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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=182",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=180",
"results": [
{
"created": "2025-09-01T16:36:08.160817+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: borcs5 has been classified as Red List (Low Evidence).",
"entity_name": "BORCS5",
"entity_type": "gene"
},
{
"created": "2025-09-01T16:34:11.887931+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BORCS5 were set to 40621786; 7577667",
"entity_name": "BORCS5",
"entity_type": "gene"
},
{
"created": "2025-09-01T16:33:46.985658+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BORCS5: Changed publications: 40621786, 7577667, 40385417",
"entity_name": "BORCS5",
"entity_type": "gene"
},
{
"created": "2025-09-01T16:33:40.175318+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BORCS5 was added\ngene: BORCS5 was added to Osteopetrosis. Sources: Literature\nMode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BORCS5 were set to 40621786; 7577667\nPhenotypes for gene: BORCS5 were set to Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329)\nReview for gene: BORCS5 was set to RED\nAdded comment: Disease entity originally described in 1995 but genetic basis unknown. Report of consanguineous family with two affected fetuses, homozygous for same missense variant, p. Arg301His.\r\n\r\nHowever, note preprint PMID 40385417, describing 12 individuals from 7 families with a spectrum of abnormalities (osteopetrosis not mentioned), suggestive of lysosomal disorder.\r\n\r\nhomozygous loss-of-function variants presented with prenatally lethal arthrogryposis multiplex congenita, brain malformations, and neuropathological evidence of diffuse neuroaxonal dystrophy. Individuals with missense variants presented differently, with microcephaly, developmental epileptic encephalopathy, intellectual disability, optic atrophy, spasticity, and progressive movement disorders. In this group, brain MRI showed diffuse hypomyelination and progressive global cerebral atrophy, consistent with neurodegeneration. Borcs5 knockout in zebrafish exhibited microcephaly, motor deficits, and seizures, mirroring the patients' clinical presentation. At the cellular level, BORCS5 loss-of-function but not missense variants, resulted in lower protein expression and impaired BORC assembly, paralleled by perinuclear lysosomal clustering. However, both loss-of-function and missense BORCS5 variants were associated with reduced total lysosomal proteolysis, reduced activity of the lysosomal hydrolases glucocerebrosidase and cathepsin B, and presence of multilamellar bodies, indicating lysosomal dysfunction. \nSources: Literature",
"entity_name": "BORCS5",
"entity_type": "gene"
},
{
"created": "2025-09-01T16:33:35.662770+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.185",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: CSMD3 was added\ngene: CSMD3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CSMD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSMD3 were set to PMID: 40632521\nPhenotypes for gene: CSMD3 were set to Epilepsy, MONDO:0005027, CSMD3-related\nReview for gene: CSMD3 was set to GREEN\nAdded comment: CSMD3 encodes a synaptic membrane proteins and play a role in neuronal maturation/growth dendrites. A related protein CSMD1 has been previously associated with a complex neurodevelopmental disorder.\r\n\r\nPMID: 40632521 describes 8 individuals with seizures. 4 with focal epilepsy, 3 with febrile seizures and 1 individual with infantile spasms. 1 individual described had a de novo missense variant with remainder having comp het/biallelic variants. Mild ID in 1 individual only.\r\n\r\nVariant type mostly missense variants with 1 nonsense, all appropriately rare in gnomAD v4 for recessive disorder.\r\n\r\nNo variant specific functional studies performed, no clear discussion in paper about postulated mechanism for disease. No discussion around difference in mechanism for de novo monoallelic variant.\r\n\r\nPrevious studies showed homozygous knockout mice display abnormal neuronal proliferation and growth retardation. \nSources: Literature",
"entity_name": "CSMD3",
"entity_type": "gene"
},
{
"created": "2025-09-01T16:32:38.001414+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2925",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: CSMD3 was added\ngene: CSMD3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CSMD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSMD3 were set to PMID: 40632521\nPhenotypes for gene: CSMD3 were set to Epilepsy, MONDO:0005027, CSMD3-related\nReview for gene: CSMD3 was set to GREEN\nAdded comment: CSMD3 encodes a synaptic membrane proteins and play a role in neuronal maturation/growth dendrites. A related protein CSMD1 has been previously associated with a complex neurodevelopmental disorder.\r\n\r\nPMID: 40632521 describes 8 individuals with seizures. 4 with focal epilepsy, 3 with febrile seizures and 1 individual with infantile spasms. 1 individual described had a de novo missense variant with remainder having comp het/biallelic variants. Mild ID in 1 individual only.\r\n\r\nVariant type mostly missense variants with 1 nonsense, all appropriately rare in gnomAD v4 for recessive disorder.\r\n\r\nNo variant specific functional studies performed, no clear discussion in paper about postulated mechanism for disease. No discussion around difference in mechanism for de novo monoallelic variant. \r\n\r\nPrevious studies showed homozygous knockout mice display abnormal neuronal proliferation and growth retardation. \nSources: Literature",
"entity_name": "CSMD3",
"entity_type": "gene"
},
{
"created": "2025-09-01T16:27:21.194945+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMD2 as ready",
"entity_name": "MMD2",
"entity_type": "gene"
},
{
"created": "2025-09-01T16:27:21.182928+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MMD2",
"entity_type": "gene"
},
{
"created": "2025-09-01T16:27:15.901965+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MMD2: Changed rating: AMBER",
"entity_name": "MMD2",
"entity_type": "gene"
},
{
"created": "2025-09-01T16:27:07.887423+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MMD2 as Amber List (moderate evidence)",
"entity_name": "MMD2",
"entity_type": "gene"
},
{
"created": "2025-09-01T16:27:07.877220+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MMD2",
"entity_type": "gene"
},
{
"created": "2025-09-01T16:26:43.108170+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMD2 was added\ngene: MMD2 was added to Phagocyte Defects. Sources: Literature\nMode of inheritance for gene: MMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MMD2 were set to 40663042\nPhenotypes for gene: MMD2 were set to Periodontitis, MONDO:0005076, MMD2-related\nReview for gene: MMD2 was set to GREEN\nAdded comment: Two multigenerational families with aggressive periodontitis segregating missense variants, plus supportive functional data. Abnormalities in the proteins of Golgi apparatus, a crucial contributor to innate immune signaling pathways, were identified in patients' neutrophils. The knock-in and knockout mice exhibited alveolar bone loss by ligature-induced periodontitis, along with impaired fMLP-induced chemotaxis, as found in the patients with MMD2 variants. \nSources: Literature",
"entity_name": "MMD2",
"entity_type": "gene"
},
{
"created": "2025-09-01T16:25:37.309921+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMD2 as ready",
"entity_name": "MMD2",
"entity_type": "gene"
},
{
"created": "2025-09-01T16:25:37.299275+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MMD2",
"entity_type": "gene"
},
{
"created": "2025-09-01T16:24:55.945055+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MMD2 as Amber List (moderate evidence)",
"entity_name": "MMD2",
"entity_type": "gene"
},
{
"created": "2025-09-01T16:24:55.934083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MMD2",
"entity_type": "gene"
},
{
"created": "2025-09-01T16:24:34.146673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMD2 was added\ngene: MMD2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MMD2 were set to 40663042\nPhenotypes for gene: MMD2 were set to Periodontitis, MONDO:0005076, MMD2-related\nReview for gene: MMD2 was set to AMBER\nAdded comment: Two multigenerational families with aggressive periodontitis segregating missense variants, plus supportive functional data. Abnormalities in the proteins of Golgi apparatus, a crucial contributor to innate immune signaling pathways, were identified in patients' neutrophils. The knock-in and knockout mice exhibited alveolar bone loss by ligature-induced periodontitis, along with impaired fMLP-induced chemotaxis, as found in the patients with MMD2 variants. \nSources: Literature",
"entity_name": "MMD2",
"entity_type": "gene"
},
{
"created": "2025-09-01T15:36:45.753432+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.244",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: ARNTL was added\ngene: ARNTL was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ARNTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARNTL were set to PMID: 40720646\nPhenotypes for gene: ARNTL were set to Neurodevelopmental disorder, MONDO:0700092, BMAL1-related\nReview for gene: ARNTL was set to GREEN\nAdded comment: Note has new HGNC approved name - BMAL1\r\n\r\nBMAL1 encodes a transcription factor that plays a role in the mammalian molecular clock, binds to promoter of PER and CRY family genes to promote transcription. Other circardian genes have sleep phase disorder assoc but not neurodevelopmental phenotype.\r\n\r\n10 affected individuals described in PMID: 40455867 with variable developmental delay/ID from average IQ to severe ID, seizures in 50%, autism, some had sleep disturbance and marfanoid habitus.\r\nVariants were LOF & missense and very rare or absent in gnomAD v4.\r\n5 confirmed de novo, 2 confirmed inherited (one from apparently unaffected mother).\r\n\r\nFunctional studies using luciferase reporter assay of downstream target PER showed reduced luminescence for most variants with presumed LOF mechanism. One variant p.(Ile201Thr) led to increased luminescence with author's postulating GOF mechanism for this variant. Drosophilia studies for 2 of the variants demonstrated altered circadian rhythm. ?needs more studies to further define mechanism. \nSources: Literature",
"entity_name": "ARNTL",
"entity_type": "gene"
},
{
"created": "2025-09-01T15:35:41.248083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2923",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: ARNTL was added\ngene: ARNTL was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARNTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARNTL were set to PMID: 40720646\nPhenotypes for gene: ARNTL were set to Neurodevelopmental disorder, MONDO:0700092, BMAL1-related\nReview for gene: ARNTL was set to GREEN\nAdded comment: Note has new HGNC approved name - BMAL1\r\n\r\nBMAL1 encodes a transcription factor that plays a role in the mammalian molecular clock, binds to promoter of PER and CRY family genes to promote transcription. Other circardian genes have sleep phase disorder assoc but not neurodevelopmental phenotype.\r\n\r\n10 affected individuals described in PMID: 40455867 with variable developmental delay/ID from average IQ to severe ID, seizures in 50%, autism, some had sleep disturbance and marfanoid habitus. \r\nVariants were LOF & missense and very rare or absent in gnomAD v4. \r\n5 confirmed de novo, 2 confirmed inherited (one from apparently unaffected mother). \r\n\r\nFunctional studies using luciferase reporter assay of downstream target PER showed reduced luminescence for most variants with presumed LOF mechanism. One variant p.(Ile201Thr) led to increased luminescence with author's postulating GOF mechanism for this variant. Drosophilia studies for 2 of the variants demonstrated altered circadian rhythm. ?needs more studies to further define mechanism. \nSources: Literature",
"entity_name": "ARNTL",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:59:02.927698+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM136A as ready",
"entity_name": "FAM136A",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:59:02.917375+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam136a has been classified as Red List (Low Evidence).",
"entity_name": "FAM136A",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:58:55.379216+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM136A was added\ngene: FAM136A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FAM136A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FAM136A were set to 40714634\nPhenotypes for gene: FAM136A were set to Meniere's disease\nReview for gene: FAM136A was set to RED\nAdded comment: Single family reported with high impact variant, supportive functional data. \nSources: Literature",
"entity_name": "FAM136A",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:58:46.931426+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM136A as ready",
"entity_name": "FAM136A",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:58:46.920340+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam136a has been classified as Red List (Low Evidence).",
"entity_name": "FAM136A",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:57:35.022274+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM136A was added\ngene: FAM136A was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: FAM136A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FAM136A were set to 40714634\nPhenotypes for gene: FAM136A were set to Meniere's disease\nReview for gene: FAM136A was set to RED\nAdded comment: Single family reported with high impact variant, supportive functional data. \nSources: Literature",
"entity_name": "FAM136A",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:52:37.827709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NCOA7 as ready",
"entity_name": "NCOA7",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:52:37.816629+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncoa7 has been classified as Green List (High Evidence).",
"entity_name": "NCOA7",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:52:20.559917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NCOA7 as Green List (high evidence)",
"entity_name": "NCOA7",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:52:20.553087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncoa7 has been classified as Green List (High Evidence).",
"entity_name": "NCOA7",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:52:07.312317+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NCOA7 was added\ngene: NCOA7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NCOA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NCOA7 were set to 40745099\nPhenotypes for gene: NCOA7 were set to Inherited premature ovarian failure MONDO:0019852, NCOA7-related\nReview for gene: NCOA7 was set to GREEN\nAdded comment: 7 individuals with POI and heterozygous variants in this gene. Two of the variants led to NMD; 3 were missense. Functional data supports role in cell senescence. \nSources: Literature",
"entity_name": "NCOA7",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:51:54.021498+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NCOA7 as ready",
"entity_name": "NCOA7",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:51:54.012144+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncoa7 has been classified as Green List (High Evidence).",
"entity_name": "NCOA7",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:50:52.871581+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NCOA7 as Green List (high evidence)",
"entity_name": "NCOA7",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:50:52.856834+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncoa7 has been classified as Green List (High Evidence).",
"entity_name": "NCOA7",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:50:45.763714+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NCOA7 was added\ngene: NCOA7 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: NCOA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NCOA7 were set to 40745099\nPhenotypes for gene: NCOA7 were set to Inherited premature ovarian failure MONDO:0019852, NCOA7-related\nReview for gene: NCOA7 was set to GREEN\nAdded comment: 7 individuals with POI and heterozygous variants in this gene. Two of the variants led to NMD; 3 were missense. Functional data supports role in cell senescence. \nSources: Literature",
"entity_name": "NCOA7",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:46:05.400719+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POU5F1: Added comment: Additional individual reported in PMID 40744326 with rare high impact variant, maintain Red rating for now.; Changed publications: 21273125, 40744326",
"entity_name": "POU5F1",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:37:26.967585+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH6 were changed from Spermatogenic failure, MONDO:0004983, DNAH6-related; situs inversus, MONDO:0010029 to Spermatogenic failure, MONDO:0004983, DNAH6-related",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:37:13.631292+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAH6 were set to PMID: 26918822",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:36:25.374842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAH6 as Green List (high evidence)",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:36:25.363559+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah6 has been classified as Green List (High Evidence).",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:36:11.543070+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:36:04.778115+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNAH6: Added comment: More than 5 unrelated individuals reported with spermatogenic failure and bi-allelic variants in this gene.; Changed rating: GREEN; Changed publications: 37594300, 39192248, 37424858, 31676830, 29356036, 40592014",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:35:04.942137+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH6 as ready",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:35:04.931817+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah6 has been classified as Green List (High Evidence).",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:34:26.429290+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAH6 as Green List (high evidence)",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:34:26.422348+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah6 has been classified as Green List (High Evidence).",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:34:19.458489+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAH6 was added\ngene: DNAH6 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: DNAH6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH6 were set to 37594300; 39192248; 37424858; 31676830; 29356036; 40592014\nPhenotypes for gene: DNAH6 were set to Spermatogenic failure, MONDO:0004983, DNAH6-related\nReview for gene: DNAH6 was set to GREEN\nAdded comment: More than 5 unrelated individuals reported with spermatogenic failure and bi-allelic variants in this gene. \nSources: Literature",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:31:10.478255+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH6 were changed from Heterotaxy, Azoospermia to Spermatogenic failure, MONDO:0004983, DNAH6-related; situs inversus, MONDO:0010029",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:30:27.311836+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAH6: Rating: AMBER; Mode of pathogenicity: None; Publications: 40592014; Phenotypes: Spermatogenic failure, MONDO:0004983, DNAH6-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:27:41.072137+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH2 as ready",
"entity_name": "DNAH2",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:27:41.065174+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah2 has been classified as Green List (High Evidence).",
"entity_name": "DNAH2",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:27:39.278211+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAH2 were set to 30811583; 32732226; 40592014",
"entity_name": "DNAH2",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:27:28.224588+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAH2 as Green List (high evidence)",
"entity_name": "DNAH2",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:27:28.214799+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah2 has been classified as Green List (High Evidence).",
"entity_name": "DNAH2",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:27:20.866809+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAH2 was added\ngene: DNAH2 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: DNAH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH2 were set to 30811583; 32732226; 40592014\nPhenotypes for gene: DNAH2 were set to Spermatogenic failure 45, MIM# 619094\nReview for gene: DNAH2 was set to GREEN\nAdded comment: At least 3 unrelated families reported with biallelic variants and spermatogenic failure. \nSources: Literature",
"entity_name": "DNAH2",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:24:10.662170+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PAX4: Changed phenotypes: Maturity-onset diabetes of the young, type IX MIM#612225, Transient neonatal diabetes mellitus, MONDO:0020525, PAX-4 related",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:23:57.949997+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX4 were changed from Maturity-onset diabetes of the young, type IX MIM#612225; Diabetes mellitus, type 2, MIM# 125853 to Maturity-onset diabetes of the young, type IX MIM#612225; Transient neonatal diabetes mellitus, MONDO:0020525, PAX-4 related",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:23:20.730428+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX4 were set to 17426099; 14561778; 25951767; 21263211",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:23:05.780272+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:22:44.409541+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PAX4: Added comment: Homozygous PAX4 loss-of-function variants in 2 individuals with transient NDM: a p.(Arg126∗) stop-gain variant and a c.-352_104del deletion affecting the first 4 PAX4 exons. This is a separate association to the refuted association with MODY but maintaining the RED rating overall.; Changed rating: RED; Changed publications: 17426099, 14561778, 25951767, 21263211, 40614820; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:16:57.305660+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX4 were changed from Maturity-onset diabetes of the young, type IX MIM#612225 to Maturity-onset diabetes of the young, type IX MIM#612225; Transient neonatal diabetes mellitus, MONDO:0020525, PAX-4 related",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:16:44.229662+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX4 were set to 17426099; 14561778; 25951767; 21263211",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:11:40.133711+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:11:26.379251+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PAX4: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:11:13.851633+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAX4: Rating: RED; Mode of pathogenicity: None; Publications: 40614820; Phenotypes: Transient neonatal diabetes mellitus, MONDO:0020525, PAX-4 related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:06:58.464864+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAN2A2 were set to 36357165",
"entity_name": "MAN2A2",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:06:19.627953+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAN2A2 as Amber List (moderate evidence)",
"entity_name": "MAN2A2",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:06:19.613480+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAN2A2",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:05:52.730049+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAN2A2: Changed rating: AMBER",
"entity_name": "MAN2A2",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:05:35.310438+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAN2A2: Added comment: PMID 40628855: second unrelated individual reported, presenting with ID/autism and with bi-allelic variants, one missense and the other LoF. Abnormal glycosylation patterns observed consistent with CDG.; Changed publications: 36357165, 40628855",
"entity_name": "MAN2A2",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:03:52.457975+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAN2A2 were set to 36357165",
"entity_name": "MAN2A2",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:03:33.982984+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAN2A2 as Amber List (moderate evidence)",
"entity_name": "MAN2A2",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:03:33.972088+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAN2A2",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:03:28.276457+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAN2A2 were set to 36357165",
"entity_name": "MAN2A2",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:03:21.828281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAN2A2: Added comment: PMID 40628855: second unrelated individual reported, presenting with ID/autism and with bi-allelic variants, one missense and the other LoF. Abnormal glycosylation patterns observed consistent with CDG.; Changed rating: AMBER; Changed publications: 36357165, 40628855",
"entity_name": "MAN2A2",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:01:05.550138+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAN2A2 as Amber List (moderate evidence)",
"entity_name": "MAN2A2",
"entity_type": "gene"
},
{
"created": "2025-09-01T14:01:05.539526+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAN2A2",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:59:50.430341+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAN2A2: Changed rating: AMBER",
"entity_name": "MAN2A2",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:59:43.981556+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAN2A2: Added comment: PMID 40628855: second unrelated individual reported, presenting with ID/autism and with bi-allelic variants, one missense and the other LoF. Abnormal glycosylation patterns observed consistent with CDG.; Changed publications: 36357165, 40628855",
"entity_name": "MAN2A2",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:56:08.487293+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC186 as ready",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:56:08.476146+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc186 has been classified as Green List (High Evidence).",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:56:04.319512+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC186 as Green List (high evidence)",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:56:04.311921+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc186 has been classified as Green List (High Evidence).",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:54:45.903610+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC186 was added\ngene: CCDC186 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CCDC186 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC186 were set to 33259146; 37569695; 40633195\nPhenotypes for gene: CCDC186 were set to Neurodevelopmental disorder, MONDO:0700092, CCDC186-related\nReview for gene: CCDC186 was set to GREEN\nAdded comment: At least 3 unrelated families reported with bi-allelic LoF variants and a neurodevelopmental phenotype comprising ID and seizures, plus other more variable features. \nSources: Literature",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:53:08.989894+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC186 were changed from Epileptic encephalopathy to Neurodevelopmental disorder, MONDO:0700092, CCDC186-related",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:52:45.752115+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC186 were set to 33259146",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:52:17.708295+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC186 as Green List (high evidence)",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:52:17.697527+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc186 has been classified as Green List (High Evidence).",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:51:45.514354+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CCDC186: Added comment: PMID 40633195: Individual with another bi-allelic LoF variant reported, NM_018017.4:c.535C>T (p.Arg179Ter), presenting with seizures, ID and microcephaly.\r\n\r\nPMID: two Gypsy families reported, with same homozygous variant, c.2215C>T, p.Arg739Ter. EE was part of the phenotype, although the phenotype was broader.; Changed rating: GREEN; Changed publications: 33259146, 37569695, 40633195; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CCDC186-related",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:50:45.462089+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC186 were changed from Epileptic encephalopathy to Neurodevelopmental disorder, MONDO:0700092, CCDC186-related",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:50:28.578169+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC186 were set to 33259146",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:50:11.941565+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC186 as Green List (high evidence)",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:50:11.919655+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc186 has been classified as Green List (High Evidence).",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:48:28.052112+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CCDC186: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CCDC186-related",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:48:06.264853+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CCDC186: Changed rating: GREEN",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:47:58.959390+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CCDC186: Added comment: PMID 40633195: Individual with another bi-allelic LoF variant reported, NM_018017.4:c.535C>T (p.Arg179Ter), presenting with seizures, ID and microcephaly.; Changed publications: 33259146, 37569695, 40633195",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:46:42.001525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID: two Gypsy families reported, with same homozygous variant, c.2215C>T, p.Arg739Ter; to: PMID: two Gypsy families reported, with same homozygous variant, c.2215C>T, p.Arg739Ter. EE was part of the phenotype, although the phenotype was broader.",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:45:57.394247+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: One individual reported with bi-allelic truncating variant and EE. \nSources: Literature; to: One individual reported with bi-allelic truncating variant p.(Ser256Ter) and EE. \r\nSources: Literature",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T13:45:32.919948+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CCDC186: Added comment: PMID: two Gypsy families reported, with same homozygous variant, c.2215C>T, p.Arg739Ter; Changed publications: 33259146, 37569695",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:59:50.014315+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VWA8 were set to PMID: 37012052",
"entity_name": "VWA8",
"entity_type": "gene"
}
]
}