{"count":221303,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=236","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=234","results":[{"created":"2025-05-01T18:25:48.267992+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2552","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NOS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NOS3","entity_type":"gene"},{"created":"2025-05-01T18:25:29.973713+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2551","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NOS3 as Amber List (moderate evidence)","entity_name":"NOS3","entity_type":"gene"},{"created":"2025-05-01T18:25:29.963184+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2551","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nos3 has been classified as Amber List (Moderate Evidence).","entity_name":"NOS3","entity_type":"gene"},{"created":"2025-05-01T18:24:30.450057+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KEL as ready","entity_name":"KEL","entity_type":"gene"},{"created":"2025-05-01T18:24:30.443893+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kel has been classified as Red List (Low Evidence).","entity_name":"KEL","entity_type":"gene"},{"created":"2025-05-01T18:24:24.352097+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KEL was added\ngene: KEL was added to Cerebral vascular malformations. Sources: Literature\nMode of inheritance for gene: KEL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KEL were set to 30578106; 37978175\nPhenotypes for gene: KEL were set to vein of Galen aneurysm, MONDO:0015196\nReview for gene: KEL was set to RED\nAdded comment: PMID:37978175 reported a cohort of 114 probands with radiographically confirmed vein of Galen malformations (VOGMs), which is the most common and most severe of congenital brain arteriovenous malformations. This includes 55 cases already reported in PMID:30578106. Of these cases, only two were identified with variants in KEL gene (p.(Gln321Ter) & p.(Gly202Ser)).There is no functional evidence or segregation evidence available. \nSources: Literature","entity_name":"KEL","entity_type":"gene"},{"created":"2025-05-01T18:22:57.548251+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2550","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KEL were changed from [Blood group, Kell]\t110900 to vein of Galen aneurysm, MONDO:0015196","entity_name":"KEL","entity_type":"gene"},{"created":"2025-05-01T18:22:33.928185+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2549","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KEL were set to ","entity_name":"KEL","entity_type":"gene"},{"created":"2025-05-01T18:22:19.024023+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2548","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KEL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KEL","entity_type":"gene"},{"created":"2025-05-01T18:21:52.801052+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2547","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KEL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: vein of Galen aneurysm, MONDO:0015196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KEL","entity_type":"gene"},{"created":"2025-05-01T18:14:31.940536+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.132","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GAP43 as ready","entity_name":"GAP43","entity_type":"gene"},{"created":"2025-05-01T18:14:31.933867+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.132","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gap43 has been classified as Red List (Low Evidence).","entity_name":"GAP43","entity_type":"gene"},{"created":"2025-05-01T18:14:23.848558+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.132","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GAP43 was added\ngene: GAP43 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GAP43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GAP43 were set to 39738362\nPhenotypes for gene: GAP43 were set to neurodevelopmental disorder, MONDO:0700092, GAP43-related\nReview for gene: GAP43 was set to RED\nAdded comment: PMID:39738362 reported the identification of a heterozygous missense variant in the GAP43 gene (p.(Glu146Lys)) in a 15-year-old female patient with moderate intellectual disability, neurodevelopmental disorders, short stature, and skeletal abnormalities such as left-right difference in legs and digital deformities.\r\n\r\nThe variant GAP43 protein was found to be unstable in neuronal cells and the disruption of Gap43 in mouse embryonic cortical neurons impaired axonal elongation and dendrite formation. \nSources: Literature","entity_name":"GAP43","entity_type":"gene"},{"created":"2025-05-01T18:09:54.532430+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.328","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SIRT6 as ready","entity_name":"SIRT6","entity_type":"gene"},{"created":"2025-05-01T18:09:54.526079+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.328","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sirt6 has been classified as Amber List (Moderate Evidence).","entity_name":"SIRT6","entity_type":"gene"},{"created":"2025-05-01T18:08:06.736013+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.328","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SIRT6 as Amber List (moderate evidence)","entity_name":"SIRT6","entity_type":"gene"},{"created":"2025-05-01T18:08:06.729100+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.328","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sirt6 has been classified as Amber List (Moderate Evidence).","entity_name":"SIRT6","entity_type":"gene"},{"created":"2025-05-01T18:07:55.456904+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.327","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SIRT6 was added\ngene: SIRT6 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SIRT6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SIRT6 were set to 29555651; 30135584\nPhenotypes for gene: SIRT6 were set to syndromic disease, MONDO:0002254, SIRT6-related\nReview for gene: SIRT6 was set to AMBER\nAdded comment: PMID:29555651 reported a family with four consecutive cases of late fetal loss at gestational ages between 17 and 35 weeks. The fetuses showed prenatal abnormalities including intrauterine growth restriction (IUGR), microcephaly, craniofacial anomalies, sex reversal in male fetuses, and congenital heart defects. A homozygous inactivating variant in SIRT6 gene (c.187G > C; p.(Asp63His)) was identified by WES in the four fetuses.\r\n\r\nThere is also functional data available from in vitro studies, SIRT6 D63H mouse embryonic stem cells and human induced pluripotent stem cells (iPSCs) derived from D63H homozygous foetuses. There is also functional evidence available from several other studies including PMID:30135584, where CRISPR-Cas9-based approach was used to generate a SIRT6-null cynomolgus monkey (Macaca fascicularis) model. SIRT6-deficient monkeys died hours after birth and exhibited severe prenatal developmental retardation. \nSources: Literature","entity_name":"SIRT6","entity_type":"gene"},{"created":"2025-05-01T18:05:52.664322+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2547","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SIRT6 were changed from perinatal disease MONDO:0100086 to syndromic disease, MONDO:0002254, SIRT6-related","entity_name":"SIRT6","entity_type":"gene"},{"created":"2025-05-01T18:05:34.765534+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2546","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SIRT6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: syndromic disease, MONDO:0002254, SIRT6-related; Mode of inheritance: None","entity_name":"SIRT6","entity_type":"gene"},{"created":"2025-05-01T18:03:01.990204+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2546","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LSM1 were changed from neurodevelopmental disorder MONDO:0700092, LSM1-related to Neurodevelopmental disorder, MONDO:0700092, LSM1-related","entity_name":"LSM1","entity_type":"gene"},{"created":"2025-05-01T18:02:44.991690+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2545","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LSM1 were set to 31010896","entity_name":"LSM1","entity_type":"gene"},{"created":"2025-05-01T18:02:29.936673+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2544","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LSM1 as Green List (high evidence)","entity_name":"LSM1","entity_type":"gene"},{"created":"2025-05-01T18:02:29.930080+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2544","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lsm1 has been classified as Green List (High Evidence).","entity_name":"LSM1","entity_type":"gene"},{"created":"2025-05-01T18:02:14.548439+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2543","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LSM1: Added comment: LSM1 encodes a subunit of a complex composed of proteins LSM1-7 which is involved in mRNA stabilisation as well as degradation. Other proteins within the complex are yet to have a definitive disease association however LSM7 has been reported a candidate gene.\r\n\r\n3 papers detail 10 affected individuals from 6 families with either a homozygous recurrent splice variant (LSM1:c.231+4A>C) or a homozygous missense variant (LSM1:p.Asn40Tyr in only 1 family). Both very rare in gnomad v4 with 0 homozygotes.\r\n\r\nThe phenotype of the individuals encompassed severe intellectual disability/developmental delay, shared dysmorphic features (broad forehead, pointed chin, medially thickened arched eyebrows, hypertelorism, bulbous nasal tip), skeletal anomalies, cardiovascular (ASD/VSD/aortic valve) and genitourinary abnormalities (CAKUT/hypospadias), gastrointestinal manifestations, hypotonia and visual impairments.\r\n\r\nRT PCR of the splice variant demonstrated exon 3 skipping with a resultant truncated protein with presumed loss of function mechanism. It was noted by authors there are no biallelic loss of function variant in the gnomad v4, as such it was suggested complete loss of function is non viable. Variants outside of exon 3 have not yet been reported in affected individuals.; Changed rating: GREEN; Changed publications: 31010896, 36100156, 40204357; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, LSM1-related","entity_name":"LSM1","entity_type":"gene"},{"created":"2025-05-01T18:00:33.991888+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.131","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LSM1 were changed from no OMIM number yet to Neurodevelopmental disorder, MONDO:0700092, LSM1-related","entity_name":"LSM1","entity_type":"gene"},{"created":"2025-05-01T18:00:12.281711+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.130","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LSM1 were set to PMID: 31010896","entity_name":"LSM1","entity_type":"gene"},{"created":"2025-05-01T17:58:52.075273+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.129","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LSM1 as Green List (high evidence)","entity_name":"LSM1","entity_type":"gene"},{"created":"2025-05-01T17:58:52.063749+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lsm1 has been classified as Green List (High Evidence).","entity_name":"LSM1","entity_type":"gene"},{"created":"2025-05-01T17:57:43.521110+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.148","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNU2-2P were changed from Neurodevelopmental disorder, MONDO:0700092, RNU2-2P-related to Neurodevelopmental disorder, MONDO:0700092, RNU2-2-related","entity_name":"RNU2-2P","entity_type":"gene"},{"created":"2025-05-01T17:57:18.282707+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.147","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNU2-2P were set to https://www.medrxiv.org/content/10.1101/2024.09.03.24312863v1","entity_name":"RNU2-2P","entity_type":"gene"},{"created":"2025-05-01T17:56:27.800859+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.146","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: RNU2-2P.","entity_name":"RNU2-2P","entity_type":"gene"},{"created":"2025-05-01T17:56:10.658458+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2543","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNU2-2P were changed from Neurodevelopmental disorder, MONDO:0700092, RNU2-2P-related to Neurodevelopmental disorder, MONDO:0700092, RNU2-2-related","entity_name":"RNU2-2P","entity_type":"gene"},{"created":"2025-05-01T17:55:56.887794+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2542","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNU2-2P were set to https://www.medrxiv.org/content/10.1101/2024.09.03.24312863v1","entity_name":"RNU2-2P","entity_type":"gene"},{"created":"2025-05-01T17:55:40.627816+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2541","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: RNU2-2P.","entity_name":"RNU2-2P","entity_type":"gene"},{"created":"2025-05-01T17:55:22.869636+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.128","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNU2-2P were changed from Neurodevelopmental disorder, MONDO:0700092, RNU2-2P-related to Neurodevelopmental disorder, MONDO:0700092, RNU2-2-related","entity_name":"RNU2-2P","entity_type":"gene"},{"created":"2025-05-01T17:54:58.502372+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNU2-2P were set to https://www.medrxiv.org/content/10.1101/2024.09.03.24312863v1","entity_name":"RNU2-2P","entity_type":"gene"},{"created":"2025-05-01T17:54:33.602684+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.126","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: RNU2-2P.","entity_name":"RNU2-2P","entity_type":"gene"},{"created":"2025-05-01T14:48:41.929638+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.126","user_name":"Sarah Milton","item_type":"entity","text":"changed review comment from: Note current HGNC accepted gene name RNU2-2\r\nUpstream of WDR74, as such variants may be incorrectly annotated as 5' WDR74\r\nPreviously referred to as RNU2-2P\r\nEncodes part of minor spliceosome (RNA) - non protein coding gene. \r\n\r\nTotal of 25 affected individuals with 16 described in PMID: 40210679 to have a neurodevelopmental disorder including intellectual disability (mod to severe), dysmorphism, global developmental delay, autistic behaviour, early onset drug resistant epilepsy, microcephaly, hyperventilation. Variants were de novo.\r\n\r\nRecurrent variants included n.4G>A and n.35A>G\r\n(should note another variant n.35A>T relatively common in population and said to be mosaic somatic by authors).; to: Note current HGNC accepted gene name RNU2-2\r\nPreviously referred to as RNU2-2P\r\nUpstream of WDR74, as such variants may be incorrectly annotated as 5' WDR74\r\nEncodes part of minor spliceosome (RNA) - non protein coding gene. \r\n\r\nTotal of 25 affected individuals with 16 described in PMID: 40210679 to have a neurodevelopmental disorder including intellectual disability (mod to severe), dysmorphism, global developmental delay, autistic behaviour, early onset drug resistant epilepsy, microcephaly, hyperventilation. Variants were de novo.\r\n\r\nRecurrent variants included n.4G>A and n.35A>G\r\n(should note another variant n.35A>T relatively common in population and said to be mosaic somatic by authors).","entity_name":"RNU2-2P","entity_type":"gene"},{"created":"2025-05-01T14:48:14.191695+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.126","user_name":"Sarah Milton","item_type":"entity","text":"reviewed gene: RNU2-2P: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40210679; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, RNU2-2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RNU2-2P","entity_type":"gene"},{"created":"2025-05-01T14:26:17.202422+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.568","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMA2 as ready","entity_name":"LAMA2","entity_type":"gene"},{"created":"2025-05-01T14:26:17.195748+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.568","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama2 has been classified as Green List (High Evidence).","entity_name":"LAMA2","entity_type":"gene"},{"created":"2025-05-01T14:26:14.462054+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.568","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital merosin-deficient, 607855 (3) to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138","entity_name":"LAMA2","entity_type":"gene"},{"created":"2025-05-01T14:26:03.297872+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.567","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMA2 were set to ","entity_name":"LAMA2","entity_type":"gene"},{"created":"2025-05-01T14:25:22.737914+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.566","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: L2HGDH as ready","entity_name":"L2HGDH","entity_type":"gene"},{"created":"2025-05-01T14:25:22.731101+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.566","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: l2hgdh has been classified as Green List (High Evidence).","entity_name":"L2HGDH","entity_type":"gene"},{"created":"2025-05-01T14:25:20.932253+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.566","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: L2HGDH were changed from L-2-hydroxyglutaric aciduria, 236792 (3) to L-2-hydroxyglutaric aciduria, MIM#236792","entity_name":"L2HGDH","entity_type":"gene"},{"created":"2025-05-01T14:25:12.376110+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.565","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: L2HGDH were set to ","entity_name":"L2HGDH","entity_type":"gene"},{"created":"2025-05-01T14:24:16.030344+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.564","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: L1CAM as ready","entity_name":"L1CAM","entity_type":"gene"},{"created":"2025-05-01T14:24:16.024091+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.564","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: l1cam has been classified as Green List (High Evidence).","entity_name":"L1CAM","entity_type":"gene"},{"created":"2025-05-01T14:24:13.793458+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.564","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: L1CAM were changed from MASA syndrome, 303350 (3) to MASA syndrome, MIM#303350; Hydrocephalus, congenital, X-linked, MIM#307000","entity_name":"L1CAM","entity_type":"gene"},{"created":"2025-05-01T14:24:06.062188+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.563","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: L1CAM were set to ","entity_name":"L1CAM","entity_type":"gene"},{"created":"2025-05-01T14:23:45.405370+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.562","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT14 as ready","entity_name":"KRT14","entity_type":"gene"},{"created":"2025-05-01T14:23:45.399560+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.562","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt14 has been classified as Green List (High Evidence).","entity_name":"KRT14","entity_type":"gene"},{"created":"2025-05-01T14:23:43.469500+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.562","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, recessive 1, 601001 (3) to Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001; MONDO:0010976","entity_name":"KRT14","entity_type":"gene"},{"created":"2025-05-01T14:23:35.259107+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.561","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRT14 were set to ","entity_name":"KRT14","entity_type":"gene"},{"created":"2025-05-01T14:23:13.226869+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.560","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF7 as ready","entity_name":"KIF7","entity_type":"gene"},{"created":"2025-05-01T14:23:13.216600+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.560","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif7 has been classified as Green List (High Evidence).","entity_name":"KIF7","entity_type":"gene"},{"created":"2025-05-01T14:23:08.176409+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.560","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF7 were changed from Hydrolethalus syndrome 2, 614120 (3) to Al-Gazali-Bakalinova syndrome MIM#607131; Hydrolethalus syndrome 2 MIM#614120; Acrocallosal syndrome MIM#200990; Joubert syndrome 12 MIM#200990","entity_name":"KIF7","entity_type":"gene"},{"created":"2025-05-01T14:22:15.894316+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.559","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIF7 were set to ","entity_name":"KIF7","entity_type":"gene"},{"created":"2025-05-01T14:21:57.179588+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.558","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF1A as ready","entity_name":"KIF1A","entity_type":"gene"},{"created":"2025-05-01T14:21:57.170259+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.558","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif1a has been classified as Green List (High Evidence).","entity_name":"KIF1A","entity_type":"gene"},{"created":"2025-05-01T14:21:54.969785+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.558","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive, 610357 (3) to Spastic paraplegia 30, autosomal recessive, MIM#610357","entity_name":"KIF1A","entity_type":"gene"},{"created":"2025-05-01T14:21:46.439208+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.557","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIF1A were set to ","entity_name":"KIF1A","entity_type":"gene"},{"created":"2025-05-01T14:12:30.480303+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT140 were set to 22503633; 23418020; 34890546","entity_name":"IFT140","entity_type":"gene"},{"created":"2025-05-01T14:12:14.640467+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; {Polycystic kidney disease 9, susceptibility to} MIM#621164 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Cranioectodermal dysplasia 5, MIM# 621180; {Polycystic kidney disease 9, susceptibility to} MIM#621164","entity_name":"IFT140","entity_type":"gene"},{"created":"2025-05-01T14:11:42.809611+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.27","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT140: Added comment: Four unrelated families reported with biallelic variants and a cranioectrodermal dysplasia phenotype, part of the ciliopathy spectrum. All individuals had a recurrent tandem duplication spanning exons 27 to 30 in trans with other variants. Renal disease including renal failure was a prominent part of the phenotype.; Changed publications: 22503633, 23418020, 34890546, 37628605; Changed phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, MONDO:0009964, Cranioectodermal dysplasia 5, MIM# 621180, {Polycystic kidney disease 9, susceptibility to} MIM#621164","entity_name":"IFT140","entity_type":"gene"},{"created":"2025-05-01T14:10:08.823714+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Four unrelated families reported with biallelic variants and a cranioectrodermal dysplasia phenotype, part of the ciliopathy spectrum.; to: Four unrelated families reported with biallelic variants and a cranioectrodermal dysplasia phenotype, part of the ciliopathy spectrum. All individuals had a recurrent tandem duplication spanning exons 27 to 30 in trans with other variants.","entity_name":"IFT140","entity_type":"gene"},{"created":"2025-05-01T13:46:34.057312+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2541","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRF2 as ready","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:46:34.051489+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2541","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brf2 has been classified as Green List (High Evidence).","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:46:13.217010+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2541","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BRF2 as Green List (high evidence)","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:46:13.168801+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2541","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brf2 has been classified as Green List (High Evidence).","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:46:00.409122+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2540","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BRF2 was added\ngene: BRF2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BRF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRF2 were set to 40229899\nPhenotypes for gene: BRF2 were set to Syndromic disease, MONDO:0002254, BRF2-related\nReview for gene: BRF2 was set to GREEN\nAdded comment: 7 individuals from 3 unrelated families reported. In addition, 3 Icelanding families with same recurrent splicing variant and recurrent perinatal deaths; however, affected individuals unable to be genotyped and this seems to be a founder variant. Craniofacial malformations, microcephaly and perinatal death in several individuals. Survivors had ID. Supportive functional data, including animal model. \nSources: Literature","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:44:38.512592+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.326","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRF2 as ready","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:44:38.506458+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.326","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brf2 has been classified as Green List (High Evidence).","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:43:24.989785+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.326","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BRF2 as Green List (high evidence)","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:43:24.982632+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.326","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brf2 has been classified as Green List (High Evidence).","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:43:13.370656+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.325","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BRF2 was added\ngene: BRF2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: BRF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRF2 were set to 40229899\nPhenotypes for gene: BRF2 were set to Syndromic disease, MONDO:0002254, BRF2-related\nReview for gene: BRF2 was set to GREEN\nAdded comment: 7 individuals from 3 unrelated families reported. In addition, 3 Icelanding families with same recurrent splicing variant and recurrent perinatal deaths; however, affected individuals unable to be genotyped and this seems to be a founder variant. Craniofacial malformations, microcephaly and perinatal death in several individuals. Survivors had ID. Supportive functional data, including animal model. \nSources: Literature","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:42:09.562816+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.307","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRF2 as ready","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:42:09.556518+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.307","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brf2 has been classified as Green List (High Evidence).","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:42:06.323485+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.307","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BRF2 as Green List (high evidence)","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:42:06.316384+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.307","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brf2 has been classified as Green List (High Evidence).","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:41:46.267261+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.306","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BRF2 was added\ngene: BRF2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: BRF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRF2 were set to 40229899\nPhenotypes for gene: BRF2 were set to Syndromic disease, MONDO:0002254, BRF2-related\nReview for gene: BRF2 was set to GREEN\nAdded comment: 7 individuals from 3 unrelated families reported. In addition, 3 Icelanding families with same recurrent splicing variant and recurrent perinatal deaths; however, affected individuals unable to be genotyped and this seems to be a founder variant. Craniofacial malformations, microcephaly and perinatal death in several individuals. Survivors had ID. Supportive functional data, including animal model. \nSources: Literature","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:40:30.182679+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRF2 as ready","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:40:30.176153+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brf2 has been classified as Green List (High Evidence).","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:40:25.944113+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.126","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BRF2 as Green List (high evidence)","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:40:25.937409+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brf2 has been classified as Green List (High Evidence).","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:40:03.661446+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.125","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BRF2 was added\ngene: BRF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: BRF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRF2 were set to 40229899\nPhenotypes for gene: BRF2 were set to Syndromic disease, MONDO:0002254, BRF2-related\nReview for gene: BRF2 was set to GREEN\nAdded comment: 7 individuals from 3 unrelated families reported. In addition, 3 Icelanding families with same recurrent splicing variant and recurrent perinatal deaths; however, affected individuals unable to be genotyped and this seems to be a founder variant.\r\n\r\nCraniofacial malformations, microcephaly and perinatal death in several individuals. Survivors had ID.\r\n\r\nSupportive functional data, including animal model. \nSources: Literature","entity_name":"BRF2","entity_type":"gene"},{"created":"2025-05-01T13:32:25.444037+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2539","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP2A2 were changed from Acrokeratosis verruciformis MIM#101900; Darier disease MIM#124200 to Acrokeratosis verruciformis MIM#101900; Darier disease MIM#124200; Congenital myopathy, MONDO:0019952, ATP2A2-related; rhabdomyolysis","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2025-05-01T13:32:09.463292+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2538","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP2A2 were set to PMID: 24336169","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2025-05-01T13:31:52.325888+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2537","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP2A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 39970126; Phenotypes: Congenital myopathy, MONDO:0019952, ATP2A2-related, rhabdomyolysis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2025-05-01T13:31:07.279788+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2537","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: MYO1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYO1A","entity_type":"gene"},{"created":"2025-05-01T13:30:52.099337+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2536","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MYO1A as Amber List (moderate evidence)","entity_name":"MYO1A","entity_type":"gene"},{"created":"2025-05-01T13:30:52.093093+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2536","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: myo1a has been classified as Amber List (Moderate Evidence).","entity_name":"MYO1A","entity_type":"gene"},{"created":"2025-05-01T13:29:51.980491+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP2A2 were changed from Congenital myopathy, MONDO:0019952, ATP2A2-related; rhabdomyolysis to Congenital myopathy, MONDO:0019952, ATP2A2-related; rhabdomyolysis","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2025-05-01T13:29:49.752066+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP2A2 as ready","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2025-05-01T13:29:49.741753+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp2a2 has been classified as Amber List (Moderate Evidence).","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2025-05-01T13:29:45.880410+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP2A2 were changed from Congenital myopathy, MONDO:0019952, ATP2A2-related to Congenital myopathy, MONDO:0019952, ATP2A2-related; rhabdomyolysis","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2025-05-01T13:29:32.296706+10:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"1.19","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MYO1A as ready","entity_name":"MYO1A","entity_type":"gene"},{"created":"2025-05-01T13:29:32.290445+10:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"1.19","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: myo1a has been classified as Amber List (Moderate Evidence).","entity_name":"MYO1A","entity_type":"gene"}]}