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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=673",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=671",
"results": [
{
"created": "2022-12-09T09:19:39.573733+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FZR1 were changed from Developmental and epileptic encephalopathy, FZR1-related, MONDO:0100062 to Developmental and epileptic encephalopathy 109, MIM# 620145",
"entity_name": "FZR1",
"entity_type": "gene"
},
{
"created": "2022-12-09T09:18:52.703684+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FZR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 109, MIM# 620145; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FZR1",
"entity_type": "gene"
},
{
"created": "2022-12-09T09:18:09.721454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FZR1 were changed from Developmental and epileptic encephalopathy, FZR1-related, MONDO:0100062 to Developmental and epileptic encephalopathy 109, MIM# 620145",
"entity_name": "FZR1",
"entity_type": "gene"
},
{
"created": "2022-12-09T09:17:44.305883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FZR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 109, MIM# 620145; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FZR1",
"entity_type": "gene"
},
{
"created": "2022-12-08T18:07:59.512694+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL7R as ready",
"entity_name": "IL7R",
"entity_type": "gene"
},
{
"created": "2022-12-08T18:07:59.498038+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il7r has been classified as Green List (High Evidence).",
"entity_name": "IL7R",
"entity_type": "gene"
},
{
"created": "2022-12-08T18:07:50.569118+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: IL7R.\nTag immunological tag was added to gene: IL7R.",
"entity_name": "IL7R",
"entity_type": "gene"
},
{
"created": "2022-12-08T18:07:36.582538+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IL7R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL7R",
"entity_type": "gene"
},
{
"created": "2022-12-08T18:05:41.950282+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL2RG as ready",
"entity_name": "IL2RG",
"entity_type": "gene"
},
{
"created": "2022-12-08T18:05:41.936370+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il2rg has been classified as Green List (High Evidence).",
"entity_name": "IL2RG",
"entity_type": "gene"
},
{
"created": "2022-12-08T18:05:30.326664+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL2RG: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IL2RG",
"entity_type": "gene"
},
{
"created": "2022-12-08T18:03:26.373290+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: IL2RG.\nTag immunological tag was added to gene: IL2RG.",
"entity_name": "IL2RG",
"entity_type": "gene"
},
{
"created": "2022-12-08T18:03:11.434871+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IL2RG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, X-linked MIM# 300400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL2RG",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:58:43.543591+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKBKG as ready",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:58:43.528819+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbkg has been classified as Amber List (Moderate Evidence).",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:58:31.345585+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti 1 to Immunodeficiency 33 (300636)",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:58:12.319977+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IKBKG as Amber List (moderate evidence)",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:58:12.305394+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbkg has been classified as Amber List (Moderate Evidence).",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:58:02.647805+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: IKBKG.\nTag treatable tag was added to gene: IKBKG.\nTag immunological tag was added to gene: IKBKG.",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:57:44.238994+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 33 (300636); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:55:07.161295+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: IGSF1.\nTag endocrine tag was added to gene: IGSF1.",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:54:53.236560+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGSF1 as ready",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:54:53.225179+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igsf1 has been classified as Green List (High Evidence).",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:54:45.348998+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGSF1 were changed from Central hypothyroidism and testicular enlargement to Hypothyroidism, central, and testicular enlargement, MIM# 300888",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:54:27.263597+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:49:27.303232+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: IGLL1.\nTag immunological tag was added to gene: IGLL1.",
"entity_name": "IGLL1",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:47:34.707127+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGLL1 as ready",
"entity_name": "IGLL1",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:47:34.694349+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igll1 has been classified as Green List (High Evidence).",
"entity_name": "IGLL1",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:47:24.676469+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 2, MIM# 613500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IGLL1",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:44:50.880023+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGHMBP2 as ready",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:44:50.866760+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ighmbp2 has been classified as Red List (Low Evidence).",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:44:46.903526+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGHMBP2 were changed from Spinal muscular atrophy with respiratory distress to Neuronopathy, distal hereditary motor, type VI, MIM# 604320; Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:44:33.904265+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IGHMBP2 as Red List (low evidence)",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:44:33.891554+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ighmbp2 has been classified as Red List (Low Evidence).",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2022-12-08T17:44:22.168109+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGHMBP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, type VI, MIM# 604320, Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2022-12-08T13:31:03.072631+11:00",
"panel_name": "Cardiomyopathy_Adult_SuperPanel",
"panel_id": 253,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from Cardiomyopathy; HP:0001638 to Cardiomyopathy; HP:0001638; Abnormality of the myocardium; HP:0001637",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-12-08T13:30:39.824394+11:00",
"panel_name": "Cardiomyopathy_Adult_SuperPanel",
"panel_id": 253,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from Cardiomyopathy, HP:0001638 to Cardiomyopathy, HP:0001638; Abnormality of the myocardium, HP:0001637",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-12-08T13:03:41.610905+11:00",
"panel_name": "Arrhythmia_SuperPanel",
"panel_id": 254,
"panel_version": "3.11",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Arrhythmia; HP:0011675",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-12-08T10:07:00.333145+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGHM as ready",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2022-12-08T10:07:00.317000+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ighm has been classified as Green List (High Evidence).",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2022-12-08T10:06:54.237639+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: IGHM.\nTag immunological tag was added to gene: IGHM.",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2022-12-08T10:06:39.836124+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGHM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 1, MIM# 601495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2022-12-08T10:00:46.778101+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A3R1 as ready",
"entity_name": "SLC9A3R1",
"entity_type": "gene"
},
{
"created": "2022-12-08T10:00:46.765605+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a3r1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC9A3R1",
"entity_type": "gene"
},
{
"created": "2022-12-08T10:00:41.057615+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: SLC9A3R1.",
"entity_name": "SLC9A3R1",
"entity_type": "gene"
},
{
"created": "2022-12-08T10:00:08.415265+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: SLC9A3R1.",
"entity_name": "SLC9A3R1",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:40:05.335208+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IDUA as ready",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:40:05.321676+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idua has been classified as Green List (High Evidence).",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:40:01.230309+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IDUA were changed from Mucopolysaccharidosis Ih, MIM#607014 to Mucopolysaccharidosis type 1, MONDO:0001586",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:39:46.942879+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: IDUA.\nTag metabolic tag was added to gene: IDUA.",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:39:30.342263+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type 1, MONDO:0001586; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:36:00.898919+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IDS as ready",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:36:00.886197+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ids has been classified as Green List (High Evidence).",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:35:57.407596+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IDS were changed from Mucopolysaccharidosis II to Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:35:38.773471+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: IDS.\nTag metabolic tag was added to gene: IDS.",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:34:37.924465+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: IDS.",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:34:34.795619+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IDS was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:33:01.368889+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IDS was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:32:21.146148+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IDS: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:31:55.971117+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IDS was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:31:34.906708+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IDS: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:31:09.795504+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IDS was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:30:40.888367+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: IDS.",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:30:32.165457+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IDS: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:30:07.138195+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IDS: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2022-12-08T09:29:31.502719+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2022-12-08T08:06:55.888684+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL10RA as ready",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2022-12-08T08:06:55.871542+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il10ra has been classified as Green List (High Evidence).",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2022-12-08T08:06:51.759638+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL10RA were changed from Inflammatory bowel disease, MIM#613148 to Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2022-12-08T08:06:38.325476+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: IL10RA.\nTag immunological tag was added to gene: IL10RA.",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2022-12-08T08:06:23.824227+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IL10RA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:57:40.200585+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INVS as ready",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:57:40.182866+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: invs has been classified as Red List (Low Evidence).",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:57:36.295309+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INVS were changed from Nephronophthisis 2 to Nephronophthisis 2, infantile, (MIM#602088)",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:57:23.157992+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: INVS as Red List (low evidence)",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:57:23.145929+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: invs has been classified as Red List (Low Evidence).",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:57:11.937712+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: INVS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 2, infantile, (MIM#602088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:56:07.490384+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IQCB1 as ready",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:56:07.477274+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqcb1 has been classified as Red List (Low Evidence).",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:56:04.033447+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IQCB1 were changed from Senior-Loken syndrome 5 to Senior-Loken syndrome 5, MIM# 609254",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:55:31.189459+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IQCB1 as Red List (low evidence)",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:55:31.175293+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqcb1 has been classified as Red List (Low Evidence).",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:55:18.735086+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IQCB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Senior-Loken syndrome 5, MIM# 609254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:53:49.714649+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRAK4 as ready",
"entity_name": "IRAK4",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:53:49.697174+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irak4 has been classified as Green List (High Evidence).",
"entity_name": "IRAK4",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:53:38.037686+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: IRAK4.\nTag immunological tag was added to gene: IRAK4.",
"entity_name": "IRAK4",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:53:23.653417+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IRAK4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 67, MIM# 607676; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IRAK4",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:51:31.471909+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRF6 as ready",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:51:31.458429+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf6 has been classified as Red List (Low Evidence).",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:51:25.334239+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRF6 were changed from van der Woude syndrome MIM# 119300 to Popliteal pterygium syndrome 1MIM#119500; van der Woude syndrome MIM#119300",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:51:09.546356+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF6 as Red List (low evidence)",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:51:09.535148+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf6 has been classified as Red List (Low Evidence).",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:50:57.735974+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IRF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Popliteal pterygium syndrome 1MIM#119500, van der Woude syndrome MIM#119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:49:47.222030+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ISPD as ready",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:49:47.202767+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ispd has been classified as Red List (Low Evidence).",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:49:35.546396+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:49:08.566913+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ISPD as Red List (low evidence)",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:49:08.554852+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ispd has been classified as Red List (Low Evidence).",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:48:54.612109+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ISPD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:47:36.103051+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGA3 as ready",
"entity_name": "ITGA3",
"entity_type": "gene"
}
]
}