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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1218",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1216",
"results": [
{
"created": "2021-09-06T16:08:30.747520+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifih1 has been classified as Green List (High Evidence).",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2021-09-06T16:08:24.531054+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFIH1 as Green List (high evidence)",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2021-09-06T16:08:24.522000+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifih1 has been classified as Green List (High Evidence).",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2021-09-06T16:04:45.796320+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9088",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34185153; Phenotypes: Inflammatory Bowel Disease; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2021-09-06T16:03:55.890898+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.58",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "gene: IFIH1 was added\ngene: IFIH1 was added to Inflammatory bowel disease. Sources: Literature\nMode of inheritance for gene: IFIH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: IFIH1 were set to 34185153\nPhenotypes for gene: IFIH1 were set to Inflammatory Bowel Disease\nPenetrance for gene: IFIH1 were set to Incomplete\nReview for gene: IFIH1 was set to GREEN\nAdded comment: Rare, likely loss-of-functions IFIH1 variants identified in eight patients with Very Early Onset Inflammatory Bowel Disease (VEOIBD) with VEOIBD from a combined cohort of 42 children. One homozygous truncating variant in a neonate from a consanguineous family, seven carriers of LoF variants (three of whom also have a second hypomorphic missense variant). Luciferase reporter assays employed to assess MDA5 activity (encoded by IFIH1). In three cases, the functional studies demonstrated that the second missense variant either did not affect protein function or was in cis with the LoF variant. \nSources: Literature",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:56:59.622141+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF8 as ready",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:56:59.611659+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf8 has been classified as Green List (High Evidence).",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:56:48.492371+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF8 were changed from to Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702; Femoral hypoplasia",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:56:17.905386+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGF8 were set to ",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:55:57.245295+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGF8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:55:36.487406+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.77",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34185153; Phenotypes: Inflammatory Bowel Disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:55:35.158061+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: FGF8.",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:55:22.109952+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:54:54.589038+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.286",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: UBE2U was added\ngene: UBE2U was added to Cataract. Sources: Literature\nMode of inheritance for gene: UBE2U was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBE2U were set to PMID: 33776059\nPhenotypes for gene: UBE2U were set to Retinoschisis; cataracts; learning disabilities; developmental delay\nPenetrance for gene: UBE2U were set to Complete\nReview for gene: UBE2U was set to RED\ngene: UBE2U was marked as current diagnostic\nAdded comment: - one missense UBE2U variant identified in one family with five affected individuals (includes proband)\r\n- in silico analyses predicts the UBE2U variant to be damaging\r\n- no functional\r\n- another STUM missense variant identified in the same family predicted to be benign\r\n- additional clinical assessment indicated that the family shared some systemic dysmorphisms and learning disabilities similar to RIDDLE syndrome \nSources: Literature",
"entity_name": "UBE2U",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:53:13.734611+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE2U as ready",
"entity_name": "UBE2U",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:53:13.724440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2u has been classified as Red List (Low Evidence).",
"entity_name": "UBE2U",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:53:02.322257+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRICKLE2 as ready",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:53:02.295319+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prickle2 has been classified as Green List (High Evidence).",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:52:43.250692+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRICKLE2 were changed from to Neurodevelopmental disorder, global developmental delay, behavioural difficulties ± epilepsy, autistic features, and attention deficit hyperactive disorder.",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:52:21.806671+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRICKLE2 were set to ",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:52:18.086610+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4104",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: UBE2U was added\ngene: UBE2U was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: UBE2U was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBE2U were set to PMID: 33776059\nPhenotypes for gene: UBE2U were set to Retinoschisis; cataracts; learning disabilities; developmental delay\nPenetrance for gene: UBE2U were set to Complete\nReview for gene: UBE2U was set to RED\ngene: UBE2U was marked as current diagnostic\nAdded comment: - one missense UBE2U variant identified in one family with five affected individuals (includes proband)\r\n- in silico analyses predicts the UBE2U variant to be damaging\r\n- no functional\r\n- another STUM missense variant identified in the same family predicted to be benign\r\n- additional clinical assessment indicated that the family shared some systemic dysmorphisms and learning disabilities similar to RIDDLE syndrome \nSources: Literature",
"entity_name": "UBE2U",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:52:00.458723+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRICKLE2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:49:26.123244+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COPB2 as ready",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:49:26.112404+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:48:49.806228+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9082",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "reviewed gene: PRICKLE2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34092786; Phenotypes: Neurodevelopmental disorder, global developmental delay, behavioural difficulties ± epilepsy, autistic features, and attention deficit hyperactive disorder.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:48:16.444739+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9082",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - one missense UBE2U variant identified in one family with four other affected individuals (includes proband) \r\n- in silico analyses predicts the UBE2U variant to be damaging\r\n- no functional\r\n- another STUM missense variant identified in the same family predicted to be benign\r\n- additional clinical assessment indicated that the family shared some systemic dysmorphisms and learning disabilities similar to RIDDLE syndrome \nSources: Literature; to: - one missense UBE2U variant identified in one family with five affected individuals (includes proband) \r\n- in silico analyses predicts the UBE2U variant to be damaging\r\n- no functional\r\n- another STUM missense variant identified in the same family predicted to be benign\r\n- additional clinical assessment indicated that the family shared some systemic dysmorphisms and learning disabilities similar to RIDDLE syndrome \r\nSources: Literature",
"entity_name": "UBE2U",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:47:33.589132+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COPB2 as Amber List (moderate evidence)",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:47:33.579226+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:47:18.841929+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1190",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CACNA1I as ready",
"entity_name": "CACNA1I",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:47:18.832541+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1190",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cacna1i has been classified as Green List (High Evidence).",
"entity_name": "CACNA1I",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:47:12.226987+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1190",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CACNA1I as Green List (high evidence)",
"entity_name": "CACNA1I",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:47:12.215679+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1190",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cacna1i has been classified as Green List (High Evidence).",
"entity_name": "CACNA1I",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:46:52.426788+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4103",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CACNA1I as ready",
"entity_name": "CACNA1I",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:46:52.415957+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4103",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cacna1i has been classified as Green List (High Evidence).",
"entity_name": "CACNA1I",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:46:42.695115+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4103",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CACNA1I as Green List (high evidence)",
"entity_name": "CACNA1I",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:46:42.685332+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4103",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cacna1i has been classified as Green List (High Evidence).",
"entity_name": "CACNA1I",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:46:18.916936+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIK2 as ready",
"entity_name": "GRIK2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:46:18.907020+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grik2 has been classified as Green List (High Evidence).",
"entity_name": "GRIK2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:46:17.468915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBE2U as Red List (low evidence)",
"entity_name": "UBE2U",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:46:17.460014+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2u has been classified as Red List (Low Evidence).",
"entity_name": "UBE2U",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:46:08.427926+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4102",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: COPB2 was added\ngene: COPB2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: COPB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: COPB2 were set to PMID: 34450031\nPhenotypes for gene: COPB2 were set to Osteoporosis and developmental delay\nReview for gene: COPB2 was set to AMBER\nAdded comment: Loss-of-function variants in COPB2 (MIM: 606990), a component of the COPI coatomer complex, in six individuals from five unrelated families presenting with a clinical spectrum of osteoporosis or os- teopenia, with or without fractures, and developmental delay of variable severity. A hypomorphic, homozygous missense variant in COPB2 was previously reported in two siblings with microcephaly, spasticity, and develop- mental delay (MIM: 617800) in whom we also here identified low bone mass. Data demonstrate that pathogenic variants in COPB2 lead to early onset osteoporosis and variable developmental delay and that COPB2 and the COPI complex are essential regulators of skeletal homeostasis\r\n\r\n3 frameshift (2 de novo, 1 not maternal), 1 x splice (de novo), 2 missense (homozygous). \nSources: Literature",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:45:16.561773+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRIK2 as Green List (high evidence)",
"entity_name": "GRIK2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:45:16.552474+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grik2 has been classified as Green List (High Evidence).",
"entity_name": "GRIK2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:45:02.756222+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9081",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: FGF8: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34433009; Phenotypes: Femoral hypoplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:45:02.082143+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9081",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: LRP1 as ready",
"entity_name": "LRP1",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:45:02.070083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9081",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: lrp1 has been classified as Red List (Low Evidence).",
"entity_name": "LRP1",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:44:59.835606+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF668 as ready",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:44:59.826534+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf668 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:44:51.473936+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRIK2 as Green List (high evidence)",
"entity_name": "GRIK2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:44:51.464283+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grik2 has been classified as Green List (High Evidence).",
"entity_name": "GRIK2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:44:31.157299+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9081",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: LRP1 as Red List (low evidence)",
"entity_name": "LRP1",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:44:31.151860+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9081",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Two papers without related phenotypes and little overall evidence for gene disease association.",
"entity_name": "LRP1",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:44:31.100382+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9081",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: lrp1 has been classified as Red List (Low Evidence).",
"entity_name": "LRP1",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:44:00.354320+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF668 as Amber List (moderate evidence)",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:44:00.343161+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf668 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:42:32.818702+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COPB2 were changed from Microcephaly 19, primary, autosomal recessive, MIM# 617800 to Microcephaly 19, primary, autosomal recessive, MIM# 617800; Osteoporosis and developmental delay",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:42:02.410281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COPB2 were set to 29036432",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:41:40.573303+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COPB2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:40:36.180808+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1187",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "gene: CACNA1I was added\ngene: CACNA1I was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CACNA1I was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1I were set to 33704440\nPhenotypes for gene: CACNA1I were set to Neurodevelopmental disorder\nMode of pathogenicity for gene: CACNA1I was set to Other\nReview for gene: CACNA1I was set to GREEN\nAdded comment: 4 different missense variants identified and shown to result in a gain of function.\r\n\r\n2 individuals with de novo variants (a 3rd also suspected de novo but their father was unavailable for testing) - these patients all had severe neurodevelopmental disorders, involving severe global developmental delay, absence of speech, gross motor delay, muscular hypotonia, early-onset seizures, cortical visual impairment, and feeding difficulties. Variable clinical features include various brain malformations, startle response or seizures, postnatal growth retardation, gastroesophageal reflux, and gastrostomy.\r\n\r\n1 family had three affected individuals - variable cognitive impairment in all, involving borderline intellectual functioning or mild or moderate intellectual disability as main clinical feature, with late-onset seizures in the mother and speech retardation in one of the children. This variant had a milder functional effect than the variants in sporadic cases. \nSources: Literature",
"entity_name": "CACNA1I",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:39:33.529543+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COPB2 as Green List (high evidence)",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:39:33.517445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copb2 has been classified as Green List (High Evidence).",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:39:27.270983+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4102",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "gene: CACNA1I was added\ngene: CACNA1I was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CACNA1I was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1I were set to 33704440\nPhenotypes for gene: CACNA1I were set to Neurodevelopmental disorder\nMode of pathogenicity for gene: CACNA1I was set to Other\nReview for gene: CACNA1I was set to GREEN\nAdded comment: 4 different missense variants identified and shown to result in a gain of function.\r\n\r\n2 individuals with de novo variants (a 3rd also suspected de novo but their father was unavailable for testing) - these patients all had severe neurodevelopmental disorders, involving severe global developmental delay, absence of speech, gross motor delay, muscular hypotonia, early-onset seizures, cortical visual impairment, and feeding difficulties. Variable clinical features include various brain malformations, startle response or seizures, postnatal growth retardation, gastroesophageal reflux, and gastrostomy.\r\n\r\n1 family had three affected individuals - variable cognitive impairment in all, involving borderline intellectual functioning or mild or moderate intellectual disability as main clinical feature, with late-onset seizures in the mother and speech retardation in one of the children. This variant had a milder functional effect than the variants in sporadic cases. \nSources: Literature",
"entity_name": "CACNA1I",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:38:13.858373+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9076",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CACNA1I as ready",
"entity_name": "CACNA1I",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:38:13.846970+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9076",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cacna1i has been classified as Green List (High Evidence).",
"entity_name": "CACNA1I",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:37:51.359943+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1187",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "gene: GRIK2 was added\ngene: GRIK2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GRIK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GRIK2 were set to 34375587; 17847003; 25039795\nPhenotypes for gene: GRIK2 were set to Mental retardation, autosomal recessive, 6 MIM# 611092; nonsyndromic neurodevelopmental disorder (NDD)\nReview for gene: GRIK2 was set to GREEN\nAdded comment: Over 10 individuals with variants in GRIK2; Bi-allelic and mono-allelic; loss of function\r\n\r\n2 (sibs) with bi-allelic truncating variants and 1 family with bi-allelic deletion (removing exons 7 and 8).\r\n11 individuals with de novo mono-allelic missense variants\r\n(5x with the same missense variant c.1969G>A (p.Ala657Thr) all the others were near this location).\r\n\r\nAssociated with nonsyndromic neurodevelopmental disorder (NDD) with intellectual disability and developmental delay as core features with 30-50% individuals experiencing seizures. \nSources: Literature",
"entity_name": "GRIK2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:37:37.432689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9076",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CACNA1I as Green List (high evidence)",
"entity_name": "CACNA1I",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:37:37.422356+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9076",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cacna1i has been classified as Green List (High Evidence).",
"entity_name": "CACNA1I",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:36:59.991879+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIK2 as ready",
"entity_name": "GRIK2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:36:59.968171+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grik2 has been classified as Green List (High Evidence).",
"entity_name": "GRIK2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:36:55.507279+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIK2 were changed from to Mental retardation, autosomal recessive, 6 MIM# 611092; nonsyndromic neurodevelopmental disorder (NDD), autosomal dominant",
"entity_name": "GRIK2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:36:41.901265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9075",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: UBE2U was added\ngene: UBE2U was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: UBE2U was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBE2U were set to PMID: 33776059\nPhenotypes for gene: UBE2U were set to Retinoschisis; cataracts; learning disabilities; developmental delay\nPenetrance for gene: UBE2U were set to Complete\nReview for gene: UBE2U was set to RED\ngene: UBE2U was marked as current diagnostic\nAdded comment: - one missense UBE2U variant identified in one family with four other affected individuals (includes proband) \r\n- in silico analyses predicts the UBE2U variant to be damaging\r\n- no functional\r\n- another STUM missense variant identified in the same family predicted to be benign\r\n- additional clinical assessment indicated that the family shared some systemic dysmorphisms and learning disabilities similar to RIDDLE syndrome \nSources: Literature",
"entity_name": "UBE2U",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:36:19.647281+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIK2 were set to ",
"entity_name": "GRIK2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:35:55.029779+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.3",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: ZNF668 was added\ngene: ZNF668 was added to Growth failure. Sources: Literature\nMode of inheritance for gene: ZNF668 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF668 were set to 34313816; 26633546\nPhenotypes for gene: ZNF668 were set to DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism\nReview for gene: ZNF668 was set to AMBER\ngene: ZNF668 was marked as current diagnostic\nAdded comment: 2 consanguineous families reported with different biallelic truncating (not NMD) variants in ZNF668. Phenotypes included microcephaly, growth deficiency, severe global developmental delay, brain malformation, and distinct facial dysmorphism.\r\n\r\nImmunofluorescence indicated ZNF668 deficiency. An increased DNA damage phenotype was demonstrated in patient fibroblasts. \nSources: Literature",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:35:53.204095+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9075",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: LRP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26142438, 33776059; Phenotypes: ?Keratosis pilaris atrophicans MIM#604093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRP1",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:35:52.697084+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIK2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GRIK2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:35:26.180992+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9075",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: COPB2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34450031; Phenotypes: Osteoporosis and developmental delay; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:35:10.942593+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4099",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: GRIK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34375587, 17847003, 25039795; Phenotypes: Mental retardation, autosomal recessive, 6 MIM# 611092, nonsyndromic neurodevelopmental disorder (NDD); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GRIK2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:35:04.646661+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIK2 as ready",
"entity_name": "GRIK2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:35:04.634571+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grik2 has been classified as Green List (High Evidence).",
"entity_name": "GRIK2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:34:56.948572+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9075",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CFAP206 as ready",
"entity_name": "CFAP206",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:34:56.935563+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9075",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cfap206 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CFAP206",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:34:55.994302+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIK2 were changed from to Mental retardation, autosomal recessive, 6 MIM# 611092; Nonsyndromic neurodevelopmental disorder, autosomal dominant",
"entity_name": "GRIK2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:34:33.371308+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9074",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: CFAP206 were set to ",
"entity_name": "CFAP206",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:34:13.557765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIK2 were set to ",
"entity_name": "GRIK2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:33:53.233190+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF668 as ready",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:33:53.222499+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf668 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:33:52.510637+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIK2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GRIK2",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:33:44.120540+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9071",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CFAP206 as Amber List (moderate evidence)",
"entity_name": "CFAP206",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:33:44.111901+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9071",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cfap206 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CFAP206",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:33:31.969779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9070",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP206 were changed from Multiple morphological abnormalities of the fagella to Multiple morphological abnormalities of the flagella",
"entity_name": "CFAP206",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:33:08.560263+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF668 as Amber List (moderate evidence)",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:33:08.551105+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf668 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:32:36.586674+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF668 as ready",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:32:36.575431+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf668 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:32:09.795534+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF668 as Amber List (moderate evidence)",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:32:09.784604+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf668 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:31:57.249317+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4098",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 5 individuals from 3 consanguineous families reported with different biallelic truncating (not NMD) variants in ZNF668. Phenotypes included microcephaly, growth deficiency, severe global developmental delay, brain malformation, and distinct facial dysmorphism.\r\n\r\nImmunofluorescence indicated ZNF668 deficiency. An increased DNA damage phenotype was demonstrated in patient fibroblasts. \nSources: Literature; to: 2 consanguineous families reported with different biallelic truncating (not NMD) variants in ZNF668. Phenotypes included microcephaly, growth deficiency, severe global developmental delay, brain malformation, and distinct facial dysmorphism.\r\n\r\nImmunofluorescence indicated ZNF668 deficiency. An increased DNA damage phenotype was demonstrated in patient fibroblasts. \r\nSources: Literature",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:31:39.514886+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF668 as ready",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:31:39.505033+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf668 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2021-09-06T15:31:27.850385+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF668 as Amber List (moderate evidence)",
"entity_name": "ZNF668",
"entity_type": "gene"
}
]
}