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{
"count": 220468,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=78",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=76",
"results": [
{
"created": "2025-12-23T15:22:51.957213+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCN2 were set to 22131395; 30986657; 29064616; 20437590; 12514127; 17931874",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2025-12-23T15:22:12.472371+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HCN2: Added comment: PMID 40468825 reports 21 individuals with HCN2 variants from 15 unrelated families. The phenotypic spectrum included developmental delay/intellectual disability (DD/ID, 17/21), epilepsy (10/21), language disorders (16/21), movement disorders (12/21), and axial hypotonia (10/21). Thirteen pathogenic variants (12 new and 1 already described) were identified: 11 missense (8 monoallelic and 3 biallelic), 1 recurrent inframe deletion (monoallelic), and 1 frameshift (biallelic). Functional analysis of p.(Arg324His) variant showed a strong increase of HCN2 conductance, whereas p.(Ala363Val) and p.(Met374Leu) exhibited dominant negative effects. The p.(Leu377His), p.(Pro493Leu), and p.(Gly587Asp) variants rendered HCN2 electrophysiologically silent and impaired membrane trafficking. Structural 3D-analysis revealed that, except for p.(Arg324His), all variants altered HCN2 stability.; Changed rating: GREEN; Changed publications: 22131395, 30986657, 29064616, 20437590, 12514127, 17931874, 40468825",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:29:25.406646+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHI1 as ready",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:29:25.395858+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahi1 has been classified as Green List (High Evidence).",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:29:22.769301+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AHI1 were changed from Joubert syndrome 17 to Joubert syndrome 3, MIM# 608629",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:29:14.103156+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AHI1 were set to ",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:28:57.085328+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, retinal dystrophy is a feature.",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:28:18.346856+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AFG3L2 as ready",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:28:18.338376+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: afg3l2 has been classified as Red List (Low Evidence).",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:28:16.432745+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AFG3L2 were changed from to Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246); Optic atrophy 12, MIM# 618977",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:28:07.177598+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AFG3L2 were set to ",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:27:58.743312+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AFG3L2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:27:50.815057+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AFG3L2 as Red List (low evidence)",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:27:50.807863+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: afg3l2 has been classified as Red List (Low Evidence).",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:27:42.089160+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: OA has only been associated with a specific variant in this gene, R468C. The variant is de novo in some of the families, suggesting a hotspot rather than founder effect.; to: OA has only been associated with a specific variant in this gene, R468C. The variant is de novo in some of the families, suggesting a hotspot rather than founder effect.\r\n\r\nOptic atrophy rather than retinopathy, not within panel scope.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:27:18.001617+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AFG3L2: Changed rating: RED",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:24:56.982165+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACO2 as ready",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:24:56.972494+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aco2 has been classified as Green List (High Evidence).",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:24:49.318121+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACO2 were changed from Infantile cerebellar-retinal degeneration, 614559 to Infantile cerebellar-retinal degeneration, MIM#614559",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:24:37.612645+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACO2 were set to ",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:22:57.103850+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABHD12 as ready",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:22:57.096349+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abhd12 has been classified as Green List (High Evidence).",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:22:54.554512+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD12 were changed from Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:22:41.884042+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABHD12 were set to ",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:22:30.064689+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 5 unrelated families reported, progressive condition.; to: More than 5 unrelated families reported, progressive condition. RP is part of a more complex phenotype.",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:19:24.829037+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ8A as ready",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:19:24.818662+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq8a has been classified as Green List (High Evidence).",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:19:22.046686+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ8A were changed from Primary coenzyme Q10 deficiency 4, 612016; Spinocerebellar Ataxia Type; Coenzyme Q10 deficiency, primary 4, 612016 to Coenzyme Q10 deficiency, primary, 4 MIM#612016",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:19:00.940075+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ8A were set to ",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:17:20.875887+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN6 as ready",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:17:20.868852+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln6 has been classified as Green List (High Evidence).",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:17:09.926016+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLN6 were changed from Ceroid neuronal lipofuscinosis 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Ceroid neuronal lipofuscinosis kufs type, 204300; Ceroid lipofuscinosis, neuronal, 6, 601780 to Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:16:48.001685+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLN6 were set to ",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:16:02.551722+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:14:10.602038+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN2 as ready",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:14:10.584601+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn2 has been classified as Green List (High Evidence).",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:14:08.178342+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLCN2 were changed from {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 to Leukoencephalopathy with ataxia, MIM# 615651",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:13:46.002737+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLCN2 were set to ",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:12:50.432741+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:12:33.500069+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Association with hyperaldosteronism: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing. At least 6 unrelated families reported. Note bi-allelic variants cause a different phenotype.\r\n\r\nAssociation with leukodystrophy: At least six families reported, three with adult onset and three with childhood onset.; to: Association with leukodystrophy is the one relevant to this panel: At least six families reported, three with adult onset and three with childhood onset.",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:12:11.947433+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLCN2: Changed phenotypes: Leukoencephalopathy with ataxia, MIM# 615651; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:10:13.538426+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP41 as ready",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:10:13.531321+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep41 has been classified as Green List (High Evidence).",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:10:10.800968+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP41 were changed from Joubert syndrome 15 to Joubert syndrome 15, MIM# 614464",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:09:53.194945+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP41 were set to ",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:08:46.296391+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP290 as ready",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:08:46.286206+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep290 has been classified as Green List (High Evidence).",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:08:43.628488+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP290 were changed from Joubert syndrome 5 to Joubert syndrome 5, MIM# 610188",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:08:20.406449+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP290 were set to ",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:07:51.636090+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CC2D2A as ready",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:07:51.625722+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cc2d2a has been classified as Green List (High Evidence).",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:07:44.707770+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D2A were changed from Joubert syndrome 9 to Joubert syndrome 9, MIM#612285",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:06:27.611560+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CC2D2A were set to ",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:05:42.381950+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASK as ready",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:05:42.371119+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cask has been classified as Green List (High Evidence).",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:05:34.373870+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASK were changed from FG syndrome 4, 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 to FG syndrome 4, 300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:04:51.271723+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCKDHB as ready",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:04:51.260331+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bckdhb has been classified as Green List (High Evidence).",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:03:50.609214+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP13A2 as ready",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:03:50.601789+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp13a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:01:38.716972+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCD1 as ready",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:01:38.706213+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcd1 has been classified as Green List (High Evidence).",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2025-12-23T13:01:11.756769+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCD1 were changed from Adrenoleukodystrophy to Adrenoleukodystrophy MIM# 300100, XLR",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2025-12-23T12:59:46.890667+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB7 as ready",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2025-12-23T12:59:46.878724+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb7 has been classified as Green List (High Evidence).",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2025-12-23T12:59:44.216841+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB7 were changed from Anemia, sideroblastic, with ataxia; Sideroblastic Anemia and Ataxia; Anemia, sideroblast with ataxia, 300135 to Anaemia, sideroblastic, with ataxia, MIM# 301310",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2025-12-23T12:59:23.103320+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCB7 were set to ",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2025-12-23T10:50:01.110943+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJA3 as ready",
"entity_name": "DNAJA3",
"entity_type": "gene"
},
{
"created": "2025-12-23T10:50:01.100980+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnaja3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAJA3",
"entity_type": "gene"
},
{
"created": "2025-12-22T18:41:28.829633+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene DNAJA3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-22T18:41:28.628109+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJA3 was added\ngene: DNAJA3 was added to Hereditary Neuropathy - complex. Sources: Expert Review Amber,Literature,Literature\nMode of inheritance for gene: DNAJA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJA3 were set to 34750646; 30770860; 41354729\nPhenotypes for gene: DNAJA3 were set to Mitochondrial disease, MONDO:0044970, DNAJA3-related",
"entity_name": "DNAJA3",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:20:24.406883+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis - MIM#606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis - MIM#606164",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:20:13.211773+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS28 were set to 24942156",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:20:01.344928+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPS28 as Green List (high evidence)",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:20:01.336764+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps28 has been classified as Green List (High Evidence).",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:19:49.451197+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPS28: Rating: GREEN; Mode of pathogenicity: None; Publications: 40135709; Phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis - MIM#606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:19:11.794535+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Cleft palate to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164; Cleft palate",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:19:04.899894+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS28 were set to 24942156",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:18:55.221989+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPS28 as Green List (high evidence)",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:18:55.207849+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps28 has been classified as Green List (High Evidence).",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:18:45.450834+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RPS28: Added comment: PMID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence; Changed rating: GREEN; Changed publications: 24942156, 40135709; Changed phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:15:15.995335+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPS28 as Green List (high evidence)",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:15:15.984711+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps28 has been classified as Green List (High Evidence).",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:15:07.570427+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RPS28: Added comment: PMID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence; Changed rating: GREEN; Changed publications: 24942156, 40135709; Changed phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:14:09.340745+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:13:43.277364+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPS28 as Green List (high evidence)",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:13:43.267613+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps28 has been classified as Green List (High Evidence).",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:09:08.375582+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RPS28: Added comment: PMID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence; Changed rating: GREEN; Changed publications: 24942156, 40135709; Changed phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:08:37.079911+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:08:19.314158+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS28 were set to 24942156",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:08:01.859340+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPS28 as Green List (high evidence)",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:08:01.850177+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps28 has been classified as Green List (High Evidence).",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:07:44.650767+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RPS28: Added comment: PMID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence; Changed rating: GREEN; Changed publications: 24942156, 40135709; Changed phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:07:06.792595+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:06:40.256487+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS28 were set to 24942156",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:06:08.975095+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPS28 as Green List (high evidence)",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:06:08.966013+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps28 has been classified as Green List (High Evidence).",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:05:41.942983+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RPS28: Added comment: PMID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence; Changed rating: GREEN; Changed publications: 24942156, 40135709; Changed phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:05:17.000933+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2025-12-22T17:04:51.714015+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS28 were set to PMID: 24942156",
"entity_name": "RPS28",
"entity_type": "gene"
}
]
}