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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=858",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=856",
"results": [
{
"created": "2022-05-05T11:18:03.928128+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.5",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: EFEMP1 as Green List (high evidence)",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:18:03.917391+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.5",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: efemp1 has been classified as Green List (High Evidence).",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:18:00.571563+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.89",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: MBD4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:35460607; Phenotypes: Adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MBD4",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:17:44.942801+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.5",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: EFEMP1 as ready",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:17:44.929615+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.5",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: efemp1 has been classified as Green List (High Evidence).",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:17:38.030886+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.5",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: EFEMP1 as Green List (high evidence)",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:17:38.013080+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.5",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: efemp1 has been classified as Green List (High Evidence).",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:17:12.082964+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPFIBP1 was added\ngene: PPFIBP1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPFIBP1 were set to https://www.medrxiv.org/content/10.1101/2022.04.04.22273309v1\nPhenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder, MONDO:0700092\nReview for gene: PPFIBP1 was set to GREEN\nAdded comment: 16 individuals from 10 unrelated families reported with moderate to profound developmental delay, often refractory early-onset epilepsy and progressive microcephaly. Drosophila model. \nSources: Expert Review",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:16:41.360147+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.4",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: EFEMP1 was added\ngene: EFEMP1 was added to Glaucoma congenital. Sources: Literature\nMode of inheritance for gene: EFEMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EFEMP1 were set to 34923728\nPhenotypes for gene: EFEMP1 were set to Juvenile-onset open angle glaucoma, MONDO:0020367, EFEMP1-related\nPenetrance for gene: EFEMP1 were set to unknown\nReview for gene: EFEMP1 was set to GREEN\nAdded comment: Three unrelated Filipino families, total of 34 individuals. Variants segregate with disease. \r\nDisease onset average age of 16 years. \r\nFunctional studies: transfected cells exhibit protein aggregation \nSources: Literature",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:14:34.179250+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13780",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: STX1A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:14:07.576941+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13779",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: STX1A as Green List (high evidence)",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:14:07.567255+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13779",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: stx1a has been classified as Green List (High Evidence).",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:13:53.243431+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13778",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: STX1A was added\ngene: STX1A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: STX1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nReview for gene: STX1A was set to GREEN\ngene: STX1A was marked as current diagnostic\nAdded comment: Preprint:\r\n8 individuals - 2x hom (related) and 6x hets (all de novo except 1x unknown)\r\n\r\n7 unrelated since the 2 siblings share similar features:\r\n7/7 ID, 7/7 motor delay, 4/7 epilepsy, 5/7 neonatal hypotonia 2/7 regression, 2/7 ASD excluding 1 with features but did not meet criteria \nSources: Literature",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:58:24.887428+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HYDIN as ready",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:58:24.876585+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hydin has been classified as Green List (High Evidence).",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:58:16.597697+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HYDIN were changed from to Ciliary dyskinesia, primary, 5 (MIM#608647)",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:57:55.442702+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HYDIN were set to ",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:57:30.421602+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HYDIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:57:09.585295+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HYDIN: Rating: GREEN; Mode of pathogenicity: None; Publications: 23022101, 23849777, 28441829, 31116566; Phenotypes: Ciliary dyskinesia, primary, 5 (MIM#608647); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:55:34.441473+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HTRA2 as ready",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:55:34.424973+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: htra2 has been classified as Green List (High Evidence).",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:55:25.530311+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HTRA2 were changed from to 3-methylglutaconic aciduria, type VIII, MIM# 617248",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:55:03.070652+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HTRA2 were set to ",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:54:41.829416+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HTRA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:54:18.162928+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27208207, 27696117; Phenotypes: 3-methylglutaconic aciduria, type VIII, MIM# 617248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:52:40.102447+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HTR1A as ready",
"entity_name": "HTR1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:52:40.087563+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: htr1a has been classified as Red List (Low Evidence).",
"entity_name": "HTR1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:52:31.486795+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HTR1A were changed from to Periodic fever, menstrual cycle dependent, MIM# 614674",
"entity_name": "HTR1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:52:06.580779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HTR1A were set to ",
"entity_name": "HTR1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:51:46.390367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HTR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HTR1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:51:28.179028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HTR1A as Red List (low evidence)",
"entity_name": "HTR1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:51:28.166570+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: htr1a has been classified as Red List (Low Evidence).",
"entity_name": "HTR1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:51:09.867315+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HTR1A: Rating: RED; Mode of pathogenicity: None; Publications: 21990073; Phenotypes: Periodic fever, menstrual cycle dependent, MIM# 614674; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HTR1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:44:00.472149+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSPD1 as ready",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:44:00.457901+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hspd1 has been classified as Green List (High Evidence).",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:43:52.118715+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSPD1 were changed from to Leukodystrophy, hypomyelinating, 4, MIM# 612233; Spastic paraplegia 13, autosomal dominant, MIM# 605280",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:43:31.745135+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSPD1 were set to ",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:43:12.341840+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSPD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:42:50.394550+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18571143, 27405012, 32532876, 28377887, 27405012, 11898127, 17420924; Phenotypes: Leukodystrophy, hypomyelinating, 4, MIM# 612233, Spastic paraplegia 13, autosomal dominant, MIM# 605280; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:39:37.265320+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD3B7 as ready",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:39:37.252944+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd3b7 has been classified as Green List (High Evidence).",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:39:28.719905+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSD3B7 were changed from to Bile acid synthesis defect, congenital, 1 MIM#607765; Disorders of bile acid biosynthesis",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:39:00.906998+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSD3B7 were set to ",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:38:39.774761+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSD3B7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:31:14.231438+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD3B2 as ready",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:31:14.218762+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd3b2 has been classified as Green List (High Evidence).",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:31:10.759894+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSD3B2 were changed from to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:30:35.136545+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSD3B2 were set to ",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:30:07.694176+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSD3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:29:37.651533+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSD3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1363812, 18252794; Phenotypes: Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:27:39.537843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD3B2 as ready",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:27:39.526133+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd3b2 has been classified as Green List (High Evidence).",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:27:14.264429+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSD3B2 were changed from to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:26:48.670834+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSD3B2 were set to ",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:26:19.075932+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSD3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2022-05-05T10:25:57.553280+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSD3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1363812, 18252794; Phenotypes: Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:50:41.226306+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13758",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: only 1 probed reported thus far; to: only 1 proband reported thus far",
"entity_name": "CPN1",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:48:38.336369+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13758",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CUBN as ready",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:48:38.319820+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13758",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cubn has been classified as Green List (High Evidence).",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:48:11.595593+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13758",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CUBN were changed from to Imerslund-Grasbeck syndrome 1 MIM#261100 AR; [Proteinuria, chronic benign] MIM#618884",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:48:03.374672+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13757",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CUBN were set to ",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:47:53.443917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13756",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CUBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:47:35.087260+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13755",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31613795, 21903995, 31497480; Phenotypes: Imerslund-Grasbeck syndrome 1 MIM#261100 AR, [Proteinuria, chronic benign] MIM#618884; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:45:03.561011+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13755",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CTSF as ready",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:45:03.548769+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13755",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ctsf has been classified as Green List (High Evidence).",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:44:52.121190+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13755",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CTSF were set to ",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:44:48.377576+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13755",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CTSF were changed from to Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:44:32.197678+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13754",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTSF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:44:14.910465+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13753",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CTSF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28749476, 27668283, 27524508; Phenotypes: Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:42:40.315607+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13753",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CTSC as ready",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:42:40.305098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13753",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ctsc has been classified as Green List (High Evidence).",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:42:32.722525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13753",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CTSC were changed from to Haim-Munk syndrome MIM#245010; Papillon-Lefevre syndrome MIM#245000; Periodontitis 1, juvenile MIM#170650",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:42:12.463714+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13752",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CTSC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11106356, 32601924, 10581027, 14974080, 10662808; Phenotypes: Haim-Munk syndrome MIM#245010, Papillon-Lefevre syndrome MIM#245000, Periodontitis 1, juvenile MIM#170650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:41:05.471635+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13752",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CTSC were set to ",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:40:49.424907+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13751",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTSC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:31:03.733959+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13750",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CTNS as ready",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:31:03.720656+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13750",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ctns has been classified as Green List (High Evidence).",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:30:53.678270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13750",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CTNS were changed from to Cystinosis, atypical nephropathic MIM#219800; Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900; Cystinosis, nephropathic MIM#219800; Cystinosis, ocular nonnephropathic MIM#219750",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:30:36.800088+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13749",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CTNS were set to ",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:30:29.903147+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13748",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:30:07.332925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13747",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: CTNS: Changed rating: GREEN",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:29:51.618303+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13747",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:29:44.395632+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13747",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "commented on gene: CTNS: Established association.\r\n\r\nGenereviews PMID:20301574",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:29:44.256396+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13747",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CTNS: Rating: ; Mode of pathogenicity: None; Publications: 20301574, 9537412, 31068690; Phenotypes: Cystinosis, atypical nephropathic MIM#219800, Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900, Cystinosis, nephropathic MIM#219800, Cystinosis, ocular nonnephropathic MIM#219750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:24:35.706745+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13747",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CTNNA1 as ready",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:24:35.696621+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13747",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ctnna1 has been classified as Green List (High Evidence).",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:24:28.683789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13747",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CTNNA1 were changed from to Macular dystrophy, butterfly-shaped pigmentary, 2, MIM# 608970; Familial exudative vitreoretinopathy MONDO#0019516, CTNNA1-related",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:24:16.149364+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13746",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CTNNA1 were set to ",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:24:10.775402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13746",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTNNA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:23:50.553640+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13745",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CTNNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26691986, 33497368; Phenotypes: Macular dystrophy, butterfly-shaped pigmentary, 2, MIM# 608970, Familial exudative vitreoretinopathy MONDO#0019516, CTNNA1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:20:35.089655+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13745",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CTHRC1 as ready",
"entity_name": "CTHRC1",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:20:35.075423+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13745",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cthrc1 has been classified as Red List (Low Evidence).",
"entity_name": "CTHRC1",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:20:18.878336+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13745",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CTHRC1 were changed from to Barrett esophagus/esophageal adenocarcinoma MIM#614266",
"entity_name": "CTHRC1",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:20:15.019104+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13745",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CTHRC1 were set to ",
"entity_name": "CTHRC1",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:19:53.928629+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13744",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CTHRC1 as Red List (low evidence)",
"entity_name": "CTHRC1",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:19:53.915650+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13744",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cthrc1 has been classified as Red List (Low Evidence).",
"entity_name": "CTHRC1",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:19:27.849392+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13743",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CTHRC1: Rating: RED; Mode of pathogenicity: None; Publications: 21791690; Phenotypes: Barrett esophagus/esophageal adenocarcinoma MIM#614266; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "CTHRC1",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:14:04.641717+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13743",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CSRP3 as ready",
"entity_name": "CSRP3",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:14:04.623914+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13743",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: csrp3 has been classified as Green List (High Evidence).",
"entity_name": "CSRP3",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:13:57.638904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13743",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CSRP3 were changed from to hypertrophic cardiomyopathy12 MIM#612124; dilated cardiomyopathy 1M MIM#607482",
"entity_name": "CSRP3",
"entity_type": "gene"
}
]
}