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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=331",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=329",
"results": [
{
"created": "2024-12-08T12:23:54.394727+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARS2 as ready",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:23:54.379681+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lars2 has been classified as Green List (High Evidence).",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:23:51.861041+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LARS2 were changed from Perrault syndrome 4; MIM# 615300 to Perrault syndrome 4, MIM# 615300",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:23:15.516987+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LARS2 were set to PMID: 32423379, 29205794, 23541342, 30737337, 26657938,",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:22:19.613329+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRF6 as ready",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:22:19.589286+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf6 has been classified as Green List (High Evidence).",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:22:02.451525+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HHAT as ready",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:22:02.430378+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hhat has been classified as Green List (High Evidence).",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:21:59.063859+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HHAT were set to PMID: 24784881, 33749989, 35045414",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:21:11.684115+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HARS2 as ready",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:21:11.662479+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hars2 has been classified as Green List (High Evidence).",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:20:56.795043+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HARS2 were set to PMID: 27650058, 21464306, 27087618",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:20:10.932802+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FREM2 as ready",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:20:10.914580+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frem2 has been classified as Green List (High Evidence).",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:20:07.893479+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FREM2 were set to PMID: 15838507, 29688405, 18203166, 18671281, 18000968",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:18:57.780405+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WT1 as ready",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:18:57.762228+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wt1 has been classified as Green List (High Evidence).",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:18:55.294526+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WT1 were changed from to Wilms tumor, MONDO:0006058; Wilms tumor 1, MONDO:0008679; Wilms tumor, type 1, MIM#194070; Denys-Drash syndrome, MIM#194080; Frasier syndrome, MIM#136680",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:18:23.365082+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:17:41.770022+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRY as ready",
"entity_name": "SRY",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:17:41.759737+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sry has been classified as Green List (High Evidence).",
"entity_name": "SRY",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:17:35.249183+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRY were changed from to 46XX sex reversal 1, MIM# 400045; 46XY sex reversal 1 , MIM#400044",
"entity_name": "SRY",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:17:00.685035+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRY were set to ",
"entity_name": "SRY",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:16:23.652205+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SRY was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "SRY",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:15:43.150043+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX9 as ready",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:15:43.128303+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox9 has been classified as Green List (High Evidence).",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:15:39.788652+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX9 were changed from to Campomelic dysplasia, MIM# 114290; Campomelic dysplasia, MONDO:0007251; Acampomelic campomelic dysplasia, MIM # 114290, 46XX sex reversal 2, MIM# 278850; 46XY sex reversal 10, MIM # 616425",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:15:05.122598+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:14:22.258969+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGFR1 as ready",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:14:22.245253+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr1 has been classified as Green List (High Evidence).",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:14:14.613020+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR1 were changed from to Encephalocraniocutaneous lipomatosis, somatic mosaic 613001; Hartsfield syndrome 615465; Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Osteoglophonic dysplasia 166250",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:12:48.423856+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGFR1 were set to ",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:10:37.931202+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGFR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:09:52.367736+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGFR2 as ready",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:09:52.351977+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr2 has been classified as Green List (High Evidence).",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:09:48.649860+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR2 were changed from to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410, Apert syndrome, MIM# 101200, Beare-Stevenson cutis gyrata syndrome, MIM# 123790, Bent bone dysplasia syndrome, MIM# 614592",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:09:12.009649+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGFR2 were set to ",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:08:37.560601+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGFR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:07:59.557387+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FSHB as ready",
"entity_name": "FSHB",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:07:59.537068+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fshb has been classified as Green List (High Evidence).",
"entity_name": "FSHB",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:07:53.870403+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FSHB were changed from to Hypogonadotropic hypogonadism 24 without anosmia, MIM#229070",
"entity_name": "FSHB",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:07:22.574132+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FSHB were set to ",
"entity_name": "FSHB",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:06:20.469985+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FSHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FSHB",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:05:39.646373+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FSHR were changed from to Ovarian dysgenesis 1 MONDO:0024463; Ovarian hyperstimulation syndrome MONDO:0011972",
"entity_name": "FSHR",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:05:07.246524+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FSHR as ready",
"entity_name": "FSHR",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:05:07.230592+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fshr has been classified as Green List (High Evidence).",
"entity_name": "FSHR",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:04:57.221081+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FSHR were set to ",
"entity_name": "FSHR",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:03:52.881103+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FSHR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FSHR",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:02:37.934215+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COASY as ready",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:02:37.922904+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coasy has been classified as Green List (High Evidence).",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:02:34.454044+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COASY were changed from COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 6 615643 to neurodegeneration with brain iron accumulation 6, MONDO:0014290; Neurodegeneration with brain iron accumulation 6 615643",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:02:09.571772+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COASY were set to ",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:01:32.720959+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCAF17 as ready",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:01:32.701557+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcaf17 has been classified as Green List (High Evidence).",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:01:26.084900+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome; Dystonia to Woodhouse-Sakati syndrome MONDO:0009419; Dystonia",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:01:09.634699+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCAF17 were set to ",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:00:18.101732+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPATCH11 were set to ",
"entity_name": "GPATCH11",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:00:00.845465+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPATCH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 39572588; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPATCH11",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:59:41.385095+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPATCH11 were set to ",
"entity_name": "GPATCH11",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:59:03.232649+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPATCH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 39572588; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPATCH11",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:57:03.222813+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPATCH11 were set to ",
"entity_name": "GPATCH11",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:56:21.539773+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDC as ready",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:56:21.511677+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddc has been classified as Green List (High Evidence).",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:56:16.250501+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDC were set to ",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:55:28.186752+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH5A1 as ready",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:55:28.156158+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh5a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:55:23.556881+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH5A1 were changed from epilepsy; paroxysmal exercise induced dyskinesia; globus pallidus hyperintensities on MRI to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:54:38.394842+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDH5A1 as Green List (high evidence)",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:54:38.379384+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh5a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:54:01.878543+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:53:06.232491+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPR as ready",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:53:06.219311+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spr has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:52:57.825941+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPR were changed from to Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:52:20.970203+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPR were set to ",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:51:46.497482+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:51:10.227122+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPR as Amber List (moderate evidence)",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:51:10.209158+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spr has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:50:31.509762+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:49:29.421468+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ10 were set to 38979912",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:48:44.927510+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ10 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:42:29.996503+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMGCS1 as ready",
"entity_name": "HMGCS1",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:42:29.969736+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmgcs1 has been classified as Green List (High Evidence).",
"entity_name": "HMGCS1",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:42:21.590157+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HMGCS1 as Green List (high evidence)",
"entity_name": "HMGCS1",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:42:21.566134+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmgcs1 has been classified as Green List (High Evidence).",
"entity_name": "HMGCS1",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:41:59.511479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HMGCS1 was added\ngene: HMGCS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HMGCS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HMGCS1 were set to 39531736\nPhenotypes for gene: HMGCS1 were set to Rigid spine syndrome, MONDO:0019951, HMGCS1-related\nReview for gene: HMGCS1 was set to GREEN\nAdded comment: Five individuals from four families reported. All individuals presented with spinal rigidity primarily affecting the cervical and dorsolumbar regions, scoliosis, and respiratory insufficiency. Creatine kinase levels were variably elevated. The clinical course worsened with intercurrent disease or certain drugs in some; one individual died from respiratory failure following infection. Muscle biopsies revealed irregularities in oxidative enzyme staining with occasional internal nuclei and rimmed vacuoles.\r\nHMGCS1 encodes a critical enzyme of the mevalonate pathway. Notably, biallelic hypomorphic variants in downstream enzymes including HMGCR and GGPS1 are associated with muscular dystrophy. Hmgcs1 mutant zebrafish displayed severe early defects, including immobility at 2 days and death by day 3 post-fertilisation and were rescued by HMGCS1 mRNA. Four variants tested (S447P, Q29L M70T, and C268S) have reduced function compared to wildtype HMGCS1 in zebrafish rescue assays \nSources: Literature",
"entity_name": "HMGCS1",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:41:56.682901+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMGCS1 as ready",
"entity_name": "HMGCS1",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:41:56.668435+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmgcs1 has been classified as Green List (High Evidence).",
"entity_name": "HMGCS1",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:41:44.560761+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HMGCS1 as Green List (high evidence)",
"entity_name": "HMGCS1",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:41:44.549053+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmgcs1 has been classified as Green List (High Evidence).",
"entity_name": "HMGCS1",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:40:36.729177+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HMGCS1 was added\ngene: HMGCS1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: HMGCS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HMGCS1 were set to 39531736\nPhenotypes for gene: HMGCS1 were set to Rigid spine syndrome, MONDO:0019951, HMGCS1-related\nReview for gene: HMGCS1 was set to GREEN\nAdded comment: Five individuals from four families reported. All individuals presented with spinal rigidity primarily affecting the cervical and dorsolumbar regions, scoliosis, and respiratory insufficiency. Creatine kinase levels were variably elevated. The clinical course worsened with intercurrent disease or certain drugs in some; one individual died from respiratory failure following infection. Muscle biopsies revealed irregularities in oxidative enzyme staining with occasional internal nuclei and rimmed vacuoles.\r\nHMGCS1 encodes a critical enzyme of the mevalonate pathway. Notably, biallelic hypomorphic variants in downstream enzymes including HMGCR and GGPS1 are associated with muscular dystrophy. Hmgcs1 mutant zebrafish displayed severe early defects, including immobility at 2 days and death by day 3 post-fertilisation and were rescued by HMGCS1 mRNA. Four variants tested (S447P, Q29L M70T, and C268S) have reduced function compared to wildtype HMGCS1 in zebrafish rescue assays \nSources: Literature",
"entity_name": "HMGCS1",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:35:12.493177+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MGA as ready",
"entity_name": "MGA",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:35:12.444146+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mga has been classified as Green List (High Evidence).",
"entity_name": "MGA",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:23:26.680448+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MGA as Green List (high evidence)",
"entity_name": "MGA",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:23:26.669980+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mga has been classified as Green List (High Evidence).",
"entity_name": "MGA",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:22:27.142829+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MGA was added\ngene: MGA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MGA were set to 39600096; 20044811\nPhenotypes for gene: MGA were set to Syndromic disease, MONDO:0002254, MGA-related\nReview for gene: MGA was set to GREEN\nAdded comment: Three individuals with de novo LoF variants reported in individuals with ID and congenital anomalies. Zebrafish model supports role of this transcription factor in organogenesis. Note there are previous, less clear reports of association with NDD/CHD. Gene is constrained for LoF variants in gnomad v4; however, note there are ~30 individuals with LoF variants present. Borderline Green/Amber. \nSources: Literature",
"entity_name": "MGA",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:08:43.792343+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CMPK2 as ready",
"entity_name": "CMPK2",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:08:43.771923+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cmpk2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CMPK2",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:08:34.976530+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CMPK2 as Amber List (moderate evidence)",
"entity_name": "CMPK2",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:08:34.958298+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cmpk2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CMPK2",
"entity_type": "gene"
},
{
"created": "2024-12-08T11:08:16.700935+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CMPK2 was added\ngene: CMPK2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CMPK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CMPK2 were set to 36443312\nPhenotypes for gene: CMPK2 were set to bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related\nReview for gene: CMPK2 was set to AMBER\nAdded comment: Three individuals from two unrelated families reported. One family (two sibs) with homozygous start loss variant, and the other family with compound het variants. Adult-onset neurodegenerative disorder. Extensive functional data including mouse model. Evidence of underlying mitochondrial dysfunction. \nSources: Literature",
"entity_name": "CMPK2",
"entity_type": "gene"
}
]
}