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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=337",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=335",
"results": [
{
"created": "2024-11-29T15:42:06.281414+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHDDS as Green List (high evidence)",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2024-11-29T15:42:06.264826+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhdds has been classified as Green List (High Evidence).",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2024-11-29T15:41:52.547108+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DHDDS: Added comment: ClinGen have lumped the CDG together with the RP -- likely represent a continuum of severity rather than distinct disorders.; Changed rating: GREEN; Changed publications: 27343064, 21295283, 28130426, 29276052, 32483926, 36046393, 24078709, 28005406, 36046393; Changed phenotypes: Congenital disorder of glycosylation, type 1bb, MIM# 613861; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2024-11-29T15:39:16.958855+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHDDS were set to 27343064",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2024-11-29T15:38:24.618078+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHDDS as Green List (high evidence)",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2024-11-29T15:38:24.606627+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhdds has been classified as Green List (High Evidence).",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2024-11-29T15:37:30.377759+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DHDDS: Added comment: ClinGen have lumped the CDG together with the RP -- likely represent a continuum of severity rather than distinct disorders.; Changed rating: GREEN; Changed publications: 27343064, 21295283, 28130426, 29276052, 32483926, 36046393, 24078709, 28005406, 36046393",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2024-11-29T13:16:25.111946+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.34",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19234460, 20357244, 18278053; Phenotypes: leukocyte adhesion deficiency 3 MONDO:0013016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2024-11-29T12:39:08.463226+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.34",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19232111, 34777883, 32984533, 24269275; Phenotypes: pycnodysostosis MONDO:0009940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2024-11-29T12:05:00.525503+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.34",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ANKH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301634, 20358596; Phenotypes: craniometaphyseal dysplasia MONDO:0015465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2024-11-29T11:06:16.371137+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SMAD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 29392890, 26247899; Phenotypes: Loeys-Dietz syndrome 3 MIM#613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2024-11-29T10:39:49.263954+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SMAD2: Rating: RED; Mode of pathogenicity: None; Publications: 26247899; Phenotypes: Loeys-Dietz syndrome 6 MONDO:0030500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2024-11-29T10:29:44.053051+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TSC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 36117164, 37800821; Phenotypes: lymphangioleiomyomatosis MONDO:0011705, tuberous sclerosis 2 MONDO:0013199; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2024-11-29T10:21:59.578409+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: TSC1: Changed rating: AMBER",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2024-11-29T10:13:14.620669+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Lymphangioleiomyomatosis (LAM) is the primary pulmonary manifestation of tuberous sclerosis. LAM can cause other pulmonary phenotypes including pneumothorax.\r\nThe reported cases in the literature have reported a pneumothorax phenotype secondary to LAM and not as a primary cause when looking at tuberous sclerosis. \r\nThere are many reported individuals with a diagnosis of LAM has been reported with pneumothorax. ; to: Lymphangioleiomyomatosis (LAM) is the primary pulmonary manifestation of tuberous sclerosis. LAM can cause other pulmonary phenotypes including pneumothorax.\r\nThe reported cases in the literature have reported a pneumothorax phenotype secondary to LAM and not as a primary cause when looking at tuberous sclerosis. \r\nThere are many reported individuals with a diagnosis of LAM has been reported with pneumothorax. \r\n\r\nThis gene would be green when curated against LAM however red when curated against TSC as pneumothorax is a secondary feature. ",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2024-11-29T10:12:25.446553+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: TSC1: Changed rating: GREEN",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2024-11-29T10:11:44.893750+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Lymphangioleiomyomatosis (LAM) is the primary pulmonary manifestation of tuberous sclerosis. LAM can cause other pulmonary phenotypes including pneumothorax.\r\nThe reported cases in the literature have reported a pneumothorax phenotype secondary to LAM and not as a primary cause.; to: Lymphangioleiomyomatosis (LAM) is the primary pulmonary manifestation of tuberous sclerosis. LAM can cause other pulmonary phenotypes including pneumothorax.\r\nThe reported cases in the literature have reported a pneumothorax phenotype secondary to LAM and not as a primary cause when looking at tuberous sclerosis. \r\nThere are many reported individuals with a diagnosis of LAM has been reported with pneumothorax. ",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2024-11-29T10:09:45.153093+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: TSC1: Changed rating: AMBER",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2024-11-29T10:06:18.042994+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TSC1: Rating: RED; Mode of pathogenicity: None; Publications: 27226234, 23729718, 19318672; Phenotypes: tuberous sclerosis 1 MONDO:0008612, lung lymphangioleiomyomatosis MONDO:0006277; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2024-11-29T09:47:30.413995+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TGFB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22772371, 29392890; Phenotypes: Loeys-Dietz syndrome 4 MONDO:0013897; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2024-11-29T08:40:24.087631+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22488992, 26493799; Phenotypes: Loeys-Dietz syndrome 2 MONDO:0012427; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2024-11-29T08:33:38.679117+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2024-11-29T08:33:36.800598+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2024-11-28T17:27:00.406498+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TGFB3: Rating: RED; Mode of pathogenicity: None; Publications: 25835445, 31898322; Phenotypes: Loeys-Dietz syndrome MONDO:0018954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2024-11-28T17:26:33.201374+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TGFBR1: Rating: RED; Mode of pathogenicity: None; Publications: 16799921, 25835445; Phenotypes: Loeys-Dietz syndrome MONDO:0018954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2024-11-28T16:23:51.297744+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26493799, 22488992, 24577266; Phenotypes: Loeys-Dietz syndrome 4 MONDO:0013897; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2024-11-28T15:36:45.706608+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: COG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20605848, 23430903, 26260076, 32905044, 32683677, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIl (MIM# 614576); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2024-11-28T15:23:23.638412+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: GPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27601654, 25758935, 31471722; Phenotypes: Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM #616281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:49:31.930543+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907147, 23499752, 24461907, 22499348, 30911575; Phenotypes: Leigh Syndrome MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:49:19.252305+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301398, 38766979; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM #312870; 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": "GPC3",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:46:26.468926+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: DPH1 as ready",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:46:26.448334+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: dph1 has been classified as Green List (High Evidence).",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:46:22.339314+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: DPH1 were set to ",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:45:55.142048+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38633947, 20301692; Phenotypes: alpha 1-antitrypsin deficiency MONDO:0013282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:45:20.876024+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.632",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: EIF2B5 as ready",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:45:20.853482+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.632",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: eif2b5 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:45:14.227307+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.632",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: EIF2B5 were set to ",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:44:19.285427+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.631",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ESCO2 as ready",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:44:19.280492+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.631",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: ClinGen review",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:44:19.256800+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.631",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: esco2 has been classified as Green List (High Evidence).",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:44:01.631395+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.631",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: ClinGen review for Roberts-SC phocolmelia MONDO:0100253 but no reference to Juberg-Hayward syndrome",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:44:01.556391+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.631",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: ESCO2 were changed from SC phocomelia syndrome, 269000 (3) to Juberg-Hayward syndrome (MIM#216100); Roberts-SC phocomelia syndrome (MIM#268300)",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:40:53.419886+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.630",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ESCO2 were set to ",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:36:53.060926+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.629",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GAMT as ready",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:36:53.051303+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.629",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: gamt has been classified as Green List (High Evidence).",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:36:48.703707+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.629",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GAMT were set to ",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:35:52.797499+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.628",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GLDC as ready",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:35:52.785616+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.628",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: gldc has been classified as Green List (High Evidence).",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:35:47.706536+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.628",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GLDC were set to ",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:34:53.787587+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.627",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GNS as ready",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:34:53.776553+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.627",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: gns has been classified as Green List (High Evidence).",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:34:45.148969+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.627",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GNS were set to ",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:33:55.810734+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.626",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GPAA1 as ready",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:33:55.757986+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.626",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: gpaa1 has been classified as Green List (High Evidence).",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:33:51.578359+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.626",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: GPAA1 were changed from Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3), Autosomal recessive to Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:33:35.921539+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.625",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GPAA1 were set to ",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:32:44.157452+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.624",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GRM1 as ready",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:32:44.132591+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.624",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: grm1 has been classified as Green List (High Evidence).",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:32:39.309379+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.624",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GRM1 were set to 22901947; 26308914; 31319223",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:32:38.481549+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.624",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GRM1 were set to ",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:31:42.361865+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.623",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GTF2H5 as ready",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:31:42.344529+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.623",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: gtf2h5 has been classified as Green List (High Evidence).",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:31:38.617948+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.623",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: GTF2H5 were changed from Trichothiodystrophy 3, photosensitive, 616395 (3) to Trichothiodystrophy 3, photosensitive, MIM# 616395",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:31:24.195412+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.622",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GTF2H5 were set to ",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:30:27.391394+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.621",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GUCY1A3 as ready",
"entity_name": "GUCY1A3",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:30:27.379658+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.621",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: gucy1a3 has been classified as Green List (High Evidence).",
"entity_name": "GUCY1A3",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:30:22.345240+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.621",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GUCY1A3 were set to ",
"entity_name": "GUCY1A3",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:29:23.425796+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.620",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ATF6 as ready",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:29:23.412583+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.620",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: atf6 has been classified as Green List (High Evidence).",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:29:17.281415+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.620",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: ATF6 were changed from Achromatopsia 7, 616517 (3), Autosomal recessive to Achromatopsia 7, MIM# 616517",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:29:04.724645+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.619",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ATF6 were set to ",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:26:21.742019+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.618",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: B4GALNT1 as ready",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:26:21.731543+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.618",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: b4galnt1 has been classified as Green List (High Evidence).",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:26:20.171378+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.618",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, MIM# 609195 to Spastic paraplegia 26, MIM# 609195",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:26:17.898389+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.617",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, autosomal recessive, 609195 (3) to Spastic paraplegia 26, MIM# 609195",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:26:04.878659+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.616",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: B4GALNT1 were set to ",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:24:38.686237+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.615",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: LARP7 as ready",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:24:38.673405+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.615",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: larp7 has been classified as Green List (High Evidence).",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:24:34.381769+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.615",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: LARP7 were changed from Alazami syndrome, 615071 (3) to Alazami syndrome MIM#615071",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:24:19.624888+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.614",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: LARP7 were set to ",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:23:52.707562+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.613",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 12471062, 24813872, 16410054; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblB type MIM#251110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:23:21.705620+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.613",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: FKBP10 as ready",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:23:21.694696+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.613",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: fkbp10 has been classified as Green List (High Evidence).",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:23:17.618180+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.613",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: FKBP10 were changed from Bruck syndrome 1, 259450 (3) to Bruck syndrome MIM#259450; osteogenesis imperfecta, type XI, MIM#610968",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:21:24.306590+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.612",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: FKBP10 were set to ",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:20:25.897612+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.611",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: LBR as ready",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:20:25.886016+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.611",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: lbr has been classified as Green List (High Evidence).",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:20:19.871972+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.611",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: See detailed ClinGen curation these phenotypes have been split.",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:20:19.840121+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.611",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: LBR were changed from Greenberg skeletal dysplasia MIM#215140; Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly MIM#618019 to Greenberg skeletal dysplasia MIM#215140; Regressive Spondylometaphyseal Dysplasia MIM#618019)",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:16:15.275633+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.610",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: LBR were changed from Greenberg skeletal dysplasia, 215140 (3) to Greenberg skeletal dysplasia MIM#215140; Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly MIM#618019",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:13:35.102046+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.609",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: LBR were set to ",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:12:22.648502+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.608",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28417072, 28192816, 27402091, 33819415; Phenotypes: GM2-gangliosidosis, AB variant MIM #272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:11:50.721164+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.608",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: MBTPS1 as ready",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:11:50.715163+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.608",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: UPGRADE TO GREEN",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:11:50.668904+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.608",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: mbtps1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:11:43.141727+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301695, 22146830; Phenotypes: Obsolete Birt-Hogg-Dube syndrome MONDO:0007607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:09:01.019249+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.608",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: MGP as ready",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:09:00.986309+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.608",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: mgp has been classified as Green List (High Evidence).",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:08:55.245870+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.608",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: MGP were set to ",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:08:03.114133+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.607",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: BIN1 as ready",
"entity_name": "BIN1",
"entity_type": "gene"
}
]
}