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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1018",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1016",
"results": [
{
"created": "2022-01-28T15:50:09.322161+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2892",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: LAMB2 was added\ngene: LAMB2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAMB2 were set to 16450351\nPhenotypes for gene: LAMB2 were set to Pierson syndrome-MIM#609049; Nephrotic syndrome, type 5, with or without ocular abnormalities-MIM#614199\nReview for gene: LAMB2 was set to AMBER\nAdded comment: Biallelic variants associated with Pierson syndrome. Phenotypic features include congenital nephrotic syndrome, ocular anomalies including microcoria. Most affected individuals die early from renal disease with survivors tending to have ID/visual loss.\r\n\r\nPrenatal features reported in 1 consanguineous Turkish family with 4 pregnancies affected by Pierson syndrome. Antenatal ultrasound features noted include:\r\n- 2/4 homogenous hyperechogenicity of the kidneys similar to bone tissue\r\n- 2/4 enlargement of fetal kidneys\r\n- 2/4 bilateral pyelectasis\r\n- 1/4 oligohydramnios --> anhydramnios\r\n- 1/4 hydrops\r\n- 1/4 ancencephaly\r\n\r\nAll 4 fetuses had ultrasound anomalies. Anencephaly seen in the 4th pregnancy noted at 11 weeks resulting in MTOP. Homozygosity for LAMB2 variant confirmed. PM showed that kidneys were appropriate for gestational age. I could not find another case report of anencephaly with Pierson syndrome, this may be an incidental finding. \nSources: Literature",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:42:19.837919+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HS2ST1 as ready",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:42:19.822228+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hs2st1 has been classified as Green List (High Evidence).",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:42:12.270315+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HS2ST1 as Green List (high evidence)",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:42:12.261190+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hs2st1 has been classified as Green List (High Evidence).",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:41:17.018878+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLNC as ready",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:41:17.008635+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flnc has been classified as Green List (High Evidence).",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:41:08.132327+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FLNC were changed from Arthrogryposis; congenital myopathy; Cardiomyopathy, familial restrictive 5 - MIM #617047; Cardiomyopathy, familial hypertrophic, 26 -MIM# 617047; Myopathy, distal, 4 - #614065; Myopathy, myofibrillar, 5 - MIM#609524 to Arthrogryposis; congenital myopathy; Myopathy, myofibrillar, 5 - MIM#609524",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:40:31.769834+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLNC as Green List (high evidence)",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:40:31.759667+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flnc has been classified as Green List (High Evidence).",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:39:49.125658+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MKS1 were set to ",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:37:09.304542+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MKKS were set to ",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:36:28.855490+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MGP as ready",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:36:28.842682+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mgp has been classified as Green List (High Evidence).",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:36:19.298024+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MGP were changed from to Keutel syndrome, MIM #245150",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:35:59.353535+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MGP were set to ",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:35:41.788149+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MGP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:35:23.278461+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916809, 15810001, 33996798; Phenotypes: Keutel syndrome, MIM #245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:31:32.176205+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFRP were changed from MICROPHTHALMIA ISOLATED TYPE 5; NANOPHTHALMOS 2 to Microphthalmia, isolated 5, MIM# 611040",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:31:21.236523+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MFRP were set to ",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:31:05.323720+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:30:38.342627+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:27:57.444192+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IARS were set to 27426735",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:27:03.023280+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIX6 as ready",
"entity_name": "SIX6",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:27:03.005569+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIX6",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:26:56.194406+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIX6 were set to ",
"entity_name": "SIX6",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:26:41.804510+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four unrelated families and a dog model.; to: Four unrelated families and a dog model. Microphthalmia in some individuals, otherwise features would not generally be detectable ante-natally.",
"entity_name": "SIX6",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:26:17.365671+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SIX6: Changed rating: AMBER",
"entity_name": "SIX6",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:25:23.999539+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHANK3 as ready",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:25:23.975003+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank3 has been classified as Red List (Low Evidence).",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:25:19.369153+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHANK3 were set to ",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:25:03.993430+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHANK3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:24:47.295857+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHANK3 as Red List (low evidence)",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:24:47.282728+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank3 has been classified as Red List (Low Evidence).",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:24:35.554903+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behaviour, and minor dysmorphic features. Well established gene-disease association, deletions are common.; to: Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behaviour, and minor dysmorphic features. Well established gene-disease association, deletions are common.\r\n\r\nClinical presentation is typically post-natal.",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:24:20.683547+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SHANK3: Changed rating: RED",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:23:03.143064+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK1 were changed from Neurodevelopmental disorder, no OMIM# to Neurodevelopmental disorder, MONDO:0700092, SHANK1-related",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:22:31.072794+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHANK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SHANK1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:22:14.341595+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK1 were changed from Autism to Neurodevelopmental disorder, MONDO:0700092, SHANK1-related",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:21:41.445314+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHANK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SHANK1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:21:21.194091+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK1 were changed from Neurodevelopmental disorder, no OMIM# to Neurodevelopmental disorder, MONDO:0700092, SHANK1-related",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:21:04.361774+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SHANK1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SHANK1-related",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:18:45.495374+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHANK1 as ready",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:18:45.482985+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank1 has been classified as Red List (Low Evidence).",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:18:41.173361+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK1 were changed from AUTISM to Neurodevelopmental disorder, MONDO:0700092, SHANK1-related",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:18:29.775470+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHANK1 were set to ",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:18:14.856603+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHANK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:18:04.067598+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHANK1 as Red List (low evidence)",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:18:04.057743+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank1 has been classified as Red List (Low Evidence).",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:17:44.442843+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHANK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SHANK1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:15:34.167742+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGSH as ready",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:15:34.156842+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgsh has been classified as Red List (Low Evidence).",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:15:28.061623+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SGSH were changed from MUCOPOLYSACCHARIDOSIS TYPE 3A to Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; MONDO:0009655",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:15:14.991713+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SGSH were set to ",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:15:02.201636+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SGSH as Red List (low evidence)",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2022-01-28T15:15:02.184182+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgsh has been classified as Red List (Low Evidence).",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:39:23.723318+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SGSH: Changed rating: RED",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:38:53.943948+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD2 as ready",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:38:53.934758+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd2 has been classified as Green List (High Evidence).",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:38:48.264033+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD2 were changed from SETD2-associated Overgrowth Syndrome to Luscan-Lumish syndrome, MIM#616831",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:38:35.613297+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD2 were set to ",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:38:22.163688+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:38:11.935836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SETD2 as Green List (high evidence)",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:38:11.925963+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd2 has been classified as Green List (High Evidence).",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:37:57.296769+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple affected individuals with macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures; to: Multiple affected individuals with macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures.\r\n\r\nChiari malformation and ventriculomegaly reported.",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:34:34.730136+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD1A as ready",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:34:34.710738+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd1a has been classified as Red List (Low Evidence).",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:34:29.437148+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD1A were changed from INTELLECTUAL DISABILITY to Epilepsy, early-onset, with or without developmental delay, MIM# 618832; Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:34:16.598247+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD1A were set to ",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:34:02.691204+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETD1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:33:49.245555+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SETD1A as Red List (low evidence)",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:33:49.234858+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd1a has been classified as Red List (Low Evidence).",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:33:36.880495+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: OMIM has assigned a second phenotype in relation to the syndromic ID cohort reported in PMID 32346159. All variants were predicted to disrupt or delete the SET catalytic domain, and LOF is the established mechanism.\r\n\r\nIn addition, there are 4 families reported with a predominantly seizure phenotype without ID, PMID 31197650. All the variants are missense and mechanism of pathogenicity is not clearly established, hence it is difficult to know whether these are two distinct conditions or part of a spectrum of severity for SETD1A-related disorders.; to: OMIM has assigned a second phenotype in relation to the syndromic ID cohort reported in PMID 32346159. All variants were predicted to disrupt or delete the SET catalytic domain, and LOF is the established mechanism.\r\n\r\nIn addition, there are 4 families reported with a predominantly seizure phenotype without ID, PMID 31197650. All the variants are missense and mechanism of pathogenicity is not clearly established, hence it is difficult to know whether these are two distinct conditions or part of a spectrum of severity for SETD1A-related disorders.\r\n\r\nPresentation of both disorders is typically post-natal.",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:33:18.337810+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SETD1A: Changed rating: RED",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:31:46.199682+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SECISBP2 as ready",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:31:46.187517+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: secisbp2 has been classified as Green List (High Evidence).",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:31:43.630160+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SECISBP2 were changed from Short stature-delayed bone age due to thyroid hormone metabolism deficiency; Selenocysteine insertion sequence binding protein 2 (SBP2) defect; Abnormal thyroid hormone metabolism; Thyroid hormone metabolism, abnormal, 609698; THYROID HORMONE METABOLISM, ABNORMAL to Thyroid hormone metabolism, abnormal, MIM# 609698",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:31:28.212278+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SECISBP2 were set to 20501692; 16228000; Diversity Selenium Functions in Health and Disease, Edited by Regina Brigelius-Flohe and Helmut Sies, Chapter 16. Mutations in SECISBP2. Erik Schoenmakers, Carla Moran, Nadia Schoenmakers and Krishna Chatterjee. CRC Press 2015. Pages 343 376. Print ISBN: 978-1-4822-5126-5. eBook ISBN: 978-1-4822-5127-2. DOI: 10.1201/b18810-23; 22247018; 24629861; 22986150; 19602558; 21084748",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:30:47.620778+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SECISBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid hormone metabolism, abnormal, MIM# 609698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:29:41.879975+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SECISBP2 as ready",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:29:41.869409+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: secisbp2 has been classified as Red List (Low Evidence).",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:29:37.254283+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SECISBP2 were changed from THYROID HORMONE METABOLISM, ABNORMAL to Thyroid hormone metabolism, abnormal, MIM# 609698",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:29:11.016797+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SECISBP2 were set to ",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:28:55.962551+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SECISBP2 as Red List (low evidence)",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:28:55.952136+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: secisbp2 has been classified as Red List (Low Evidence).",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:28:44.256852+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SECISBP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid hormone metabolism, abnormal, MIM# 609698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:27:15.795713+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC24D as ready",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:27:15.780873+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec24d has been classified as Green List (High Evidence).",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:27:12.083585+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEC24D were changed from SYNDROMIC OSTEOGENESIS IMPERFECTA to Cole-Carpenter syndrome 2, MIM# 616294",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:26:41.981140+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEC24D were set to ",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:26:27.650190+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC24D as Green List (high evidence)",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:26:27.640127+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec24d has been classified as Green List (High Evidence).",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:25:02.375485+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN3A as ready",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:25:02.352480+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn3a has been classified as Green List (High Evidence).",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:24:58.273333+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN3A were changed from Focal epilepsy to Epilepsy, familial focal, with variable foci 4, MIM# 617935; Epileptic encephalopathy, early infantile, 62, MIM# 617938; Intellectual disability; Malformations of cortical development",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:24:39.791102+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN3A were set to ",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:24:22.350885+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SCN3A was changed from to Other",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:24:03.594057+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:23:53.272750+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCN3A as Green List (high evidence)",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2022-01-28T14:23:53.259385+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn3a has been classified as Green List (High Evidence).",
"entity_name": "SCN3A",
"entity_type": "gene"
}
]
}