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{
"count": 220806,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=185",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=183",
"results": [
{
"created": "2025-08-26T20:15:57.490262+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTHLH were set to ",
"entity_name": "PTHLH",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:14:41.542159+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXD13 as ready",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:14:41.531457+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxd13 has been classified as Green List (High Evidence).",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:14:37.917622+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXD13 were changed from to Brachydactyly, type E, 113300",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:14:14.481260+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXD13 were set to ",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:13:41.776917+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXD13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:13:08.040181+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBCE as ready",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:13:08.029538+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbce has been classified as Red List (Low Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:13:05.996133+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCE were changed from to Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:12:39.231016+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:11:51.619968+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKN1C as ready",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:11:51.609471+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkn1c has been classified as Green List (High Evidence).",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:11:33.492406+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADK as ready",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:11:33.481760+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adk has been classified as Green List (High Evidence).",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:11:12.476620+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAH as ready",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:11:12.461599+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fah has been classified as Green List (High Evidence).",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:10:51.609872+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF2S3 were set to ",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:10:14.997197+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HRAS as ready",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:10:14.984463+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hras has been classified as Green List (High Evidence).",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:09:20.554098+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRMT10A were set to ",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:08:41.696315+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YARS as ready",
"entity_name": "YARS",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:08:41.685555+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yars has been classified as Red List (Low Evidence).",
"entity_name": "YARS",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:04:13.294130+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLEKHG5 were changed from Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067 to hereditary peripheral neuropathy MONDO:0020127, PLEKHG5-related",
"entity_name": "PLEKHG5",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:03:30.651424+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX1 as ready",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:03:30.641358+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx1 has been classified as Green List (High Evidence).",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:03:24.446301+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX1 were set to PMID: 20301696, 16684884, 14585638, 30137364",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:02:32.293574+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLEKHN1 were changed from Sensory Neuropathy to Hereditary sensory and autonomic neuropathy, MONDO:0015364, PLEKHN1-related",
"entity_name": "PLEKHN1",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:02:16.344079+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLEKHN1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLEKHN1",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:02:09.297319+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLEKHN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary sensory and autonomic neuropathy, MONDO:0015364, PLEKHN1-related; Mode of inheritance: None",
"entity_name": "PLEKHN1",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:01:52.973229+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLEKHN1 were changed from Sensory Neuropathy to Hereditary sensory and autonomic neuropathy, MONDO:0015364, PLEKHN1-related",
"entity_name": "PLEKHN1",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:00:42.070172+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYP3A4 were set to 29461981",
"entity_name": "CYP3A4",
"entity_type": "gene"
},
{
"created": "2025-08-26T19:58:24.278297+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIO was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2025-08-26T18:09:18.244404+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAOK2 were changed from Generalized verrucosis; abnormal T cell activation to Inborn error of immunity, MONDO:0003778, TAOK2-related",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2025-08-26T18:08:52.640318+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TAOK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inborn error of immunity, MONDO:0003778, TAOK2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2025-08-26T17:24:03.816255+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYP were changed from Mental retardation, X-linked 96, 300802 (3) to Intellectual developmental disorder, X-linked 96, MIM# 300802",
"entity_name": "SYP",
"entity_type": "gene"
},
{
"created": "2025-08-26T17:23:54.348077+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 96, MIM# 300802; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SYP",
"entity_type": "gene"
},
{
"created": "2025-08-26T17:23:31.991702+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYP were changed from Mental retardation, X-linked 96 MIM#300802 to Intellectual developmental disorder, X-linked 96, MIM# 300802",
"entity_name": "SYP",
"entity_type": "gene"
},
{
"created": "2025-08-26T17:23:08.308547+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SYP: Changed phenotypes: Intellectual developmental disorder, X-linked 96, MIM# 300802",
"entity_name": "SYP",
"entity_type": "gene"
},
{
"created": "2025-08-26T17:22:48.542813+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYP were changed from Mental retardation, X-linked 96 MIM#300802 to Intellectual developmental disorder, X-linked 96, MIM# 300802",
"entity_name": "SYP",
"entity_type": "gene"
},
{
"created": "2025-08-26T17:22:28.042785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 96, MIM# 300802; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SYP",
"entity_type": "gene"
},
{
"created": "2025-08-26T17:11:15.931049+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNCRIP were changed from Global developmental delay; Intellectual disability; Autism; Myoclonic atonic seizures; Abnormality of nervous system morphology to Neurodevelopmental disorder, MONDO:0700092, SYNCRIP-related",
"entity_name": "SYNCRIP",
"entity_type": "gene"
},
{
"created": "2025-08-26T17:10:57.895050+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SYNCRIP: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SYNCRIP-related",
"entity_name": "SYNCRIP",
"entity_type": "gene"
},
{
"created": "2025-08-26T17:05:22.427344+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYCP2 were changed from Male infertility to Spermatogenic failure 1, MIM# 258150",
"entity_name": "SYCP2",
"entity_type": "gene"
},
{
"created": "2025-08-26T17:04:41.214577+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SYCP2: Changed phenotypes: Spermatogenic failure 1, MIM# 258150",
"entity_name": "SYCP2",
"entity_type": "gene"
},
{
"created": "2025-08-26T16:56:42.392722+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental syndrome; Basal cell nevus syndrome, MIM# 109400 to Joubert syndrome 32, MIM#617757; Neurodevelopmental disorder, MONDO:0700092, SUFU-related; Basal cell nevus syndrome, MIM# 109400",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2025-08-26T16:56:19.457082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SUFU: Changed phenotypes: Joubert syndrome 32, MIM#617757, Neurodevelopmental disorder, MONDO:0700092, SUFU-related, Basal cell nevus syndrome, MIM# 109400",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2025-08-26T16:55:13.007750+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental disorder, Joubert-like to Joubert syndrome 32, MIM#617757; Neurodevelopmental disorder, MONDO:0700092, SUFU-related",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2025-08-26T16:52:53.429217+10:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUCO were changed from Osteogenesis imperfecta to Osteogenesis imperfecta, MONDO:0019019, SUCO-related",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-08-26T16:52:31.807110+10:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SUCO: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, MONDO:0019019, SUCO-related; Mode of inheritance: None",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-08-26T16:52:16.864547+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUCO were changed from Osteogenesis imperfecta to Osteogenesis imperfecta, MONDO:0019019, SUCO-related",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-08-26T16:51:57.480397+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SUCO: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, MONDO:0019019, SUCO-related; Mode of inheritance: None",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-08-26T16:50:53.530565+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STXBP3 were changed from Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation to Inborn error of immunity, MONDO:0003778, STXBP3-related",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2025-08-26T16:50:28.827856+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STXBP3: Changed phenotypes: Inborn error of immunity, MONDO:0003778, STXBP3-related",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2025-08-26T16:46:03.144887+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STXBP3 were changed from Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation to Inborn error of immunity, MONDO:0003778, STXBP3-related",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2025-08-26T16:45:35.552576+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STXBP3: Changed phenotypes: Inborn error of immunity, MONDO:0003778, STXBP3-related",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2025-08-26T16:45:20.016538+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STXBP3 were changed from Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation to Inborn error of immunity, MONDO:0003778, STXBP3-related",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2025-08-26T16:45:05.064100+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STXBP3: Changed phenotypes: Inborn error of immunity, MONDO:0003778, STXBP3-related",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2025-08-26T16:44:47.504007+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STXBP3 were changed from Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation to Inborn error of immunity, MONDO:0003778, STXBP3-related",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2025-08-26T16:44:20.856531+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STXBP3: Changed phenotypes: Inborn error of immunity, MONDO:0003778, STXBP3-related",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2025-08-26T15:33:12.599568+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RBM10 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2025-08-26T14:55:44.164922+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.178",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "reviewed gene: TRIO: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32109419, 28796471; Phenotypes: Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MIM#617061), Intellectual developmental disorder, autosomal dominant 63, with macrocephaly (MIM#618825), Syndromic intellectual disability (MONDO:0000508), TRIO-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2025-08-26T14:00:38.493851+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRGAP1 were changed from congenital anomalies of the kidney and urinary tract to CAKUT, MONDO:0019719, SRGAP1-related",
"entity_name": "SRGAP1",
"entity_type": "gene"
},
{
"created": "2025-08-26T14:00:26.881984+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SRGAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: CAKUT, MONDO:0019719, SRGAP1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SRGAP1",
"entity_type": "gene"
},
{
"created": "2025-08-26T14:00:05.951399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRGAP1 were changed from CAKUT to CAKUT, MONDO:0019719, SRGAP1-related",
"entity_name": "SRGAP1",
"entity_type": "gene"
},
{
"created": "2025-08-26T13:59:49.855946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SRGAP1: Changed rating: AMBER; Changed phenotypes: CAKUT, MONDO:0019719, SRGAP1-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SRGAP1",
"entity_type": "gene"
},
{
"created": "2025-08-26T12:14:09.797225+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.95",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: TLN1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 39163585, 30888838; Phenotypes: Idiopathic spontaneous coronary artery dissection MONDO:0007385; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2025-08-25T10:30:34.518863+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH3 as ready",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2025-08-25T10:30:34.507779+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2025-08-25T10:30:25.843711+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOTCH3 as Amber List (moderate evidence)",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2025-08-25T10:30:25.833653+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2025-08-25T10:29:51.492677+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOTCH3 was added\ngene: NOTCH3 was added to Lipodystrophy_Lipoatrophy. Sources: Literature\nMode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOTCH3 were set to 39652711\nPhenotypes for gene: NOTCH3 were set to Lipodystrophy, familial partial, type 1, MIM#608600\nReview for gene: NOTCH3 was set to AMBER\nAdded comment: Three families reported with novel missense variants in NOTCH3 and partial lipodystrophy. Variant segregated with phenotype in 4 affected individuals of one family but no additional supportive data presented. Some functional data to suggest GoF mechanism. \nSources: Literature",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2025-08-22T17:15:13.162496+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.24",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-08-22T17:11:01.014679+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.36",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-08-22T17:07:51.955220+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SGMS2 as Red List (low evidence)",
"entity_name": "SGMS2",
"entity_type": "gene"
},
{
"created": "2025-08-22T17:07:51.942237+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sgms2 has been classified as Red List (Low Evidence).",
"entity_name": "SGMS2",
"entity_type": "gene"
},
{
"created": "2025-08-22T17:07:41.057836+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SGMS2 as Red List (low evidence)",
"entity_name": "SGMS2",
"entity_type": "gene"
},
{
"created": "2025-08-22T17:07:41.037182+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sgms2 has been classified as Red List (Low Evidence).",
"entity_name": "SGMS2",
"entity_type": "gene"
},
{
"created": "2025-08-22T17:07:09.623490+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.34",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SGMS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SGMS2",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:59:15.055751+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COPZ1 as ready",
"entity_name": "COPZ1",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:59:15.022947+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copz1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COPZ1",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:59:08.628151+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COPZ1 as Amber List (moderate evidence)",
"entity_name": "COPZ1",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:59:08.618513+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copz1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COPZ1",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:58:53.286781+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COPZ1 was added\ngene: COPZ1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: COPZ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COPZ1 were set to 39642330\nPhenotypes for gene: COPZ1 were set to Severe congenital neutropenia, autosomal recessive, MONDO:0028226, COPZ1-related\nReview for gene: COPZ1 was set to AMBER\nAdded comment: 3 individuals from 2 unrelated families reported. A pair of siblings with homozygous LoF variant and a more severe phenotype, comprising other immune defects, neurological and skeletal features. An additional individual with homozygous missense variant and a milder phenotype of isolated neutropenia. Some supportive functional data. AMBER rating as only two families and homozygous variants. \nSources: Literature",
"entity_name": "COPZ1",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:57:32.247300+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COPZ1 as ready",
"entity_name": "COPZ1",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:57:32.237361+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copz1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COPZ1",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:57:29.929177+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COPZ1 as Amber List (moderate evidence)",
"entity_name": "COPZ1",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:57:29.917281+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copz1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COPZ1",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:57:07.887998+10:00",
"panel_name": "Hypophosphataemia or rickets",
"panel_id": 122,
"panel_version": "0.42",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel name changed from Hypophosphataemic Rickets to Hypophosphataemia or rickets",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-08-22T16:57:04.044669+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COPZ1 was added\ngene: COPZ1 was added to Phagocyte Defects. Sources: Literature\nMode of inheritance for gene: COPZ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COPZ1 were set to 39642330\nPhenotypes for gene: COPZ1 were set to Severe congenital neutropenia, autosomal recessive, MONDO:0028226, COPZ1-related\nReview for gene: COPZ1 was set to AMBER\nAdded comment: 3 individuals from 2 unrelated families reported. A pair of siblings with homozygous LoF variant and a more severe phenotype, comprising other immune defects, neurological and skeletal features. An additional individual with homozygous missense variant and a milder phenotype of isolated neutropenia. Some supportive functional data.\r\n\r\nAMBER rating as only two families and homozygous variants. \nSources: Literature",
"entity_name": "COPZ1",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:53:46.077826+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2865",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CYP3A4 as Amber List (moderate evidence)",
"entity_name": "CYP3A4",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:53:46.066626+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2865",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cyp3a4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYP3A4",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:53:32.892408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2864",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: CYP3A4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38179381, 29461981, 36656330; Phenotypes: Vitamin D-dependent rickets, type 3, MIM#619073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CYP3A4",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:52:18.799071+10:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.41",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CYP3A4 as Amber List (moderate evidence)",
"entity_name": "CYP3A4",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:52:18.783279+10:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.41",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cyp3a4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYP3A4",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:52:00.080074+10:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CYP3A4 as Red List (low evidence)",
"entity_name": "CYP3A4",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:52:00.067991+10:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cyp3a4 has been classified as Red List (Low Evidence).",
"entity_name": "CYP3A4",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:51:10.429328+10:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CYP3A4 was added\ngene: CYP3A4 was added to Hypophosphataemic Rickets. Sources: Expert Review\nMode of inheritance for gene: CYP3A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CYP3A4 were set to PMID: 38179381, 29461981, 36656330\nPhenotypes for gene: CYP3A4 were set to Vitamin D-dependent rickets, type 3, MIM#619073\nReview for gene: CYP3A4 was set to AMBER\nAdded comment: Vitamin D-dependent rickets-3 (VDDR3) is characterized by early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, hypocalcaemia and hypophosphataemia. 4 cases reported with the same missense variant (I301T).\r\n\r\nRoizen et al 2018 (PMID 29461981)\r\n2 unrelated females (European and Middle Eastern ancestry) with vitamin D deficient rickets.\r\nWES identified the same missense variant (I301T) in both individuals.\r\n\r\nMantoanelli et al 2023 (PMID 36656330)\r\n1 individual with poor growth and bone deformities (i.e. rickets) with no family history, and the same missense variant (I301T). \r\n\r\nAl-Ashwal et al 2023 (PMID 38179381)\r\n1 individual (Middle Eastern ancestry) with poor growth, bone deformities (e.g. rickets, genu valgum), reduced 25-hydroxyvitamin, hypocalcaemia and normal phosphate. WES identified the same missense variant (I301T). She had a strong family history of rickets, but segregation not reported. \nSources: Expert Review",
"entity_name": "CYP3A4",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:34:29.979747+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2864",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PLEKHN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary sensory and autonomic neuropathy, MONDO:0015364, PLEKHN1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLEKHN1",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:29:09.527732+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "1.6",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel types changed to Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-08-22T16:26:55.535699+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "1.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TBX1 as Green List (high evidence)",
"entity_name": "TBX1",
"entity_type": "gene"
}
]
}