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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=413",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=411",
"results": [
{
"created": "2024-08-02T16:32:37.557036+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd274 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2024-08-02T16:32:23.989054+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD274 as Amber List (moderate evidence)",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2024-08-02T16:32:23.975844+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd274 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2024-08-02T16:30:38.534835+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RINT1 were changed from Infantile liver failure syndrome 3, MIM# 618641 to Infantile liver failure syndrome 3, MIM# 618641; Hereditary spastic paraplegia, MONDO:0019064, RINT1-related",
"entity_name": "RINT1",
"entity_type": "gene"
},
{
"created": "2024-08-02T16:30:16.714182+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RINT1 were set to PMID: 31204009",
"entity_name": "RINT1",
"entity_type": "gene"
},
{
"created": "2024-08-02T16:29:46.715855+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37463447, 38990652; Phenotypes: Hereditary spastic paraplegia, MONDO:0019064, RINT1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RINT1",
"entity_type": "gene"
},
{
"created": "2024-08-02T16:29:41.625213+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6096",
"user_name": "Ken Lee Wan",
"item_type": "entity",
"text": "reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38303731; Phenotypes: Methemoglobinemia MONDO:0001117; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CYB5R3",
"entity_type": "gene"
},
{
"created": "2024-08-02T16:28:55.835406+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RINT1 were changed from Infantile liver failure syndrome 3, MIM# 618641; Hereditary spastic paraplegia, MONDO:0019064, RINT1-related to Hereditary spastic paraplegia, MONDO:0019064, RINT1-related",
"entity_name": "RINT1",
"entity_type": "gene"
},
{
"created": "2024-08-02T16:28:36.649707+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RINT1 were set to 37463447",
"entity_name": "RINT1",
"entity_type": "gene"
},
{
"created": "2024-08-02T16:28:14.795954+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RINT1 as Green List (high evidence)",
"entity_name": "RINT1",
"entity_type": "gene"
},
{
"created": "2024-08-02T16:28:14.779791+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rint1 has been classified as Green List (High Evidence).",
"entity_name": "RINT1",
"entity_type": "gene"
},
{
"created": "2024-08-02T16:27:46.745608+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38990652; Phenotypes: Hereditary spastic paraplegia, MONDO:0019064, RINT1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RINT1",
"entity_type": "gene"
},
{
"created": "2024-08-02T16:25:05.600790+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HDAC3 as ready",
"entity_name": "HDAC3",
"entity_type": "gene"
},
{
"created": "2024-08-02T16:25:05.556963+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac3 has been classified as Green List (High Evidence).",
"entity_name": "HDAC3",
"entity_type": "gene"
},
{
"created": "2024-08-02T16:07:23.600476+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6096",
"user_name": "Ken Lee Wan",
"item_type": "entity",
"text": "reviewed gene: CTSD: 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": "CTSD",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:56:53.129958+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6096",
"user_name": "Ken Lee Wan",
"item_type": "entity",
"text": "reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23915561, 36713078; Phenotypes: Galactosialidosis MONDO:0009737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:34:28.911839+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HDAC3 as Green List (high evidence)",
"entity_name": "HDAC3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:34:28.892945+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac3 has been classified as Green List (High Evidence).",
"entity_name": "HDAC3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:32:27.905838+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6096",
"user_name": "Ken Lee Wan",
"item_type": "entity",
"text": "reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301787; Phenotypes: congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0011402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:28:05.110354+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HDAC3 as Green List (high evidence)",
"entity_name": "HDAC3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:28:05.072205+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac3 has been classified as Green List (High Evidence).",
"entity_name": "HDAC3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:25:53.959222+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HDAC3: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, HDAC3-related",
"entity_name": "HDAC3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:25:24.323599+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HDAC3 as ready",
"entity_name": "HDAC3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:25:24.310322+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac3 has been classified as Green List (High Evidence).",
"entity_name": "HDAC3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:25:12.158581+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HDAC3 as Green List (high evidence)",
"entity_name": "HDAC3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:25:12.140626+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac3 has been classified as Green List (High Evidence).",
"entity_name": "HDAC3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:24:34.090974+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HDAC3 was added\ngene: HDAC3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HDAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HDAC3 were set to 39047730\nPhenotypes for gene: HDAC3 were set to Neurodevelopmental disorder, MONDO:0700092, HDAC3-related\nReview for gene: HDAC3 was set to GREEN\nAdded comment: Six individuals with de novo missense variants in this gene and variable NDD phenotypes, including ID, seizures. Supportive functional data. \nSources: Literature",
"entity_name": "HDAC3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:24:31.108032+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HDAC3 were changed from to Neurodevelopmental disorder, MONDO:0700092, HDAC3-related",
"entity_name": "HDAC3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:22:54.911044+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HDAC3 was added\ngene: HDAC3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: HDAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HDAC3 were set to 39047730\nPhenotypes for gene: HDAC3 were set to Neurodevelopmental disorder, MONDO:0700092, HDAC3-related\nReview for gene: HDAC3 was set to GREEN\nAdded comment: Six individuals with de novo missense variants in this gene and variable NDD phenotypes, including ID, seizures. Supportive functional data. \nSources: Literature",
"entity_name": "HDAC3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:22:35.825782+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HDAC3 as Green List (high evidence)",
"entity_name": "HDAC3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:22:35.810291+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac3 has been classified as Green List (High Evidence).",
"entity_name": "HDAC3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:21:15.582552+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HDAC3 as Green List (high evidence)",
"entity_name": "HDAC3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:21:15.560010+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac3 has been classified as Green List (High Evidence).",
"entity_name": "HDAC3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:20:20.992572+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HDAC3 was added\ngene: HDAC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: HDAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HDAC3 were set to 39047730\nReview for gene: HDAC3 was set to GREEN\nAdded comment: Six individuals with de novo missense variants in this gene and variable NDD phenotypes, including ID, seizures. Supportive functional data. \nSources: Literature",
"entity_name": "HDAC3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:04:50.504389+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC39A14 as ready",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:04:50.490437+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a14 has been classified as Green List (High Evidence).",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:04:37.012031+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC39A14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:03:56.834651+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC39A14 were set to ",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:03:03.624063+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC39A14 were changed from to Hypermanganesemia with dystonia 2 (MIM# 617013)",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:01:34.296904+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPM3 as ready",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:01:34.281893+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm3 has been classified as Red List (Low Evidence).",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:01:23.425769+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPM3 as Red List (low evidence)",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2024-08-02T15:01:23.407759+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm3 has been classified as Red List (Low Evidence).",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:59:57.024155+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITPR3 were changed from Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111 to Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111; Combined immunodeficiency, MONDO:0015131, ITPR3-related",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:59:35.441296+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITPR3 were set to 32949214; 24627108",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:59:12.122989+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITPR3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:58:39.411033+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ITPR3: Changed publications: 32949214, 24627108, 36302985; Changed phenotypes: Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111, Combined immunodeficiency, MONDO:0015131, ITPR3-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:58:26.830985+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6089",
"user_name": "Ken Lee Wan",
"item_type": "entity",
"text": "reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31621627, 31741144; Phenotypes: coenzyme Q10 deficiency MONDO:0018151; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:57:28.133883+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITPR3 were changed from Combined immunodeficiency, MONDO:0015131, ITPR3-related to Combined immunodeficiency, MONDO:0015131, ITPR3-related",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:57:27.462214+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITPR3 as ready",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:57:27.437234+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itpr3 has been classified as Green List (High Evidence).",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:57:03.142226+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITPR3 were changed from ombined immunodeficiency, MONDO:0015131, ITPR3-related to Combined immunodeficiency, MONDO:0015131, ITPR3-related",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:56:32.779550+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITPR3 were changed from Combined Immune deficiency, immune dysregulation to ombined immunodeficiency, MONDO:0015131, ITPR3-related",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:55:38.645327+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITPR3 as Green List (high evidence)",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:55:38.627959+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itpr3 has been classified as Green List (High Evidence).",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:55:02.184916+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITPR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined immunodeficiency, MONDO:0015131, ITPR3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:50:53.456202+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A2 as ready",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:50:53.441350+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a2 has been classified as Green List (High Evidence).",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:50:37.750686+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A2 were changed from Brain small vessel disease 2, MIM#\t614483; familial porencephaly MONDO:0020496 to Brain small vessel disease 2, MIM#\t614483; familial porencephaly MONDO:0020496",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:50:03.800326+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A2 were changed from to Brain small vessel disease 2, MIM#\t614483; familial porencephaly MONDO:0020496",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:49:15.647861+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A2 were set to ",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:48:38.588873+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:47:35.591666+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ4 as ready",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:47:35.576193+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq4 has been classified as Green List (High Evidence).",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:47:29.587113+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, MIM# 616276; neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0014562 to Coenzyme Q10 deficiency, primary, 7, MIM# 616276; neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0014562",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:47:04.588831+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, MIM# 616276 to Coenzyme Q10 deficiency, primary, 7, MIM# 616276; neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0014562",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:46:40.789304+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ4 were changed from to Coenzyme Q10 deficiency, primary, 7, MIM# 616276",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:46:02.751788+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ4 were set to 34656997",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:45:40.335958+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ4 were set to ",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:42:20.622259+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:40:46.061291+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC93B1 were changed from Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 to Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1, MIM#610551; Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:40:24.016548+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC93B1 were set to 16973841; 29768176",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:40:02.842854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC93B1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:39:41.157326+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNC93B1 as Green List (high evidence)",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:39:41.143017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc93b1 has been classified as Green List (High Evidence).",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:38:58.199691+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UNC93B1: Changed phenotypes: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1, MIM#610551, Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:38:36.730324+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UNC93B1: Added comment: PMID 38869500: Rare missense substitutions in UNC93B1 in probands from five unrelated kindreds presenting with early onset SLE (two probands) or CBL (three probands). Clinical, genetic, and functional in vitro and ex vivo data demonstrating changes in TLR7/8 signalling and trafficking.; Changed rating: GREEN; Changed publications: 29768176, 38869500; Changed phenotypes: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1, Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:37:45.495039+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC93B1 as ready",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:37:45.475758+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc93b1 has been classified as Green List (High Evidence).",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:37:24.505601+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC93B1 were changed from SLE, chilblain lupus to Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:36:52.016027+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNC93B1 as Green List (high evidence)",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:36:51.999833+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc93b1 has been classified as Green List (High Evidence).",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:36:15.972426+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC93B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2024-08-02T14:34:14.105355+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: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 34656997; Phenotypes: mitochondrial disease MONDO:0044970, neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0014562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-08-02T13:56:45.351948+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD274 was added\ngene: CD274 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CD274 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD274 were set to 38634869\nPhenotypes for gene: CD274 were set to Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790\nReview for gene: CD274 was set to AMBER\nAdded comment: Two siblings, born to second-degree consanguineous parents of Moroccan descent, both developed neonatal-onset T1D (diagnosed at the ages of 1 day and 7 wk, respectively). One sibling was subsequently diagnosed with asthma at the age of 5 mo, auto-immune hypothyroidism at the age of 3 years, and growth hormone (GH) deficiency at the age of 10 years. He also had mild intellectual disability with delayed language development. By contrast, his sister had no clinical manifestations other than T1D. \r\n\r\nHomozygous for splicing variant. This is the ligand of PD1, deficiency of which is also linked to immune dysregulation. Functional data. \nSources: Literature",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2024-08-02T13:54:18.372135+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEL as ready",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-08-02T13:54:18.352626+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.126",
"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": "2024-08-02T12:00:17.722041+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD274 as ready",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2024-08-02T12:00:17.707079+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd274 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2024-08-02T12:00:08.682596+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD274 were changed from Immune dysregulation to Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:59:27.842283+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD274 as Amber List (moderate evidence)",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:59:27.826955+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd274 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:58:55.388451+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CD274: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:56:03.789025+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SH2B3 as ready",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:56:03.763233+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sh2b3 has been classified as Green List (High Evidence).",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:56:00.284411+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SH2B3 were changed from Immune to Predisposition to haematological malignancies; Myeloproliferation and multi-organ autoimmunity; juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:55:21.093804+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SH2B3 as Green List (high evidence)",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:55:21.080345+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sh2b3 has been classified as Green List (High Evidence).",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:54:44.450776+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SH2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Predisposition to haematological malignancies, Myeloproliferation and multi-organ autoimmunity, juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2024-08-02T11:53:38.685707+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NBEAL2 as ready",
"entity_name": "NBEAL2",
"entity_type": "gene"
}
]
}