{"count":220314,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=25","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=23","results":[{"created":"2026-02-28T20:18:46.034624+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.186","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their comment","entity_name":"ATP2B3","entity_type":"gene"},{"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"}]}