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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=303",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=301",
"results": [
{
"created": "2025-01-23T14:01:09.189176+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HACE1 as ready",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2025-01-23T14:01:09.173462+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hace1 has been classified as Green List (High Evidence).",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2025-01-23T14:00:30.274862+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HACE1 were changed from Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive to Spastic paraplegia and psychomotor retardation with or without seizures, MIM#616756",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2025-01-23T14:00:06.254603+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HACE1 were set to ",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:59:38.312629+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HES7 as ready",
"entity_name": "HES7",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:59:38.297765+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hes7 has been classified as Green List (High Evidence).",
"entity_name": "HES7",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:59:34.926761+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HES7 were changed from Spondylocostal dysostosis 4, autosomal recessive, 613686 (3) to Spondylocostal dysostosis 4, autosomal recessive MIM#60859",
"entity_name": "HES7",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:59:20.704274+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HES7 were set to ",
"entity_name": "HES7",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:58:57.474485+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRNT1 as ready",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:58:57.460041+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trnt1 has been classified as Green List (High Evidence).",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:58:53.651504+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRNT1 were changed from Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3) to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM #616084",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:58:38.786450+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRNT1 were set to ",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:58:13.523036+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSEN2 as ready",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:58:13.510608+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen2 has been classified as Green List (High Evidence).",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:58:09.601121+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSEN2 were changed from Pontocerebellar hypoplasia type 2B, 612389 (3) to Pontocerebellar hypoplasia type 2B, MIM #612389",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:57:54.779850+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSEN2 were set to ",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:52:55.905373+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC21B as ready",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:52:55.872815+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc21b has been classified as Green List (High Evidence).",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:52:52.134354+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC21B were changed from Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3) to Short-rib thoracic dysplasia 4 with or without polydactyly, MIM #613819",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:52:37.663451+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC21B were set to ",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:52:14.563888+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC8 as ready",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:52:14.547142+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc8 has been classified as Green List (High Evidence).",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:52:11.110215+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC8 were changed from Bardet-Biedl syndrome 8, 615985 (3) to Bardet-Biedl syndrome 8, MIM #615985",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:51:57.293496+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC8 were set to ",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:51:27.506248+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBGCP6 as ready",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:51:27.476101+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp6 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:51:23.493104+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBGCP6 were changed from Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3) to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM #251270",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:51:09.434711+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBGCP6 were set to ",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:50:36.340951+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMP as ready",
"entity_name": "POMP",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:50:36.327541+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomp has been classified as Green List (High Evidence).",
"entity_name": "POMP",
"entity_type": "gene"
},
{
"created": "2025-01-23T13:50:32.224019+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POMP were set to ",
"entity_name": "POMP",
"entity_type": "gene"
},
{
"created": "2025-01-23T12:45:59.224329+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: TRIP11.",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2025-01-23T12:45:50.517279+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIP11 as ready",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2025-01-23T12:45:50.501959+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip11 has been classified as Green List (High Evidence).",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2025-01-23T12:45:38.652603+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIP11 were changed from Achondrogenesis, type IA, 200600 (3) to Achondrogenesis, type IA, MIM#200600",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2025-01-23T12:45:13.905537+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIP11 were set to ",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2025-01-23T12:40:02.083382+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1268",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "edited their review of gene: EDAR: Changed phenotypes: autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2025-01-23T12:35:49.059740+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1268",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "changed review comment from: The GJA1 gene is associated with both AD & AR conditions (OMIM).\r\n\r\nFor carrier screening testing, the only relevant conditions are the AR disorders: Craniometaphyseal dysplasia MIM#218400; Oculodentodigital dysplasia MIM#257850. \r\n\r\nCraniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. Characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with CMD (PMID: 23951358). Reports are rare and individuals are homozygous for the p.(Arg239Gln), located in the C-terminus of the GJA1 gene; at least 4x families reported (PMID: 23951358). \r\n\r\nOculodentodigital dysplasia (ODDD) is a rare condition characterised by a typical facial appearance and variable findings of the eyes, teeth, and fingers (PMID: 29902798). ODDD is generally AD (DN and GoF suggested), but rare AR cases have been identified. LoF is associated with AR ODDD (PMID: 29902798), and most variants reported are PTV within the connexin domain (PMID: 34035645).\r\n\r\nNB: the association with Hypoplastic left heart syndrome 1, MIM#241550 isn't listed in OMIM anymore, variants associated have been re-classified VUS (OMIM). Pfitzer C 2024 concludes that researchers must move beyond the expectation that a single disease-causing variant can be found (PMID 38884762).; to: The GJA1 gene is associated with both AD & AR conditions (OMIM).\r\n\r\nFor carrier screening testing, the only relevant conditions are the AR disorders: Craniometaphyseal dysplasia MIM#218400; Oculodentodigital dysplasia MIM#257850. \r\n\r\nCraniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. Characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with CMD (PMID: 23951358). Reports are rare and individuals are homozygous for the p.(Arg239Gln), located in the C-terminus of the GJA1 gene; at least 4x families reported (PMID: 23951358). \r\n\r\nOculodentodigital dysplasia (ODDD) is a rare condition characterised by a typical facial appearance and variable findings of the eyes, teeth, and fingers (PMID: 29902798). ODDD is generally AD (DN and GoF suggested), but rare AR cases have been identified. LoF is associated with AR ODDD (PMID: 29902798), and most variants reported are PTV within the connexin domain (PMID: 34035645).\r\n\r\nNB: the association with Hypoplastic left heart syndrome 1, MIM#241550 isn't listed in OMIM anymore, variants associated have been re-classified VUS (OMIM; PMID 38884762).",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2025-01-23T12:31:44.480620+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ISCA1 as ready",
"entity_name": "ISCA1",
"entity_type": "gene"
},
{
"created": "2025-01-23T12:31:44.466805+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: isca1 has been classified as Red List (Low Evidence).",
"entity_name": "ISCA1",
"entity_type": "gene"
},
{
"created": "2025-01-23T12:31:37.868950+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: ISCA1.",
"entity_name": "ISCA1",
"entity_type": "gene"
},
{
"created": "2025-01-23T12:28:28.074958+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1268",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "edited their review of gene: IL12RB1: Changed rating: GREEN",
"entity_name": "IL12RB1",
"entity_type": "gene"
},
{
"created": "2025-01-23T12:27:20.396830+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1268",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "changed review comment from: The COL7A1 gene is associated with dystrophic epidermolysis bullosa (DEB), a genetic skin disorder affecting skin and nails that usually presents at birth.\r\n\r\nThere are 2 main subtypes: dominant (DDEB) and recessive (RDEB), both with many clinical subtypes. For carrier screening testing, the only relevant subtypes are AR.\r\n\r\nGenotype-phenotype correlation is unclear (PMID: 31670143), but variants resulting in complete absence of protein are usually associated with the most severe RDEB (PMID: 32506467). The recessive exon skipping variants are scattered throughout the gene (PMID: 31670143).\r\n\r\nNB: Transient bullous of the newborn MIM#131705 is predominantly AD, but AR cases have been reported (PMID: 25639640 Table 1). It has onset at birth, but skin lesions resolve between 6 months and 2 years of age. Some patients have milder persistent blistering.; to: The COL7A1 gene is associated with dystrophic epidermolysis bullosa (DEB), a genetic skin disorder affecting skin and nails that usually presents at birth.\r\n\r\nThere are 2 main subtypes: dominant (DDEB) and recessive (RDEB), both with many clinical subtypes. For carrier screening testing, the only relevant subtypes are AR.\r\n\r\nGenotype-phenotype correlation is unclear (PMID: 31670143), but variants resulting in complete absence of protein are usually associated with the most severe RDEB (PMID: 32506467). The recessive exon skipping variants are scattered throughout the gene (PMID: 31670143).\r\n\r\nNB: Transient bullous of the newborn MIM#131705 is predominantly AD, but AR cases have been reported (PMID: 25639640 Table 1). It has onset at birth, but skin lesions resolve between 6 months and 2 years of age. Some patients have milder persistent blistering. As noted above, genotype-phenotype correlation is unclear.",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2025-01-23T12:26:10.326971+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1268",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "changed review comment from: The COL7A1 gene is associated with dystrophic epidermolysis bullosa (DEB), a genetic skin disorder affecting skin and nails that usually presents at birth.\r\n\r\nThere are 2 main subtypes: dominant (DDEB) and recessive (RDEB), both with many clinical subtypes. For carrier screening testing, the only relevant subtypes are AR.\r\n\r\nGenotype-phenotype correlation is unclear (PMID: 31670143), but variants resulting in complete absence of protein are usually associated with the most severe RDEB (PMID: 32506467). The recessive exon skipping variants are scattered throughout the gene (PMID: 31670143).\r\n\r\nNB: Transient bullous of the newborn MIM#131705 is predominantly AD, but AR cases have been reported (PMID: 25639640 Table 1). It has onset at birth, but skin lesions resolve between 6 months and 2 years of age. Some patients have milder persistent blistering. Relevance for Prepair requires discussion.; to: The COL7A1 gene is associated with dystrophic epidermolysis bullosa (DEB), a genetic skin disorder affecting skin and nails that usually presents at birth.\r\n\r\nThere are 2 main subtypes: dominant (DDEB) and recessive (RDEB), both with many clinical subtypes. For carrier screening testing, the only relevant subtypes are AR.\r\n\r\nGenotype-phenotype correlation is unclear (PMID: 31670143), but variants resulting in complete absence of protein are usually associated with the most severe RDEB (PMID: 32506467). The recessive exon skipping variants are scattered throughout the gene (PMID: 31670143).\r\n\r\nNB: Transient bullous of the newborn MIM#131705 is predominantly AD, but AR cases have been reported (PMID: 25639640 Table 1). It has onset at birth, but skin lesions resolve between 6 months and 2 years of age. Some patients have milder persistent blistering.",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2025-01-23T12:17:26.058110+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1268",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32425927; Phenotypes: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMP",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:59:52.814604+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TYK2 as ready",
"entity_name": "TYK2",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:59:52.786488+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tyk2 has been classified as Green List (High Evidence).",
"entity_name": "TYK2",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:59:45.480881+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TYK2 were changed from Immunodeficiency 35, 611521 (3) to Immunodeficiency 35, MIM #611521",
"entity_name": "TYK2",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:58:33.775382+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TYK2 were set to ",
"entity_name": "TYK2",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:57:30.385495+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE2A as ready",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:57:30.364672+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2a has been classified as Green List (High Evidence).",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:57:26.344081+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE2A were changed from Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3) to Intellectual developmental disorder, X-linked syndromic, Nascimento type, MIM #300860",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:57:12.554889+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBE2A were set to ",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:56:34.774683+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBE1 as ready",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:56:34.761877+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gbe1 has been classified as Green List (High Evidence).",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:53:27.032013+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV, 232500 (3) to Glycogen storage disease IV, MIM#232500",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:43:01.098041+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GCDH as ready",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:43:01.078976+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcdh has been classified as Green List (High Evidence).",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:42:56.118575+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GCDH were changed from Glutaricaciduria, type I, 231670 (3) to Glutaric aciduria, type I, MIM#231670",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:42:34.895905+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GCDH were set to ",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:38:49.048625+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIBCH as ready",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:38:49.030678+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hibch has been classified as Green List (High Evidence).",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:38:45.189962+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIBCH were changed from 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3) to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:36:11.544402+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HIBCH were set to ",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:35:45.223421+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR62 as ready",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:35:45.206875+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr62 has been classified as Green List (High Evidence).",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:35:28.456070+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR62 were changed from Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3) to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2025-01-23T11:35:11.031830+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR62 were set to ",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2025-01-23T10:11:28.589838+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: WDR62: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20890279, 20890278, 20729831, 21496009, 21834044, 22775483, 32677750; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2025-01-23T10:00:07.602108+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 33762937; Phenotypes: 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2025-01-23T09:56:59.929321+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31788423, 37020324; Phenotypes: Glutaric aciduria, type I, MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2025-01-23T09:49:07.853416+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IV, MIM#232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2025-01-22T17:22:16.169524+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: UBE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16909393, 24053514, 21108393, 20412111; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Nascimento type, MIM #300860; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2025-01-22T16:50:55.528088+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: TYK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17088085, 26304966, 34569645, 32537443; Phenotypes: Immunodeficiency 35, MIM #611521; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYK2",
"entity_type": "gene"
},
{
"created": "2025-01-22T16:16:36.016227+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25344692, 22279524, 39634241, 37927319, 37031378; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM #251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2025-01-22T15:28:18.940373+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 14520415, 19797195; Phenotypes: Bardet-Biedl syndrome 8, MIM #615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2025-01-22T14:58:46.683609+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21258341, 25492405, 33875766; Phenotypes: Short-rib thoracic dysplasia 4 with or without polydactyly, MIM #613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2025-01-22T10:44:26.254068+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23562994, 20952379, 18711368; Phenotypes: Pontocerebellar hypoplasia type 2B, MIM #612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2025-01-22T10:22:33.651907+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25193871, 23553769, 27389523, 29170023; Phenotypes: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM #616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2025-01-21T22:33:56.290091+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: HES7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23897666, 18775957, 20087400; Phenotypes: Spondylocostal dysostosis 4, autosomal recessive MIM#60859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HES7",
"entity_type": "gene"
},
{
"created": "2025-01-21T21:47:54.684299+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26437029, 26424145, 31321300; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, 616756, MONDO:0014764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2025-01-21T17:03:43.014157+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222957, 26917586; Phenotypes: Vici syndrome MIM# 242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2025-01-21T16:59:09.853486+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27144394, 8696334, 9507389, 9683615, 18657636; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100, Tooth agenesis, selective, X-linked 1 MIM#313500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2025-01-21T16:45:07.970899+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16917026, 18626973, 20147321, 16794080, 31453852, 29395672, 32360404, 19261599, 31880392, 34132406, 37849383; Phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300, Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2025-01-21T15:03:16.248171+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27019227, 31006512; Phenotypes: Pigmentary disorder, reticulate, with systemic manifestations, X-linked MIM#301220, Van Esch-O'Driscoll syndrome MIM#301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2025-01-21T14:32:20.362967+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30089473, 26471271, 22366253; Phenotypes: Cardiac valvular dysplasia, X-linked, MIM#314400, Congenital short bowel syndrome, MIM#300048, Frontometaphyseal dysplasia 1, MIM#305620, Heterotopia, periventricular, 1, MIM#300049, Intestinal pseudoobstruction, neuronal, MIM#300048, Melnick-Needles syndrome, MIM#309350, Otopalatodigital syndrome, type I, MIM#311300, Otopalatodigital syndrome, type II, MIM#304120, Terminal osseous dysplasia, MIM#300244; 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": "FLNA",
"entity_type": "gene"
},
{
"created": "2025-01-21T14:23:46.627056+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: YIF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32006098, 26077767, 33103737, 36948290, 34373908, 39265055; Phenotypes: Kaya-Barakat-Masson syndrome MIM#619125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2025-01-21T14:10:04.255364+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19838196, 24327336, 31737055, 31596031; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115, MONDO:0013142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2025-01-21T14:09:19.489037+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301750, 33946243; Phenotypes: Wolfram syndrome 1 MIM#222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2025-01-21T14:06:29.825891+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27343064, 21295282; Phenotypes: Retinitis pigmentosa 59, MIM#613861, Congenital disorder of glycosylation, type 1bb, MIM# 613861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2025-01-21T13:59:52.735367+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: 36583021, 36212127, 19830588, 22237589; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640, BH4-deficient hyperphenylalaninemia A, MONDO:0009863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2025-01-21T13:47:28.753197+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: WARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37107582, 37824696; Phenotypes: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MIM#617710, Parkinsonism-dystonia 3, childhood-onset MIM#619738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2025-01-21T13:43:43.804673+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 37474955, 20583548, 31429861; Phenotypes: Laron dwarfism, MIM#262500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2025-01-21T13:37:28.086471+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: None; Publications: 27916343, 25809233, 23315026, 36553512; Phenotypes: Myopathy, X-linked, with excessive autophagy MIM#310440; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2025-01-21T13:36:06.353253+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16940453; Phenotypes: Septooptic dysplasia, MIM#182230, Pituitary hormone deficiency, combined, 5 MIM#182230, Growth hormone deficiency with pituitary anomalies, MIM#182230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2025-01-21T13:27:59.666742+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29072891; Phenotypes: Poikiloderma with neutropenia MIM#604173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2025-01-21T13:24:46.497482+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16879200; Phenotypes: Coffin-Lowry syndrome, MIM#303600, Intellectual developmental disorder, X-linked 19, MIM#300844; 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": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2025-01-21T13:15:15.121298+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9345097, 25093188; Phenotypes: Albinism, oculocutaneous, type III MIM#203290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2025-01-21T13:04:01.413077+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 20, MIM#613794, Leber congenital amaurosis 2, MIM#204100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2025-01-21T13:02:16.935529+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: None; Publications: 21278747, 23532514, 24368687, 24397319, 25887401; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2 MIM#615157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC19",
"entity_type": "gene"
}
]
}