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{
"count": 220759,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1259",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1257",
"results": [
{
"created": "2021-07-28T13:49:06.204470+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMTOR2 were changed from to Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798",
"entity_name": "LAMTOR2",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:48:42.305053+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMTOR2 were set to ",
"entity_name": "LAMTOR2",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:48:04.941802+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMTOR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMTOR2",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:45:47.796750+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMTOR2 as Amber List (moderate evidence)",
"entity_name": "LAMTOR2",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:45:47.784905+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamtor2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LAMTOR2",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:43:06.642259+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMTOR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17195838, 24092934; Phenotypes: Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMTOR2",
"entity_type": "gene"
},
{
"created": "2021-07-28T11:19:32.013881+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKZF3 as ready",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2021-07-28T11:19:32.004848+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2021-07-28T11:17:34.764611+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IKZF3 as Amber List (moderate evidence)",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2021-07-28T11:17:34.753925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2021-07-28T11:17:17.988177+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKZF3 as ready",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2021-07-28T11:17:17.977299+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2021-07-28T11:17:17.967329+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IKZF3 was added\ngene: IKZF3 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: IKZF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKZF3 were set to 34155405\nPhenotypes for gene: IKZF3 were set to Immunodeficiency 84, MIM# 619437\nReview for gene: IKZF3 was set to AMBER\nAdded comment: Single family reported where heterozygous missense variant in this gene segregated with immunodeficiency in a mother and two children. Findings included low levels of B cells and impaired early B-cell development, variable T-cell abnormalities, hypogammaglobulinaemia, increased susceptibility to infection with Epstein-Barr virus (EBV). One individual developed lymphoma in adulthood. Mouse model recapitulated phenotype. \nSources: Expert Review",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2021-07-28T11:17:06.400441+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IKZF3 as Amber List (moderate evidence)",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2021-07-28T11:17:06.390758+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2021-07-28T11:16:05.608440+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IKZF3 as Amber List (moderate evidence)",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2021-07-28T11:16:05.598163+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2021-07-28T11:10:23.984995+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IKZF3 was added\ngene: IKZF3 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: IKZF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKZF3 were set to 34155405\nPhenotypes for gene: IKZF3 were set to Immunodeficiency 84, MIM#\t619437\nReview for gene: IKZF3 was set to AMBER\nAdded comment: Single family reported where heterozygous missense variant in this gene segregated with immunodeficiency in a mother and two children. Findings included low levels of B cells and impaired early B-cell development, variable T-cell abnormalities, hypogammaglobulinaemia, increased susceptibility to infection with Epstein-Barr virus (EBV). One individual developed lymphoma in adulthood.\r\n\r\nMouse model recapitulated phenotype. \nSources: Literature",
"entity_name": "IKZF3",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:16:02.313455+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD17B4 as ready",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:16:02.302015+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b4 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:15:57.887955+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSD17B4 were changed from to D-bifunctional protein deficiency, AR (MIM#261515); Perrault syndrome 1, AR (MIM#233400)",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:15:23.727072+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSD17B4 were set to ",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:14:51.448773+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSD17B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:13:28.260255+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27790638; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515), Perrault syndrome 1, AR (MIM#233400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:12:28.311052+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD17B4 as ready",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:12:28.299099+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b4 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:12:17.889609+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSD17B4 were changed from to D-bifunctional protein deficiency, AR (MIM#261515); Perrault syndrome 1, AR (MIM#233400)",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:11:46.283964+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSD17B4 were set to ",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:11:21.812431+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSD17B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:10:49.177185+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27790638; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515), Perrault syndrome 1, AR (MIM#233400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:09:45.526788+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD17B4 as ready",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:09:45.516265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b4 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:09:38.694436+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSD17B4 were changed from to D-bifunctional protein deficiency, AR (MIM#261515); Perrault syndrome 1, AR (MIM#233400)",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:09:18.997732+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSD17B4 were set to ",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:09:00.623927+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSD17B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:08:32.320886+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515), Perrault syndrome 1, AR (MIM#233400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-07-27T17:24:10.702232+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8538",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27790638; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515), Perrault syndrome 1, AR (MIM#233400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:56:42.376578+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LCK as ready",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:56:42.365927+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lck has been classified as Amber List (Moderate Evidence).",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:56:32.633687+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ICOS as ready",
"entity_name": "ICOS",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:56:32.622363+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: icos has been classified as Green List (High Evidence).",
"entity_name": "ICOS",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:56:29.649208+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ICOS were changed from to Immunodeficiency, common variable, 1 MIM# 607594; recurrent bacterial respiratory/gastrointestinal infections; autoimmunity; gastroenteritis; low IgG/IgA; normal-low IgM; hypogammaglobulinaemia; low-normal B-cells; normal T-cells; Bronchitis; Lymphadenopathy; Hepatomegaly; Diarrhoea",
"entity_name": "ICOS",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:56:05.797147+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ICOS were set to ",
"entity_name": "ICOS",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:55:03.350170+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ICOS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ICOS",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:54:19.000595+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ICOS.",
"entity_name": "ICOS",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:53:12.464920+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LCK were changed from to Immunodeficiency 22 MIM# 615758; Recurrent infections; Immune dysregulation; autoimmunity; Low CD4+; low CD8+; restricted T cell repertoire; poor TCR signaling; Normal IgG/IgA; high IgM; failure to thrive; diarrhoea; lymphopaenia; hypogammaglobulinaemia; anaemia; thrombocytopaenia; CD4+ T-cell lymphopaenia",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:52:24.809389+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LCK were set to ",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:52:03.175436+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LCK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:51:52.547594+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LCK as Amber List (moderate evidence)",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:51:52.539386+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lck has been classified as Amber List (Moderate Evidence).",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:51:41.856115+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LCK as Amber List (moderate evidence)",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:51:41.847105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lck has been classified as Amber List (Moderate Evidence).",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:51:40.116791+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LCK as ready",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:51:40.106181+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lck has been classified as Amber List (Moderate Evidence).",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:51:22.143383+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LCK: Rating: AMBER; Mode of pathogenicity: None; Publications: 22985903, 1579166, 11021796; Phenotypes: Immunodeficiency 22 MIM# 615758, Recurrent infections, Immune dysregulation, autoimmunity, Low CD4+, low CD8+, restricted T cell repertoire, poor TCR signaling, Normal IgG/IgA, high IgM, failure to thrive, diarrhoea, lymphopenia, hypogammaglobulinemia, anaemia, thrombocytopaenia, CD4+ T-cell lymphopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:51:16.522762+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LCK were changed from to Immunodeficiency 22 MIM# 615758; Recurrent infections; Immune dysregulation; autoimmunity; Low CD4+; low CD8+; restricted T cell repertoire; poor TCR signaling; Normal IgG/IgA; high IgM; failure to thrive; diarrhoea; lymphopenia; hypogammaglobulinemia; anaemia; thrombocytopaenia; CD4+ T-cell lymphopenia",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:50:52.878696+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LCK were set to ",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:50:08.518242+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LCK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:49:59.627865+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOCK8 as ready",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:49:59.617623+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dock8 has been classified as Green List (High Evidence).",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:49:40.442839+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LCK as Amber List (moderate evidence)",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:49:40.432311+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lck has been classified as Amber List (Moderate Evidence).",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:48:07.066186+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOCK8 were changed from to Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700; T cell Lymphopaenia; decraese T/B/NK cells; Eosinophilia; low IgM; elevated IgE; recurrent cutaneous/ viral/ bacterial/ fungal/ infections; severe atopy/allergic disease; autoimmune haemolytic anaemia; eczema; cancer diathesis",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:47:26.802379+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DOCK8 were set to ",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:47:00.396081+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOCK8 as ready",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:47:00.382659+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dock8 has been classified as Green List (High Evidence).",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:46:57.795183+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOCK8 were changed from to Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700; T cell Lymphopaenia; decraese T/B/NK cells; Eosinophilia; low IgM; elevated IgE; recurrent cutaneous/ viral/ bacterial/ fungal/ infections; severe atopy/allergic disease; autoimmune haemolytic anaemia; eczema; cancer diathesis",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:46:57.139029+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DOCK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:46:34.585254+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DOCK8 were set to ",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:46:18.908219+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOCK2 as ready",
"entity_name": "DOCK2",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:46:18.895962+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dock2 has been classified as Green List (High Evidence).",
"entity_name": "DOCK2",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:46:08.479564+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DOCK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:46:03.430101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOCK2 were changed from to Immunodeficiency 40 MIM# 616433; T/B-cell lymphopaenia; early-onset invasive herpes/viral/bacterial Infections; function defects in T/B/NK cells; immunodeficiency; defective IFN-mediated immunity; elevated IgM; normal IgG/IgA levels",
"entity_name": "DOCK2",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:45:30.656766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DOCK2 were set to ",
"entity_name": "DOCK2",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:45:14.068816+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DOCK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK2",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:44:54.848785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DOCK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26083206, 29204803, 33928462, 30826364, 30838481, 11518968; Phenotypes: Immunodeficiency 40 MIM# 616433, T/B-cell lymphopaenia, early-onset invasive herpes/viral/bacterial Infections, function defects in T/B/NK cells, immunodeficiency, defective IFN-mediated immunity, elevated IgM, normal IgG/IgA levels; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK2",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:44:30.218862+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8527",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 19776401, 20622910, 21931011, 26659092, 19898472, 25422492; Phenotypes: Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700, T cell Lymphopaenia, decraese T/B/NK cells, Eosinophilia, low IgM, elevated IgE, recurrent cutaneous/ viral/ bacterial/ fungal/ infections, severe atopy/allergic disease, autoimmune haemolytic anaemia, eczema, cancer diathesisc; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:44:03.388135+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOCK2 as ready",
"entity_name": "DOCK2",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:44:03.375671+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dock2 has been classified as Green List (High Evidence).",
"entity_name": "DOCK2",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:44:01.060275+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOCK2 were changed from to Immunodeficiency 40 MIM# 616433; T/B-cell lymphopaenia; early-onset invasive herpes/viral/bacterial Infections; function defects in T/B/NK cells; immunodeficiency; defective IFN-mediated immunity; elevated IgM; normal IgG/IgA levels",
"entity_name": "DOCK2",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:43:39.290048+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DOCK2 were set to ",
"entity_name": "DOCK2",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:43:07.464342+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DOCK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK2",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:40:40.066205+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNMT3B as ready",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:40:40.055469+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnmt3b has been classified as Green List (High Evidence).",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:40:30.238737+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT3B were changed from to Immunodeficiency-centromeric instability-facial anomalies syndrome 1 MIM# 242860; facial dysmorphic features; flat nasal bridge; developmental delay; macroglossia; bacterial/opportunistic infections (recurrent); malabsorption; cytopaenia; malignancies; multiradial configurations of chromosomes 1, 9, 16; Hypogammaglobulinaemia; agammaglobulinaemia; variable antibody deficiency; decreased immunoglobulin production; low T/B/NK cells",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:40:23.573758+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.68",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20587527, 10555141, 17359920, 9718351, 10647011, 11102980, 12239717; Phenotypes: mmunodeficiency-centromeric instability-facial anomalies syndrome 1 MIM# 242860, facial dysmorphic features, flat nasal bridge, developmental delay, macroglossia, bacterial/opportunistic infections (recurrent), malabsorption, cytopaenia, malignancies, multiradial configurations of chromosomes 1, 9, 16, Hypogammaglobulinaemia, agammaglobulinaemia, variable antibody deficiency, decreased immunoglobulin production, low T/B/NK cells; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:40:09.689395+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNMT3B were set to ",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:39:50.378323+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNMT3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:39:32.236613+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20587527, 10555141, 17359920, 9718351, 10647011, 11102980, 12239717; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 MIM# 242860, facial dysmorphic features, flat nasal bridge, developmental delay, macroglossia, bacterial/opportunistic infections (recurrent), malabsorption, cytopaenia, malignancies, multiradial configurations of chromosomes 1, 9, 16, Hypogammaglobulinaemia, agammaglobulinaemia, variable antibody deficiency, decreased immunoglobulin production, low T/B/NK cells; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:35:35.151036+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNMT3B as ready",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:35:35.137759+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnmt3b has been classified as Green List (High Evidence).",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:35:32.025115+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT3B were changed from to Immunodeficiency-centromeric instability-facial anomalies syndrome 1 MIM# 242860; facial dysmorphic features; flat nasal bridge; developmental delay; macroglossia; bacterial/opportunistic infections (recurrent); malabsorption; cytopaenia; malignancies; multiradial configurations of chromosomes 1, 9, 16; Hypogammaglobulinaemia; agammaglobulinaemia; variable antibody deficiency; decreased immunoglobulin production; low T/B/NK cells",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:35:07.386501+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNMT3B were set to ",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-07-27T16:34:38.689484+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNMT3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-07-27T15:46:47.947398+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.232",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "changed review comment from: 15 affected individuals from 8 unrelated families reported with ICOS variants and displayed immunodeficiency, common variable, 1 phenotype; three mouse models.\r\n \r\nHomozygous and compound heterozygous deletion and missense variants, with the most frequent variant being a 442 nucleotide deletion.\r\n\r\nPatients typically presented with recurrent bacterial respiratory & gastrointestinal infections and low IgG/IgA. However, phenotypic expression is highly variable, with some individuals only displaying immunological phenotypes.; to: 15 affected individuals from 8 unrelated families reported with ICOS variants and displayed immunodeficiency, common variable, 1 phenotype; three mouse models.\r\n \r\nHomozygous and compound heterozygous deletion and missense variants, with the most frequent variant being a 442 nucleotide deletion.\r\n\r\nPatients typically presented with recurrent bacterial respiratory & gastrointestinal infections and low IgG/IgA. However, phenotypic expression is highly variable, with some individuals only displaying immunological phenotypes.",
"entity_name": "ICOS",
"entity_type": "gene"
},
{
"created": "2021-07-27T15:46:27.992658+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.232",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: ICOS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12577056, 15507387, 19380800, 28861081, 31858365, 11343122, 16982935; Phenotypes: Immunodeficiency, common variable, 1 MIM# 607594, recurrent bacterial respiratory/gastrointestinal infections, autoimmunity, gastroenteritis, low IgG/IgA, normal-low IgM, hypogammaglobulinaemia, low-normal B-cells, normal T-cells, Bronchitis, Lymphadenopathy, Hepatomegaly, Diarrhoea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ICOS",
"entity_type": "gene"
},
{
"created": "2021-07-27T13:19:41.021217+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.232",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: LCK: Rating: AMBER; Mode of pathogenicity: None; Publications: 22985903, 1579166, 11021796; Phenotypes: Immunodeficiency 22 MIM# 615758, Recurrent infections, Immune dysregulation, autoimmunity, Low CD4+, low CD8+, restricted T cell repertoire, poor TCR signaling, Normal IgG/IgA, high IgM, failure to thrive, diarrhoea, lymphopenia, hypogammaglobulinemia, anaemia, thrombocytopaenia, CD4+ T-cell lymphopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2021-07-27T11:52:25.654426+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.232",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 19776401, 20622910, 21931011, 26659092, 19898472, 25422492; Phenotypes: Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700, T cell Lymphopaenia, decraese T/B/NK cells, Eosinophilia, low IgM, elevated IgE, recurrent cutaneous/ viral/ bacterial/ fungal/ infections, severe atopy/allergic disease, autoimmune haemolytic anaemia, eczema, cancer diathesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2021-07-27T11:47:41.590412+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.232",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: DOCK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26083206, 29204803, 33928462, 30826364, 30838481, 11518968; Phenotypes: Immunodeficiency 40 MIM# 616433, T/B-cell lymphopaenia, early-onset invasive herpes/viral/bacterial Infections, function defects in T/B/NK cells, immunodeficiency, defective IFN-mediated immunity, elevated IgM, normal IgG/IgA levels; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK2",
"entity_type": "gene"
},
{
"created": "2021-07-27T11:21:27.207134+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8524",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TMPO as ready",
"entity_name": "TMPO",
"entity_type": "gene"
}
]
}