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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=301",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=299",
"results": [
{
"created": "2025-01-29T14:45:51.115758+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LCA5 as ready",
"entity_name": "LCA5",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:45:51.102347+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lca5 has been classified as Green List (High Evidence).",
"entity_name": "LCA5",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:45:47.217192+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LCA5 were changed from Leber congenital amaurosis 5, 604537 (3) to Leber congenital amaurosis 5, MIM# 604537",
"entity_name": "LCA5",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:45:33.686631+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LCA5 were set to ",
"entity_name": "LCA5",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:45:09.215741+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAN1B1 as ready",
"entity_name": "MAN1B1",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:45:09.196245+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man1b1 has been classified as Green List (High Evidence).",
"entity_name": "MAN1B1",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:45:01.798185+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAN1B1 were changed from Mental retardation, autosomal recessive 15, 614202 (3) to Rafiq syndrome, MIM# 614202",
"entity_name": "MAN1B1",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:44:29.101369+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAN1B1 were set to ",
"entity_name": "MAN1B1",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:44:03.094214+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAOA as ready",
"entity_name": "MAOA",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:44:03.080706+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: maoa has been classified as Green List (High Evidence).",
"entity_name": "MAOA",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:43:36.994989+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAOA were changed from Brunner syndrome, 300615 (3) to Brunner syndrome, MIM# 300615",
"entity_name": "MAOA",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:43:24.466002+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAOA were set to ",
"entity_name": "MAOA",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:42:57.160476+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MASP1 as ready",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:42:57.151204+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: masp1 has been classified as Green List (High Evidence).",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:42:53.160790+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MASP1 were changed from 3MC syndrome 1, 257920 (3) to 3MC syndrome 1, MIM# 257920",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:42:41.736239+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MASP1 were set to ",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:42:17.052097+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPI as ready",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:42:17.041534+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpi has been classified as Green List (High Evidence).",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:42:13.318550+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPI were changed from Congenital disorder of glycosylation, type Ib, 602579 (3) to Congenital disorder of glycosylation, type Ib, MIM# 602579",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:42:00.924795+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPI were set to ",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:31:21.275185+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1357",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: 32266963, 19101627, 12414827, 9585601, 10980531, 33098580, 33204592, 32905087, 30242110; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:22:33.756940+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1357",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26789649, 21258343, 21035106, 16096999; Phenotypes: 3MC syndrome 1, MIM# 257920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2025-01-29T14:06:11.219130+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1357",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: MAOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25807999, 24169519, 8503438, 37750385; Phenotypes: Brunner syndrome, MIM# 300615; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MAOA",
"entity_type": "gene"
},
{
"created": "2025-01-29T13:54:59.784330+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1357",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: MAN1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21763484, 26279649, 20345473; Phenotypes: Rafiq syndrome, MIM# 614202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAN1B1",
"entity_type": "gene"
},
{
"created": "2025-01-29T13:42:41.954128+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1357",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: LCA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10631161, 12642313, 17546029; Phenotypes: Leber congenital amaurosis 5, MIM# 604537; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LCA5",
"entity_type": "gene"
},
{
"created": "2025-01-29T13:30:18.249983+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1357",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "changed review comment from: The majority of individuals present within the first months of life with oral thrush, diarrhea, fever, pneumonia, and/or failure to thrive as well as hypogammmaglobulinaemia, absent T and B lymphocytes and increased radiosensitivity.\r\n\r\nHomozygous and compound heterozygous (missense, in-frame indel, nonsense, frameshift, and large deletion) variants have been reported; with the most common being gross deletions exons 1-3.\r\n*c.597C>A p.Tyr199X founder variant (Athabascan/ European Origin) \r\n\r\nHGNC approved symbol/name: DCLRE1C \r\nIs the phenotype(s) severe and onset <18yo? Yes\r\nKnown technical challenges: ?most common variant is a deletion \r\nGene reported in 3 independent families: Yes\r\n\r\nNote: ClinGen groups the 2 OMIM phenotypes into \"severe combined immunodeficiency due to DCLRE1C deficiency\"; to: The majority of individuals present within the first months of life with oral thrush, diarrhea, fever, pneumonia, and/or failure to thrive as well as hypogammmaglobulinaemia, absent T and B lymphocytes and increased radiosensitivity.\r\n\r\nHomozygous and compound heterozygous (missense, in-frame indel, nonsense, frameshift, and large deletion) variants have been reported; with the most common being gross deletions exons 1-3 (~59%)\r\n*c.597C>A p.Tyr199X founder variant (Athabascan/ European Origin) \r\n\r\nHGNC approved symbol/name: DCLRE1C \r\nIs the phenotype(s) severe and onset <18yo? Yes\r\nKnown technical challenges: ?most common variant is a deletion \r\nGene reported in 3 independent families: Yes\r\n\r\nNote: ClinGen groups the 2 OMIM phenotypes into \"severe combined immunodeficiency due to DCLRE1C deficiency\"",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2025-01-28T13:05:00.866409+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXA1 as ready",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2025-01-28T13:05:00.846946+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa1 has been classified as Green List (High Evidence).",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2025-01-28T13:04:54.904157+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXA1 were changed from Athabaskan brainstem dysgenesis syndrome, 601536 (3) to Athabaskan brainstem dysgenesis syndrome, MIM#601536; Bosley-Salih-Alorainy syndrome, MIM#601536",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2025-01-28T13:04:41.110792+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXA1 were set to ",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2025-01-28T13:04:14.100454+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD17B10 as ready",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2025-01-28T13:04:14.085370+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b10 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2025-01-28T13:04:10.872079+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSD17B10 were changed from HSD10 mitochondrial disease to HSD10 mitochondrial disease, MIM#300438",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2025-01-28T13:03:57.548919+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSD17B10 were set to ",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2025-01-28T13:03:23.456569+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IARS as ready",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2025-01-28T13:03:23.438669+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iars has been classified as Green List (High Evidence).",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2025-01-28T13:03:19.893428+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IARS were changed from Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2025-01-28T13:02:51.581125+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFNGR2 as ready",
"entity_name": "IFNGR2",
"entity_type": "gene"
},
{
"created": "2025-01-28T13:02:51.544606+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifngr2 has been classified as Green List (High Evidence).",
"entity_name": "IFNGR2",
"entity_type": "gene"
},
{
"created": "2025-01-28T13:02:47.514637+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFNGR2 were changed from Immunodeficiency 28, mycobacteriosis, 614889 (3) to Immunodeficiency 28, mycobacteriosis, MIM#614889",
"entity_name": "IFNGR2",
"entity_type": "gene"
},
{
"created": "2025-01-28T13:02:34.511799+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFNGR2 were set to ",
"entity_name": "IFNGR2",
"entity_type": "gene"
},
{
"created": "2025-01-28T13:02:07.553101+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL11RA as ready",
"entity_name": "IL11RA",
"entity_type": "gene"
},
{
"created": "2025-01-28T13:02:07.538082+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il11ra has been classified as Green List (High Evidence).",
"entity_name": "IL11RA",
"entity_type": "gene"
},
{
"created": "2025-01-28T13:02:03.997482+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL11RA were changed from Craniosynostosis and dental anomalies, 614188 (3) to Craniosynostosis and dental anomalies, MIM#614188",
"entity_name": "IL11RA",
"entity_type": "gene"
},
{
"created": "2025-01-28T13:01:42.121351+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL11RA were set to ",
"entity_name": "IL11RA",
"entity_type": "gene"
},
{
"created": "2025-01-28T12:52:19.503582+11:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related to Mitochondrial DNA depletion syndrome 21, MIM# 621071",
"entity_name": "GUK1",
"entity_type": "gene"
},
{
"created": "2025-01-28T12:51:58.185557+11:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GUK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 21, MIM# 621071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUK1",
"entity_type": "gene"
},
{
"created": "2025-01-28T12:51:38.102262+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related to Mitochondrial DNA depletion syndrome 21, MIM# 621071",
"entity_name": "GUK1",
"entity_type": "gene"
},
{
"created": "2025-01-28T12:51:17.097255+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GUK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 21, MIM# 621071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUK1",
"entity_type": "gene"
},
{
"created": "2025-01-28T12:50:51.098482+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related to Mitochondrial DNA depletion syndrome 21, MIM# 621071",
"entity_name": "GUK1",
"entity_type": "gene"
},
{
"created": "2025-01-28T12:50:11.037885+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GUK1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 21, MIM# 621071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUK1",
"entity_type": "gene"
},
{
"created": "2025-01-28T12:49:40.284750+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related to Mitochondrial DNA depletion syndrome 21, MIM# 621071",
"entity_name": "GUK1",
"entity_type": "gene"
},
{
"created": "2025-01-28T12:48:47.283334+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GUK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 21, MIM# 621071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUK1",
"entity_type": "gene"
},
{
"created": "2025-01-28T12:48:27.775954+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related to Mitochondrial DNA depletion syndrome 21, MIM# 621071",
"entity_name": "GUK1",
"entity_type": "gene"
},
{
"created": "2025-01-28T12:48:02.528713+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GUK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 21, MIM# 621071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUK1",
"entity_type": "gene"
},
{
"created": "2025-01-28T08:47:25.696358+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1348",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: IL11RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29926465, 24498618; Phenotypes: Craniosynostosis and dental anomalies, MIM#614188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL11RA",
"entity_type": "gene"
},
{
"created": "2025-01-28T08:40:10.820849+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1348",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: IFNGR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18625743, 31497017; Phenotypes: Immunodeficiency 28, mycobacteriosis, MIM#614889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFNGR2",
"entity_type": "gene"
},
{
"created": "2025-01-28T08:32:22.769583+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1348",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2025-01-28T08:30:09.344150+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1348",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: 38841322, 22127393; Phenotypes: HSD10 mitochondrial disease, MIM#300438; 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": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2025-01-28T08:21:46.588331+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1348",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18412118; Phenotypes: Athabaskan brainstem dysgenesis syndrome, MIM#601536, Bosley-Salih-Alorainy syndrome, MIM#601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:28:27.435756+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FMR1 as ready",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:28:27.400609+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fmr1 has been classified as Green List (High Evidence).",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:28:22.094510+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FMR1 were changed from Fragile X syndrome to Fragile X syndrome, MIM #300624",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:28:09.342694+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FMR1 were set to ",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:27:53.950954+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fragile X syndrome, MIM #300624; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:21:37.056982+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPH1 as ready",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:21:37.040457+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph1 has been classified as Green List (High Evidence).",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:21:33.675884+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPH1 were changed from Ciliary dyskinesia, primary, 24, 615481 (3) to Ciliary dyskinesia, primary, 24 MIM#615481",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:21:20.996559+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPH1 were set to ",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:20:54.171538+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC29A3 as ready",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:20:54.160759+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc29a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:20:50.745534+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome, 602782 (3) to Histiocytosis-lymphadenopathy plus syndrome MIM#602782",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:20:37.822330+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC29A3 were set to ",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:20:13.191754+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUOX as ready",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:20:13.175704+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suox has been classified as Green List (High Evidence).",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:20:09.768631+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUOX were changed from Sulfite oxidase deficiency, 272300 (3) to Sulfite oxidase deficiency MIM#272300",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:19:57.923781+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUOX were set to ",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:17:19.496656+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM216 as ready",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:17:19.483848+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem216 has been classified as Green List (High Evidence).",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:17:15.842080+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2, 608091 (3) to Joubert syndrome 2, MIM#608091; Meckel syndrome 2, MIM#603194; Retinitis pigmentosa 98, MIM#620996; ciliopathy MONDO:0005308",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:17:04.005344+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM216 were set to ",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:16:39.884985+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TALDO1 as ready",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:16:39.870560+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taldo1 has been classified as Green List (High Evidence).",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:16:36.604694+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TALDO1 were changed from Transaldolase deficiency, 606003 (3) to Transaldolase deficiency MIM#606003",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:16:22.983682+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TALDO1 were set to ",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:15:58.889232+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSFM as ready",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:15:58.876516+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsfm has been classified as Green List (High Evidence).",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:15:55.257815+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSFM were changed from Combined oxidative phosphorylation deficiency 3, 610505 (3) to Combined oxidative phosphorylation deficiency 3, MIM#610505",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:15:36.609985+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSFM were set to ",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:15:09.088021+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TWNK as ready",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:15:09.072007+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: twnk has been classified as Green List (High Evidence).",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:15:05.560841+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TWNK were changed from Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3) to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM#271245; Perrault syndrome 5, MIM#616138",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:14:50.533659+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TWNK were set to ",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:14:19.869185+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UMPS as ready",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:14:19.857673+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: umps has been classified as Green List (High Evidence).",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:14:16.867676+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UMPS were changed from Orotic aciduria, 258900 (3) to Orotic aciduria, MIM#258900",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:13:48.944998+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UMPS were set to ",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:09:01.527379+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM138 as ready",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:09:01.495608+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem138 has been classified as Green List (High Evidence).",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2025-01-24T11:08:58.082655+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM138 were changed from Joubert syndrome 16, 614465 (3) to Joubert syndrome 16, MIM#614465",
"entity_name": "TMEM138",
"entity_type": "gene"
}
]
}