{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=225","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=223","results":[{"created":"2025-05-21T21:30:48.644812+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.349","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc32 has been classified as Green List (High Evidence).","entity_name":"CCDC32","entity_type":"gene"},{"created":"2025-05-21T21:30:36.346458+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.348","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC32 was added\ngene: CCDC32 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CCDC32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC32 were set to 32307552\nPhenotypes for gene: CCDC32 were set to Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123\nReview for gene: CCDC32 was set to GREEN\nAdded comment: Two unrelated consanguineous families with probands with homozygous frameshift variants reported. Phenotype is a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. Functional studies in zebrafish show that ccdc32 depletion impairs cilia formation and shows a role for ccdc32 in craniofacial, brain and left/right axis development. \nSources: Literature","entity_name":"CCDC32","entity_type":"gene"},{"created":"2025-05-21T21:28:55.421108+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.347","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CBY1 as ready","entity_name":"CBY1","entity_type":"gene"},{"created":"2025-05-21T21:28:55.404504+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.347","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cby1 has been classified as Green List (High Evidence).","entity_name":"CBY1","entity_type":"gene"},{"created":"2025-05-21T21:28:40.402490+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.347","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CBY1 as Green List (high evidence)","entity_name":"CBY1","entity_type":"gene"},{"created":"2025-05-21T21:28:40.392674+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.347","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cby1 has been classified as Green List (High Evidence).","entity_name":"CBY1","entity_type":"gene"},{"created":"2025-05-21T21:28:15.661113+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.346","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CBY1 was added\ngene: CBY1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CBY1 were set to 33131181; 25103236; 25220153\nPhenotypes for gene: CBY1 were set to Joubert syndrome, MONDO:0018772, CBY1-related\nReview for gene: CBY1 was set to GREEN\nAdded comment: Two unrelated consanguineous families with LoF variants and multiple animal models. \nSources: Literature","entity_name":"CBY1","entity_type":"gene"},{"created":"2025-05-21T21:00:11.107495+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.345","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTS9 as ready","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2025-05-21T21:00:11.100070+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.345","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts9 has been classified as Red List (Low Evidence).","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2025-05-21T21:00:01.455724+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.345","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADAMTS9 was added\ngene: ADAMTS9 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS9 were set to 30609407\nPhenotypes for gene: ADAMTS9 were set to Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related\nReview for gene: ADAMTS9 was set to RED\nAdded comment: LIMITED by ClinGen, several families reported with bi-allelic variants and variable features of a ciliopathy. However, evidence presented deemed of poor quality due to a variety of factors. RED on this panel. \nSources: Literature","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2025-05-21T20:56:05.479879+10:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BBIP1 were set to 24026985","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:55:53.428648+10:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BBIP1 as Green List (high evidence)","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:55:53.421925+10:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bbip1 has been classified as Green List (High Evidence).","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:55:40.684988+10:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BBIP1: Added comment: Third family with homozygous LoF variant reported; Changed rating: GREEN; Changed publications: 24026985, 32055034, 37239474","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:54:58.259407+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.148","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BBIP1 were set to 24026985","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:54:30.536627+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.147","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BBIP1 as Green List (high evidence)","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:54:30.528862+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.147","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bbip1 has been classified as Green List (High Evidence).","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:54:02.852601+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.146","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BBIP1: Added comment: Third family with homozygous LoF variant reported.; Changed rating: GREEN; Changed publications: 24026985, 32055034, 37239474","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:53:12.381333+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BBIP1 were set to 24026985; 32055034","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:52:47.248945+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BBIP1 as Green List (high evidence)","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:52:47.241807+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bbip1 has been classified as Green List (High Evidence).","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:52:21.489282+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BBIP1: Added comment: Third family with homozygous LoF variant reported; Changed rating: GREEN; Changed publications: 24026985, 32055034, 37239474","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:51:39.698610+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2597","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BBIP1 as Green List (high evidence)","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:51:39.688770+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2597","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bbip1 has been classified as Green List (High Evidence).","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:51:21.133185+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2596","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BBIP1: Added comment: Third family with homozygous LoF variant reported; Changed rating: GREEN; Changed publications: 24026985, 32055034, 37239474","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:50:41.243772+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BBIP1 were set to 24026985; 32055034","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:50:17.715675+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BBIP1 as Green List (high evidence)","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:50:17.708101+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bbip1 has been classified as Green List (High Evidence).","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:49:52.501545+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BBIP1: Added comment: Third family with homozygous LoF variant reported; Changed rating: GREEN; Changed publications: 24026985, 32055034, 37239474","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:48:58.968069+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BBIP1 were set to 24026985; 32055034","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:48:34.024058+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.70","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BBIP1 as Green List (high evidence)","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:48:34.012036+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bbip1 has been classified as Green List (High Evidence).","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:48:07.201672+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BBIP1: Added comment: Third family with homozygous LoF variant reported; Changed rating: GREEN; Changed publications: 24026985, 32055034, 37239474","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:47:30.212083+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.344","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BBIP1 as ready","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:47:30.203977+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.344","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bbip1 has been classified as Green List (High Evidence).","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:47:23.568462+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.344","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BBIP1 as Green List (high evidence)","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:47:23.560953+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.344","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bbip1 has been classified as Green List (High Evidence).","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:47:11.207229+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBIP1 was added\ngene: BBIP1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BBIP1 were set to 24026985; 32055034; 37239474\nPhenotypes for gene: BBIP1 were set to Bardet-Biedl syndrome 18, MIM#615995\nReview for gene: BBIP1 was set to GREEN\nAdded comment: PMID: 24026985 - Single patient with BBS described with bi-allelic variants in this gene.\r\n\r\nPMID: 32055034 - An additional patient with classic BBS with a homozygous splice variant confirmed by RT-PCR to result in NMD\r\n\r\nPMID 37239474: third family with homozygous LoF variant \nSources: Literature","entity_name":"BBIP1","entity_type":"gene"},{"created":"2025-05-21T20:37:24.339090+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.342","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC30A7 as ready","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2025-05-21T20:37:24.332440+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.342","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc30a7 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2025-05-21T20:37:17.855682+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.342","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC30A7 as Amber List (moderate evidence)","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2025-05-21T20:37:17.846105+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.342","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc30a7 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2025-05-21T20:37:04.964161+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.341","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC30A7 was added\ngene: SLC30A7 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SLC30A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC30A7 were set to 35751429\nPhenotypes for gene: SLC30A7 were set to Joubert syndrome (MONDO:0018772), SLC30A7-related\nReview for gene: SLC30A7 was set to AMBER\nAdded comment: PMID: 35751429: Two individuals reported with de novo variants, one missense and one delins resulting in missense. The first individual is a female with history of unilateral postaxial polydactyly, classic molar tooth sign on MRI, macrocephaly, ataxia, ocular motor apraxia, neurodevelopmental delay, and precocious puberty. The second individual had bilateral postaxial polydactyly, molar tooth sign, macrocephaly, developmental delay, and an extra oral frenulum. No functional studies reported. \nSources: Literature","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2025-05-21T20:35:10.603428+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.340","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCNM1 as ready","entity_name":"SCNM1","entity_type":"gene"},{"created":"2025-05-21T20:35:10.595916+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.340","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scnm1 has been classified as Green List (High Evidence).","entity_name":"SCNM1","entity_type":"gene"},{"created":"2025-05-21T20:35:03.280556+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.340","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCNM1 as Green List (high evidence)","entity_name":"SCNM1","entity_type":"gene"},{"created":"2025-05-21T20:35:03.273644+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.340","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scnm1 has been classified as Green List (High Evidence).","entity_name":"SCNM1","entity_type":"gene"},{"created":"2025-05-21T20:34:35.783622+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.339","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCNM1 was added\ngene: SCNM1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCNM1 were set to 36084634\nPhenotypes for gene: SCNM1 were set to Orofaciodigital syndrome XIX, MIM# 620107\nReview for gene: SCNM1 was set to GREEN\nAdded comment: Iturrate (2022): three unrelated families (4 affected) w/ OFD, polydactyly, syndactyly and brachydactyly. All had biallelic variants (fs, missense, AluYc1 sequence insertion) and were consanguinous\r\n- the missense variant was shown to have a splice outcome \nSources: Literature","entity_name":"SCNM1","entity_type":"gene"},{"created":"2025-05-21T20:32:25.764755+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.338","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LEF1 as ready","entity_name":"LEF1","entity_type":"gene"},{"created":"2025-05-21T20:32:25.757487+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.338","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lef1 has been classified as Green List (High Evidence).","entity_name":"LEF1","entity_type":"gene"},{"created":"2025-05-21T20:32:18.614716+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.338","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LEF1 as Green List (high evidence)","entity_name":"LEF1","entity_type":"gene"},{"created":"2025-05-21T20:32:18.604682+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.338","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lef1 has been classified as Green List (High Evidence).","entity_name":"LEF1","entity_type":"gene"},{"created":"2025-05-21T20:32:03.549729+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.337","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LEF1 was added\ngene: LEF1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LEF1 were set to 32022899; 35583550\nPhenotypes for gene: LEF1 were set to Syndromic disease, MONDO:0002254, LEF1-related\nReview for gene: LEF1 was set to GREEN\nAdded comment: Monoallelic variants in LEF1 reported in 11 affected individuals from 4 unrelated families, and a biallelic variant reported in an affected individual from a consanguineous family. The phenotypic spectrum included various limb malformations, such as radial ray defects, polydactyly or split hand/foot, and ectodermal dysplasia. Haploinsufficiency or loss of DNA binding postulated to be responsible for a mild to moderate phenotype, whereas loss of β-catenin binding caused by biallelic variants postulated to be associated with a severe phenotype. \nSources: Literature","entity_name":"LEF1","entity_type":"gene"},{"created":"2025-05-21T20:30:03.046277+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.336","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT57 as ready","entity_name":"IFT57","entity_type":"gene"},{"created":"2025-05-21T20:30:03.036199+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.336","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift57 has been classified as Amber List (Moderate Evidence).","entity_name":"IFT57","entity_type":"gene"},{"created":"2025-05-21T20:29:55.923467+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.336","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IFT57 as Amber List (moderate evidence)","entity_name":"IFT57","entity_type":"gene"},{"created":"2025-05-21T20:29:55.914518+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.336","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift57 has been classified as Amber List (Moderate Evidence).","entity_name":"IFT57","entity_type":"gene"},{"created":"2025-05-21T20:29:36.617843+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.335","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IFT57 was added\ngene: IFT57 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: IFT57 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT57 were set to 40273360\nPhenotypes for gene: IFT57 were set to Bardet-Bield syndrome; ciliopathy - MONDO:0005308, IFT57-related\nReview for gene: IFT57 was set to AMBER\nAdded comment: PMID:40273360 Nitoiu et al 2025 report a male with clinical features of Bardet-Biedl syndrome. Phenotypic features include:\r\n- Vision issues - night vision loss, progressive cone-rod dystrophy leading to legal blindness\r\n- Post-axial polydactyly\r\n- Obesity and type 2 diabetes\r\n- Learning difficulties\r\n- Moderate sensorineural hearing loss\r\n\r\nBiallelic IFT57 variants were identified on short-read genomic sequencing after negative panel-based clinical testing - NM_018010.4 (IFT57): c.1190 T>A;p.(Val397Glu) and c.675del; p.(Lys225Asnfs∗17).\r\n\r\nPatient-derived fibroblasts had fewer primary cilia, abnormal ciliary morphology and abnormal anterograde transport in the primary cilia. IFT57 knockout mouse models did not form primary cilia. Treatment with IFT57-WT restored cilia formation while IFT57-Val397Glu only partially rescued cilia formation in Ift57-KO-mouse cells. \nSources: Literature","entity_name":"IFT57","entity_type":"gene"},{"created":"2025-05-21T20:17:43.558904+10:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAFB as ready","entity_name":"MAFB","entity_type":"gene"},{"created":"2025-05-21T20:17:43.548426+10:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mafb has been classified as Green List (High Evidence).","entity_name":"MAFB","entity_type":"gene"},{"created":"2025-05-21T20:17:36.926823+10:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAFB as Green List (high evidence)","entity_name":"MAFB","entity_type":"gene"},{"created":"2025-05-21T20:17:36.918876+10:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mafb has been classified as Green List (High Evidence).","entity_name":"MAFB","entity_type":"gene"},{"created":"2025-05-21T20:17:16.135250+10:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAFB was added\ngene: MAFB was added to Congenital ophthalmoplegia. Sources: Literature\nMode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAFB were set to 27181683; 34964110; 29779709\nPhenotypes for gene: MAFB were set to Duane retraction syndrome 3, MIM#\t617041\nReview for gene: MAFB was set to GREEN\nAdded comment: At least 5 families reported with variants in this gene and Duane anomaly, supportive functional data. Some individuals also had inner ear agenesis and glomerular disease. \nSources: Literature","entity_name":"MAFB","entity_type":"gene"},{"created":"2025-05-21T06:37:19.730359+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their review","entity_name":"ACADM","entity_type":"gene"},{"created":"2025-05-21T06:36:59.896483+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: ACADM","entity_name":"ACADM","entity_type":"gene"},{"created":"2025-05-21T04:54:45.861135+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACADM as ready","entity_name":"ACADM","entity_type":"gene"},{"created":"2025-05-21T04:54:45.848754+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acadm has been classified as Green List (High Evidence).","entity_name":"ACADM","entity_type":"gene"},{"created":"2025-05-21T04:54:40.819325+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACADM as Green List (high evidence)","entity_name":"ACADM","entity_type":"gene"},{"created":"2025-05-21T04:54:40.812160+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acadm has been classified as Green List (High Evidence).","entity_name":"ACADM","entity_type":"gene"},{"created":"2025-05-20T19:16:22.660112+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.146","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FAM177A1 were changed from Neurodevelopmental disorder, MONDO_0100500, FAM177a1-related to Neurodevelopmental disorder with white matter abnormalities and gait disturbance, MIM# 621152","entity_name":"FAM177A1","entity_type":"gene"},{"created":"2025-05-20T19:15:52.727650+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.145","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FAM177A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with white matter abnormalities and gait disturbance, MIM# 621152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FAM177A1","entity_type":"gene"},{"created":"2025-05-20T19:14:16.520212+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2596","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FAM177A1 were changed from Neurodevelopmental disorder, MONDO_0100500, FAM177A1-related to Neurodevelopmental disorder with white matter abnormalities and gait disturbance, MIM# 621152","entity_name":"FAM177A1","entity_type":"gene"},{"created":"2025-05-20T19:13:50.764829+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2595","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FAM177A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with white matter abnormalities and gait disturbance, MIM# 621152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FAM177A1","entity_type":"gene"},{"created":"2025-05-20T14:43:44.732139+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.2","user_name":"Lilian Downie","item_type":"entity","text":"gene: ACADVL was added\ngene: ACADVL was added to Genomic newborn screening: ICoNS. Sources: Expert list\nMode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACADVL were set to PMID: 20301763; 32885845; 31372341\nPhenotypes for gene: ACADVL were set to VLCAD deficiency\tMIM#201475\nReview for gene: ACADVL was set to GREEN\nAdded comment: Well established gene-disease association.\r\n\r\nVLCAD deficiency can be classified clinically into 3 forms: a severe early-onset form with high incidence of cardiomyopathy and high mortality; an intermediate form with childhood onset, usually with hypoketotic hypoglycemia and more favorable outcome; and an adult-onset, myopathic form with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria after exercise or fasting.\r\n\r\n- Severe disease is associated with no residual enzyme activity, often resulting from null variants. Approximately 81% of pathogenic truncating variants in ACADVL are associated with the severe early-onset form [Andresen et al 1999].\r\n- A specific homozygous missense pathogenic variant (c.709T>C;p.Cys237Arg) leading to low long-chain fatty acid oxidation flux may also be associated with cardiac disease [Diekman et al 2015].\r\n- Milder childhood and adult forms are often associated with residual enzyme activity. The common p.Val283Ala variant, in both homozygous and compound heterozygous genotypes, is typically associated with the non-cardiac phenotypes [Spiekerkoetter et al 2009, Diekman et al 2015, Miller et al 2015].\r\n\r\nTreatment: avoid fasting, carnitine, restrict LCFA, bezafibrate, triheptanoin \r\n\r\nOn BabyScreen+, BabySeq, BeginNGS, Guardian, Generation and EarlyCheck \nSources: Expert list","entity_name":"ACADVL","entity_type":"gene"},{"created":"2025-05-20T14:35:23.891016+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.1","user_name":"Lilian Downie","item_type":"entity","text":"gene: ACADM was added\ngene: ACADM was added to Genomic newborn screening: ICoNS. Sources: Expert list\nMode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of\tMIM# 201450\nReview for gene: ACADM was set to GREEN\nAdded comment: Well established gene-disease association.\r\n\r\nInherited deficiency of medium-chain acyl-CoA dehydrogenase is characterized by intolerance to prolonged fasting, recurrent episodes of hypoglycemic coma with medium-chain dicarboxylic aciduria, impaired ketogenesis, and low plasma and tissue carnitine levels. Can be severe, potentially fatal.\r\n\r\nTypical presentation is between 3 and 24 months.\r\n\r\nMore than 98% of cases of MCAD deficiency have a pathogenic variant in ACADM, with the c.985A>G variant accounting for between 56-91% of cases.\r\n\r\nTreatment: management plan to avoid fasting.\r\n\r\nClinGen: Strong Actionability in paediatric patients.\r\n\r\nNon-genetic confirmatory tests: Urine acylglycine analysis\r\n\r\nIncluded in BabyScreen+, BabySeq, BeginNGS, Guardian, Generation, EarlyCheck \nSources: Expert list","entity_name":"ACADM","entity_type":"gene"},{"created":"2025-05-20T13:26:21.552811+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.80","user_name":"Jasmine Chew","item_type":"entity","text":"gene: NLRP14 was added\ngene: NLRP14 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: NLRP14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NLRP14 were set to 38060382\nPhenotypes for gene: NLRP14 were set to Oocyte maturation defect and early embryo arrest\nReview for gene: NLRP14 was set to AMBER\nAdded comment: PMID: 38060382- Compound heterozygous variants (p.Cys428Profs∗28/p.Leu887delinsArgTyr) reported in an infertile woman with oocyte maturation defects and early embryo arrest (EEA). \r\n- Functional analysis showed comparable protein levels compared with the wild-type control, although a truncated band of the expected size (47 kDa) was observed for the p.Cys428Profs∗28 variant. \r\n-The truncated variant, p.Cys428Profs∗28, is lacking the LRR domain and, hence, completely loses the ability to bind with UHRF1. The p.Leu887delinsArgTyr variant results in significant alteration in binding modes with decreased binding area and binding free energy, which introduced regional instability in the NLRP14-UHRF1 interaction. The interaction of both variants and UHRF1 was disrupted and might lead to increased UHRF1 protein degradation in oocytes. \nSources: Literature","entity_name":"NLRP14","entity_type":"gene"},{"created":"2025-05-20T13:24:28.631622+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.80","user_name":"Jasmine Chew","item_type":"entity","text":"edited their review of gene: OOEP: Changed phenotypes: Recurrent preimplantation embryonic arrest, Female infertility due to oocyte meiotic arrest, MONDO:0044626","entity_name":"OOEP","entity_type":"gene"},{"created":"2025-05-20T13:23:16.037162+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.80","user_name":"Jasmine Chew","item_type":"entity","text":"gene: OOEP was added\ngene: OOEP was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: OOEP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OOEP were set to 35946397\nPhenotypes for gene: OOEP were set to Recurrent preimplantation embryonic arrest\nReview for gene: OOEP was set to AMBER\nAdded comment: i) PMID: 35946397- Compound heterozygous missense variants (p.Arg37Gly and p.Arg37Pro) identified in a patient who experienced recurrent preimplantation embryonic arrest. \r\n- Immunofluorescence and western blot analysis showed that both variants lead to reduced OOEP protein expression compared with that in the wild type. \r\n- Transcriptomic analysis showed that mutant OOEP‐affected embryos had downregulation of gene transcripts, indicating that substantial number of mRNAs were not transcribed or were decayed in the affected embryo.  The GO analysis results revealed that these downregulated genes were mainly enriched in protein binding, translation, mRNA processing, and mitochondrial function.  \r\n\r\nii) PMID: 39379527- showed functionally that the two reported variants result in significantly destabilizing intercomponent interactions among the  subcortical maternal complex (SCMC) subunits. \nSources: Literature","entity_name":"OOEP","entity_type":"gene"},{"created":"2025-05-20T12:01:30.888025+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.159","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PDE6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 8394174, 7599633, 18854872, 33177553, 33673512, 25827439; Phenotypes: inherited retinal dystrophy MONDO:0019118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDE6B","entity_type":"gene"},{"created":"2025-05-20T09:23:18.094587+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.159","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: NR2E3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10655056, 11071390, 18294254, 40317544, 38444285, 22605927; Phenotypes: Enhanced S-cone syndrome MONDO:0100288, retinitis pigmentosa 37 MONDO:0012625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NR2E3","entity_type":"gene"},{"created":"2025-05-20T01:44:11.475436+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.215","user_name":"Sarah Leigh","item_type":"entity","text":"reviewed gene: GJB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19416251, 24522190, 29921236, 40369851; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GJB6","entity_type":"gene"},{"created":"2025-05-19T20:58:14.803679+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.145","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GTF3C3 were changed from Neurodevelopmental disorder MONDO:0700092, GTF3C3-related to Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MIM# 621201","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2025-05-19T20:57:45.640719+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.144","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GTF3C3: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MIM# 621201","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2025-05-19T20:57:27.843411+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.150","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GTF3C3 were changed from Neurodevelopmental disorder MONDO:0700092, GTF3C3-related to Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MIM# 621201","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2025-05-19T20:56:51.935078+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.149","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GTF3C3: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MIM# 621201","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2025-05-19T20:56:27.234712+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2595","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GTF3C3 were changed from Neurodevelopmental disorder MONDO:0700092, GTF3C3-related to Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MIM# 621201","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2025-05-19T20:56:05.094197+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2594","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GTF3C3: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MIM# 621201","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2025-05-19T20:54:58.186914+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.144","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTPMT1 were changed from inborn mitochondrial metabolism disorder MONDO:0004069 to Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199","entity_name":"PTPMT1","entity_type":"gene"},{"created":"2025-05-19T20:54:22.293417+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.143","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PTPMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTPMT1","entity_type":"gene"},{"created":"2025-05-19T20:53:55.782309+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.975","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTPMT1 were changed from Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199 to Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199","entity_name":"PTPMT1","entity_type":"gene"},{"created":"2025-05-19T20:53:38.890845+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.975","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTPMT1 were changed from inborn mitochondrial metabolism disorder MONDO:0004069 to Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199","entity_name":"PTPMT1","entity_type":"gene"},{"created":"2025-05-19T20:53:04.947531+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.974","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PTPMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTPMT1","entity_type":"gene"},{"created":"2025-05-19T20:52:41.960450+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2594","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTPMT1 were changed from inborn mitochondrial metabolism disorder MONDO:0004069 to Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199","entity_name":"PTPMT1","entity_type":"gene"},{"created":"2025-05-19T20:52:20.277116+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2593","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PTPMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTPMT1","entity_type":"gene"},{"created":"2025-05-19T14:22:28.174878+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.159","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11231775, 11389483, 16543197; Phenotypes: Leber congenital amaurosis 8 MONDO:0013453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CRB1","entity_type":"gene"},{"created":"2025-05-19T13:05:48.781052+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.159","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: BEST1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29668979, 39803400, 39259030; Phenotypes: autosomal recessive bestrophinopathy MONDO:0012733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BEST1","entity_type":"gene"},{"created":"2025-05-19T02:40:46.275639+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.334","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WNT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tetra-amelia syndrome 1, OMIM #273395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WNT3","entity_type":"gene"},{"created":"2025-05-19T02:40:10.917307+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: WNT3: LIMITED by ClinGen.","entity_name":"WNT3","entity_type":"gene"},{"created":"2025-05-19T02:39:36.360744+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2593","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: WNT3: LIMITED by ClinGen.","entity_name":"WNT3","entity_type":"gene"},{"created":"2025-05-18T04:50:02.416466+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.334","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPP2R5C were changed from macrocephaly; overgrowth to Houge-Janssens syndrome 4, MIM# 621185","entity_name":"PPP2R5C","entity_type":"gene"}]}