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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=414",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=412",
"results": [
{
"created": "2024-08-02T11:53:38.670709+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbeal2 has been classified as Green List (High Evidence).",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:53:35.624301+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NBEAL2 were changed from Immune dysregulation to Gray platelet syndrome, MIM# 139090; Immune dysregulation",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:52:55.960456+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6081",
"user_name": "Ken Lee Wan",
"item_type": "entity",
"text": "reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36324412, 39016117; Phenotypes: familial porencephaly MONDO:0020496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:52:55.936646+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NBEAL2 as Green List (high evidence)",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:52:55.917336+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbeal2 has been classified as Green List (High Evidence).",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:52:20.024687+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gray platelet syndrome, MIM# 139090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:49:31.556972+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNASEL were changed from MIS-C to Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:48:38.500314+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNASEL as Amber List (moderate evidence)",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:48:38.485260+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnasel has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:48:01.225226+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNASEL: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:47:46.447761+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OAS2 as ready",
"entity_name": "OAS2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:47:46.420584+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oas2 has been classified as Green List (High Evidence).",
"entity_name": "OAS2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:47:21.935170+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OAS2 as Green List (high evidence)",
"entity_name": "OAS2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:47:21.921996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oas2 has been classified as Green List (High Evidence).",
"entity_name": "OAS2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:47:01.645008+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OAS2 was added\ngene: OAS2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: OAS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OAS2 were set to 36538032\nPhenotypes for gene: OAS2 were set to Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related\nReview for gene: OAS2 was set to GREEN\nAdded comment: 3x unrelated patients with MIS-C after COVID infection. Patients displayed excessive inflammatory responses to intracellular dsRNA, SARS-CoV-2, SARS-CoV-2–infected cells, and their RNA, providing a plausible mechanism for MIS-C. Similar presentation to OAS1 and RNASEL. Functional data. \nSources: Literature",
"entity_name": "OAS2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:45:17.870438+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OAS2 as ready",
"entity_name": "OAS2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:45:17.853204+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oas2 has been classified as Green List (High Evidence).",
"entity_name": "OAS2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:45:14.892816+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OAS2 were changed from MIS-C to Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related",
"entity_name": "OAS2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:44:31.981683+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OAS2 as Green List (high evidence)",
"entity_name": "OAS2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:44:31.966295+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oas2 has been classified as Green List (High Evidence).",
"entity_name": "OAS2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:43:57.414063+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OAS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36538032; Phenotypes: Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OAS2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:40:51.059011+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFATC2 were changed from Skeletal system disorder MONDO:0005172 to Skeletal system disorder MONDO:0005172; Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:40:29.302935+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NFATC2 were set to 35789258",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:40:05.501971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NFATC2: Rating: RED; Mode of pathogenicity: None; Publications: 38427060; Phenotypes: Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:38:13.161315+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFATC2 as ready",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:38:13.147184+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfatc2 has been classified as Red List (Low Evidence).",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:38:07.117633+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFATC2 were changed from EBV associated lymphoproliferative disease to Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:37:29.322292+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFATC2 as Red List (low evidence)",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:37:29.308502+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfatc2 has been classified as Red List (Low Evidence).",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:36:55.873372+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NFATC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:35:30.294714+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN8 as ready",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:35:30.276392+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln8 has been classified as Green List (High Evidence).",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:35:25.944140+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLN8 were changed from to neuronal ceroid lipofuscinosis MONDO:0016295",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:34:49.593622+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLN8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:01:24.557472+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6079",
"user_name": "Ken Lee Wan",
"item_type": "entity",
"text": "reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neuronal ceroid lipofuscinosis MONDO:0016295; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:58:54.756366+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKBKE as ready",
"entity_name": "IKBKE",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:58:54.743987+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbke has been classified as Amber List (Moderate Evidence).",
"entity_name": "IKBKE",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:58:40.681676+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKBKE as ready",
"entity_name": "IKBKE",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:58:40.668270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbke has been classified as Amber List (Moderate Evidence).",
"entity_name": "IKBKE",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:58:09.922785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IKBKE as Amber List (moderate evidence)",
"entity_name": "IKBKE",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:58:09.910837+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbke has been classified as Amber List (Moderate Evidence).",
"entity_name": "IKBKE",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:57:43.066918+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IKBKE was added\ngene: IKBKE was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IKBKE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKBKE were set to 37937644\nPhenotypes for gene: IKBKE were set to Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related\nReview for gene: IKBKE was set to AMBER\nAdded comment: Single patient with recurrent HSV meningitis with supportive functional data. \nSources: Literature",
"entity_name": "IKBKE",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:57:41.911189+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKBKE were changed from Recurrent HSV encephalitis to Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related",
"entity_name": "IKBKE",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:53:58.729570+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IKBKE as Amber List (moderate evidence)",
"entity_name": "IKBKE",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:53:58.691148+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbke has been classified as Amber List (Moderate Evidence).",
"entity_name": "IKBKE",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:53:17.644506+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IKBKE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IKBKE",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:49:31.458895+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYCP2L were set to 32303603",
"entity_name": "SYCP2L",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:49:08.733031+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SYCP2L as Green List (high evidence)",
"entity_name": "SYCP2L",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:49:08.713340+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sycp2l has been classified as Green List (High Evidence).",
"entity_name": "SYCP2L",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:48:48.681930+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID: 38521400 - A homozygous nonsense variant segregated with POI in a pedigree with two affected sisters (c.1528C>T, p.(Gln510Ter)) PMID: 32303603 - Two unrelated individuals with premature ovarian insufficiency and homozygous variants (c.150_151del (p.Ser52Profs*7), c.999A>G (p.Ile333Met)) in SYCP2L. Concordant mouse model.; to: PMID: 38521400 - A homozygous nonsense variant segregated with POI in a pedigree with two affected sisters c.1528C>T, p.(Gln510Ter)",
"entity_name": "SYCP2L",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:48:25.559935+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYCP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 38521400; Phenotypes: Premature ovarian failure 24, MIM# 620840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYCP2L",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:47:27.995305+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYCP2L were set to ",
"entity_name": "SYCP2L",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:47:15.037989+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SYCP2L as Green List (high evidence)",
"entity_name": "SYCP2L",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:47:15.018701+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sycp2l has been classified as Green List (High Evidence).",
"entity_name": "SYCP2L",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:44:30.714153+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HBS1L as ready",
"entity_name": "HBS1L",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:44:30.701730+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hbs1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "HBS1L",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:43:15.732768+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LEO1 as ready",
"entity_name": "LEO1",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:43:15.718942+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: leo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LEO1",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:43:07.587733+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LEO1 as Amber List (moderate evidence)",
"entity_name": "LEO1",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:43:07.573606+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: leo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LEO1",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:42:28.999273+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LEO1 was added\ngene: LEO1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: LEO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LEO1 were set to 38965372\nPhenotypes for gene: LEO1 were set to neurodevelopmental disorder MONDO:0700092, LEO-1 related\nReview for gene: LEO1 was set to AMBER\nAdded comment: cohort of individuals with delayed motor and speech development, ASD\r\n\r\n8x de novo – 6x missense + 2x PTC\r\n1x pat splice (father unaffected)\r\n2x unknown_inh PTCs\r\n\r\nOf the missense variants, G370E has 8 hets in gnomad v4\r\n\r\nThis gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4\r\n3 of the missense are said to lie within a region of missense constraint, however this isn't the case in v4 \nSources: Literature",
"entity_name": "LEO1",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:39:17.220632+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD2 were changed from Epileptic encephalopathy, childhood-onset (MIM # 615369) to Developmental and epileptic encephalopathy 94, MIM# 615369",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:38:44.903095+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD2 were set to ",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:38:09.598863+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 94, MIM# 615369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2024-08-02T10:32:28.917162+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6075",
"user_name": "Ken Lee Wan",
"item_type": "entity",
"text": "reviewed gene: CHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26677509; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2024-08-02T08:09:39.622805+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD28 were changed from Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901; isolated susceptibility to cutaneous α- and γ-HPVs to Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901; isolated susceptibility to cutaneous α- and γ-HPVs",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2024-08-02T08:09:16.070272+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD28 were changed from Hereditary predisposition to infections, MONDO:0015979, CD28-related; isolated susceptibility to cutaneous α- and γ-HPVs to Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901; isolated susceptibility to cutaneous α- and γ-HPVs",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2024-08-02T08:08:35.642347+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CD28: Changed phenotypes: Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2024-08-02T08:08:15.190344+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD28 were changed from Hereditary predisposition to infections, MONDO:0015979, CD28-related; isolated susceptibility to cutaneous α- and γ-HPVs to Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901; isolated susceptibility to cutaneous α- and γ-HPVs",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2024-08-02T08:07:44.802596+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CD28: Changed phenotypes: Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901, isolated susceptibility to cutaneous α- and γ-HPVs",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2024-08-02T08:07:27.980753+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CD28: Changed phenotypes: Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#62090, isolated susceptibility to cutaneous α- and γ-HPVs",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2024-08-01T19:52:21.229713+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK8 were changed from Familial renal cystic disease MONDO:0019741, NEK8-related, dominant to Polycystic kidney disease 8, MIM# 620903",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2024-08-01T19:51:40.752362+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 8, MIM# 620903; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2024-08-01T19:51:03.644277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK8 were changed from Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174; Familial renal cystic disease MONDO:0019741, NEK8-related, dominant to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174; Polycystic kidney disease 8, MIM# 620903",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2024-08-01T19:50:43.188341+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEK8: Changed phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174, Polycystic kidney disease 8, MIM# 620903",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2024-08-01T19:50:21.373029+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK8 were changed from Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174; Familial renal cystic disease MONDO:0019741, NEK8-related, dominant to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174; Polycystic kidney disease 8, MIM# 620903",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2024-08-01T19:49:43.760875+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEK8: Changed phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174, Polycystic kidney disease 8, MIM# 620903",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2024-08-01T17:27:26.081378+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6075",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: RBBP5 were changed from to neurodevelopmental disorder MONDO:0700092, RBBP5-related",
"entity_name": "RBBP5",
"entity_type": "gene"
},
{
"created": "2024-08-01T17:26:37.302349+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6074",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: RBBP5: Changed phenotypes: neurodevelopmental disorder MONDO:0700092, RBBP5-related",
"entity_name": "RBBP5",
"entity_type": "gene"
},
{
"created": "2024-08-01T17:25:07.214541+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6074",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PCBP2 as ready",
"entity_name": "PCBP2",
"entity_type": "gene"
},
{
"created": "2024-08-01T17:25:07.199598+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6074",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pcbp2 has been classified as Green List (High Evidence).",
"entity_name": "PCBP2",
"entity_type": "gene"
},
{
"created": "2024-08-01T17:25:01.157875+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1913",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: cohort of individuals with delayed motor and speech development, ASD\r\n\r\n8x de novo – 6x missense + 2x PTC\r\n1x pat splice (father unaffected)\r\n2x unknown_inh PTCs\r\n\r\nOf the missense variants, G370E has 8 hets in gnomad v4\r\n\r\nThis gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 \r\nSources: Literature; to: cohort of individuals with delayed motor and speech development, ASD\r\n\r\n8x de novo – 6x missense + 2x PTC\r\n1x pat splice (father unaffected)\r\n2x unknown_inh PTCs\r\n\r\nOf the missense variants, G370E has 8 hets in gnomad v4\r\n\r\nThis gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 \r\n3 of the missense are said to lie within a region of missense constraint, however this isn't the case in v4\r\n\r\nSources: Literature",
"entity_name": "LEO1",
"entity_type": "gene"
},
{
"created": "2024-08-01T17:24:15.302899+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6074",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: PCBP2 as Green List (high evidence)",
"entity_name": "PCBP2",
"entity_type": "gene"
},
{
"created": "2024-08-01T17:24:15.289922+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6074",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pcbp2 has been classified as Green List (High Evidence).",
"entity_name": "PCBP2",
"entity_type": "gene"
},
{
"created": "2024-08-01T17:23:11.729767+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6073",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: PCBP2 was added\ngene: PCBP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PCBP2 were set to 38965372\nPhenotypes for gene: PCBP2 were set to neurodevelopmental disorder MONDO:0700092, PCBP2-related\nReview for gene: PCBP2 was set to GREEN\ngene: PCBP2 was marked as current diagnostic\nAdded comment: 3x individuals with de novo variants\r\nMotor and speech delay and ASD\r\n2x missense + 1x fs\r\n\r\nThere are 2 NMD variants with 9 and 8 hets respectively in gnomad v4, however the IGV looks to be low quality \nSources: Literature",
"entity_name": "PCBP2",
"entity_type": "gene"
},
{
"created": "2024-08-01T17:22:45.339454+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1913",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PCBP2 as ready",
"entity_name": "PCBP2",
"entity_type": "gene"
},
{
"created": "2024-08-01T17:22:45.311039+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1913",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pcbp2 has been classified as Green List (High Evidence).",
"entity_name": "PCBP2",
"entity_type": "gene"
},
{
"created": "2024-08-01T17:21:36.462854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1913",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: PCBP2 as Green List (high evidence)",
"entity_name": "PCBP2",
"entity_type": "gene"
},
{
"created": "2024-08-01T17:21:36.449082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1913",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pcbp2 has been classified as Green List (High Evidence).",
"entity_name": "PCBP2",
"entity_type": "gene"
},
{
"created": "2024-08-01T17:21:12.462288+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1912",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: PCBP2 was added\ngene: PCBP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PCBP2 were set to 38965372\nPhenotypes for gene: PCBP2 were set to neurodevelopmental disorder MONDO:0700092, PCBP2-related\nReview for gene: PCBP2 was set to GREEN\ngene: PCBP2 was marked as current diagnostic\nAdded comment: 3x individuals with de novo variants\r\nMotor and speech delay and ASD\r\n2x missense + 1x fs\r\n\r\nThere are 2 NMD variants with 9 and 8 hets respectively in gnomad v4, however the IGV looks to be low quality \nSources: Literature",
"entity_name": "PCBP2",
"entity_type": "gene"
},
{
"created": "2024-08-01T17:16:52.316901+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.76",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "changed review comment from: 20+ unrelated Arab families reported in the literature with the same homozygous missense variant in this gene causing intellectual disability (p.(Val128Met))\r\nOther features can include microcephaly, growth failure, epilepsy.; to: 20+ unrelated Arab families reported in the literature with the same homozygous missense variant in this gene causing intellectual disability (p.(Val128Met)). One known family with a different variant in the same gene. \r\nOther features can include microcephaly, growth failure, epilepsy.",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2024-08-01T17:15:42.761444+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.76",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: ADAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23620220, 26842963, 29796286, 30296593, 35118659; Phenotypes: Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, MIM#615286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2024-08-01T17:11:32.658493+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1911",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: enrichment of a neurodev cohort\r\nLEO1:\r\n8x de novo – 6x missense + 2x PTC\r\n1x pat splice (father unaffected)\r\n2x unknown_inh PTCs\r\n\r\nOf the missense variants, G370E has 8 hets in gnomad v4\r\n\r\nThis gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 \r\nSources: Literature; to: cohort of individuals with delayed motor and speech development, ASD\r\n\r\n8x de novo – 6x missense + 2x PTC\r\n1x pat splice (father unaffected)\r\n2x unknown_inh PTCs\r\n\r\nOf the missense variants, G370E has 8 hets in gnomad v4\r\n\r\nThis gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 \r\nSources: Literature",
"entity_name": "LEO1",
"entity_type": "gene"
},
{
"created": "2024-08-01T16:59:25.622223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1911",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: enrichment of a neurodev cohort\r\nLEO1:\r\n8x de novo – 6x missense + 2x PTC\r\n1x pat splice\r\n2x unknown_inh PTCs\r\n\r\nOf the missense variants, G370E has 8 hets in gnomad v4\r\n\r\nThis gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 \nSources: Literature; to: enrichment of a neurodev cohort\r\nLEO1:\r\n8x de novo – 6x missense + 2x PTC\r\n1x pat splice (father unaffected)\r\n2x unknown_inh PTCs\r\n\r\nOf the missense variants, G370E has 8 hets in gnomad v4\r\n\r\nThis gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 \r\nSources: Literature",
"entity_name": "LEO1",
"entity_type": "gene"
},
{
"created": "2024-08-01T16:48:25.123863+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.76",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37696499, 29987015; Phenotypes: Bone marrow failure syndrome 2 MIM#615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2024-08-01T16:39:48.424908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1911",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: LEO1 as ready",
"entity_name": "LEO1",
"entity_type": "gene"
},
{
"created": "2024-08-01T16:39:48.396147+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1911",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: leo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LEO1",
"entity_type": "gene"
},
{
"created": "2024-08-01T16:39:39.385450+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1911",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: LEO1 as Amber List (moderate evidence)",
"entity_name": "LEO1",
"entity_type": "gene"
},
{
"created": "2024-08-01T16:39:39.368180+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1911",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: leo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LEO1",
"entity_type": "gene"
},
{
"created": "2024-08-01T16:39:05.120847+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1910",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: LEO1 was added\ngene: LEO1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LEO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LEO1 were set to 38965372\nPhenotypes for gene: LEO1 were set to neurodevelopmental disorder MONDO:0700092, LEO-1 related\nReview for gene: LEO1 was set to AMBER\ngene: LEO1 was marked as current diagnostic\nAdded comment: enrichment of a neurodev cohort\r\nLEO1:\r\n8x de novo – 6x missense + 2x PTC\r\n1x pat splice\r\n2x unknown_inh PTCs\r\n\r\nOf the missense variants, G370E has 8 hets in gnomad v4\r\n\r\nThis gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 \nSources: Literature",
"entity_name": "LEO1",
"entity_type": "gene"
}
]
}