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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=25",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=23",
"results": [
{
"created": "2026-02-28T20:18:17.999326+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.187",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene ATP2B3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-28T20:08:47.361931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4462",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: PMIDs 25953895, 27653636, 28807751, 36207321 and 37821930 report 11 patients from 8 unrelated families with hemizygous ATP2B3 missense variants causing early‑onset cerebellar ataxia, hypotonia, developmental delay and sometimes seizures or dystonia. 2 of the patients had alternate diagnoses in PMM2 & LAMA1. Functional studies (HeLa Ca2+ assays, yeast complementation, homology modelling) demonstrate loss‑of‑function or altered pump activity. Single reports also link ATP2B3 to autism (PMID 28720891) and fetal akinesia (PMID 31680123).; to: PMIDs 25953895, 27653636, 28807751, 36207321 and 37821930 report 11 patients from 8 unrelated families with hemizygous ATP2B3 missense variants causing early‑onset cerebellar ataxia, hypotonia, developmental delay and sometimes seizures or dystonia. 2 of the patients had alternate diagnoses in PMM2 & LAMA1. Functional studies (HeLa Ca2+ assays, yeast complementation, homology modelling) demonstrate loss‑of‑function or altered pump activity. Single reports also link ATP2B3 to autism (PMID 28720891) and fetal akinesia (PMID 31680123).",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2026-02-28T20:08:12.734640+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4462",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2026-02-28T20:07:50.567209+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4462",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP2B3 as Green List (high evidence)",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2026-02-28T20:07:50.560378+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4462",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp2b3 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2026-02-28T20:06:35.960192+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4461",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ATP2B3 were set to 22912398; 27653636; 27632770",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2026-02-28T20:06:10.976572+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4460",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: ATP2B3: Added comment: PMIDs 25953895, 27653636, 28807751, 36207321 and 37821930 report 11 patients from 8 unrelated families with hemizygous ATP2B3 missense variants causing early‑onset cerebellar ataxia, hypotonia, developmental delay and sometimes seizures or dystonia. 2 of the patients had alternate diagnoses in PMM2 & LAMA1. Functional studies (HeLa Ca2+ assays, yeast complementation, homology modelling) demonstrate loss‑of‑function or altered pump activity. Single reports also link ATP2B3 to autism (PMID 28720891) and fetal akinesia (PMID 31680123).; Changed rating: GREEN; Changed publications: 37821930, 36207321, 31680123, 28807751, 28720891, 27653636, 25953895; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, Syndromic disease, MONDO:0002254, X-linked progressive cerebellar ataxia, MONDO:0010547; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2026-02-28T13:59:39.537894+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4460",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ARPC3 were set to 36928819; 26166300",
"entity_name": "ARPC3",
"entity_type": "gene"
},
{
"created": "2026-02-28T12:43:18.224483+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AQP1 as Green List (high evidence)",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2026-02-28T12:43:18.214033+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aqp1 has been classified as Green List (High Evidence).",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2026-02-28T12:42:51.443391+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.53",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene AQP1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-28T12:42:13.554969+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4459",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AQP1 as Green List (high evidence)",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2026-02-28T12:42:13.548041+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4459",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aqp1 has been classified as Green List (High Evidence).",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2026-02-28T12:41:48.561202+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4458",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: AQP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40229839, 37007933, 35811711, 35627312, 35346192, 29650961; Phenotypes: pulmonary arterial hypertension, MONDO:0015924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2026-02-27T08:02:17.812103+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOC8 as ready",
"entity_name": "EXOC8",
"entity_type": "gene"
},
{
"created": "2026-02-27T08:02:17.805408+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exoc8 has been classified as Green List (High Evidence).",
"entity_name": "EXOC8",
"entity_type": "gene"
},
{
"created": "2026-02-27T08:02:01.259607+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOC8 as ready",
"entity_name": "EXOC8",
"entity_type": "gene"
},
{
"created": "2026-02-27T08:02:01.252667+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exoc8 has been classified as Green List (High Evidence).",
"entity_name": "EXOC8",
"entity_type": "gene"
},
{
"created": "2026-02-27T08:01:21.808552+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EMD were set to 24997722",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2026-02-27T08:00:46.464327+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EMD: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2026-02-27T08:00:37.178957+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMD as Green List (high evidence)",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2026-02-27T08:00:37.168383+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emd has been classified as Green List (High Evidence).",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2026-02-27T08:00:08.148012+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple reports of isolated DCM, including pedigrees with extensive segregation. The p.Val26Ala variant is reported in multiple individuals.; to: Multiple reports of isolated DCM, including pedigrees with extensive segregation. The p.Val26Ala variant is reported in multiple individuals from the Canary Islands ?founder.",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2026-02-27T07:57:55.072820+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 18266676, 24997722, 32755394, 38337354, 40065010; Phenotypes: Cardiomyopathy, dilated, 3C, MIM# 301163; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:53:06.881327+11:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: LIMITED by ClinGen.; to: LIMITED by ClinGen due to relatively high pop frequency of some of the missense variants.",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:52:42.017413+11:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASP10 as Amber List (moderate evidence)",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:52:42.010152+11:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casp10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:52:31.826507+11:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CASP10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:52:03.287569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASP10 as Amber List (moderate evidence)",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:52:03.271818+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casp10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:51:18.452691+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASP10 as Amber List (moderate evidence)",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:51:18.442506+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casp10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:50:12.076718+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRK2 were set to 33200460",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:49:59.788383+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRK2 as Green List (high evidence)",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:49:59.778572+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grk2 has been classified as Green List (High Evidence).",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:49:44.013398+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38647386; Phenotypes: Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:48:59.050932+11:00",
"panel_name": "Skeletal Ciliopathies",
"panel_id": 179,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRK2 were set to 33200460",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:48:32.078395+11:00",
"panel_name": "Skeletal Ciliopathies",
"panel_id": 179,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRK2 as Green List (high evidence)",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:48:32.065804+11:00",
"panel_name": "Skeletal Ciliopathies",
"panel_id": 179,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grk2 has been classified as Green List (High Evidence).",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:48:02.581051+11:00",
"panel_name": "Skeletal Ciliopathies",
"panel_id": 179,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GRK2: Added comment: PMID 38647386 (2024): a novel homozygous p.(Arg474Ter) reported in an individual with Jeune ATD. Both parents are healthy carriers. Additional features include Morgagni hernia and an organoaxial-type rotation anomaly of the stomach and mid-gut malrotation. Same patient has been reported again in PMID: 38585547.; Changed rating: GREEN; Changed publications: 33200460, 38647386",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:47:27.044514+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRK2 were set to 33200460",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:46:56.449034+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRK2 as Green List (high evidence)",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:46:56.441816+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grk2 has been classified as Green List (High Evidence).",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:46:25.083927+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRK2 were set to 33200460",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:46:02.142031+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GRK2: Added comment: PMID 38647386 (2024): a novel homozygous p.(Arg474Ter) reported in an individual with Jeune ATD. Both parents are healthy carriers. Additional features include Morgagni hernia and an organoaxial-type rotation anomaly of the stomach and mid-gut malrotation. Same patient has been reported again in PMID: 38585547.; Changed rating: GREEN; Changed publications: 33200460, 38647386",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:45:25.580768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRK2 as Green List (high evidence)",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2026-02-26T20:45:25.571105+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grk2 has been classified as Green List (High Evidence).",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2026-02-26T15:54:22.552272+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene REC8 from panel Primary Ovarian Insufficiency_Premature Ovarian Failure",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-26T15:54:22.439035+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: REC8 was added\ngene: REC8 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: REC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: REC8 were set to 34794894; 15515002; 34707299\nPhenotypes for gene: REC8 were set to Primary ovarian insufficiency",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-02-26T15:51:55.886458+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4455",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "changed review comment from: PMID 38647386 (2024): a novel homozygous p.(Arg474Ter) reported in an individual with Jeune ATD. Both parents are healthy carriers. Additional features include Morgagni hernia and an organoaxial-type rotation anomaly of the stomach and mid-gut malrotation. Same patient has been reported again in PMID: 38585547.; to: PMID 38647386 (2024): a novel homozygous p.(Arg474Ter) reported in an individual with Jeune ATD. Both parents are healthy carriers. Additional features include Morgagni hernia and an organoaxial-type rotation anomaly of the stomach and mid-gut malrotation. Same patient has been reported again in PMID: 38585547.",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2026-02-26T13:26:28.790028+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP1R12A were changed from Intellectual disability; holoprosencephaly; disorder of sex development to Genitourinary and/or/brain malformation syndrome MIM#618820",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2026-02-26T13:26:14.998760+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP1R12A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Genitourinary and/or/brain malformation syndrome MIM#618820; Mode of inheritance: None",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2026-02-26T13:25:55.789974+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP1R12A were changed from Intellectual disability; holoprosencephaly; disorder of sex development to Genitourinary and/or/brain malformation syndrome MIM#618820",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2026-02-26T13:25:21.956048+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPP1R12A: Changed phenotypes: Genitourinary and/or/brain malformation syndrome MIM#618820",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2026-02-26T13:25:05.592529+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP1R12A were changed from Intellectual disability; holoprosencephaly; disorder of sex development to Genitourinary and/or/brain malformation syndrome MIM#618820",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2026-02-26T13:24:34.198852+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPP1R12A: Changed phenotypes: Genitourinary and/or/brain malformation syndrome MIM#618820",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2026-02-26T13:24:21.713140+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP1R12A were changed from Intellectual disability; holoprosencephaly; disorder of sex development to Genitourinary and/or/brain malformation syndrome MIM#618820",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2026-02-26T13:23:47.718948+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPP1R12A: Changed phenotypes: Genitourinary and/or/brain malformation syndrome MIM#618820",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2026-02-26T13:23:27.337667+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP1R12A were changed from Intellectual disability; holoprosencephaly; disorder of sex development to Genitourinary and/or/brain malformation syndrome MIM#618820",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2026-02-26T11:51:53.447313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4454",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: MCAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 36881526, 33918393, 31915829; Phenotypes: Optic atrophy 15, MIM# 620583, Mitochondrial disease (MONDO:0044970), MCAT-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCAT",
"entity_type": "gene"
},
{
"created": "2026-02-26T11:41:35.635531+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4454",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: GRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38647386; Phenotypes: Jeune asphyxiating thoracic dystrophy (ATD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2026-02-26T10:33:36.734161+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4454",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: CASP10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune lymphoproliferative syndrome, type II, MIM#603909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2026-02-26T10:15:08.913956+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.36",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: CASP10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune lymphoproliferative syndrome, type II, MIM#603909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2026-02-25T20:36:26.752872+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMP22 as ready",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2026-02-25T20:36:26.741685+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmp22 has been classified as Green List (High Evidence).",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2026-02-25T20:36:23.726599+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMP22 were changed from Charcot Marie Tooth disease, type 1A, 118220; Roussy Levy syndrome, 180800; Neuropathy, inflammatory demyelinating, 139393; Neuropathy, recurrent, with pressure palsies, 162500; Charcot Marie Tooth disease, type 1E, 118300; Dejerine Sottas disease, 145900; HMSN to Charcot-Marie-Tooth disease, type 1A, MIM# 118220; Charcot-Marie-Tooth disease, type 1E, MIM# 118300; Dejerine-Sottas disease, MIM# 145900; Neuropathy, recurrent, with pressure palsies 162500; Roussy-Levy syndrome 180800",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2026-02-25T20:35:59.071655+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PMP22 were set to ",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2026-02-25T20:35:36.777997+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMP22 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2026-02-25T20:35:17.430952+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PMP22: Added comment: Addition of studies to support GREEN AR GDA with PMP22. The reported affected individuals present with infantile/early-onset CMT/ Dejerine‑Sottas disease (which is now known as CMT type 3).\r\n\r\nAD GDA (GREEN)\r\nClassified as Definitive ClinGen CMT GCEP in association with Charcot-Marie-Tooth disease type 1A - https://search.clinicalgenome.org/CCID:005837\r\n\r\nClassified as Definitive by ClinGen CMT GCEp in association with hereditary neuropathy with liability to pressure palsies - https://search.clinicalgenome.org/CCID:008314; Changed publications: 32412171, 31777123, 32719652; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2026-02-25T20:33:16.750723+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PMP22 were set to 32356557",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2026-02-25T20:32:57.904726+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMP22 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2026-02-25T15:51:48.729475+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBM12 were changed from to Schizophrenia 19 (MIM#617629)",
"entity_name": "RBM12",
"entity_type": "gene"
},
{
"created": "2026-02-25T15:51:18.525713+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RBM12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Schizophrenia 19 (MIM#617629); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RBM12",
"entity_type": "gene"
},
{
"created": "2026-02-25T15:49:21.090172+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTPA were set to 36073231; 37448355",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2026-02-25T15:48:53.580083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PTPA: Added comment: Further family reported in PMID 37046398 with homozygous missense and early onset PD; however, variant is hmz missense with no supportive data.; Changed publications: 36073231, 37046398",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2026-02-25T15:48:23.030582+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTPA were set to 36073231; 37448355",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2026-02-25T15:47:16.093237+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PTPA: Added comment: Further family reported in PMID 37046398 with homozygous missense and early onset PD; however, variant is hmz missense with no supportive data.; Changed publications: 36073231, 37046398",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:55:11.506648+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEK9 as Green List (high evidence)",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:55:11.495767+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek9 has been classified as Green List (High Evidence).",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:55:00.928890+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEK9: Added comment: Three more families reported with milder phenotypes, but still a range of abnormalities that are potentially detectable on fetal US.; Changed rating: GREEN; Changed publications: 26908619, 21271645, 36712877",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:53:51.510263+11:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK9 were set to 26908619",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:53:20.527415+11:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEK9: Added comment: Another 2 families reported in PMID 36712877 but again with milder arthrogryposis, retain Amber rating on this panel.; Changed publications: 26908619, 21271645, 36712877",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:52:13.277646+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK9 were set to 26908619; 21271645",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:51:40.440248+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEK9: Changed publications: 36712877, 26908619, 21271645",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:51:02.254653+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEK9 as Green List (high evidence)",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:51:02.245936+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek9 has been classified as Green List (High Evidence).",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:50:32.203469+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEK9: Added comment: PMID 36712877: 2 more families reported with neonatal arthrogryposis, contractures, camptodactyly, atrial septal defect, mild pulmonary stenosis, and pyloric stenosis; biallelic LoF variants.\r\n\r\nThe reported disease entities appear to represent a spectrum of disease.; Changed rating: GREEN",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:49:23.414509+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK9 were set to 26908619",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:48:51.830449+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEK9: Added comment: Three more families reported but with milder phenotypes and post-natal presentation, retain Red rating on this panel.; Changed publications: 26908619, 21271645, 36712877; Changed phenotypes: Lethal congenital contracture syndrome 10, MIM# 617022, Skeletal dysplasia",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:44:31.402527+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK9 were set to 26908619; 21271645",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:44:10.327946+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEK9 as Green List (high evidence)",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:44:10.319309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek9 has been classified as Green List (High Evidence).",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:43:45.268409+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEK9: Added comment: PMID 36712877: 2 more families reported with neonatal arthrogryposis, contractures, camptodactyly, atrial septal defect, mild pulmonary stenosis, and pyloric stenosis; biallelic LoF variants.; Changed rating: GREEN; Changed publications: 26908619, 21271645, 36712877",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:38:32.225606+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDNF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:38:19.750155+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDNF: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:38:04.696742+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDNF: Added comment: PMID 36454653: another individual with homozygous LoF variant and Kallman syndrome.; Changed publications: 31883645, 40788466, 36454653; Changed phenotypes: Hypogonadotropic hypogonadism 25 with anosmia MIM#618841",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:37:35.524959+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDNF as ready",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:37:35.514354+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndnf has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:37:24.999769+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDNF were set to 31883645; 40788466",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2026-02-25T14:37:11.426759+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDNF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NDNF",
"entity_type": "gene"
}
]
}