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{
"count": 220759,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=171",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=169",
"results": [
{
"created": "2025-09-11T12:31:15.231544+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POMT1: Added comment: Lumped by ClinGen.; Changed phenotypes: Myopathy caused by variation in POMT1 MONDO:0700070",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:30:45.496593+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308 to Myopathy caused by variation in POMT1 MONDO:0700070",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:30:22.339229+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POMT1: Changed phenotypes: Myopathy caused by variation in POMT1 MONDO:0700070",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:29:40.746847+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 618135 to Myopathy caused by variation in POMGNT2 MONDO:0700069",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:29:14.162946+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POMGNT2: Added comment: Lumped by ClinGen.; Changed phenotypes: Myopathy caused by variation in POMGNT2 MONDO:0700069",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:28:49.642824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM# 618135 to Myopathy caused by variation in POMGNT2 MONDO:0700069",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:27:43.906282+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157 to Myopathy caused by variation in POMGNT1 MONDO:0700068",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:27:15.817256+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POMGNT1: Added comment: Lumped by ClinGen.; Changed phenotypes: Myopathy caused by variation in POMGNT1 MONDO:0700068",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:26:52.439824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135; Retinitis pigmentosa 76 617123 to Myopathy caused by variation in POMGNT1 MONDO:0700068; Retinitis pigmentosa 76 617123",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:26:02.689035+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR6A1 were set to 39606382",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:25:38.343869+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NR6A1: Added comment: PMID: 40774958 - Additional 10x individuals identified from a CAKUT cohort with kidney, eye, and other congenital anomalies.; Changed publications: 40774958",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:24:36.877689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR6A1 were set to 39606382",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:23:54.990187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARID3A were changed from Cornelia de Lange syndrome - MONDO:0016033 to Congenital anomaly of kidney and urinary tract, MONDO:0019719, ARID3A-related; Cornelia de Lange syndrome - MONDO:0016033",
"entity_name": "ARID3A",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:23:33.454675+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARID3A were set to PMID: 40677927",
"entity_name": "ARID3A",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:23:10.845550+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARID3A as Amber List (moderate evidence)",
"entity_name": "ARID3A",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:23:10.832472+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arid3a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARID3A",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:22:39.574462+10:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MIR184 as ready",
"entity_name": "MIR184",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:22:39.561709+10:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mir184 has been classified as Green List (High Evidence).",
"entity_name": "MIR184",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:22:35.398935+10:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIR184 as Green List (high evidence)",
"entity_name": "MIR184",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:22:35.391965+10:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mir184 has been classified as Green List (High Evidence).",
"entity_name": "MIR184",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:21:38.071615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED14 as ready",
"entity_name": "MED14",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:21:38.064346+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med14 has been classified as Red List (Low Evidence).",
"entity_name": "MED14",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:21:29.693919+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED14 as Red List (low evidence)",
"entity_name": "MED14",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:21:29.683166+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med14 has been classified as Red List (Low Evidence).",
"entity_name": "MED14",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:20:42.549803+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NXT2 as ready",
"entity_name": "NXT2",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:20:42.542735+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nxt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NXT2",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:20:39.443143+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NXT2 as Amber List (moderate evidence)",
"entity_name": "NXT2",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:20:39.436216+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nxt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NXT2",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:20:24.461862+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NXT2 as ready",
"entity_name": "NXT2",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:20:24.454587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nxt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NXT2",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:20:03.241788+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NXT2 as Amber List (moderate evidence)",
"entity_name": "NXT2",
"entity_type": "gene"
},
{
"created": "2025-09-11T12:20:03.234328+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nxt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NXT2",
"entity_type": "gene"
},
{
"created": "2025-09-11T09:00:07.013625+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP5A1 as ready",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T09:00:07.006133+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5a1 has been classified as Green List (High Evidence).",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:59:40.918325+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP5A1 as Green List (high evidence)",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:59:40.907307+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5a1 has been classified as Green List (High Evidence).",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:59:28.861655+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP5A1 was added\ngene: ATP5A1 was added to Dystonia - complex. Sources: Literature\nnew gene name tags were added to gene: ATP5A1.\nMode of inheritance for gene: ATP5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP5A1 were set to 34483339; 34954817; 40859057\nPhenotypes for gene: ATP5A1 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A (MIM#620358), AD\nReview for gene: ATP5A1 was set to GREEN\nAdded comment: At least 12 individuals reported with de novo missense variants in this gene, several recurrent.\r\n\r\nPMIDs: 34483339, 34954817: 6xde novo patients 4 with Arg207His, 1 Arg182Gln 1 Ser346Phe. All Arg207His patients were neonates with failure to thrive, hyperammonemia, lactic acidosis, and respiratory defects in fibroblasts, major symptoms remitted with treatment by late infancy, and at age 14mo to 3yrs growth and development were normal. Other 2 patients are 17yo with ID, ataxia, spastic paraparesis and dystonia, and a 12yo with psychomotor retardation, spastic tetraparesis, generalised dystonia, absent speech, swallowing problems, and increased blood lactate concentrations.\r\n\r\nAnd an internal VCGS patient Arg182Gln (variant also seen in a different patient above) with ID, muscular hypotonia, clinodactyly of the 5th finger, and dysmorphic facial features, proteomics showed decreased ATP5F1A and a complex V deficiency. There is also an alternative change at this residue in the DECIPHER cohort Arg182Pro de novo in an individual with a neurodevelopmental disorder.\r\n\r\nPMID: 40672495: 6x de novo individuals - 4 variants p.Arg182Gln, p.Ser346Phe, p.Pro331Leu, and p.Leu109Ser - with complex but overlapping neurological phenotypes including developmental delays, intellectual disability, pyramidal tract dysfunction, and dystonia.\r\n\r\nIn vivo functional studies in C. elegans were performed for three of the variants, showing growth defects and disruption of mitochondrial function (measured by mitochondrial stress). Authors suggest a dominant negative mechanism. \nSources: Literature",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:59:11.668379+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ATP5A1.",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:57:48.490233+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP5A1 as ready",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:57:48.331913+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5a1 has been classified as Green List (High Evidence).",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:57:32.948363+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP5A1 as Green List (high evidence)",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:57:32.927951+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5a1 has been classified as Green List (High Evidence).",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:56:58.241939+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP5A1 was added\ngene: ATP5A1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ATP5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP5A1 were set to 34483339; 34954817; 40859057\nPhenotypes for gene: ATP5A1 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A (MIM#620358), AD\nReview for gene: ATP5A1 was set to GREEN\nAdded comment: At least 12 individuals reported with de novo missense variants in this gene, several recurrent.\r\n\r\nPMIDs: 34483339, 34954817: 6xde novo patients 4 with Arg207His, 1 Arg182Gln 1 Ser346Phe. All Arg207His patients were neonates with failure to thrive, hyperammonemia, lactic acidosis, and respiratory defects in fibroblasts, major symptoms remitted with treatment by late infancy, and at age 14mo to 3yrs growth and development were normal. Other 2 patients are 17yo with ID, ataxia, spastic paraparesis and dystonia, and a 12yo with psychomotor retardation, spastic tetraparesis, generalised dystonia, absent speech, swallowing problems, and increased blood lactate concentrations.\r\n\r\nAnd an internal VCGS patient Arg182Gln (variant also seen in a different patient above) with ID, muscular hypotonia, clinodactyly of the 5th finger, and dysmorphic facial features, proteomics showed decreased ATP5F1A and a complex V deficiency. There is also an alternative change at this residue in the DECIPHER cohort Arg182Pro de novo in an individual with a neurodevelopmental disorder.\r\n\r\nPMID: 40672495: 6x de novo individuals - 4 variants p.Arg182Gln, p.Ser346Phe, p.Pro331Leu, and p.Leu109Ser - with complex but overlapping neurological phenotypes including developmental delays, intellectual disability, pyramidal tract dysfunction, and dystonia.\r\n\r\nIn vivo functional studies in C. elegans were performed for three of the variants, showing growth defects and disruption of mitochondrial function (measured by mitochondrial stress). Authors suggest a dominant negative mechanism. \nSources: Literature",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:52:19.014672+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP5A1 were changed from Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A (MIM#620358); Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:52:02.113439+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP5A1 were set to 23599390, 34954817, 34483339",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:51:21.537626+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP5A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:50:59.402617+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated families.; to: Two unrelated families with biallelic disease. Evidence for bi-allelic disease is limited. In one of the families, PMID 23599390, only a paternally inherited variant was identified, maternal variant presumed based on functional studies but not actually identified. In the other family, PMID 23596069, the variant identified is a homozygous missense.",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:49:54.156035+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP5A1 were changed from Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A MIM#620358; Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:49:24.460074+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP5A1 were set to 23599390",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:48:50.444230+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP5A1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:48:08.542625+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP5A1: Changed publications: 23599390, 23596069",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:47:55.082720+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated families.; to: Two unrelated families. Evidence for bi-allelic disease is limited. In one of the families, PMID 23599390, only a paternally inherited variant was identified, maternal variant presumed based on functional studies but not actually identified. In the other family, PMID 23596069, the variant identified is a homozygous missense.",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:45:43.180528+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP5A1 were changed from Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mitochondrial disorder, autosomal dominant to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A (MIM#620358); Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mitochondrial disorder, autosomal dominant",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:45:09.707802+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP5A1 were set to 23599390; 34483339",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:44:05.077385+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP5A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:43:27.977054+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP5A1: Changed rating: RED",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:43:16.600576+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP5A1: Changed publications: 23599390, 23596069",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:43:06.315912+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: One family described with each of these mitochondrial conditions.; to: One family described with each of these mitochondrial conditions. Evidence for bi-allelic disease is limited. In one of the families, PMID 23599390, only a paternally inherited variant was identified, maternal variant presumed based on functional studies but not actually identified. In the other family, PMID 23596069, the variant identified is a homozygous missense.",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:39:25.055202+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP5A1 as Green List (high evidence)",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-11T08:39:25.044158+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5a1 has been classified as Green List (High Evidence).",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-10T16:33:02.184777+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3050",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy caused by variation in POMT2 MONDO:0700071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2025-09-10T16:29:46.616417+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3050",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy caused by variation in POMT1 MONDO:0700070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2025-09-10T16:24:56.676189+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3050",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy caused by variation in POMGNT2 MONDO:0700069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2025-09-10T16:23:27.317866+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3050",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy caused by variation in POMGNT1 MONDO:0700068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2025-09-10T15:24:48.771172+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3050",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: NR6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40774958; Phenotypes: Oculovertebral syndrome MIM# 621277; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-09-10T15:15:40.158525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3050",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: ARID3A: Rating: AMBER; Mode of pathogenicity: None; Publications: 40774958; Phenotypes: Congenital anomaly of kidney and urinary tract, MONDO:0019719, ARID3A-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARID3A",
"entity_type": "gene"
},
{
"created": "2025-09-10T15:11:37.971400+10:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.12",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: MIR184 was added\ngene: MIR184 was added to Corneal Dystrophy. Sources: Literature\nMode of inheritance for gene: MIR184 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MIR184 were set to 40852795; 21996275; 22131394; 25373792; 24138095\nPhenotypes for gene: MIR184 were set to EDICT syndrome (MIM#614303)\nReview for gene: MIR184 was set to GREEN\nAdded comment: PMID: 40852795: Four individuals with Fuchs Endothelial Corneal Dystrophy (FECD) – three harboured n.58G>A and one with n.73G>T. No segregation testing was performed in this cohort. \r\n\r\nAt least 5 other families reported for EDICT syndrome (autosomal dominant syndromal anterior segment dysgenesis characterised by endothelial dystrophy, iris hypoplasia, congenital cataract, and thinning of the corneal stroma). Three had the same variant, (+57C>T). However, it has been suggested that his arose independently rather than being a founder variant (PMIDs: 21996275, 22131394, 25373792, 24138095). \nSources: Literature",
"entity_name": "MIR184",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:55:45.491322+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3050",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: MED14 was added\ngene: MED14 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MED14 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MED14 were set to PMID: 40597352\nPhenotypes for gene: MED14 were set to Neurodevelopmental disorder (MONDO:0700092), MED14-related\nReview for gene: MED14 was set to RED\nAdded comment: PMID: 40597352: 1x male with clinical VLCAD, developmental delay, microcephaly, hypotonia and brain anomalies. Identified a hemizygous, maternally inherited splice variant c.2365+2T>C, classified as VUS. RNA studies show that the variant results in an out-of-frame loss of the C-terminal end of exon 18 due to novel splice donor use in 1.72 percent of reads. \nSources: Literature",
"entity_name": "MED14",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:35:34.637516+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.29",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: NXT2 was added\ngene: NXT2 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: NXT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: NXT2 were set to PMID: 40624043; 35013161\nPhenotypes for gene: NXT2 were set to Spermatogenic failure, MONDO:0004983, NXT2-related\nReview for gene: NXT2 was set to AMBER\nAdded comment: PMID: 40624043\r\n- 1x hemi male with maternally inherited p.(Asp119*) – (p.Asp64* in MANE transcript) – absent from v4. Variant also present in two infertile brothers with azoospermia; absent in fertile father and brother. Over expression of the variant in HEK293T cells resulted in the complete absence of the truncated protein according to Western blot analysis.\r\n- 1x hemi male with p.(Ala90Ser) – (p.Ala35Ser in MANE transcript) – 85 hets, 42 hemis in v4. Variant is located near the start of an exon, minigene assay showed exon 4 skipping resulting in a PTC, but no quantification of aberrant transcript expression was performed. Over expression of the variant in HEK293T cells showed comparable protein expression to WT, and NXT2 staining was present in SOX9-positive Sertoli cells in the patient’s testis.\r\n- Above article also refers to an individual described in PMID: 35013161 – 1x male individual with a de novo 42 kb large deletion on the X chromosome encompassing the entire NXT2 gene. \nSources: Literature",
"entity_name": "NXT2",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:35:33.170290+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3050",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: NXT2 was added\ngene: NXT2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NXT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: NXT2 were set to PMID: 40624043; 35013161\nPhenotypes for gene: NXT2 were set to Spermatogenic failure, MONDO:0004983, NXT2-related\nReview for gene: NXT2 was set to AMBER\nAdded comment: PMID: 40624043\r\n- 1x hemi male with maternally inherited p.(Asp119*) – (p.Asp64* in MANE transcript) – absent from v4. Variant also present in two infertile brothers with azoospermia; absent in fertile father and brother. Over expression of the variant in HEK293T cells resulted in the complete absence of the truncated protein according to Western blot analysis.\r\n- 1x hemi male with p.(Ala90Ser) – (p.Ala35Ser in MANE transcript) – 85 hets, 42 hemis in v4. Variant is located near the start of an exon, minigene assay showed exon 4 skipping resulting in a PTC, but no quantification of aberrant transcript expression was performed. Over expression of the variant in HEK293T cells showed comparable protein expression to WT, and NXT2 staining was present in SOX9-positive Sertoli cells in the patient’s testis.\r\n- Above article also refers to an individual described in PMID: 35013161 – 1x male individual with a de novo 42 kb large deletion on the X chromosome encompassing the entire NXT2 gene. \nSources: Literature",
"entity_name": "NXT2",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:29:46.411370+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3050",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40672495; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A (MIM#620358); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:29:27.951959+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.998",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40672495; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A (MIM#620358); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:07:13.991320+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LDHD as ready",
"entity_name": "LDHD",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:07:13.984225+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ldhd has been classified as Green List (High Evidence).",
"entity_name": "LDHD",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:06:45.432921+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LDHD as Green List (high evidence)",
"entity_name": "LDHD",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:06:45.425789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ldhd has been classified as Green List (High Evidence).",
"entity_name": "LDHD",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:06:27.429933+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LDHD as ready",
"entity_name": "LDHD",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:06:27.420451+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ldhd has been classified as Green List (High Evidence).",
"entity_name": "LDHD",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:06:24.248608+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LDHD as Green List (high evidence)",
"entity_name": "LDHD",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:06:24.240544+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ldhd has been classified as Green List (High Evidence).",
"entity_name": "LDHD",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:05:32.294959+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CREB3 as ready",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:05:32.283865+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: creb3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:05:28.877958+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: CREB3.",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:05:19.026503+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CREB3 as Amber List (moderate evidence)",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:05:19.019380+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: creb3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:05:08.514852+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CREB3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:04:48.753079+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CREB3 as ready",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:04:48.744952+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: creb3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:04:45.638475+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CREB3 as Amber List (moderate evidence)",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:04:45.621903+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: creb3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:04:38.279092+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: CREB3.",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:04:30.238106+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CREB3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:04:04.792486+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CREB3 as ready",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:04:04.784757+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: creb3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:03:57.246065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CREB3 as Amber List (moderate evidence)",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:03:57.239028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: creb3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:03:02.653020+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: CREB3.",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:02:51.323487+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CREB3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:00:30.037116+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XPO1 as ready",
"entity_name": "XPO1",
"entity_type": "gene"
},
{
"created": "2025-09-10T13:00:30.018503+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpo1 has been classified as Green List (High Evidence).",
"entity_name": "XPO1",
"entity_type": "gene"
}
]
}