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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=268",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=266",
"results": [
{
"created": "2025-04-13T11:36:34.393810+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2462",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Same mechanism of disease for monoallelic vs biallelic. Biallelic phenotype is more severe",
"entity_name": "ENAM",
"entity_type": "gene"
},
{
"created": "2025-04-13T11:36:34.367402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2462",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ENAM was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ENAM",
"entity_type": "gene"
},
{
"created": "2025-04-13T11:29:07.908747+10:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EMILIN1 as ready",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2025-04-13T11:29:07.902319+10:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: emilin1 has been classified as Green List (High Evidence).",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2025-04-13T11:29:01.681879+10:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EMILIN1 were changed from arterial tortuosity-bone fragility syndrome to arterial tortuosity-bone fragility syndrome MONDO:0971179",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2025-04-13T11:28:40.250319+10:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EMILIN1 as Green List (high evidence)",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2025-04-13T11:28:40.237137+10:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: emilin1 has been classified as Green List (High Evidence).",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2025-04-13T11:26:16.548745+10:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EMILIN1 was added\ngene: EMILIN1 was added to Osteogenesis Imperfecta and Osteoporosis. Sources: Literature\nMode of inheritance for gene: EMILIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EMILIN1 were set to 36351433\nPhenotypes for gene: EMILIN1 were set to arterial tortuosity-bone fragility syndrome\nReview for gene: EMILIN1 was set to GREEN\ngene: EMILIN1 was marked as current diagnostic\nAdded comment: Prenatal and neonatal fractures are a feature of the condition. \nSources: Literature",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2025-04-12T20:35:19.985919+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ELOVL4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2025-04-12T20:34:47.730383+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11138005, 15028284, 11726641, 17208947; Phenotypes: Stargardt disease MONDO:0019353; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2025-04-12T20:31:32.315752+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.222",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ELOVL4 as ready",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2025-04-12T20:31:32.309139+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.222",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: elovl4 has been classified as Red List (Low Evidence).",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2025-04-12T20:30:50.289093+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.222",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ELOVL4 as Red List (low evidence)",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2025-04-12T20:30:50.274906+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.222",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: elovl4 has been classified as Red List (Low Evidence).",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2025-04-12T20:30:39.866413+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Well-established gene-disease associations. Monoallelic loss-of-function variants are associated with macular dystrophy/Stargardt disease. Biallelic loss-of-function variants cause congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome. Monoallelic missense variants cause spinocerebellar ataxia.; to: The macular dystrophy/Stargardt disease phenotype is nonsyndromic and the biallelic congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome doesn't include any retinal findings. Parents who were heterozygous for the variants did not have macular dystrophy.",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2025-04-12T20:24:58.683923+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: ELOVL4: Changed rating: RED; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2025-04-12T19:55:26.574615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2461",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Well-established gene-disease associations. Monoallelic loss-of-function variants are associated with macular dystrophy/Stargardt disease. Biallelic loss-of-function variants cause congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome. Monoallelic missense variants cause spinocerebellar ataxia.; to: Well-established gene-disease associations. Monoallelic truncating variants in the last exon with an expected dominant effect are associated with macular dystrophy/Stargardt disease. Biallelic loss-of-function variants cause congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome. Monoallelic missense variants cause spinocerebellar ataxia.",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2025-04-12T19:44:32.310288+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2461",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ELOVL1 were set to ",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2025-04-12T19:41:35.739626+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2460",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ELOVL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2025-04-12T19:41:05.596628+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2459",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ELOVL1: Rating: RED; Mode of pathogenicity: None; Publications: 35379526; Phenotypes: ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features MONDO:0032798; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2025-04-12T19:22:12.795646+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2459",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2025-04-12T17:45:02.329452+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2459",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EIF2AK4 were set to ",
"entity_name": "EIF2AK4",
"entity_type": "gene"
},
{
"created": "2025-04-12T17:42:59.089800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2458",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2AK2 were changed from Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness; Dystonia to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness; Dystonia; complex neurodevelopmental disorder MONDO:0100038",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2025-04-12T17:41:33.412513+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2457",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2A were changed from Intellectual disability, epilepsy to Intellectual disability, epilepsy; MONDO:0700092",
"entity_name": "EIF2A",
"entity_type": "gene"
},
{
"created": "2025-04-12T17:40:34.103589+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2456",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2AK1 were changed from Intellectual disability; white matter abnormalities to Intellectual disability; white matter abnormalities; MONDO:0100038",
"entity_name": "EIF2AK1",
"entity_type": "gene"
},
{
"created": "2025-04-12T17:19:42.677811+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2455",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EGR2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2025-04-12T17:07:06.995170+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2454",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EGR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2025-04-12T16:34:06.022601+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.321",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EFNA4 were set to 29215649; 29168297; 16540516",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2025-04-12T16:33:33.281605+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.320",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EFNA4 as Red List (low evidence)",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2025-04-12T16:33:33.275230+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.320",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: efna4 has been classified as Red List (Low Evidence).",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2025-04-12T16:33:16.865524+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.319",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EFNA4: Rating: RED; Mode of pathogenicity: None; Publications: 16540516, 19201948, 19772933, 23983218, 29168297, 29215649, 33065355, 34586326, 36140816; Phenotypes: craniosynostosis MONDO:0015469; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2025-04-12T16:31:22.505748+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EFNA4 as Red List (low evidence)",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2025-04-12T16:31:22.496322+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: efna4 has been classified as Red List (Low Evidence).",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2025-04-12T16:30:58.822583+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EFNA4: Rating: RED; Mode of pathogenicity: None; Publications: 16540516, 19201948, 19772933, 23983218, 29168297, 29215649, 33065355, 34586326, 36140816; Phenotypes: craniosynostosis MONDO:0015469; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2025-04-12T16:27:03.364198+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2453",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EFNA4 as Red List (low evidence)",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2025-04-12T16:27:03.357586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2453",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: efna4 has been classified as Red List (Low Evidence).",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2025-04-12T16:26:45.058488+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2452",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Supporting animal models, but no compelling evidence in human cases. There’s no supporting segregation evidence and most of the variants reports to date are more common than expected for a dominant disease.\r\n\r\nPMID: 34586326 - 3 missense variants identified in a cohort of 101 children with non-syndromic craniosynostosis (EFNA4, c.178C>T: p.His60Tyr - 361 hets & 2 homs in gnomAD v2.1, c.283A>G: p.Lys95Glu, c.349C>A: Pro117Thr - 337 hets in gnomAD v2.1). All 3 variants were present in at least one non-affected family member\r\n\r\nPMID: 23983218, 33065355 - Efna4 KO mouse line demonstrates skeletal variance. Homozygous Epha4 null mice had substantially less trabecular bone in femur and vertebra compared to wild-type controls\r\n\r\nPMID: 29215649 - 1 missense variant (c.211G>A, p.(Glu71Lys) - 7 hets in gnomAD v2.1) identified in a unicoronal craniosynostosis case in a cohort of 309 craniosynostosis cases\r\n\r\nPMID: 29168297 - 1 missense variant (c.550C>T; p.(Leu184Phe) - 1 het in gnomAD v2.1) in a metopic craniosynostosis case from a cohort of 391 single suture craniosynostosis cases. The variant was inherited from an unaffected parent. \r\n\r\nPMID: 19772933 - a de novo 1.4 Mb microdeletion of chromosome 1q21.3, including EFNA1, EFNA3 and EFNA4, was identified in a child with moderate mental retardation, microcephaly, arching eyebrows, low set ears, long eyelashes, persistent fetal pads and clinodactyly.\r\n\r\nPMID: 19201948 - EphA4 -/- mutant mice exhibit defects in the coronal suture and neural crest-mesoderm boundary that phenocopy those of Twist1+/- mice. The EphA4 +/- mice were similar to the wild-type controls.\r\n\r\nPMID: 16540516 - 3 variants (178C>T p.His60Tyr - 361 hets & 2 homs in gnomAD v2.1; c.349C>A p.Pro117Thr - 337 hets in gnomAD v2.1; frameshift 471_472delCCinsA) in cohort of 81 non-syndromic coronal synostosis cases. 2 of the variants were inherited from unaffected parents and Pro117Thr was de novo (confirmed). In vitro functional assays demonstrated partial or complete loss of function for the missense variants. Fibroblasts from the patient with the frameshift expressed in an alternatively spliced minor isoform of EFNA4.; to: Supporting animal models, but no compelling evidence in human cases has been reported since 2006. There’s no supporting segregation evidence and most of the variants reports to date are more common than expected for a dominant disease.\r\n\r\nPMID: 34586326 - 3 missense variants identified in a cohort of 101 children with non-syndromic craniosynostosis (EFNA4, c.178C>T: p.His60Tyr - 361 hets & 2 homs in gnomAD v2.1, c.283A>G: p.Lys95Glu, c.349C>A: Pro117Thr - 337 hets in gnomAD v2.1). All 3 variants were present in at least one non-affected family member\r\n\r\nPMID: 23983218, 33065355 - Efna4 KO mouse line demonstrates skeletal variance. Homozygous Epha4 null mice had substantially less trabecular bone in femur and vertebra compared to wild-type controls\r\n\r\nPMID: 29215649 - 1 missense variant (c.211G>A, p.(Glu71Lys) - 7 hets in gnomAD v2.1) identified in a unicoronal craniosynostosis case in a cohort of 309 craniosynostosis cases\r\n\r\nPMID: 29168297 - 1 missense variant (c.550C>T; p.(Leu184Phe) - 1 het in gnomAD v2.1) in a metopic craniosynostosis case from a cohort of 391 single suture craniosynostosis cases. The variant was inherited from an unaffected parent. \r\n\r\nPMID: 19772933 - a de novo 1.4 Mb microdeletion of chromosome 1q21.3, including EFNA1, EFNA3 and EFNA4, was identified in a child with moderate mental retardation, microcephaly, arching eyebrows, low set ears, long eyelashes, persistent fetal pads and clinodactyly.\r\n\r\nPMID: 19201948 - EphA4 -/- mutant mice exhibit defects in the coronal suture and neural crest-mesoderm boundary that phenocopy those of Twist1+/- mice. The EphA4 +/- mice were similar to the wild-type controls.\r\n\r\nPMID: 16540516 - 3 variants (178C>T p.His60Tyr - 361 hets & 2 homs in gnomAD v2.1; c.349C>A p.Pro117Thr - 337 hets in gnomAD v2.1; frameshift 471_472delCCinsA) in cohort of 81 non-syndromic coronal synostosis cases. 2 of the variants were inherited from unaffected parents and Pro117Thr was de novo (confirmed). In vitro functional assays demonstrated partial or complete loss of function for the missense variants. Fibroblasts from the patient with the frameshift expressed in an alternatively spliced minor isoform of EFNA4.",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2025-04-12T16:25:18.508524+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2452",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: EFNA4: Changed rating: RED; Changed publications: 16540516, 19201948, 19772933, 23983218, 29168297, 29215649, 33065355, 34586326, 36140816",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2025-04-12T16:08:50.279677+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EFEMP1 as ready",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2025-04-12T16:08:50.273084+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: efemp1 has been classified as Green List (High Evidence).",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2025-04-12T16:08:02.899052+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Singe missense variant (p.Arg345Trp) associated with disease",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2025-04-12T16:08:02.879677+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EFEMP1 were changed from Inherited macular dystrophy (Doyne/dominant drusen) to Doyne honeycomb retinal dystrophy MONDO:0007471",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2025-04-12T16:06:41.073820+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EFEMP1 were set to ",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2025-04-12T16:01:22.192624+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2452",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EFEMP1 were set to 32006683; 31792352; 33807164",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2025-04-12T15:44:19.017265+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EEF1D as Green List (high evidence)",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2025-04-12T15:44:19.011174+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eef1d has been classified as Green List (High Evidence).",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2025-04-12T15:43:54.819961+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.101",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EEF1D were set to 30787422; 28097321",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2025-04-12T15:43:29.587631+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2451",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EEF1D were set to 30787422; 28097321",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2025-04-12T15:43:13.021193+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EEF1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 38083972, 36576126, 30787422, 28097321; Phenotypes: Neurodevelopmental disorder MONDO:0700092, EEF1D-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2025-04-12T15:42:55.365878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2450",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EEF1D as Green List (high evidence)",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2025-04-12T15:42:55.357302+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2450",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eef1d has been classified as Green List (High Evidence).",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2025-04-12T15:42:13.738080+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2449",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EEF1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 38083972, 36576126, 30787422, 28097321; Phenotypes: Neurodevelopmental disorder MONDO:0700092, EEF1D-related; Mode of inheritance: None",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2025-04-12T15:17:19.707776+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: AD association is limited/disputed",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2025-04-12T15:17:19.681122+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDN3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2025-04-12T15:16:13.740004+10:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: AD association is limited/disputed",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2025-04-12T15:16:13.697018+10:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDN3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2025-04-12T15:15:20.018264+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: AD association is limited/disputed",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2025-04-12T15:15:19.990071+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDN3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2025-04-12T14:18:18.931410+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2449",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EDARADD were set to ",
"entity_name": "EDARADD",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:43:50.937595+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADM as ready",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:43:50.931519+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadm has been classified as Green List (High Evidence).",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:43:34.558019+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACADM as Green List (high evidence)",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:43:34.550740+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadm has been classified as Green List (High Evidence).",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:43:15.856967+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACADM was added\ngene: ACADM was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450\nReview for gene: ACADM was set to GREEN\nAdded comment: An individual with MCAD deficiency is at risk of metabolic decompensation when their energy needs are not met with exogenous sources and have to rely on stored fat, such as during prolonged fasting or periods of higher energy demand. Clinical symptoms in a previously apparently healthy individual with MCAD deficiency include hypoketotic hypoglycemia and nausea or vomiting that may progress to lethargy, seizures, coma, and even sudden death. Symptoms may be triggered by a common illness, fasting, excessive drug or alcohol intake, diarrhea, or vomiting and can progress to seizures or coma within 1-2 hours of onset; on occasion, seizures or coma may be the presenting sign. Hepatomegaly and liver disease are often present during an acute episode. Uncontrolled metabolic decompensation can increase the risk of neurological findings secondary to brain injury (e.g. loss of developmental milestones) and chronic muscular weakness.\r\n\r\nLate-onset presentations have been described in adults after prolonged fasting, including after fasting for surgery, or with alcohol intoxication, often with fatal results. \r\n\r\nThe mainstay for prevention of primary manifestations in asymptomatic patients with MCAD deficiency is avoidance of prolonged fasting. \r\n\r\nThere is a risk of metabolic decompensation during surgery, particularly if catabolism is precipitated by fasting and surgery. It is important to minimize catabolism by providing adequate amounts of carbohydrate (orally or intravenously) prior to and during surgery.\r\n\r\nLow-dose L-carnitine supplementation is recommended when carnitine levels are below the normal range. Individuals with MCAD deficiency may develop a secondary carnitine deficiency as excess medium chain fatty acids bind to free carnitine and are excreted.\r\n\r\nIndividuals should be provided with an emergency protocol/letter to carry at all times. They should be strongly advised to seek medical attention if the individual with MCAD deficiency has an acute illness accompanied by poor intake, vomiting, and/or lethargy. The letter should contain patient identifiers, description of the disorder, emergency treatment protocol, and contact information for the metabolic specialist.\r\n\r\nPregnant women should receive supplemental carnitine to account for reduced plasma free carnitine levels during pregnancy, though free carnitine may still not reach pre-pregnancy levels. Intravenous glucose should be started as soon as labour begins and continued until the patient has adequate oral intake and can maintain normoglycaemia. \nSources: Expert list",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:37:21.929428+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDH1 as ready",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:37:21.922776+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh1 has been classified as Green List (High Evidence).",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:37:09.117665+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDH1 as Green List (high evidence)",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:37:09.108432+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh1 has been classified as Green List (High Evidence).",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:36:54.897084+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDH1 was added\ngene: CDH1 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDH1 were set to Diffuse gastric cancer, MONDO:0957519; CDH1-related diffuse gastric and lobular breast cancer syndrome, MONDO:0100488\nReview for gene: CDH1 was set to GREEN\nAdded comment: Individuals with pathogenic CDH1 mutations are currently advised to undergo risk-reducing total gastrectomy due to their high lifetime risk of developing gastric cancer and the limited efficacy of surveillance modalities. Most guidelines recommend gastrectomy after age 18 and before age 30-40.\r\n\r\nRisk-reducing mastectomy could be considered, but is not uniformly recommended, as it may be a reasonable option for some women who carry CDH1 mutations. \nSources: Expert list",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:32:43.895880+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBA as ready",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:32:43.886343+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gba has been classified as Green List (High Evidence).",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:32:36.348036+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GBA as Green List (high evidence)",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:32:36.341549+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gba has been classified as Green List (High Evidence).",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:32:20.630164+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GBA was added\ngene: GBA was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBA were set to Gaucher disease, type I MIM#230900\nReview for gene: GBA was set to GREEN\nAdded comment: Gaucher disease type 1 can present at any age.\r\n\r\nGD is a lysosomal storage disorder caused by a deficiency of glucocerebrosidase which results in the multisystemic accumulation of glucosylceramide-laden macrophages (Gaucher cells) in various tissues: spleen, liver, bone marrow, bone mineral, and less often the lungs, skin, eyes, kidneys, lymphatic system, and heart. The spectrum of clinical manifestations and symptoms includes hepatosplenomegaly (HSM), abdominal discomfort and distension, skeletal disease (e.g., bone pain, osteopenia, bone infarct, osteonecrosis, pathological fractures), cytopenia (e.g., thrombocytopenia, anemia), fatigue, excessive bleeding, increased risk of infections, cardiovascular complications, and pulmonary disease.\r\n\r\nEnzyme replacement therapy (ERT) with recombinant glucocerebrosidase (imiglucerase, velaglucerase, or taliglucerase) is the current standard of care for symptomatic individuals with GD type 1. \nSources: Expert list",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:21:06.420039+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMBS as ready",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:21:06.412846+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmbs has been classified as Green List (High Evidence).",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:20:58.389753+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HMBS as Green List (high evidence)",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:20:58.379853+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmbs has been classified as Green List (High Evidence).",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:20:45.854637+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HMBS was added\ngene: HMBS was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HMBS were set to Porphyria, acute intermittent, MIM#176000\nReview for gene: HMBS was set to GREEN\nAdded comment: AIP is characterized by intermittent and sometimes life-threatening acute neurovisceral attacks of severe pain, usually abdominal and generalized, without peritoneal signs. While all individuals with a pathogenic variant in HMBS are predisposed to acute attacks, most never have symptoms, and are said to have latent (or presymptomatic AIP). Attacks may be accompanied by nausea, vomiting, distention, constipation, diarrhea and ileus. Tachycardia, hypertension, and hyponatremia can occur, with fever, sweating, restlessness, and tremor occurring less frequently. Urinary retention, incontinence, and dysuria may be present. Neurologic findings may also occur including mental changes (e.g., insomnia, paranoia), convulsions, hallucinations, peripheral neuropathy (that may progress to respiratory paralysis), pain in extremities, paresis, weakness, and altered consciousness (from somnolence to coma). Seizures may occur in acute attacks, especially in individuals with hyponatremia. Attacks may be provoked by certain drugs, crash dieting, alcoholic beverages, smoking, endocrine factors, calorie restriction, stress, and infections or surgery which can increase the demand for hepatic heme. Attacks are usually due to the additive effects of several triggers, including some that are unknown. Individuals are usually well between attacks.\r\n\r\nAvoidance of precipitating factors and treatment of acute crises are the mainstays of clinical management. \nSources: Expert list",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:14:20.387262+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLCN as Green List (high evidence)",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:14:20.380599+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flcn has been classified as Green List (High Evidence).",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:14:04.835627+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLCN was added\ngene: FLCN was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome (MIM#135150)\nReview for gene: FLCN was set to GREEN\nAdded comment: BHDS is a rare condition characterized by renal tumors of varying histologic subtypes, cutaneous manifestations (cutaneous collagenomas and fibrofolliculomas, oral papules, and epidermal cysts), and pulmonary cysts (most often located in the basal lung regions), which can manifest as spontaneous pneumothoraces (with a clinical presentation ranging from asymptomatic to dyspnea and chest pain). Cutaneous perifollicular fibromas, acrochordons, and angiofibromas have also been associated with BHDS, but only fibrofolliculomas are specific for BHDS. Other findings reported in a small number of individuals includes thyroid nodules and cysts, thyroid cancer, colon polyps, colorectal cancer, parotid tumors, cutaneous-type oral papules, cutaneous melanomas, and various other tumor types.\r\n\r\nInitial screening for major clinical manifestations in individuals with BHDS includes screening for renal, lung and skin manifestations (including lung and pelvic CT). Referral to a cancer genetics professional should be considered. \nSources: Expert list",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:10:29.308520+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMP2 as ready",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:10:29.295903+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamp2 has been classified as Green List (High Evidence).",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:09:55.683714+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMP2 as Green List (high evidence)",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:09:55.677215+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamp2 has been classified as Green List (High Evidence).",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:09:43.040540+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMP2 was added\ngene: LAMP2 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: LAMP2 were set to Danon disease, MIM#300257\nReview for gene: LAMP2 was set to GREEN\nAdded comment: Presents with HCM, skeletal myopathy, and ID (though typically mild).\r\n\r\nEchocardiography is recommended at least every 1-2 years (more frequent as cardiac structural changes and symptoms progress). ECG and BNP/troponin/creatine kinase levels at least annually. Cardiac MRI imaging might be helpful in identifying mild phenotypes and should be used upon clinical suspicion or when adequate echocardiographic images are not attainable. Ambulatory 24-hour Holter monitoring (at least yearly, or every 6 months if the left atrium is dilated) or consideration of an implantable loop recorder is recommended based on the high incidence of atrial fibrillation and advanced atrioventricular block. Cardiac evaluations every three to six months, including consideration of transplant evaluation, may be appropriate in patients with evidence of significant cardiac involvement. Cardiac MRI imaging should be repeated every 2-3 years to monitor progression of fibrosis. \nSources: Expert list",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:05:25.983001+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKN1B as ready",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:05:25.976276+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkn1b has been classified as Green List (High Evidence).",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:05:15.678720+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDKN1B as Green List (high evidence)",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:05:15.672310+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkn1b has been classified as Green List (High Evidence).",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2025-04-12T05:05:03.489578+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDKN1B was added\ngene: CDKN1B was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDKN1B were set to Multiple endocrine neoplasia type 4, MEN4, OMIM #610755\nReview for gene: CDKN1B was set to GREEN\nAdded comment: MEN4 is a very rare hereditary cancer syndrome characterized by parathyroid adenoma/hyperplasia and pituitary adenomas (Cushing disease, prolactinoma, somatotroph, corticotroph, and nonfunctioning adenomas). Primary hyperparathyroidism (pHPT) as a uniglandular disease is the leading pathology. Less frequently, additional endocrine/neuroendocrine neoplasias have been reported, including gastroenteropancreatic neuroendocrine tumors (NETs) and Zollinger-Ellison syndrome, NETs of the cervix and lungs, papillary thyroid carcinoma, thymic tumors, and adrenal masses. Other reported rare manifestations include meningiomas, and cancers of the uterus, testes, breast, colon, and kidneys.\r\n\r\nPresymptomatic surveillance recommendations for MEN4 have been suggested and are as follows:\r\n \r\n•Annual blood tests recommended for pHPT (calcium) and biochemical surveillance for secretory pituitary somatotroph adenomas (annual IGF-1), beginning in adolescence.\r\n \r\n•Endocrine surveillance is primarily clinical and should concentrate on evidence of growth hormone excess (gigantism/acromegaly) and glucocorticoid excess (Cushing syndrome), with concern for either prompting endocrine consultation. \nSources: Expert list",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2025-04-12T04:27:22.256305+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNF4A as ready",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2025-04-12T04:27:22.247826+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf4a has been classified as Green List (High Evidence).",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2025-04-12T04:27:11.970653+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HNF4A as Green List (high evidence)",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2025-04-12T04:27:11.964721+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf4a has been classified as Green List (High Evidence).",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2025-04-12T04:27:02.251113+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNF4A was added\ngene: HNF4A was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNF4A were set to MODY, type I, OMIM # 125850\nReview for gene: HNF4A was set to GREEN\nAdded comment: Annual screening for diabetes recommended in adults. Individuals with pathogenic variants in HNF4A and who develop clinical symptoms can initially be treated with diet. With progressive deterioration in glycaemic control, low-dose sulfonylureas are recommended as the first-line treatment. \nSources: Expert list",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2025-04-12T04:22:01.631531+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASS1 as ready",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2025-04-12T04:22:01.624517+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ass1 has been classified as Green List (High Evidence).",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2025-04-12T04:21:57.843949+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASS1 were changed from Citrullinemia MIM#215700 to Citrullinaemia MIM#215700",
"entity_name": "ASS1",
"entity_type": "gene"
}
]
}