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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=803",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=801",
"results": [
{
"created": "2022-07-13T18:37:58.659588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Rare homozygous CD28 variant segregates with severe verrucosis in three relatives and supportive functional data. \nSources: Expert Review; to: Rare homozygous CD28 variant segregates with severe verrucosis in three relatives and supportive functional data. CD28-deficient mice are susceptible to cutaneous infections with the mouse papillomavirus MmuPV1.\r\nSources: Expert Review",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:37:14.069901+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD28 was added\ngene: CD28 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: CD28 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD28 were set to 34214472\nPhenotypes for gene: CD28 were set to Hereditary predisposition to infections, MONDO:0015979, CD28-related; isolated susceptibility to cutaneous α- and γ-HPVs\nReview for gene: CD28 was set to RED\nAdded comment: Rare homozygous CD28 variant segregates with severe verrucosis in three relatives and supportive functional data. \nSources: Expert Review",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:36:48.487284+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.90",
"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 Hereditary predisposition to infections, MONDO:0015979, CD28-related; isolated susceptibility to cutaneous α- and γ-HPVs",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:35:58.810094+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD28 were changed from isolated susceptibility to cutaneous α- and γ-HPVs to Hereditary predisposition to infections, MONDO:0015979, CD28-related; isolated susceptibility to cutaneous α- and γ-HPVs",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:34:01.735105+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD28 as Red List (low evidence)",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:34:01.721451+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd28 has been classified as Red List (Low Evidence).",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:33:04.238584+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IKZF3 as Green List (high evidence)",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:33:04.226645+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf3 has been classified as Green List (High Evidence).",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:32:48.518433+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IKZF3: Added comment: Additional multigenerational family where novel missense variant segregated with disease in 4 individuals.; Changed rating: GREEN; Changed publications: 34155405, 34694366",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:32:19.901361+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IKZF3 were set to 34155405",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:31:35.887146+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKZF3 as ready",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:31:35.881981+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Additional family with good segregation data: two families and mouse model, so upgrade to Green.",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:31:35.856068+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf3 has been classified as Green List (High Evidence).",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:30:53.309290+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IKZF3 as Green List (high evidence)",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:30:53.301279+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf3 has been classified as Green List (High Evidence).",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:30:37.139786+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IKZF3 as Green List (high evidence)",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:30:37.131033+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf3 has been classified as Green List (High Evidence).",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:29:19.707146+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COPG1 as Amber List (moderate evidence)",
"entity_name": "COPG1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:29:19.699174+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COPG1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:29:10.265762+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COPG1 as ready",
"entity_name": "COPG1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:29:10.254685+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COPG1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:28:59.918931+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COPG1 as Amber List (moderate evidence)",
"entity_name": "COPG1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:28:59.910317+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COPG1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:28:43.181612+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COPG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33529166; Phenotypes: Combined immunodeficiency MONDO:0015131, COPG1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COPG1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:28:30.726447+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COPG1: Changed rating: AMBER",
"entity_name": "COPG1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:27:39.918343+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COPG1 was added\ngene: COPG1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: COPG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COPG1 were set to 33529166\nPhenotypes for gene: COPG1 were set to Combined immunodeficiency MONDO:0015131, COPG1-related\nReview for gene: COPG1 was set to RED\nAdded comment: Five Omani siblings, born to consanguineous parents, homozygous missense.\r\n\r\nHomozygous Copg1K652E mice had increased ER stress in activated T and B cells, poor antibody responses, and normal numbers of T cells that proliferated normally, but underwent increased apoptosis upon activation. Exposure of the mutants to pet store mice caused weight loss, lymphopenia, and defective T cell proliferation that recapitulated the findings in the patients. The ER stress-relieving agent tauroursodeoxycholic acid corrected the immune defects of the mutants and reversed the phenotype they acquired following exposure to pet store mice. \nSources: Expert Review",
"entity_name": "COPG1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:26:36.431227+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COPG1 as ready",
"entity_name": "COPG1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:26:36.423074+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copg1 has been classified as Red List (Low Evidence).",
"entity_name": "COPG1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:26:32.565986+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COPG1 were changed from Combined immunodeficiency MONDO:0015131, COPG1-related to Combined immunodeficiency MONDO:0015131, COPG1-related",
"entity_name": "COPG1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:25:41.467072+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COPG1 were changed from Combined Immune deficiency to Combined immunodeficiency MONDO:0015131, COPG1-related",
"entity_name": "COPG1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:24:48.456194+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COPG1 as Red List (low evidence)",
"entity_name": "COPG1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:24:48.444662+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copg1 has been classified as Red List (Low Evidence).",
"entity_name": "COPG1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:23:46.249618+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAN2B2 as ready",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:23:46.237885+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b2 has been classified as Red List (Low Evidence).",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:23:43.962918+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAN2B2 were changed from Combined Immune deficiency to Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related; Combined Immune deficiency",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:23:14.207031+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAN2B2 as Red List (low evidence)",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:23:14.198658+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b2 has been classified as Red List (Low Evidence).",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:22:47.990780+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAN2B2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:21:27.017776+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS37A as ready",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:21:27.007815+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps37a has been classified as Red List (Low Evidence).",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:21:22.534420+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS37A were set to ",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:21:10.349647+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS37A as Red List (low evidence)",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:21:10.338002+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps37a has been classified as Red List (Low Evidence).",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:20:37.667160+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UQCRQ as ready",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:20:37.654473+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrq has been classified as Red List (Low Evidence).",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:20:33.702239+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UQCRQ were set to ",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:20:23.877070+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UQCRQ as Red List (low evidence)",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:20:23.868333+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrq has been classified as Red List (Low Evidence).",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:19:44.182660+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGO1 as ready",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:19:44.156586+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgo1 has been classified as Red List (Low Evidence).",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:19:39.032897+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SGO1 were set to ",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:19:29.133115+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SGO1 as Red List (low evidence)",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:19:29.121040+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgo1 has been classified as Red List (Low Evidence).",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:19:21.396330+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SGO1.",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:18:41.216626+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSPAN7 as ready",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:18:41.198553+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tspan7 has been classified as Red List (Low Evidence).",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:18:38.253846+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSPAN7 were changed from Mental retardation, X-linked 58, 300210 (3) to Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:18:28.195939+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSPAN7 were set to ",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:18:11.850969+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSPAN7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:17:29.500847+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TSPAN7 as Amber List (moderate evidence)",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:17:29.489252+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tspan7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:17:02.931472+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed was removed from gene: TSPAN7.",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:16:53.117393+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TSPAN7: Added comment: Two families reported with LoF variants and ID: Abidi FE et al. 2002 Jun (PMID:12070254); Zemni R et al. 2000 Feb (PMID:10655063) Assessed as MODERATE by ClinGen.; Changed rating: AMBER",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:16:16.426305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed was removed from gene: TSPAN7.",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:16:02.037480+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TSPAN7: Added comment: Two families reported with LoF variants and ID: Abidi FE et al. 2002 Jun (PMID:12070254); Zemni R et al. 2000 Feb (PMID:10655063)\r\n\r\nAssessed as MODERATE by ClinGen.; Changed rating: AMBER; Changed publications: 12070254, 10655063",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:13:23.495113+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: TSPAN7.",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:13:11.649141+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TSPAN7: Changed rating: RED",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:12:48.924131+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TSPAN7 as Red List (low evidence)",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:12:48.912906+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tspan7 has been classified as Red List (Low Evidence).",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:12:20.537242+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: TSPAN7.",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:12:10.942449+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TSPAN7: Changed rating: RED",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:11:42.929050+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TSPAN7 as Red List (low evidence)",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:11:42.917257+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tspan7 has been classified as Red List (Low Evidence).",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:11:35.130355+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: TSPAN7.",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-07-13T17:05:50.597998+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFNAR2 were set to 26424569",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2022-07-13T17:05:25.617454+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFNAR2 as Green List (high evidence)",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2022-07-13T17:05:25.605466+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifnar2 has been classified as Green List (High Evidence).",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2022-07-13T17:05:09.154794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFNAR2: Added comment: Five children from Greenland, Canada, and Alaska presenting with viral diseases, including life-threatening COVID-19 or influenza, in addition to meningoencephalitis and/or hemophagocytic lymphohistiocytosis following live-attenuated viral vaccination; Changed rating: GREEN; Changed publications: 26424569, 35442417",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2022-07-13T17:05:05.755795+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFNAR2 were set to 26424569",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2022-07-13T17:04:37.630796+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFNAR2 as Green List (high evidence)",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2022-07-13T17:04:37.618745+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifnar2 has been classified as Green List (High Evidence).",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2022-07-13T17:03:43.677360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFNAR1 were changed from Severe disease caused by Yellow Fever vaccine and Measles vaccine to Immunodeficiency 106, susceptibility to viral infections, MIM# 619935; Severe disease caused by Yellow Fever vaccine and Measles vaccine",
"entity_name": "IFNAR1",
"entity_type": "gene"
},
{
"created": "2022-07-13T17:03:23.695893+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFNAR1 were set to 31270247",
"entity_name": "IFNAR1",
"entity_type": "gene"
},
{
"created": "2022-07-13T17:03:04.035599+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFNAR1 as Green List (high evidence)",
"entity_name": "IFNAR1",
"entity_type": "gene"
},
{
"created": "2022-07-13T17:03:04.021865+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifnar1 has been classified as Green List (High Evidence).",
"entity_name": "IFNAR1",
"entity_type": "gene"
},
{
"created": "2022-07-13T17:02:45.456847+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFNAR1: Changed rating: GREEN",
"entity_name": "IFNAR1",
"entity_type": "gene"
},
{
"created": "2022-07-13T17:02:36.283203+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFNAR1: Added comment: Seven children from five unrelated kindreds; Changed publications: 31270247, 35442418; Changed phenotypes: Immunodeficiency 106, susceptibility to viral infections, MIM# 619935, Severe disease caused by Yellow Fever vaccine and Measles vaccine",
"entity_name": "IFNAR1",
"entity_type": "gene"
},
{
"created": "2022-07-13T17:02:17.652804+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFNAR1 were changed from Severe disease caused by Yellow Fever vaccine and Measles vaccine to Immunodeficiency 106, susceptibility to viral infections, MIM#\t619935; Severe disease caused by Yellow Fever vaccine and Measles vaccine",
"entity_name": "IFNAR1",
"entity_type": "gene"
},
{
"created": "2022-07-13T17:01:38.785465+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFNAR1 as Green List (high evidence)",
"entity_name": "IFNAR1",
"entity_type": "gene"
},
{
"created": "2022-07-13T17:01:38.769763+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifnar1 has been classified as Green List (High Evidence).",
"entity_name": "IFNAR1",
"entity_type": "gene"
},
{
"created": "2022-07-13T16:59:10.595503+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SLC26A1.",
"entity_name": "SLC26A1",
"entity_type": "gene"
},
{
"created": "2022-07-13T16:58:59.704995+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC26A1 as Red List (low evidence)",
"entity_name": "SLC26A1",
"entity_type": "gene"
},
{
"created": "2022-07-13T16:58:59.697167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC26A1",
"entity_type": "gene"
},
{
"created": "2022-07-13T16:58:04.033305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK8 were changed from Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174 to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174; Familial renal cystic disease MONDO:0019741, NEK8-related, dominant",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2022-07-13T16:57:40.108468+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEK8 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2022-07-13T16:56:58.217871+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEK8: Added comment: ESHG 2022: 12 families with paediatric renal cystic disease (enlarged kidneys, kidney cysts, ESKF <20yrs) -3 recurrent HTZ variants in NEK8 kinase domain (Arg45Trp, Ile150Met, Lys157Gln) -suspected dominant negative effect -patient fibroblasts show normal ciliogenesis and normal localisation and expression of NEK8 (Note carriers of AR-NEK8 disease do not show renal manifestations, as variants are LOF); Changed phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174, Familial renal cystic disease MONDO:0019741, NEK8-related, dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2022-07-13T16:55:57.527024+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK8 were changed from Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174 to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174; Familial renal cystic disease MONDO:0019741, NEK8-related, dominant",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2022-07-13T16:54:59.281889+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEK8 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2022-07-13T16:54:33.103974+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEK8: Added comment: ESHG 2022:\r\n12 families with paediatric renal cystic disease (enlarged kidneys, kidney cysts, ESKF <20yrs) -3 recurrent HTZ variants in NEK8 kinase domain (Arg45Trp, Ile150Met, Lys157Gln) -suspected dominant negative effect -patient fibroblasts show normal ciliogenesis and normal localisation and expression of NEK8 (Note carriers of AR-NEK8 disease do not show renal manifestations, as variants are LOF); Changed phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174, Familial renal cystic disease MONDO:0019741, NEK8-related, dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2022-07-13T16:53:45.972642+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK8 as ready",
"entity_name": "NEK8",
"entity_type": "gene"
}
]
}