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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1152",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1150",
"results": [
{
"created": "2021-10-29T15:58:24.952574+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MUC5B: Rating: RED; Mode of pathogenicity: None; Publications: 21506741, 21506748; Phenotypes: {Pulmonary fibrosis, idiopathic, susceptibility to}, MIM# 178500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MUC5B",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:26:24.826795+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH18A1 as ready",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:26:24.816429+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh18a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:26:21.166359+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH18A1 were changed from SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES; CUTIS LAXA, AUTOSOMAL DOMINANT 3 to Cutis laxa, autosomal dominant 3, MIM# 616603; Cutis laxa, autosomal recessive, type IIIA, MIM# 219150",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:26:08.457625+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH18A1 were set to ",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:25:46.025294+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDH18A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:25:31.682852+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALDH18A1: Changed publications: 30071989, 26320891, 24913064, 18478038, 21739576, 22411858, 28228640",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:25:09.885428+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal dominant 3, MIM# 616603, Cutis laxa, autosomal recessive, type IIIA, MIM# 219150; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:22:18.293302+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKT3 as ready",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:22:18.283929+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt3 has been classified as Green List (High Evidence).",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:22:15.715476+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:21:58.182891+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AKT3 were set to ",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:21:30.121525+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:21:00.091280+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28969385; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:19:52.213065+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKT3 as ready",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:19:52.203251+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt3 has been classified as Green List (High Evidence).",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:19:50.132788+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:19:28.316749+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AKT3 were set to ",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:19:06.846177+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:18:31.353482+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28969385; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:17:28.305391+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKT3 as ready",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:17:28.294206+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt3 has been classified as Green List (High Evidence).",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:17:23.637730+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKT3 were changed from HEMIMEGALENCEPHALY AKT3 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:17:11.191185+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AKT3 were set to ",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:16:09.871996+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AKT1 were set to 33030203l23246288; 21793738",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:15:54.231442+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKT1 as ready",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:15:54.218788+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt1 has been classified as Green List (High Evidence).",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:15:50.266856+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKT1 were changed from PROTEUS SYNDROME to Cowden syndrome 6, MIM#615109; Proteus syndrome, somatic, MIM# 176920",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:15:35.519278+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AKT1 were set to 33030203",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:15:23.689565+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: AKT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:15:06.685540+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AKT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:14:52.356215+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23246288, 21793738; Phenotypes: Cowden syndrome 6, MIM#615109, Proteus syndrome, somatic, MIM# 176920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:11:47.180925+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHI1 as ready",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:11:47.166256+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahi1 has been classified as Green List (High Evidence).",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:11:43.587690+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AHI1 were changed from JOUBERT SYNDROME to Joubert syndrome 3, MIM# 608629",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:11:30.413738+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AHI1 were set to ",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:10:05.962179+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHDC1 as ready",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:10:05.951942+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahdc1 has been classified as Green List (High Evidence).",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:10:02.053857+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AHDC1 were changed from to Xia-Gibbs syndrome, MIM# 615829; AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:09:34.254609+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AHDC1 were set to ",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:09:01.385285+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AHDC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:08:25.205849+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AHDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24791903, 27148574, 30152016; Phenotypes: Xia-Gibbs syndrome, MIM# 615829, AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:07:49.033427+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHDC1 as ready",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:07:49.022708+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahdc1 has been classified as Green List (High Evidence).",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:07:41.251599+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AHDC1 were changed from to Xia-Gibbs syndrome, MIM# 615829; AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:07:22.391901+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AHDC1 were set to ",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:07:04.343488+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AHDC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:06:44.884582+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AHDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24791903, 27148574, 30152016; Phenotypes: Xia-Gibbs syndrome, MIM# 615829, AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:05:58.886998+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AHDC1 were changed from Xia-Gibbs syndrome, MIM# 615829 to Xia-Gibbs syndrome, MIM# 615829; AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:04:38.136089+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHDC1 as ready",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:04:38.126337+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahdc1 has been classified as Green List (High Evidence).",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:04:33.335570+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AHDC1 were changed from XIA-GIBBS SYNDROME to Xia-Gibbs syndrome, MIM# 615829",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:04:22.439532+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AHDC1 were set to ",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:04:10.506133+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AHDC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-29T09:03:56.381643+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AHDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24791903, 27148574, 30152016; Phenotypes: Xia-Gibbs syndrome, MIM# 615829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:58:35.158019+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGTR1 as ready",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:58:35.143095+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agtr1 has been classified as Green List (High Evidence).",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:58:29.919702+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGTR1 as Green List (high evidence)",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:58:29.894726+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agtr1 has been classified as Green List (High Evidence).",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:58:18.326029+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AGTR1: Changed rating: GREEN",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:57:57.190049+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGTR1 was added\ngene: AGTR1 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGTR1 were set to 16116425\nPhenotypes for gene: AGTR1 were set to Renal tubular dysgenesis, MIM# 267430\nAdded comment: Three unrelated families reported. Severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. \nSources: Expert Review",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:57:22.019013+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGTR1 as ready",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:57:22.009462+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agtr1 has been classified as Green List (High Evidence).",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:56:47.722633+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGTR1 were changed from to Renal tubular dysgenesis, MIM# 267430",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:56:28.182445+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGTR1 were set to ",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:56:04.164258+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AGTR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:55:43.155841+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGTR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:46:20.674942+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGT as ready",
"entity_name": "AGT",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:46:20.663710+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agt has been classified as Green List (High Evidence).",
"entity_name": "AGT",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:46:15.239609+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGT as Green List (high evidence)",
"entity_name": "AGT",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:46:15.229210+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agt has been classified as Green List (High Evidence).",
"entity_name": "AGT",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:46:03.645188+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGT was added\ngene: AGT was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGT were set to 16116425; 34234805; 33163725\nPhenotypes for gene: AGT were set to Renal tubular dysgenesis, MIM# 267430\nReview for gene: AGT was set to GREEN\nAdded comment: Well established gene-disease association, more than 10 unrelated families reported. Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. \nSources: Expert Review",
"entity_name": "AGT",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:44:48.513335+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGT as ready",
"entity_name": "AGT",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:44:48.503109+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agt has been classified as Green List (High Evidence).",
"entity_name": "AGT",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:44:39.783899+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGT were changed from to Renal tubular dysgenesis, MIM# 267430",
"entity_name": "AGT",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:44:19.998929+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGT were set to ",
"entity_name": "AGT",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:43:58.391775+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGT",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:43:39.200733+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 34234805, 33163725; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGT",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:08:22.195567+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PANK4 were changed from Congenital posterior cataract to Cataract 49, MIM# 619593; Congenital posterior cataract",
"entity_name": "PANK4",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:08:04.253071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PANK4: Changed phenotypes: Cataract 49, MIM# 619593, Congenital posterior cataract",
"entity_name": "PANK4",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:07:48.067386+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PANK4 were changed from Congenital posterior cataract to Cataract 49, MIM# 619593; Congenital posterior cataract",
"entity_name": "PANK4",
"entity_type": "gene"
},
{
"created": "2021-10-29T08:07:11.012456+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PANK4: Changed phenotypes: Cataract 49, MIM# 619593, Congenital posterior cataract",
"entity_name": "PANK4",
"entity_type": "gene"
},
{
"created": "2021-10-29T07:51:00.592916+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGK as ready",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2021-10-29T07:51:00.577145+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agk has been classified as Green List (High Evidence).",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2021-10-29T07:50:56.873668+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGK were changed from SENGERS SYNDROME to Sengers syndrome, MIM#212350",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2021-10-29T07:50:40.860633+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Cognition is reported to be normal in this mitochondrial condition.; to: Severe perinatal disorder, including HCM.",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2021-10-29T07:50:23.231214+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AGK: Changed rating: GREEN",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2021-10-29T07:49:28.460601+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AFF4 as ready",
"entity_name": "AFF4",
"entity_type": "gene"
},
{
"created": "2021-10-29T07:49:28.451057+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aff4 has been classified as Green List (High Evidence).",
"entity_name": "AFF4",
"entity_type": "gene"
},
{
"created": "2021-10-29T07:49:24.646638+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AFF4 were changed from CORNELIA DE LANGE-LIKE SYNDROME to CHOPS syndrome, MIM#616368; MONDO:0014609",
"entity_name": "AFF4",
"entity_type": "gene"
},
{
"created": "2021-10-29T07:49:12.172072+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AFF4 were set to ",
"entity_name": "AFF4",
"entity_type": "gene"
},
{
"created": "2021-10-29T07:48:59.718755+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: AFF4 was changed from to Other",
"entity_name": "AFF4",
"entity_type": "gene"
},
{
"created": "2021-10-29T07:48:49.439150+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AFF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AFF4",
"entity_type": "gene"
},
{
"created": "2021-10-29T07:46:55.699057+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADNP as ready",
"entity_name": "ADNP",
"entity_type": "gene"
},
{
"created": "2021-10-29T07:46:55.687062+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adnp has been classified as Green List (High Evidence).",
"entity_name": "ADNP",
"entity_type": "gene"
},
{
"created": "2021-10-29T07:46:51.496394+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADNP were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 to Helsmoortel-van der Aa syndrome MIM#615873; MONDO:0014379",
"entity_name": "ADNP",
"entity_type": "gene"
},
{
"created": "2021-10-29T07:46:35.135839+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADNP were set to ",
"entity_name": "ADNP",
"entity_type": "gene"
},
{
"created": "2021-10-29T07:46:22.778665+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADNP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADNP",
"entity_type": "gene"
},
{
"created": "2021-10-29T07:46:01.746813+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADGRG6 as ready",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2021-10-29T07:46:01.695241+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrg6 has been classified as Green List (High Evidence).",
"entity_name": "ADGRG6",
"entity_type": "gene"
}
]
}