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{
"count": 220817,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=186",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=184",
"results": [
{
"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"
},
{
"created": "2025-08-22T16:26:55.525619+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "1.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tbx1 has been classified as Green List (High Evidence).",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:26:49.541857+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "1.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TBX1 was added\ngene: TBX1 was added to Familial hypoparathyroidism. Sources: Expert list,Literature\nMode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBX1 were set to PMID: 20301696, 16684884, 14585638, 30137364\nPhenotypes for gene: TBX1 were set to DiGeorge syndrome MIM# 188400; Velocardiofacial syndrome MIM# 192430; Decreased T cells; Hypoparathyroidism; Conotruncal cardiac malformation; velopalatal insufficiency; abnormal facies (cleft palate, prominent tubular nose etc); intellectual disability; Immunodeficiency; thymic hypoplasia or aplasia with resultant T‐cell dysfunction; renal anomalies; autoimmunity\nReview for gene: TBX1 was set to GREEN\nAdded comment: Well-established disease-gene association with DiGeorge syndrome and Velocardiofacial syndrome; multiple mouse models Most common micro-deletion syndrome (22q11.2 Deletion Syndrome) which can lead to diverse clinical features comprising a triad of immunodeficiency, hypoparathyroidism, and congenital heart defect in addition to renal anomalies, autoimmunity.\r\n\r\nHypoparathyroidism and subsequent hypocalcemia is present in 17%-60% of persons with 22q11.2DS and is typically most serious in the neonatal period. \nSources: Expert list, Literature",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:12:48.672954+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2864",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: ClinGen has now lumped the 2 OMIM conditions under the general term \"neuromuscular disease MONDO:0019056\" however, \"hereditary peripheral neuropathy MONDO:0020127, PLEKHG5-related\" is a better description of the condition; to: ClinGen has now lumped the 2 OMIM conditions under the general term \"neuromuscular disease MONDO:0019056\" however, \"hereditary peripheral neuropathy MONDO:0020127, PLEKHG5-related\" is a better description of the condition",
"entity_name": "PLEKHG5",
"entity_type": "gene"
},
{
"created": "2025-08-22T16:12:28.927139+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2864",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PLEKHG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hereditary peripheral neuropathy MONDO:0020127, PLEKHG5-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLEKHG5",
"entity_type": "gene"
},
{
"created": "2025-08-22T06:58:20.088684+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.7",
"user_name": "Jorune Balciuniene",
"item_type": "entity",
"text": "gene: F9 was added\ngene: F9 was added to Genomic newborn screening: ICoNS. Sources: Expert list\nMode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: F9 were set to Hemophilia B\nPenetrance for gene: F9 were set to Complete",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2025-08-22T06:44:03.634051+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Discussed at ICoNS Gene List Subcommittee meeting on 22/08/2025.\r\n\r\nOriginally excluded by BabyScreen+ study due to concerns about mappability especially on ES. On further assessment, issue is less pronounced on WGS and subsequently upgraded.\r\n\r\nTherefore there is full consensus to include this gene in gNBS studies.; to: Discussed at ICoNS Gene List Subcommittee meeting on 22/08/2025.\r\n\r\nOriginally excluded by BabyScreen+ study due to concerns about mappability especially on ES. On further assessment, issue is less pronounced on WGS and gene subsequently included in the study.\r\n\r\nTherefore there is full consensus to include this gene in gNBS studies.",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2025-08-22T06:37:21.412568+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CBS as ready",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2025-08-22T06:37:21.406023+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbs has been classified as Green List (High Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2025-08-22T06:37:16.493123+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CBS were set to ",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2025-08-22T06:37:09.016318+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CBS as Green List (high evidence)",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2025-08-22T06:37:09.009930+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbs has been classified as Green List (High Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2025-08-22T06:36:46.116283+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27778219; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types MIM#236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2025-08-21T16:36:07.472222+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.43",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: YARS was added\ngene: YARS was added to Hyperinsulinism. Sources: Literature\nMode of inheritance for gene: YARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YARS were set to PMID: 33490854\nPhenotypes for gene: YARS were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418\nReview for gene: YARS was set to RED\nAdded comment: Multisystemic disorder characterized by cholestatic hepatitis, poor feeding, poor overall growth, and hypoglycemia apparent from infancy. Most have variable global developmental delay. Additional common features include sensorineural deafness and retinal abnormalities with visual defects. Some patients have pancreatic dysfunction, hypothyroidism, and primary amenorrhea.\r\n\r\nPMID: 33490854- only 1 case of hyperinsulinaemic hypoglycaemia, \nSources: Literature",
"entity_name": "YARS",
"entity_type": "gene"
},
{
"created": "2025-08-21T16:24:56.806260+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.42",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TRMT10A as Red List (low evidence)",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2025-08-21T16:24:56.794834+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.42",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: trmt10a has been classified as Red List (Low Evidence).",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2025-08-21T16:23:48.773818+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.41",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TRMT10A: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 25053765; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2025-08-21T16:15:56.866407+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.41",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MPI as Red List (low evidence)",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2025-08-21T16:15:56.855184+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.41",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mpi has been classified as Red List (Low Evidence).",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2025-08-21T16:15:22.716849+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: MPI: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29531722; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2025-08-21T16:11:05.137623+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: HRAS as Green List (high evidence)",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2025-08-21T16:11:05.127458+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hras has been classified as Green List (High Evidence).",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2025-08-21T16:10:34.282136+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HRAS was added\ngene: HRAS was added to Hyperinsulinism. Sources: Literature\nMode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HRAS were set to PMID: 16278907, 25668678, 33224014, 37454648, 37065762\nPhenotypes for gene: HRAS were set to Costello syndrome MONDO:0009026\nReview for gene: HRAS was set to GREEN\nAdded comment: Well established gene-disease association.\r\n\r\nNeonatal hypoglycemia is quite common (44%), but hyperinsulinemic hypoglycemia has only occasionally been documented. \nSources: Literature",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2025-08-21T16:03:51.167520+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.38",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: EIF2S3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30878599; Phenotypes: MEHMO syndrome, MIM# 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2025-08-21T16:00:17.719141+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.38",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FAH as Green List (high evidence)",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2025-08-21T16:00:17.708417+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.38",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fah has been classified as Green List (High Evidence).",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2025-08-21T15:59:18.517775+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.37",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FAH was added\ngene: FAH was added to Hyperinsulinism. Sources: Literature\nMode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAH were set to PMID: 15877201\nPhenotypes for gene: FAH were set to Tyrosinemia type I MONDO:0010161\nReview for gene: FAH was set to GREEN\nAdded comment: Well established gene-disease association.\r\n\r\nPMID: 15877201 reported 3 individuals with Tyrosinaemia type I and acute liver dysfunction. Hyperinsulinemic hypoglycemia was seen in early infancy and all were successfully treated with diazoxide and chlorthiazide, with treatment gradually withdrawn. The mechanism of pancreatic dysfunction is unknown but may be related to accumulation of toxic metabolites. \nSources: Literature",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2025-08-21T15:46:09.830252+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.36",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: ADK were set to PMID: 26642971, 21963049",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2025-08-21T15:45:50.388669+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: CDKN1C were set to ",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2025-08-21T15:44:04.962630+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.34",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CDKN1C as Green List (high evidence)",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2025-08-21T15:44:04.951925+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.34",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cdkn1c has been classified as Green List (High Evidence).",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2025-08-21T15:43:37.230637+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.33",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CDKN1C was added\ngene: CDKN1C was added to Hyperinsulinism. Sources: Expert list\nMode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPhenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome due to CDKN1C mutation MONDO:0016476\nReview for gene: CDKN1C was set to GREEN\nAdded comment: Well established gene-disease association.\r\nHyperinsulinaemic hypoglycemia well documented. \nSources: Expert list",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2025-08-21T15:36:01.110264+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.32",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ADK as Green List (high evidence)",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2025-08-21T15:36:01.098847+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.32",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: adk has been classified as Green List (High Evidence).",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2025-08-21T15:34:07.426991+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.31",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ADK was added\ngene: ADK was added to Hyperinsulinism. Sources: Literature\nMode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADK were set to PMID: 26642971, 21963049\nPhenotypes for gene: ADK were set to Adenosine kinase deficiency MONDO:0100255\nReview for gene: ADK was set to GREEN\nAdded comment: A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism. Epileptic seizures, hypoglycemia and/or cardiac defects may be associated.\r\n\r\nPMID: 26642971 reported 11 patients from 8 families.\r\n9/11 had recurrent hypoglycemia (4 in neonatal period).\r\n-3/9 had hyperinsulinism as the underlying cause (not studied in most other cases). \r\n-2/11 were treated with diazoxide with good response. \nSources: Literature",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2025-08-21T15:05:30.855027+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.18",
"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": "2025-08-21T15:01:06.645846+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TBCE as Red List (low evidence)",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-08-21T15:01:06.633274+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tbce has been classified as Red List (Low Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-08-21T15:00:56.056431+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TBCE as Red List (low evidence)",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-08-21T15:00:56.030051+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tbce has been classified as Red List (Low Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-08-21T15:00:34.007507+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TBCE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-08-21T14:59:24.165020+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: HOXD13 as Green List (high evidence)",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-21T14:59:24.152824+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hoxd13 has been classified as Green List (High Evidence).",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-21T14:59:12.981795+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: HOXD13 as Green List (high evidence)",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-21T14:59:12.966823+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hoxd13 has been classified as Green List (High Evidence).",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-21T14:56:32.272040+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: HDAC4 as Red List (low evidence)",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2025-08-21T14:56:32.261876+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hdac4 has been classified as Red List (Low Evidence).",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2025-08-21T14:56:15.122569+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: HDAC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2025-08-21T14:54:20.215970+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: HOXD13: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34777468, 12649808; Phenotypes: Brachydactyly, type E, 113300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-21T14:52:23.524776+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-21T14:49:41.358884+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: Type E brachydactyly with shortening mainly of the metacarpals and metatarsals, but in some cases the phalanges as well. Some individuals have moderate short stature and round facies but do not have ectopic ossification or intellectual disability. \r\n\r\nPhenotype similar to Albright Hereditary Osteodystrophy but no hormone resistance.; to: Established gene-disease association, multiple families reported.\r\n\r\nType E brachydactyly with shortening mainly of the metacarpals and metatarsals, but in some cases the phalanges as well. Some individuals have moderate short stature and round facies but do not have ectopic ossification or intellectual disability. \r\n\r\nPhenotype similar to Albright Hereditary Osteodystrophy but no hormone resistance.",
"entity_name": "PTHLH",
"entity_type": "gene"
},
{
"created": "2025-08-21T14:48:42.106647+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PTHLH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20015959, 34897794, 29947179, 28211986; Phenotypes: Brachydactyly, type E2, MIM# 613382; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTHLH",
"entity_type": "gene"
},
{
"created": "2025-08-21T14:46:51.965861+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PRMT7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26437029, 27718516, 30513135; Phenotypes: Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRMT7",
"entity_type": "gene"
},
{
"created": "2025-08-21T14:43:53.151305+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: Not associated with Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy; to: Not associated with Pseudohypoparathyroidism or Albright Hereditary Osteodystrophy",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-21T14:43:04.417996+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoparathyroidism Ia (103580) AD, Pseudohypoparathyroidism Ib (603233) AD, Pseudohypoparathyroidism Ic (612462) AD, Pseudopseudohypoparathyroidism (612463), Osseous heteroplasia, progressive (166350) AD, Pituitary adenoma 3, multiple types, somatic (617686); Mode of inheritance: Other",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2025-08-21T14:39:34.196572+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21651393, 22464250; Phenotypes: Acrodysostosis 1, with or without hormone resistance, MIM# 101800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2025-08-21T14:35:25.566104+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22464250, 22464252, 23033274, 24203977; Phenotypes: Acrodysostosis 2, with or without hormone resistance, MIM# 614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2025-08-21T14:30:38.723163+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: HOXD13 as Red List (low evidence)",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-21T14:30:38.706338+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hoxd13 has been classified as Red List (Low Evidence).",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-21T14:30:21.044338+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: HOXD13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type E 113300, Brachydactyly, type D, MIM# 113200, Syndactyly, type V, MIM# 186300 Synpolydactyly 1, MIM# 186000, Brachydactyly-syndactyly syndrome, MIM# 610713; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-21T13:43:33.062455+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM33 were changed from to Developmental dysplasia of the hip 4, MIM# 621311",
"entity_name": "TRIM33",
"entity_type": "gene"
},
{
"created": "2025-08-21T13:43:18.815732+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIM33 were set to ",
"entity_name": "TRIM33",
"entity_type": "gene"
},
{
"created": "2025-08-21T13:43:03.033488+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIM33 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIM33",
"entity_type": "gene"
},
{
"created": "2025-08-21T13:42:04.079455+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRIM33: Added comment: Four siblings with homozygous single aa insertion reported.; Changed publications: 39054052; Changed phenotypes: Developmental dysplasia of the hip 4, MIM# 621311; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIM33",
"entity_type": "gene"
},
{
"created": "2025-08-21T13:29:32.903223+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.374",
"user_name": "Rachel Wong",
"item_type": "entity",
"text": "reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34925443; Phenotypes: nystagmus, retinal dystrophy, autism, anxiety, ataxia, learning difficulties; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2025-08-20T16:51:37.690592+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPOP were changed from Intellectual disability; dysmorphism; microcephaly; macrocephaly to Nabais Sa-de Vries syndrome, type 1 MIM#618828; Nabais Sa-de Vries syndrome, type 2, MIM#618829",
"entity_name": "SPOP",
"entity_type": "gene"
},
{
"created": "2025-08-20T16:51:22.192848+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPOP: Changed phenotypes: Nabais Sa-de Vries syndrome, type 1 MIM#618828, Nabais Sa-de Vries syndrome, type 2, MIM#618829",
"entity_name": "SPOP",
"entity_type": "gene"
},
{
"created": "2025-08-20T16:51:04.198838+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": "Phenotypes for gene: SPOP were changed from Intellectual disability; dysmorphism; microcephaly; macrocephaly to Nabais Sa-de Vries syndrome, type 1 MIM#618828; Nabais Sa-de Vries syndrome, type 2, MIM#618829",
"entity_name": "SPOP",
"entity_type": "gene"
},
{
"created": "2025-08-20T16:49:12.560205+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPOP: Changed phenotypes: Nabais Sa-de Vries syndrome, type 1 MIM#618828, Nabais Sa-de Vries syndrome, type 2, MIM#618829",
"entity_name": "SPOP",
"entity_type": "gene"
},
{
"created": "2025-08-20T16:47:49.585104+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPOP: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SPOP-related",
"entity_name": "SPOP",
"entity_type": "gene"
},
{
"created": "2025-08-20T16:29:53.624926+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPATC1L were changed from Deafness to Hearing loss disorder, MONDO:0005365 SPATC1L-related",
"entity_name": "SPATC1L",
"entity_type": "gene"
},
{
"created": "2025-08-20T16:29:27.260736+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPATC1L: Changed phenotypes: Hearing loss disorder, MONDO:0005365 SPATC1L-related",
"entity_name": "SPATC1L",
"entity_type": "gene"
},
{
"created": "2025-08-20T16:27:53.087935+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPATC1L were changed from Deafness to Hearing loss disorder, MONDO:0005365 SPATC1L-related",
"entity_name": "SPATC1L",
"entity_type": "gene"
},
{
"created": "2025-08-20T16:27:31.281507+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPATC1L: Changed phenotypes: Hearing loss disorder, MONDO:0005365 SPATC1L-related",
"entity_name": "SPATC1L",
"entity_type": "gene"
},
{
"created": "2025-08-20T15:53:20.435335+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOHLH2 were changed from Premature ovarian failure to Inherited premature ovarian failure MONDO:0019852, SOHLH2-related",
"entity_name": "SOHLH2",
"entity_type": "gene"
},
{
"created": "2025-08-20T15:53:05.609772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SOHLH2: Changed phenotypes: Inherited premature ovarian failure MONDO:0019852, SOHLH2-related",
"entity_name": "SOHLH2",
"entity_type": "gene"
},
{
"created": "2025-08-20T15:52:52.036374+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOHLH2 were changed from Premature ovarian failure to Inherited premature ovarian failure MONDO:0019852, SOHLH2-related",
"entity_name": "SOHLH2",
"entity_type": "gene"
},
{
"created": "2025-08-20T15:50:48.045241+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SOHLH2: Changed phenotypes: Inherited premature ovarian failure MONDO:0019852, SOHLH2-related",
"entity_name": "SOHLH2",
"entity_type": "gene"
},
{
"created": "2025-08-20T15:44:34.469649+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOD2 were changed from {Microvascular complications of diabetes 6} 612634; Lethal neonatal dilated cardiomyopathy to {Microvascular complications of diabetes 6} 612634; Dilated cardiomyopathy MONDO:0005021, lethal neonatal, SOD2-related",
"entity_name": "SOD2",
"entity_type": "gene"
},
{
"created": "2025-08-20T15:43:43.917668+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOD2 were changed from Lethal neonatal dilated cardiomyopathy to Dilated cardiomyopathy MONDO:0005021, lethal neonatal, SOD2-related",
"entity_name": "SOD2",
"entity_type": "gene"
},
{
"created": "2025-08-20T15:43:14.417237+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SOD2: Changed phenotypes: Dilated cardiomyopathy MONDO:0005021, lethal neonatal, SOD2-related",
"entity_name": "SOD2",
"entity_type": "gene"
},
{
"created": "2025-08-20T15:41:54.999105+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOBP were changed from Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671 to Impaired intellectual development, anterior maxillary protrusion, and strabismus, MIM# 613671",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2025-08-20T15:41:30.378806+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SOBP: Changed phenotypes: Impaired intellectual development, anterior maxillary protrusion, and strabismus, MIM# 613671",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2025-08-20T15:41:15.452030+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOBP were changed from Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671 to Impaired intellectual development, anterior maxillary protrusion, and strabismus, MIM# 613671",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2025-08-20T15:40:54.271212+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SOBP: Changed phenotypes: Impaired intellectual development, anterior maxillary protrusion, and strabismus, MIM# 613671",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2025-08-20T15:40:46.152128+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SOBP: Changed phenotypes: mpaired intellectual development, anterior maxillary protrusion, and strabismus, MIM# 613671",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2025-08-20T15:39:58.675508+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNX27 were changed from intellectual disability; seizures to Neurodevelopmental disorder MONDO:0700092, SNX27-related",
"entity_name": "SNX27",
"entity_type": "gene"
},
{
"created": "2025-08-20T15:39:36.267231+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SNX27: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, SNX27-related",
"entity_name": "SNX27",
"entity_type": "gene"
},
{
"created": "2025-08-20T15:39:21.165876+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNX27 were changed from intellectual disability; seizures to Neurodevelopmental disorder MONDO:0700092, SNX27-related",
"entity_name": "SNX27",
"entity_type": "gene"
},
{
"created": "2025-08-20T15:38:55.279874+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SNX27: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, SNX27-related",
"entity_name": "SNX27",
"entity_type": "gene"
}
]
}