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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=350",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=348",
"results": [
{
"created": "2024-11-12T07:50:40.270188+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POU2AF1 as Amber List (moderate evidence)",
"entity_name": "POU2AF1",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:50:40.258604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pou2af1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POU2AF1",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:50:21.165537+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2134",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: POU2AF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35603192, 33571536; Phenotypes: Agammaglobulinemia MONDO:0015977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POU2AF1",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:49:53.433851+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POU2AF1 as Amber List (moderate evidence)",
"entity_name": "POU2AF1",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:49:53.424299+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pou2af1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POU2AF1",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:49:13.809670+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: POU2AF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35603192, 33571536; Phenotypes: Agammaglobulinemia MONDO:0015977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POU2AF1",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:27:30.747452+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KARS as ready",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:27:30.734455+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kars has been classified as Green List (High Evidence).",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:27:10.701482+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KARS as Green List (high evidence)",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:27:10.691733+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kars has been classified as Green List (High Evidence).",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:24:54.979636+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.144",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KARS was added\ngene: KARS was added to Predominantly Antibody Deficiency. Sources: Expert list\nMode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KARS were set to 37770806\nPhenotypes for gene: KARS were set to leukoencephalopathy, progressive, infantile-onset, with or without deafness MONDO:0030893\nReview for gene: KARS was set to GREEN\ngene: KARS was marked as current diagnostic\nAdded comment: Recurrent/severe infections (9/17) and B cell abnormalities (either B cell lymphopenia [3/9], hypogammaglobulinemia [either IgG, IgA or IgM; 6/15] or impaired vaccine responses [4/7]) have been reported in cases with KARS1-related disease. \nSources: Expert list",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:18:17.793643+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.143",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IGKC as ready",
"entity_name": "IGKC",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:18:17.781309+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.143",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: igkc has been classified as Amber List (Moderate Evidence).",
"entity_name": "IGKC",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:18:14.012441+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2134",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IGKC as ready",
"entity_name": "IGKC",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:18:14.001685+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2134",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: igkc has been classified as Amber List (Moderate Evidence).",
"entity_name": "IGKC",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:18:00.922915+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2134",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IGKC as Amber List (moderate evidence)",
"entity_name": "IGKC",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:18:00.902189+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2134",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: igkc has been classified as Amber List (Moderate Evidence).",
"entity_name": "IGKC",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:17:57.045537+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.143",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IGKC as Amber List (moderate evidence)",
"entity_name": "IGKC",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:17:57.032685+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.143",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: igkc has been classified as Amber List (Moderate Evidence).",
"entity_name": "IGKC",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:17:26.644444+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IGKC was added\ngene: IGKC was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: IGKC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IGKC were set to https://search.clinicalgenome.org/CCID:005121\nPhenotypes for gene: IGKC were set to recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576\nReview for gene: IGKC was set to AMBER\nAdded comment: Antibody Deficiencies GCEP classify gene-disease association as Limited (18/05/2021) - at least 6 probands https://search.clinicalgenome.org/CCID:005121 \nSources: Expert list",
"entity_name": "IGKC",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:16:40.741768+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.142",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IGKC was added\ngene: IGKC was added to Predominantly Antibody Deficiency. Sources: Expert list\nMode of inheritance for gene: IGKC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IGKC were set to https://search.clinicalgenome.org/CCID:005121\nPhenotypes for gene: IGKC were set to recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576\nReview for gene: IGKC was set to AMBER\nAdded comment: Antibody Deficiencies GCEP classify gene-disease association as Limited (18/05/2021)\r\n- at least 6 probands\r\nhttps://search.clinicalgenome.org/CCID:005121 \nSources: Expert list",
"entity_name": "IGKC",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:49:49.528885+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.141",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CTNNBL1 as ready",
"entity_name": "CTNNBL1",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:49:49.517124+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.141",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTNNBL1",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:49:42.862342+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.141",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CTNNBL1 as Amber List (moderate evidence)",
"entity_name": "CTNNBL1",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:49:42.841167+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.141",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTNNBL1",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:49:03.870531+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.140",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CTNNBL1 was added\ngene: CTNNBL1 was added to Predominantly Antibody Deficiency. Sources: Expert list\nMode of inheritance for gene: CTNNBL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTNNBL1 were set to 23343763; 32484799\nPhenotypes for gene: CTNNBL1 were set to common variable immunodeficiency MONDO:0015517\nReview for gene: CTNNBL1 was set to AMBER\nAdded comment: A single case has been reported and a supporting null mouse model. \r\nhttps://search.clinicalgenome.org/CCID:004601 \nSources: Expert list",
"entity_name": "CTNNBL1",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:29:16.865059+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PTCRA as ready",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:29:16.854119+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptcra has been classified as Green List (High Evidence).",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:28:51.267916+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PTCRA as Green List (high evidence)",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:28:51.255528+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptcra has been classified as Green List (High Evidence).",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:28:18.774155+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PTCRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 38422122; Phenotypes: Immunodeficiency 126, MIM# 620931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:25:44.726918+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTCRA was added\ngene: PTCRA was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: PTCRA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTCRA were set to 38422122\nPhenotypes for gene: PTCRA were set to Immunodeficiency 126, MIM# 620931",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:20:56.434314+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FLT3LG as Amber List (moderate evidence)",
"entity_name": "FLT3LG",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:20:56.422326+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: flt3lg has been classified as Amber List (Moderate Evidence).",
"entity_name": "FLT3LG",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:20:49.914548+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FLT3LG as ready",
"entity_name": "FLT3LG",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:20:49.899201+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: flt3lg has been classified as Amber List (Moderate Evidence).",
"entity_name": "FLT3LG",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:20:34.727044+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FLT3LG as Amber List (moderate evidence)",
"entity_name": "FLT3LG",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:20:34.689336+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: flt3lg has been classified as Amber List (Moderate Evidence).",
"entity_name": "FLT3LG",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:19:48.207151+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.101",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FLT3LG: Rating: AMBER; Mode of pathogenicity: None; Publications: 10828034, 38701783; Phenotypes: ?Immunodeficiency 125 MIM#620926; Mode of inheritance: None",
"entity_name": "FLT3LG",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:19:07.830475+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FLT3LG was added\ngene: FLT3LG was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: FLT3LG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FLT3LG were set to 10828034; 38701783\nPhenotypes for gene: FLT3LG were set to ?Immunodeficiency 125 MIM#620926\nReview for gene: FLT3LG was set to AMBER\nAdded comment: One family reported and mouse models. IUIS IEI committee classify this gene as a Combined immunodeficiency with associated or syndromic features. \nSources: Expert list",
"entity_name": "FLT3LG",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:18:51.688029+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FLT3LG as Amber List (moderate evidence)",
"entity_name": "FLT3LG",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:18:51.673891+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: flt3lg has been classified as Amber List (Moderate Evidence).",
"entity_name": "FLT3LG",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:16:12.025090+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FLT3LG: Rating: AMBER; Mode of pathogenicity: None; Publications: 10828034, 38701783; Phenotypes: ?Immunodeficiency 125 MIM#620926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FLT3LG",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:01:00.939978+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.105",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CD28 as ready",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:01:00.922196+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.105",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cd28 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:00:49.438717+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.105",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CD28 as Amber List (moderate evidence)",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:00:49.426342+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.105",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cd28 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2024-11-11T18:00:07.319134+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CD28 was added\ngene: CD28 was added to Combined Immunodeficiency. Sources: Expert list\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 Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901\nReview for gene: CD28 was set to AMBER\nAdded comment: A single family reported and supporting mouse model. IUIS IEI committee classify the gene as a Combined immunodeficiency with associated or syndromic features. \nSources: Expert list",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2024-11-11T16:52:19.513038+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNFSF9 as ready",
"entity_name": "TNFSF9",
"entity_type": "gene"
},
{
"created": "2024-11-11T16:52:19.494443+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfsf9 has been classified as Red List (Low Evidence).",
"entity_name": "TNFSF9",
"entity_type": "gene"
},
{
"created": "2024-11-11T16:52:09.411354+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFSF9 was added\ngene: TNFSF9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TNFSF9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNFSF9 were set to 35657354\nPhenotypes for gene: TNFSF9 were set to Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related\nReview for gene: TNFSF9 was set to RED\nAdded comment: Fournier et al. described one patient with DiGeorge syndrome with a unique susceptibility to EBV with broad EBV infection and smooth muscle tumors. He was found to have a homozygous missense variant (p.V140G) in TNFSF9 coding for CD137L/4-1BBL, the ligand of the T cell co-stimulatory molecule CD137/4-1BB, whose deficiency predisposes to EBV infection.\r\n\r\nThey show that CD137LV140G mutant was weakly expressed on patient cells or when ectopically expressed in HEK and P815 cells. Importantly, patient EBV-infected B cells failed to trigger the expansion of EBV-specific T cells, resulting in decreased T cell effector responses. T cell expansion was recovered when CD137L expression was restored on B cells. \nSources: Literature",
"entity_name": "TNFSF9",
"entity_type": "gene"
},
{
"created": "2024-11-11T16:50:48.549222+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Fournier et al. described one patient with DiGeorge syndrome with a unique susceptibility to EBV with broad EBV infection and smooth muscle tumors. He was found to have a homozygous missense mutation (p.V140G) in TNFSF9 coding for CD137L/4-1BBL, the ligand of the T cell co-stimulatory molecule CD137/4-1BB, whose deficiency predisposes to EBV infection.\r\n\r\nThey show that CD137LV140G mutant was weakly expressed on patient cells or when ectopically expressed in HEK and P815 cells. Importantly, patient EBV-infected B cells failed to trigger the expansion of EBV-specific T cells, resulting in decreased T cell effector responses. T cell expansion was recovered when CD137L expression was restored on B cells. \nSources: Literature; to: Fournier et al. described one patient with DiGeorge syndrome with a unique susceptibility to EBV with broad EBV infection and smooth muscle tumors. He was found to have a homozygous missense variant (p.V140G) in TNFSF9 coding for CD137L/4-1BBL, the ligand of the T cell co-stimulatory molecule CD137/4-1BB, whose deficiency predisposes to EBV infection.\r\n\r\nThey show that CD137LV140G mutant was weakly expressed on patient cells or when ectopically expressed in HEK and P815 cells. Importantly, patient EBV-infected B cells failed to trigger the expansion of EBV-specific T cells, resulting in decreased T cell effector responses. T cell expansion was recovered when CD137L expression was restored on B cells. \r\nSources: Literature",
"entity_name": "TNFSF9",
"entity_type": "gene"
},
{
"created": "2024-11-11T16:50:27.462243+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNFSF9 as ready",
"entity_name": "TNFSF9",
"entity_type": "gene"
},
{
"created": "2024-11-11T16:50:27.450370+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfsf9 has been classified as Red List (Low Evidence).",
"entity_name": "TNFSF9",
"entity_type": "gene"
},
{
"created": "2024-11-11T16:50:19.646860+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFSF9 was added\ngene: TNFSF9 was added to Susceptibility to Viral Infections. Sources: Literature\nMode of inheritance for gene: TNFSF9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNFSF9 were set to 35657354\nPhenotypes for gene: TNFSF9 were set to Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related\nReview for gene: TNFSF9 was set to RED\nAdded comment: Fournier et al. described one patient with DiGeorge syndrome with a unique susceptibility to EBV with broad EBV infection and smooth muscle tumors. He was found to have a homozygous missense mutation (p.V140G) in TNFSF9 coding for CD137L/4-1BBL, the ligand of the T cell co-stimulatory molecule CD137/4-1BB, whose deficiency predisposes to EBV infection.\r\n\r\nThey show that CD137LV140G mutant was weakly expressed on patient cells or when ectopically expressed in HEK and P815 cells. Importantly, patient EBV-infected B cells failed to trigger the expansion of EBV-specific T cells, resulting in decreased T cell effector responses. T cell expansion was recovered when CD137L expression was restored on B cells. \nSources: Literature",
"entity_name": "TNFSF9",
"entity_type": "gene"
},
{
"created": "2024-11-11T16:45:24.560272+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOA4 as ready",
"entity_name": "APOA4",
"entity_type": "gene"
},
{
"created": "2024-11-11T16:45:24.550869+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apoa4 has been classified as Green List (High Evidence).",
"entity_name": "APOA4",
"entity_type": "gene"
},
{
"created": "2024-11-11T16:45:15.648593+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: APOA4 as Green List (high evidence)",
"entity_name": "APOA4",
"entity_type": "gene"
},
{
"created": "2024-11-11T16:45:15.637267+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apoa4 has been classified as Green List (High Evidence).",
"entity_name": "APOA4",
"entity_type": "gene"
},
{
"created": "2024-11-11T16:44:55.640133+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APOA4 was added\ngene: APOA4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: APOA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: APOA4 were set to 38096951\nPhenotypes for gene: APOA4 were set to Hereditary amyloidosis, MONDO:0018634, APOA4-related\nReview for gene: APOA4 was set to GREEN\nAdded comment: 5 families with autosomal dominant medullary amyloidosis. WGS/WES identified 2 different variants in the APOA4 gene (p.D33N in 3 families and p.L66V in 2 families). The variants were absent in gnomAD, located at the structurally flexible N-terminal domain of APOA4, and segregated with disease. There were 48 genotype +ve individuals with 44/48 having an eGFR <60. All clinically affected individuals presented with a bland urinary sediment, CKD, and no clinical evidence of systemic amyloidosis. Mean age of dialysis/transplantation was 58+/-11yrs. Routine kidney biopsies limited to the kidney cortex showed tubulointerstitial fibrosis and secondary glomerulosclerosis and no amyloid deposition. Four affected individuals were shown to have isolated medullary deposition of amyloid, with mass spectrometry showing the mutated Apoa4 as the primary constituent in 3 available cases. Plasma total ApoA4 levels were increased for patients (n=15) with ApoA4 mutations versus controls (n=49). They hypothesize that the amino acid substitutions alter the tertiary or quaternary structure of the mutated ApoA4, leading to increased plasma and primary urine concentrations and isolated medullary amyloid deposition. \nSources: Literature",
"entity_name": "APOA4",
"entity_type": "gene"
},
{
"created": "2024-11-11T16:42:34.695465+11:00",
"panel_name": "Amyloidosis",
"panel_id": 191,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOA4 as ready",
"entity_name": "APOA4",
"entity_type": "gene"
},
{
"created": "2024-11-11T16:42:34.671788+11:00",
"panel_name": "Amyloidosis",
"panel_id": 191,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apoa4 has been classified as Green List (High Evidence).",
"entity_name": "APOA4",
"entity_type": "gene"
},
{
"created": "2024-11-11T16:42:31.510984+11:00",
"panel_name": "Amyloidosis",
"panel_id": 191,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOA4 were changed from Autosomal dominant renal medullary amyloidosis to Hereditary amyloidosis, MONDO:0018634, APOA4-related",
"entity_name": "APOA4",
"entity_type": "gene"
},
{
"created": "2024-11-11T10:50:12.053366+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TYMP as ready",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2024-11-11T10:50:12.031777+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tymp has been classified as Green List (High Evidence).",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2024-11-11T10:48:45.705745+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TYMP were changed from Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041 to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2024-11-11T10:48:06.730382+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TYMP were changed from to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2024-11-11T10:47:01.394601+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TYMP were set to ",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2024-11-11T10:46:03.017191+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TYMP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2024-11-11T09:13:19.529165+11:00",
"panel_name": "Amyloidosis",
"panel_id": 191,
"panel_version": "0.30",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: APOA4 as Green List (high evidence)",
"entity_name": "APOA4",
"entity_type": "gene"
},
{
"created": "2024-11-11T09:13:19.518943+11:00",
"panel_name": "Amyloidosis",
"panel_id": 191,
"panel_version": "0.30",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: apoa4 has been classified as Green List (High Evidence).",
"entity_name": "APOA4",
"entity_type": "gene"
},
{
"created": "2024-11-11T09:12:44.561091+11:00",
"panel_name": "Amyloidosis",
"panel_id": 191,
"panel_version": "0.29",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: APOA4 was added\ngene: APOA4 was added to Amyloidosis. Sources: Literature\nMode of inheritance for gene: APOA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: APOA4 were set to PMID: 38096951\nPhenotypes for gene: APOA4 were set to Autosomal dominant renal medullary amyloidosis\nReview for gene: APOA4 was set to GREEN\nAdded comment: 5 families with autosomal dominant medullary amyloidosis. WGS/WES identified 2 different variants in the APOA4 gene (p.D33N in 3 families and p.L66V in 2 families). The variants were absent in gnomAD, located at the structurally flexible N-terminal domain of APOA4, and segregated with disease. There were 48 genotype +ve individuals with 44/48 having an eGFR <60. All clinically affected individuals presented with a bland urinary sediment, CKD, and no clinical evidence of systemic amyloidosis. Mean age of dialysis/transplantation was 58+/-11yrs. Routine kidney biopsies limited to the kidney cortex showed tubulointerstitial fibrosis and secondary glomerulosclerosis and no amyloid deposition. Four affected individuals were shown to have isolated medullary deposition of amyloid, with mass spectrometry showing the mutated Apoa4 as the primary constituent in 3 available cases.\r\nPlasma total ApoA4 levels were increased for patients (n=15) with ApoA4 mutations versus controls (n=49). They hypothesize that the amino acid substitutions alter the tertiary or quaternary structure of the mutated ApoA4, leading to increased plasma and primary urine concentrations and isolated medullary amyloid deposition. \nSources: Literature",
"entity_name": "APOA4",
"entity_type": "gene"
},
{
"created": "2024-11-11T09:08:19.719050+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DSG1 as ready",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2024-11-11T09:08:19.706415+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dsg1 has been classified as Green List (High Evidence).",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2024-11-11T09:05:50.511422+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DSG1 as Green List (high evidence)",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2024-11-11T09:05:50.496147+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dsg1 has been classified as Green List (High Evidence).",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2024-11-11T09:01:33.586845+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.101",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DSG1 was added\ngene: DSG1 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: DSG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DSG1 were set to 23974871; 32126589; 29604126\nPhenotypes for gene: DSG1 were set to severe dermatitis-multiple allergies-metabolic wasting syndrome\tMONDO:0014218",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2024-11-10T19:21:12.239758+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: STAT6 as ready",
"entity_name": "STAT6",
"entity_type": "gene"
},
{
"created": "2024-11-10T19:21:12.222545+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: stat6 has been classified as Green List (High Evidence).",
"entity_name": "STAT6",
"entity_type": "gene"
},
{
"created": "2024-11-10T19:21:08.607231+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: STAT6 as Green List (high evidence)",
"entity_name": "STAT6",
"entity_type": "gene"
},
{
"created": "2024-11-10T19:21:08.598567+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: stat6 has been classified as Green List (High Evidence).",
"entity_name": "STAT6",
"entity_type": "gene"
},
{
"created": "2024-11-10T19:20:33.192784+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.99",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: STAT6 was added\ngene: STAT6 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: STAT6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: STAT6 were set to 36884218; 36758835\nPhenotypes for gene: STAT6 were set to hyper-IgE syndrome MONDO:0018037\nMode of pathogenicity for gene: STAT6 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: STAT6 was set to GREEN\ngene: STAT6 was marked as current diagnostic\nAdded comment: Gain of function variants cause early-onset allergies. IUIS IEI committee classify this gene as a Combined immunodeficiency with associated or syndromic features. \nSources: Expert list",
"entity_name": "STAT6",
"entity_type": "gene"
},
{
"created": "2024-11-10T18:41:17.569410+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.98",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RECQL4 as ready",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2024-11-10T18:41:17.550133+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.98",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: recql4 has been classified as Green List (High Evidence).",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2024-11-10T18:39:37.979378+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.98",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RECQL4 as Green List (high evidence)",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2024-11-10T18:39:37.966656+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.98",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: recql4 has been classified as Green List (High Evidence).",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2024-11-10T18:38:57.217474+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.97",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RECQL4 was added\ngene: RECQL4 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RECQL4 were set to 21143835; 26064716\nPhenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome MONDO:0010002\nReview for gene: RECQL4 was set to GREEN\ngene: RECQL4 was marked as current diagnostic\nAdded comment: Immunodeficiency can be a feature of RTS, but is not always present. IUIS IEI committee classify this gene as a Combined immunodeficiency with associated or syndromic features. \nSources: Expert list",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2024-11-10T18:15:23.778251+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.96",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: POLA1 as ready",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2024-11-10T18:15:23.766665+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.96",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pola1 has been classified as Green List (High Evidence).",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2024-11-10T18:15:18.239633+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.96",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POLA1 as Green List (high evidence)",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2024-11-10T18:15:18.226487+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.96",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pola1 has been classified as Green List (High Evidence).",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2024-11-10T18:14:38.387801+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.95",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLA1 was added\ngene: POLA1 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: POLA1 were set to 27019227\nPhenotypes for gene: POLA1 were set to X-linked reticulate pigmentary disorder MONDO:0010523\nReview for gene: POLA1 was set to GREEN\ngene: POLA1 was marked as current diagnostic\nAdded comment: An intronic variant that alters splicing causes a combined primary immunodeficiency with autoinflammatory features. IUIS IEI committee classifies the gene as a Combined immunodeficiency with associated or syndromic features. \nSources: Expert list",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2024-11-10T18:03:23.759218+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.94",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MCM10 as ready",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2024-11-10T18:03:23.749326+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.94",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mcm10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2024-11-10T18:03:19.841481+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.94",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MCM10 as Amber List (moderate evidence)",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2024-11-10T18:03:19.830701+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.94",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mcm10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2024-11-10T18:02:47.917173+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.93",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MCM10 was added\ngene: MCM10 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: MCM10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCM10 were set to Immunodeficiency 80 with or without congenital cardiomyopathy MONDO:0030266\nReview for gene: MCM10 was set to AMBER\nAdded comment: 2 families reported with supporting functional studies\r\nModerate gene-disease classification - https://search.clinicalgenome.org/CCID:008284 \nSources: Expert list",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2024-11-10T16:32:09.348514+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSHZ3 as ready",
"entity_name": "TSHZ3",
"entity_type": "gene"
},
{
"created": "2024-11-10T16:32:09.333685+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tshz3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TSHZ3",
"entity_type": "gene"
},
{
"created": "2024-11-10T16:32:04.245770+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TSHZ3 as Amber List (moderate evidence)",
"entity_name": "TSHZ3",
"entity_type": "gene"
}
]
}