{"count":220759,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=170","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=168","results":[{"created":"2025-09-11T18:34:35.184981+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNJ15 as ready","entity_name":"KCNJ15","entity_type":"gene"},{"created":"2025-09-11T18:34:35.177839+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnj15 has been classified as Red List (Low Evidence).","entity_name":"KCNJ15","entity_type":"gene"},{"created":"2025-09-11T18:34:28.881951+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.38","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNJ15 was added\ngene: KCNJ15 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: KCNJ15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNJ15 were set to 40566643\nPhenotypes for gene: KCNJ15 were set to Parkinson disease, MONDO:0005180, KCNJ15-related\nReview for gene: KCNJ15 was set to RED\nAdded comment: Single multiplex family reported with a missense variant and functional data. \nSources: Literature","entity_name":"KCNJ15","entity_type":"gene"},{"created":"2025-09-11T18:31:26.940690+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3071","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TFCP2L1 as ready","entity_name":"TFCP2L1","entity_type":"gene"},{"created":"2025-09-11T18:31:26.933314+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3071","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfcp2l1 has been classified as Amber List (Moderate Evidence).","entity_name":"TFCP2L1","entity_type":"gene"},{"created":"2025-09-11T18:31:14.491092+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3071","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TFCP2L1 as Amber List (moderate evidence)","entity_name":"TFCP2L1","entity_type":"gene"},{"created":"2025-09-11T18:31:14.483836+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3071","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfcp2l1 has been classified as Amber List (Moderate Evidence).","entity_name":"TFCP2L1","entity_type":"gene"},{"created":"2025-09-11T18:30:50.862011+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3070","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TFCP2L1 was added\ngene: TFCP2L1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TFCP2L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TFCP2L1 were set to 40569305; 33097957\nPhenotypes for gene: TFCP2L1 were set to CAKUT, MONDO:0019719, TFGP2L1-related\nReview for gene: TFCP2L1 was set to AMBER\nAdded comment: PMID 40569305: consanguineous preterm male infant with a clinical picture of advanced kidney dysfunction and severe renal salt-wasting, highly suggestive of prenatal onset Bartter syndrome. Patient's follow-up was characterized by severe polyuria; episodes of hyponatremia, hypokalemia, and hypochloremia; and metabolic alkalosis and hyperuricemia. Homozygous variant in the TFCP2L1 gene identified. TFCP2L1 is a transcription factor required for normal kidney development, that regulates acid-base and salt-water homeostasis.\r\n\r\nPMID 33097957: infant who developed CKD by the age of 2 months and had episodes of severe hypochloraemic, hyponatraemic and hypokalaemic alkalosis, seizures, developmental delay and hypotonia together with cataracts. Homozygous LoF variant.\r\n\r\nTFCP2L1 is localized throughout kidney development particularly in the distal nephron. TFCP2L1 induced the growth and development of renal tubules from rat mesenchymal cells. Conversely, the deletion of TFCP2L1 in mice was previously shown to lead to reduced expression of renal cell markers including ion transporters and cell identity proteins expressed in different segments of the distal nephron. TFCP2L1 localized to the nucleus in HEK293T cells only upon coexpression with its paralog upstream-binding protein 1 (UBP1). A TFCP2L1 mutant complementary DNA (cDNA) clone that represented the patient's mutation failed to form homo- and heterodimers with UBP1, an essential step for its transcriptional activity. \nSources: Literature","entity_name":"TFCP2L1","entity_type":"gene"},{"created":"2025-09-11T18:28:59.810921+10:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TFCP2L1 as ready","entity_name":"TFCP2L1","entity_type":"gene"},{"created":"2025-09-11T18:28:59.796900+10:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfcp2l1 has been classified as Amber List (Moderate Evidence).","entity_name":"TFCP2L1","entity_type":"gene"},{"created":"2025-09-11T18:28:56.367109+10:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TFCP2L1 as Amber List (moderate evidence)","entity_name":"TFCP2L1","entity_type":"gene"},{"created":"2025-09-11T18:28:56.359489+10:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfcp2l1 has been classified as Amber List (Moderate Evidence).","entity_name":"TFCP2L1","entity_type":"gene"},{"created":"2025-09-11T18:28:47.562682+10:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TFCP2L1 was added\ngene: TFCP2L1 was added to Renal Tubulopathies and related disorders. Sources: Literature\nMode of inheritance for gene: TFCP2L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TFCP2L1 were set to 40569305; 33097957\nPhenotypes for gene: TFCP2L1 were set to CAKUT, MONDO:0019719, TFGP2L1-related\nReview for gene: TFCP2L1 was set to AMBER\nAdded comment: PMID 40569305: consanguineous preterm male infant with a clinical picture of advanced kidney dysfunction and severe renal salt-wasting, highly suggestive of prenatal onset Bartter syndrome. Patient's follow-up was characterized by severe polyuria; episodes of hyponatremia, hypokalemia, and hypochloremia; and metabolic alkalosis and hyperuricemia. Homozygous variant in the TFCP2L1 gene identified. TFCP2L1 is a transcription factor required for normal kidney development, that regulates acid-base and salt-water homeostasis.\r\n\r\nPMID 33097957: infant who developed CKD by the age of 2 months and had episodes of severe hypochloraemic, hyponatraemic and hypokalaemic alkalosis, seizures, developmental delay and hypotonia together with cataracts. Homozygous LoF variant.\r\n\r\nTFCP2L1 is localized throughout kidney development particularly in the distal nephron. TFCP2L1 induced the growth and development of renal tubules from rat mesenchymal cells. Conversely, the deletion of TFCP2L1 in mice was previously shown to lead to reduced expression of renal cell markers including ion transporters and cell identity proteins expressed in different segments of the distal nephron. TFCP2L1 localized to the nucleus in HEK293T cells only upon coexpression with its paralog upstream-binding protein 1 (UBP1). A TFCP2L1 mutant complementary DNA (cDNA) clone that represented the patient's mutation failed to form homo- and heterodimers with UBP1, an essential step for its transcriptional activity. \nSources: Literature","entity_name":"TFCP2L1","entity_type":"gene"},{"created":"2025-09-11T18:19:55.581428+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"2.13","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: PIH1D3.","entity_name":"PIH1D3","entity_type":"gene"},{"created":"2025-09-11T18:19:40.994828+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.411","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: PIH1D3.","entity_name":"PIH1D3","entity_type":"gene"},{"created":"2025-09-11T18:19:09.899723+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: PIH1D3.","entity_name":"PIH1D3","entity_type":"gene"},{"created":"2025-09-11T18:18:57.334797+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.55","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: PIH1D3.","entity_name":"PIH1D3","entity_type":"gene"},{"created":"2025-09-11T18:18:41.091086+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3069","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: PIH1D3.","entity_name":"PIH1D3","entity_type":"gene"},{"created":"2025-09-11T18:16:04.639399+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3069","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCAS2 as ready","entity_name":"BCAS2","entity_type":"gene"},{"created":"2025-09-11T18:16:04.631608+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3069","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcas2 has been classified as Red List (Low Evidence).","entity_name":"BCAS2","entity_type":"gene"},{"created":"2025-09-11T18:15:55.880213+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3069","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCAS2 was added\ngene: BCAS2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BCAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BCAS2 were set to 40585763\nPhenotypes for gene: BCAS2 were set to Hyper IgM syndrome, MONDO:0003947, BCAS2-related\nReview for gene: BCAS2 was set to RED\nAdded comment: Extensive functional work, however a single individual reported with non-coding variant, 3'UTR. \nSources: Literature","entity_name":"BCAS2","entity_type":"gene"},{"created":"2025-09-11T18:14:16.081509+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCAS2 as ready","entity_name":"BCAS2","entity_type":"gene"},{"created":"2025-09-11T18:14:16.073685+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcas2 has been classified as Red List (Low Evidence).","entity_name":"BCAS2","entity_type":"gene"},{"created":"2025-09-11T18:12:03.555437+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCAS2 was added\ngene: BCAS2 was added to Predominantly Antibody Deficiency. Sources: Literature\nMode of inheritance for gene: BCAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BCAS2 were set to 40585763\nPhenotypes for gene: BCAS2 were set to Hyper IgM syndrome, MONDO:0003947, BCAS2-related\nReview for gene: BCAS2 was set to RED\nAdded comment: Extensive functional work, however a single individual reported with non-coding variant, 3'UTR. \nSources: Literature","entity_name":"BCAS2","entity_type":"gene"},{"created":"2025-09-11T17:12:51.367750+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSG1 as ready","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T17:12:51.357513+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsg1 has been classified as Green List (High Evidence).","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T17:12:36.757829+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RSG1 as Green List (high evidence)","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T17:12:36.747501+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsg1 has been classified as Green List (High Evidence).","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T17:12:17.441991+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RSG1 was added\ngene: RSG1 was added to Polydactyly. Sources: Literature\nMode of inheritance for gene: RSG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RSG1 were set to 40593758\nPhenotypes for gene: RSG1 were set to Ciliopathy, MONDO:0005308, RSG1-related\nReview for gene: RSG1 was set to GREEN\nAdded comment: Three individuals from unrelated families reported with bi-allelic variants and displaying cleft palate, tongue lobulations and polydactyly, phenotypes characteristic of Oral-Facial-Digital Syndrome. Variants were shown to disrupt two vital steps of ciliogenesis, basal body docking and recruitment of intraflagellar transport proteins. \nSources: Literature","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T17:11:05.423039+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSG1 as ready","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T17:11:05.416175+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsg1 has been classified as Green List (High Evidence).","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T17:11:02.132372+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RSG1 as Green List (high evidence)","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T17:11:02.123011+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsg1 has been classified as Green List (High Evidence).","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T17:10:54.559079+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.269","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RSG1 was added\ngene: RSG1 was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: RSG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RSG1 were set to 40593758\nPhenotypes for gene: RSG1 were set to Ciliopathy, MONDO:0005308, RSG1-related\nReview for gene: RSG1 was set to GREEN\nAdded comment: Three individuals from unrelated families reported with bi-allelic variants and displaying cleft palate, tongue lobulations and polydactyly, phenotypes characteristic of Oral-Facial-Digital Syndrome. Variants were shown to disrupt two vital steps of ciliogenesis, basal body docking and recruitment of intraflagellar transport proteins. \nSources: Literature","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T17:10:42.320882+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3068","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSG1 as ready","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T17:10:42.313320+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3068","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsg1 has been classified as Green List (High Evidence).","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T17:09:58.186351+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3068","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RSG1 as Green List (high evidence)","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T17:09:58.169532+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3068","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsg1 has been classified as Green List (High Evidence).","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T17:09:46.481910+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3067","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RSG1 was added\ngene: RSG1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RSG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RSG1 were set to 40593758\nPhenotypes for gene: RSG1 were set to Ciliopathy, MONDO:0005308, RSG1-related\nReview for gene: RSG1 was set to GREEN\nAdded comment: Three individuals from unrelated families reported with bi-allelic variants and displaying cleft palate, tongue lobulations and polydactyly, phenotypes characteristic of Oral-Facial-Digital Syndrome. Variants were shown to disrupt two vital steps of ciliogenesis, basal body docking and recruitment of intraflagellar transport proteins. \nSources: Literature","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T17:08:31.036784+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.411","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSG1 as ready","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T17:08:31.029411+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.411","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsg1 has been classified as Green List (High Evidence).","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T17:08:27.344168+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.411","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RSG1 as Green List (high evidence)","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T17:08:27.335111+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.411","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsg1 has been classified as Green List (High Evidence).","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T16:57:07.398347+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.410","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMBIM4 as Red List (low evidence)","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T16:57:07.391754+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.410","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmbim4 has been classified as Red List (Low Evidence).","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T16:56:58.527202+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.409","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TMBIM4: Changed rating: RED","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T16:56:43.291118+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3066","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMBIM4 as Red List (low evidence)","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T16:56:43.283935+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3066","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmbim4 has been classified as Red List (Low Evidence).","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T16:56:29.012027+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3065","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TMBIM4: Changed rating: RED","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T16:55:53.647460+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMBIM4 as Red List (low evidence)","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T16:55:53.639804+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmbim4 has been classified as Red List (Low Evidence).","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T16:55:31.820829+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TMBIM4: Changed rating: RED","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T16:55:21.615017+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.457","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMBIM4 as Red List (low evidence)","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T16:55:21.607984+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.457","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmbim4 has been classified as Red List (Low Evidence).","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T16:54:57.789608+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.456","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TMBIM4: Changed rating: RED","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T15:57:58.532335+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.150","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: PPP2R1A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Houge-Janssens syndrome 2 MIM#616362; Mode of inheritance: None","entity_name":"PPP2R1A","entity_type":"gene"},{"created":"2025-09-11T15:51:40.304738+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3065","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: PPP1R12A: Rating: ; 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":"2025-09-11T15:48:02.770997+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3065","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: PPM1F: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis MONDO:0001751, PPM1F-related; Mode of inheritance: None","entity_name":"PPM1F","entity_type":"gene"},{"created":"2025-09-11T14:00:50.202590+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.409","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RSG1 as Green List (high evidence)","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T14:00:50.194138+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.409","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsg1 has been classified as Green List (High Evidence).","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T14:00:39.138493+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.408","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RSG1 was added\ngene: RSG1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: RSG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RSG1 were set to 40593758\nPhenotypes for gene: RSG1 were set to Ciliopathy, MONDO:0005308, RSG1-related\nReview for gene: RSG1 was set to GREEN\nAdded comment: Three individuals from unrelated families reported with bi-allelic variants and displaying cleft palate, tongue lobulations and polydactyly, phenotypes characteristic of Oral-Facial-Digital Syndrome. Variants were shown to disrupt two vital steps of ciliogenesis, basal body docking and recruitment of intraflagellar transport proteins. \nSources: Literature","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T13:59:36.731720+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.84","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSG1 as ready","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T13:59:36.720408+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsg1 has been classified as Green List (High Evidence).","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T13:59:33.130893+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.84","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RSG1 as Green List (high evidence)","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T13:59:33.120051+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsg1 has been classified as Green List (High Evidence).","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T13:59:14.272514+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RSG1 was added\ngene: RSG1 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: RSG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RSG1 were set to 40593758\nPhenotypes for gene: RSG1 were set to Ciliopathy, MONDO:0005308, RSG1-related\nReview for gene: RSG1 was set to GREEN\nAdded comment: Three individuals from unrelated families reported with bi-allelic variants and displaying cleft palate, tongue lobulations and polydactyly, phenotypes characteristic of Oral-Facial-Digital Syndrome. Variants were shown to disrupt two vital steps of ciliogenesis, basal body docking and recruitment of intraflagellar transport proteins. \nSources: Literature","entity_name":"RSG1","entity_type":"gene"},{"created":"2025-09-11T13:55:05.384148+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3065","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ICK as ready","entity_name":"ICK","entity_type":"gene"},{"created":"2025-09-11T13:55:05.379531+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3065","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: HGNC approved name is CILK1","entity_name":"ICK","entity_type":"gene"},{"created":"2025-09-11T13:55:05.344598+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3065","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ick has been classified as Green List (High Evidence).","entity_name":"ICK","entity_type":"gene"},{"created":"2025-09-11T13:54:45.215656+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3065","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ICK.","entity_name":"ICK","entity_type":"gene"},{"created":"2025-09-11T13:54:31.446684+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.82","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ICK as ready","entity_name":"ICK","entity_type":"gene"},{"created":"2025-09-11T13:54:31.443663+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.82","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: HGNC approved name is CILK1","entity_name":"ICK","entity_type":"gene"},{"created":"2025-09-11T13:54:31.418295+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ick has been classified as Green List (High Evidence).","entity_name":"ICK","entity_type":"gene"},{"created":"2025-09-11T13:54:16.393620+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.82","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ICK.","entity_name":"ICK","entity_type":"gene"},{"created":"2025-09-11T13:52:31.250159+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMBIM4 as ready","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:52:31.239902+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmbim4 has been classified as Amber List (Moderate Evidence).","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:51:56.407154+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.407","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMBIM4 as ready","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:51:56.399857+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.407","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmbim4 has been classified as Amber List (Moderate Evidence).","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:51:52.964878+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.407","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMBIM4 as Amber List (moderate evidence)","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:51:52.953868+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.407","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmbim4 has been classified as Amber List (Moderate Evidence).","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:51:44.054234+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.456","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMBIM4 as ready","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:51:44.046932+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.456","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmbim4 has been classified as Amber List (Moderate Evidence).","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:51:38.919036+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.456","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMBIM4 as Amber List (moderate evidence)","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:51:38.911937+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.456","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmbim4 has been classified as Amber List (Moderate Evidence).","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:51:16.113285+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.406","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMBIM4 was added\ngene: TMBIM4 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: TMBIM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMBIM4 were set to 40744297; 21282601; 28991257\nPhenotypes for gene: TMBIM4 were set to Visceral heterotaxy MONDO:0018677, TMBIM4-related\nReview for gene: TMBIM4 was set to AMBER\nAdded comment: Rare deleterious variants enriched in CHD cohorts, supportive functional data. \nSources: Literature","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:50:21.007391+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.455","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMBIM4 was added\ngene: TMBIM4 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: TMBIM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMBIM4 were set to 40744297; 21282601; 28991257\nPhenotypes for gene: TMBIM4 were set to Visceral heterotaxy MONDO:0018677, TMBIM4-related\nReview for gene: TMBIM4 was set to AMBER\nAdded comment: Rare deleterious variants enriched in CHD cohorts, supportive functional data. \nSources: Literature","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:48:57.273510+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMBIM4 as ready","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:48:57.265477+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmbim4 has been classified as Amber List (Moderate Evidence).","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:48:11.884782+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMBIM4 as Amber List (moderate evidence)","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:48:11.877651+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmbim4 has been classified as Amber List (Moderate Evidence).","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:48:00.816623+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3065","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMBIM4 as ready","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:48:00.804113+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3065","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmbim4 has been classified as Amber List (Moderate Evidence).","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:47:51.876332+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3065","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMBIM4 as Amber List (moderate evidence)","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:47:51.868287+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3065","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmbim4 has been classified as Amber List (Moderate Evidence).","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:47:37.837559+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3064","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMBIM4 was added\ngene: TMBIM4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMBIM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMBIM4 were set to 40744297; 21282601; 28991257\nPhenotypes for gene: TMBIM4 were set to Visceral heterotaxy MONDO:0018677, TMBIM4-related\nReview for gene: TMBIM4 was set to AMBER\nAdded comment: Rare deleterious variants enriched in CHD cohorts, supportive functional data. \nSources: Literature","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T13:46:23.602155+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMBIM4 was added\ngene: TMBIM4 was added to Heterotaxy. Sources: Literature\nMode of inheritance for gene: TMBIM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMBIM4 were set to 40744297; 21282601; 28991257\nPhenotypes for gene: TMBIM4 were set to Visceral heterotaxy MONDO:0018677, TMBIM4-related\nReview for gene: TMBIM4 was set to AMBER\nAdded comment: Rare deleterious variants enriched in CHD cohorts, supportive functional data. \nSources: Literature","entity_name":"TMBIM4","entity_type":"gene"},{"created":"2025-09-11T12:38:28.305230+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3063","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZNF319 as ready","entity_name":"ZNF319","entity_type":"gene"},{"created":"2025-09-11T12:38:28.297812+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3063","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf319 has been classified as Red List (Low Evidence).","entity_name":"ZNF319","entity_type":"gene"},{"created":"2025-09-11T12:38:11.293395+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3063","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF319 was added\ngene: ZNF319 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZNF319 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF319 were set to 40820230\nPhenotypes for gene: ZNF319 were set to Leukodystrophy, MONDO:0019046, ZNF319-related\nReview for gene: ZNF319 was set to RED\nAdded comment: Single individual with homozygous missense variant reported, p.Phe267Ser.\r\n\r\n18-year-old male presenting with spasticity, ataxia, cognitive decline, and white matter abnormalities on MRI. Molecular dynamics simulations revealed that F267 is a stabilizing residue within a β-strand of the zinc finger domain, forming π-stacking and hydrophobic interactions that are lost upon substitution with serine, leading to structural instability, increased flexibility, and protein unfolding. Despite normal transcript and protein expression, ZNF319-F267S mislocalized to the cytoplasm due to disruption of its bipartite nuclear localization signal (NLS), resulting in impaired interaction with importin α1 (KPNA1). Functional analysis confirmed that the variant disrupts nuclear transport and prevents transcriptional activation of genes involved in myelination. Protein interaction network and gene ontology analysis highlighted ZNF319's role in transcriptional regulation and its localization in the CHOP-C/EBP transcriptional complex. Expression profiling demonstrated ZNF319 enrichment in oligodendrocytes and white matter regions, correlating with the observed leukoencephalopathy. \nSources: Literature","entity_name":"ZNF319","entity_type":"gene"},{"created":"2025-09-11T12:31:51.262950+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POMT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1 613155 to Myopathy caused by variation in POMT1 MONDO:0700070","entity_name":"POMT1","entity_type":"gene"}]}