8 as Red List (low evidence)",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:08:44.340443+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd8 has been classified as Red List (Low Evidence).",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:08:31.564204+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD8: Rating: RED; Mode of pathogenicity: None; Publications: 31980904; Phenotypes: {Autism, susceptibility to, 18} 615032, CHD8-related neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:06:21.641141+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD3 as ready",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:06:21.630441+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:06:17.725526+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD3 were changed from Apraxia of speech to Snijders Blok-Campeau syndrome, MIM#618205",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:06:05.685293+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD3 were set to ",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:05:47.297654+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:05:34.968143+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 35 individuals from 33 unrelated families reported with heterozygous variants in this gene. \nSources: Expert list; to: 35 individuals from 33 unrelated families reported with heterozygous variants in this gene.\r\n\r\nMacrocephaly in most individuals, otherwise no significant association with congenital anomalies.\r\nSources: Expert list",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:05:09.642372+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CHD3: Changed rating: AMBER",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:04:10.845528+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFL2 as ready",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:04:10.833204+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfl2 has been classified as Red List (Low Evidence).",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:04:03.191512+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFL2 were set to ",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:03:51.249058+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFL2 as Red List (low evidence)",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:03:51.239101+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfl2 has been classified as Red List (Low Evidence).",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:03:39.098388+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFL2: Rating: RED; Mode of pathogenicity: None; Publications: 17160903, 22560515, 32697999, 29457652, 24610938; Phenotypes: Nemaline myopathy 7, autosomal recessive, MIM# 610687; Mode of inheritance: None",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:01:36.443472+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CERS3 as ready",
"entity_name": "CERS3",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:01:36.431286+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cers3 has been classified as Red List (Low Evidence).",
"entity_name": "CERS3",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:01:31.783410+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CERS3 were changed from Ichthyosis, congenital, autosomal recessive 9, 615023 to Ichthyosis, congenital, autosomal recessive 9, MIM# 615023",
"entity_name": "CERS3",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:01:12.721286+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CERS3 were set to ",
"entity_name": "CERS3",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:01:01.001100+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CERS3 as Red List (low evidence)",
"entity_name": "CERS3",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:01:00.989118+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cers3 has been classified as Red List (Low Evidence).",
"entity_name": "CERS3",
"entity_type": "gene"
},
{
"created": "2021-12-10T17:00:47.953559+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CERS3: Rating: RED; Mode of pathogenicity: None; Publications: 23754960, 23549421, 31168818, 30578701; Phenotypes: Ichthyosis, congenital, autosomal recessive 9, MIM# 615023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CERS3",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:18:34.398606+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP63 as ready",
"entity_name": "CEP63",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:18:34.388886+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep63 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP63",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:18:29.758969+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP63 were changed from ?Seckel syndrome 6, OMIM:614728; Seckel syndrome 6, MONDO:0013871 to Seckel syndrome 6, OMIM:614728; Seckel syndrome 6, MONDO:0013871",
"entity_name": "CEP63",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:18:11.757573+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP63 were set to ",
"entity_name": "CEP63",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:17:25.899736+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP55 as ready",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:17:25.890347+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep55 has been classified as Green List (High Evidence).",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:17:19.640101+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP55 were set to 28295209; 28264986; 30622327",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:17:03.230347+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP55 as Green List (high evidence)",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:17:03.219513+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep55 has been classified as Green List (High Evidence).",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:16:08.763478+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP135 as ready",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:16:08.753427+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep135 has been classified as Red List (Low Evidence).",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:16:05.574557+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP135 were changed from to Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:12:53.393593+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP135 were set to ",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:09:46.894625+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP135 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:07:20.716131+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP135 as Red List (low evidence)",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:07:20.704951+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep135 has been classified as Red List (Low Evidence).",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:06:36.938953+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP135: Rating: RED; Mode of pathogenicity: None; Publications: 30214071, 22521416, 26657937; Phenotypes: Microcephalic primordial dwarfism, Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:05:01.410535+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP135 as ready",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:05:01.396906+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep135 has been classified as Green List (High Evidence).",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:04:57.491213+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP135 were changed from Microcephaly 8, primary, autosomal recessive, OMIM:614673; Microcephaly 8, primary, autosomal recessive, MONDO:0013849 to Microcephaly 8, primary, autosomal recessive, OMIM:614673; Microcephaly 8, primary, autosomal recessive, MONDO:0013849; Microcephalic primordial dwarfism",
"entity_name": "CEP135",
"entity_type": "gene"
}
]
}