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{
"count": 221303,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=677",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=675",
"results": [
{
"created": "2022-12-06T18:23:22.564216+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B3GLCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:22:27.461925+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPM3 as ready",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:22:27.448649+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpm3 has been classified as Red List (Low Evidence).",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:22:23.894428+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPM3 were changed from Nemaline myopathy; Congenital fiber-type disproportion myopathy to CAP myopathy 1, MIM# 609284; Myopathy, congenital, with fiber-type disproportion, MIM# 255310; Nemaline myopathy 1, autosomal dominant or recessive, MIM# 609284",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:21:31.464144+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPM3 were set to ",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:21:15.123593+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TPM3 as Red List (low evidence)",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:21:15.103711+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpm3 has been classified as Red List (Low Evidence).",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:20:49.412198+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP1S1 as ready",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:20:49.398418+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1s1 has been classified as Green List (High Evidence).",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:20:44.294823+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP1S1 were changed from to MEDNIK syndrome, MIM# 609313",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:20:06.268294+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP1S1 were set to 30244301; 24754424; 19057675; 23423674",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:19:42.012142+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP1S1 were set to ",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:19:05.931785+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP1S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:17:46.811267+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASAH1 as ready",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:17:46.798593+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asah1 has been classified as Green List (High Evidence).",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:17:08.035444+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASAH1 were changed from to Farber lipogranulomatosis MIM #228000",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:16:32.422542+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASAH1 were set to ",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:15:36.801306+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:14:58.513604+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1166",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC26A3 as ready",
"entity_name": "SLC26A3",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:14:58.490307+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1166",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc26a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC26A3",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:14:51.364224+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1166",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC26A3 were changed from Chloride diarrhea, congenital, Finnish type to Diarrhoea 1, secretory chloride, congenital, MIM# 214700",
"entity_name": "SLC26A3",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:14:36.276250+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPM1 as ready",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:14:36.261662+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpm1 has been classified as Green List (High Evidence).",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:14:30.723958+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPM1 were changed from to Congenital disorder of glycosylation, type Ie, MIM# 608799",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:14:26.520598+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1165",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhoea 1, secretory chloride, congenital, MIM# 214700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC26A3",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:13:55.905194+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DPM1 were set to 10642602; 23856421; 16641202; 15669674; 10642597",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:13:32.763801+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DPM1 were set to ",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:12:56.326150+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DPM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:10:13.664431+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1165",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC26A2 as ready",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:10:13.649655+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1165",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc26a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:09:59.668954+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG1 were changed from Combined immunodeficiency; Lymphopaenia; Hypogammaglobulinaemia; Recurrent bacterial and viral infections; Growth retardation; Sun sensitivity, radiation sensitivity; Macrocytosis to Immunodeficiency 96, MIM# 619774; Lymphopaenia; Hypogammaglobulinaemia; Recurrent bacterial and viral infections; Growth retardation; Sun sensitivity, radiation sensitivity; Macrocytosis",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:09:59.480726+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1165",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SLC26A2.",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:09:40.937765+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1165",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC26A2 were changed from Achondrogenesis 1B to Achondrogenesis 1B, MIM#600972",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:09:20.457043+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1164",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC26A2 as Red List (low evidence)",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:09:20.444903+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1164",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc26a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2022-12-06T18:08:52.929326+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1163",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC26A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Achondrogenesis 1B, MIM#600972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2022-12-06T17:42:20.943598+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1163",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC25A4 as ready",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-12-06T17:42:20.930142+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1163",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc25a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-12-06T17:41:29.582463+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1163",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A4 were changed from Progressive external ophthalmoplegia to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-12-06T17:41:08.658152+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1162",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-12-06T17:40:47.441849+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1161",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC25A4 as Red List (low evidence)",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-12-06T17:40:47.429564+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1161",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc25a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-12-06T17:40:26.511611+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1160",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-12-06T16:30:04.012873+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CENPF as ready",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2022-12-06T16:30:03.998505+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cenpf has been classified as Green List (High Evidence).",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2022-12-06T16:29:58.130513+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CENPF were changed from to Stromme syndrome (MIM#243605)",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2022-12-06T16:29:04.612052+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CENPF were set to ",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2022-12-06T16:27:26.801434+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CENPF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2022-12-06T16:21:18.411642+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:58:22.503609+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NLGN4X as Amber List (moderate evidence)",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:58:22.491558+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlgn4x has been classified as Amber List (Moderate Evidence).",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:56:39.791363+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NLGN4X as ready",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:56:39.765344+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlgn4x has been classified as Amber List (Moderate Evidence).",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:55:19.822733+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NLGN4X as Amber List (moderate evidence)",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:55:19.810205+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlgn4x has been classified as Amber List (Moderate Evidence).",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:54:43.130637+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NLGN4X: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked - MIM#300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:52:48.334116+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NLGN4X as ready",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:52:48.321012+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Definitive assessment by ClinGen noted, as well as 'limited' assessments by G2P and Genomics England. Many of the variants are multi-gene deletions; phenotypes are not well delineated, with several individuals not having ID.",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:52:48.278829+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlgn4x has been classified as Amber List (Moderate Evidence).",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:48:18.412810+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NLGN4X were set to 12669065; 18231125; 10071191; 29428674",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:40:14.647629+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NLGN4X as Amber List (moderate evidence)",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:40:14.635637+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlgn4x has been classified as Amber List (Moderate Evidence).",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:02:37.035949+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1160",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC16A1 as ready",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:02:37.016396+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1160",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc16a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:02:23.263247+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1160",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SLC16A1 were set to ",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:01:38.242699+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1159",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SLC16A1.",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:01:24.989203+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1159",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC16A1 as Amber List (moderate evidence)",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:01:24.975292+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1159",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc16a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-12-06T15:01:06.383602+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1158",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC16A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301549; Phenotypes: Monocarboxylate transporter 1 deficiency, MIM# 616095; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-12-06T14:48:58.592891+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1158",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC13A5 as Amber List (moderate evidence)",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2022-12-06T14:48:58.576823+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1158",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc13a5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2022-12-06T14:48:40.526122+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1157",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC13A5 was added\ngene: SLC13A5 was added to gNBS. Sources: Literature\nfor review tags were added to gene: SLC13A5.\nMode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC13A5 were set to 29895383\nPhenotypes for gene: SLC13A5 were set to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905\nReview for gene: SLC13A5 was set to AMBER\nAdded comment: Established gene-disease association.\r\n\r\nChildhood onset, neurological condition\r\n\r\nTreatment: Ketogenic diet, stiripentol effective in one study of three related patients\r\n\r\nNon-genetic confirmatory test: plasma and CSF citrate levels \nSources: Literature",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2022-12-06T14:39:09.511340+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1156",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC25A38 as ready",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2022-12-06T14:39:09.499145+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1156",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc25a38 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2022-12-06T14:39:00.575327+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1156",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A38 were changed from Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2022-12-06T14:38:38.121924+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1155",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2022-12-06T14:36:03.743976+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1155",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC25A20 as ready",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-12-06T14:36:03.728527+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1155",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc25a20 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-12-06T14:35:41.537597+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1155",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SLC25A20 were set to ",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-12-06T14:34:51.554050+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-12-06T12:58:50.711224+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "edited their review of gene: TNFRSF11A: Changed rating: GREEN",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2022-12-06T12:58:33.682772+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "changed review comment from: strong gene disease association \r\nInfant onset osteopetrosis and immunodeficiency \r\nNo treatment \r\n\r\n\r\n\r\nNB AD phenotype has later onset; to: strong gene disease association \r\nInfant onset osteopetrosis and immunodeficiency \r\nTreatment bone marrow transplant \r\n\r\n\r\n\r\nNB AD phenotype has later onset",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2022-12-06T12:57:10.013461+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "changed review comment from: Strong gene disease association (gene also known as RANKL)\r\nInfant, early childhood onset increased bone density, lack of bone marrow cavity, stunted growth, macrocephaly, progressive deafness, blindness, hepatosplenomegaly, and severe anemia. \r\nNo treatment; to: Strong gene disease association (gene also known as RANKL)\r\nInfant, early childhood onset increased bone density, lack of bone marrow cavity, stunted growth, macrocephaly, progressive deafness, blindness, hepatosplenomegaly, and severe anemia. \r\nNo treatment",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2022-12-06T12:54:15.634955+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TNFRSF11A: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 36031188, PMID: 35812760; Phenotypes: Osteopetrosis, autosomal recessive 7 - MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2022-12-06T12:44:46.614646+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TNFRSF11B: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25108083, PMID: 34166796, PMID: 29080812; Phenotypes: Paget disease of bone 5, juvenile-onset MIM#239000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNFRSF11B",
"entity_type": "gene"
},
{
"created": "2022-12-06T12:30:07.944140+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "edited their review of gene: TNFSF11: Changed rating: RED",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2022-12-06T12:29:49.957841+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TNFSF11: Rating: ; Mode of pathogenicity: None; Publications: PMID:17632511, PMID: 36031188, PMID: 32940787; Phenotypes: Osteopetrosis, autosomal recessive 2 MIM#259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2022-12-06T12:18:21.874766+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TNNI2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34502093; Phenotypes: Arthrogryposis, distal, type 2B1 MIM#601680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNNI2",
"entity_type": "gene"
},
{
"created": "2022-12-06T12:16:40.973434+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.186",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NLGN4X was added\ngene: NLGN4X was added to Autism. Sources: Expert list\nMode of inheritance for gene: NLGN4X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: NLGN4X were set to PMID:26350204; PMID:14963808; PMID:12669065; PMID:23352163; PMID:28263302; PMID:16648374\nPhenotypes for gene: NLGN4X were set to Intellectual developmental disorder, X-linked - MIM#300495\nReview for gene: NLGN4X was set to GREEN\nAdded comment: ClinGen ID/Autism GCEP 1/8/2018: Definitive association. Decision was made to lump into X-linked complex neurodevelopmental disorder encompassing autism spectrum disorders, intellectual disability, attention deficit hyperactivity disorder (ADHD), and/or cerebral palsy phenotypes.\r\n\r\nClinvar P/LP SNV's identified through clinical testing entries reviewed:\r\nc.1747C>T (p.Arg583Trp) - dev delay, ASD, ADHD, cardiac defects, dysmorphism\r\nc.625+1G>A - no disease assertion provided (2022 entry)\r\nc.334dup (p.Gln112fs) - no clinical information\r\nc.301C>T (p.Arg101Ter) - 3 entries - x1 ASD susceptibility disease assertion - reported in an individual with BCS1L variant also who had short stature, failure to thrive, rickets, Fanconi syndrome, delayed motor milestones, absent speech, developmental regression, intellectual disability, hypotonia, seizure disorder, gait ataxia, abnormal movements (laughing behavior and tongue protrusion), dysmorphic features, microcephaly, history of seizure disorder.\r\n\r\nDecipher - LP c.456C>G; p.Tyr152Ter - Cited in the literature PMID 26350204 - male XY with ID. \nSources: Expert list",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2022-12-06T12:16:25.836297+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.532",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NLGN4X: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:26350204, PMID:14963808, PMID:12669065, PMID:23352163, PMID:28263302, PMID:16648374; Phenotypes: Intellectual developmental disorder, X-linked - MIM#300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2022-12-06T12:16:16.894625+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NLGN4X: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:26350204, PMID:14963808, PMID:12669065, PMID:23352163, PMID:28263302, PMID:16648374; Phenotypes: Intellectual developmental disorder, X-linked - MIM#300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2022-12-06T12:15:59.505485+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TNNT1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 29931346, 10952871; Phenotypes: Nemaline myopathy 5, Amish type MIM#605355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2022-12-06T11:11:11.672732+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Mark Williams",
"item_type": "entity",
"text": "reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35488810, 31953238, 26820108; Phenotypes: Stromme syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2022-12-06T11:09:49.530036+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.172",
"user_name": "Mark Williams",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2022-12-06T11:09:08.335645+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.172",
"user_name": "Mark Williams",
"item_type": "entity",
"text": "reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35488810, 31953238, 26820108; Phenotypes: Stromme syndrome, microcephaly, intestinal atresia, intellectual disability, developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2022-12-06T10:30:20.601562+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Lee Ren",
"item_type": "entity",
"text": "changed review comment from: Phenotype of Intellectual Disability has been observed in the PMIDs listed above in the following forms;\r\n-spastic diplegia\r\n-cortico-cerebullar\r\n-nodular heterotopia\r\n-epilepsy\r\n-severe motor development delay\r\n-short stature\r\n-neuropsychiatric problems\r\n-choreoathetosis\r\n-nystagmus; to: Phenotype of Intellectual Disability has been observed in the PMIDs listed above in the following forms;\r\n-spastic diplegia\r\n-cortico-cerebullar\r\n-nodular heterotopia\r\n-epilepsy\r\n-severe motor development delay\r\n-short stature\r\n-neuropsychiatric problems\r\n-choreoathetosis\r\n-nystagmus\r\n\r\nNB - review submit by Renée Crooks ( aka using google account as Lee Ren)",
"entity_name": "ELP2",
"entity_type": "gene"
},
{
"created": "2022-12-06T10:29:17.900176+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Lee Ren",
"item_type": "entity",
"text": "reviewed gene: ELP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33510603: 33976153: 33393008: 34653680: 25847581; Phenotypes: Intellectual Diability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ELP2",
"entity_type": "gene"
},
{
"created": "2022-12-06T04:14:38.624268+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Deepak Subramanian",
"item_type": "entity",
"text": "reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19079258, 22987541, 23401208, 28497491, 32879452, 35186393, 20950377, 22043478; Phenotypes: Osteopathia striata with cranial sclerosis, OMIM:300373, Osteopathia striata-cranial sclerosis syndrome, ORPHA:2780, Intellectual disability, HP:0001249; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "AMER1",
"entity_type": "gene"
},
{
"created": "2022-12-06T03:07:56.666532+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Philip Adam Harraka",
"item_type": "entity",
"text": "reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: None; Publications: 34745891, 33092611, 8968745; Phenotypes: Dihydrolipoamide dehydrogenase deficiency, hepatic and neurological disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-12-05T23:47:41.237774+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Nicolle Hua",
"item_type": "entity",
"text": "reviewed gene: DHCR24: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 11519011, 24961299, 29175559, 21559050, 12457401, 21671375; Phenotypes: Desmosterolosis, MIM# 602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHCR24",
"entity_type": "gene"
}
]
}