{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=147","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=145","results":[{"created":"2025-10-17T13:25:31.565361+11:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdia6 has been classified as Green List (High Evidence).","entity_name":"PDIA6","entity_type":"gene"},{"created":"2025-10-17T13:24:59.306747+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDIA6 were changed from Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes to multiple congenital anomalies, MONDO:0019042, PDIA6-related","entity_name":"PDIA6","entity_type":"gene"},{"created":"2025-10-17T13:24:21.181865+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.90","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDIA6 were set to 33495992","entity_name":"PDIA6","entity_type":"gene"},{"created":"2025-10-17T13:23:50.775766+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.89","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDIA6 as Green List (high evidence)","entity_name":"PDIA6","entity_type":"gene"},{"created":"2025-10-17T13:23:50.765488+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.89","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdia6 has been classified as Green List (High Evidence).","entity_name":"PDIA6","entity_type":"gene"},{"created":"2025-10-17T13:23:13.992927+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3432","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDIA6 were changed from Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes to multiple congenital anomalies, MONDO:0019042, PDIA6-related","entity_name":"PDIA6","entity_type":"gene"},{"created":"2025-10-17T13:22:56.996699+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3431","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDIA6 were set to ","entity_name":"PDIA6","entity_type":"gene"},{"created":"2025-10-17T13:22:30.373803+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3430","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDIA6 as Green List (high evidence)","entity_name":"PDIA6","entity_type":"gene"},{"created":"2025-10-17T13:22:30.366720+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3430","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdia6 has been classified as Green List (High Evidence).","entity_name":"PDIA6","entity_type":"gene"},{"created":"2025-10-17T13:21:40.439029+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MIA3 as ready","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:21:40.431972+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mia3 has been classified as Green List (High Evidence).","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:21:37.109246+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MIA3 as Green List (high evidence)","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:21:37.099179+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mia3 has been classified as Green List (High Evidence).","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:21:29.550684+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MIA3 was added\ngene: MIA3 was added to Monogenic Diabetes. Sources: Literature\nMode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MIA3 were set to 32101163; 33778321; 40948380; 40119123\nPhenotypes for gene: MIA3 were set to Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269\nReview for gene: MIA3 was set to GREEN\nAdded comment: Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability. Three unrelated families reported, including four affected siblings. Mouse model has absence of bone mineralization. \nSources: Literature","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:20:50.817838+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.236","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MIA3 as Green List (high evidence)","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:20:50.807784+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.236","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mia3 has been classified as Green List (High Evidence).","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:20:50.748564+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.235","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MIA3 as ready","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:20:50.737858+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.235","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mia3 has been classified as Red List (Low Evidence).","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:20:06.484561+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.235","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MIA3 was added\ngene: MIA3 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MIA3 were set to 32101163; 33778321; 40948380; 40119123\nPhenotypes for gene: MIA3 were set to Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269\nReview for gene: MIA3 was set to GREEN\nAdded comment: Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability. Three unrelated families reported, including four affected siblings. Mouse model has absence of bone mineralization. \nSources: Literature","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:18:10.446531+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.448","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MIA3 were set to PMID: 32101163; 33778321","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:17:57.362999+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.447","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MIA3 as Green List (high evidence)","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:17:57.351458+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.447","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mia3 has been classified as Green List (High Evidence).","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:17:48.256073+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.446","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MIA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 40948380, 40119123; Phenotypes: Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:17:09.684847+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MIA3 were set to 32101163; 33778321; 40948380; 40119123","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:16:57.234659+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MIA3 were set to 32101163; 33778321","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:16:27.502966+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.340","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MIA3 as Green List (high evidence)","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:16:27.492695+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.340","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mia3 has been classified as Green List (High Evidence).","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:16:07.456228+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MIA3: Changed rating: GREEN","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:16:01.328566+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MIA3: Added comment: Upgrade to Green Two additional unrelated individuals from consanguineous families with biallelic variants. Affected individuals presented with short stature, metaphyseal dysplasia, dentinogenesis imperfecta, dental anomalies, and hearing loss.; Changed publications: 32101163, 33778321, 40948380, 40119123","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:15:08.764925+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3429","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MIA3 were set to 32101163; 33778321","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:14:51.581245+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3428","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MIA3 as Green List (high evidence)","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:14:51.567011+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3428","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mia3 has been classified as Green List (High Evidence).","entity_name":"MIA3","entity_type":"gene"},{"created":"2025-10-17T13:13:23.609215+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CASP8 as ready","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T13:13:23.602324+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casp8 has been classified as Green List (High Evidence).","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T13:13:17.906735+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CASP8 as Green List (high evidence)","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T13:13:17.896234+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casp8 has been classified as Green List (High Evidence).","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T13:13:05.375488+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CASP8 was added\ngene: CASP8 was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: CASP8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CASP8 were set to 41026346\nPhenotypes for gene: CASP8 were set to Autoimmune lymphoproliferative syndrome, type IIB MIM#607271\nReview for gene: CASP8 was set to GREEN\nAdded comment: 7 individuals from 5 families reported with ALPS. All had the same homozygous missense variant, p.Arg265Trp. Some known to be distantly related. CIDP was a common manifestation.\r\n\r\nGREEN but any variants apart from the founder variant should be treated with caution. \nSources: Literature","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T13:11:17.882333+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IKZF1 as ready","entity_name":"IKZF1","entity_type":"gene"},{"created":"2025-10-17T13:11:17.853103+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikzf1 has been classified as Green List (High Evidence).","entity_name":"IKZF1","entity_type":"gene"},{"created":"2025-10-17T13:11:11.047362+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IKZF1 as Green List (high evidence)","entity_name":"IKZF1","entity_type":"gene"},{"created":"2025-10-17T13:11:11.040299+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikzf1 has been classified as Green List (High Evidence).","entity_name":"IKZF1","entity_type":"gene"},{"created":"2025-10-17T13:10:54.311668+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CASP8 were set to 12353035; 25814141; 12654726; 17213198; 16148088","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T13:10:44.087225+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CASP8 as Green List (high evidence)","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T13:10:44.075734+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casp8 has been classified as Green List (High Evidence).","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T13:10:34.726318+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Additional individual reported, bring up total to 7 individuals from 5 families. All had the same homozygous missense variant, p.Arg265Trp. Some known to be distantly related. CIDP was a common manifestation. GREEN but any variants apart from the founder variant should be treated with caution.; to: Additional individual reported, bring up total to 7 individuals from 5 families. All had the same homozygous missense variant, p.Arg265Trp. Some known to be distantly related. CIDP was a common manifestation.\r\n\r\nGREEN but any variants apart from the founder variant should be treated with caution.","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T13:10:24.603713+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CASP8: Rating: GREEN; Mode of pathogenicity: None; Publications: 41026346; Phenotypes: Autoimmune lymphoproliferative syndrome, type IIB MIM#607271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T13:09:37.318916+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CASP8 were set to 12353035; 25814141; 12654726; 17213198; 16148088","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T13:09:09.250888+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CASP8 as Green List (high evidence)","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T13:09:09.239780+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casp8 has been classified as Green List (High Evidence).","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T13:08:47.337908+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: CASP8.","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T13:08:38.800793+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CASP8: Added comment: Additional individual reported, bring up total to 7 individuals from 5 families. All had the same homozygous missense variant, p.Arg265Trp. Some known to be distantly related. CIDP was a common manifestation.\r\n\r\nGREEN but any variants apart from the founder variant should be treated with caution.; Changed rating: GREEN; Changed publications: 12353035, 25814141, 12654726, 17213198, 16148088, 41026346","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T13:07:40.629875+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3427","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CASP8 were set to 12353035; 25814141; 12654726; 17213198; 16148088","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T13:07:23.684621+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3426","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CASP8 as Green List (high evidence)","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T13:07:23.673635+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3426","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casp8 has been classified as Green List (High Evidence).","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T13:07:10.421113+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3425","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: CASP8.","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T13:06:59.172227+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3425","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CASP8: Added comment: Additional individual reported, bring up total to 7 individuals from 5 families. All had the same homozygous missense variant, p.Arg265Trp. Some known to be distantly related. CIDP was a common manifestation.\r\n\r\nGREEN but any variants apart from the founder variant should be treated with caution.; Changed rating: GREEN; Changed publications: 41026346; Changed phenotypes: Autoimmune lymphoproliferative syndrome, type IIB MIM#607271; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CASP8","entity_type":"gene"},{"created":"2025-10-17T12:43:47.281896+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3425","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTBP1 were changed from  to Neurodevelopmental disorder (MONDO:0700092), PTBP1-related","entity_name":"PTBP1","entity_type":"gene"},{"created":"2025-10-17T12:43:30.238128+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3424","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTBP1 were set to ","entity_name":"PTBP1","entity_type":"gene"},{"created":"2025-10-17T12:43:13.371812+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3423","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PTBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PTBP1","entity_type":"gene"},{"created":"2025-10-17T12:42:57.624908+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3422","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTBP1 as Green List (high evidence)","entity_name":"PTBP1","entity_type":"gene"},{"created":"2025-10-17T12:42:57.617446+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3422","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptbp1 has been classified as Green List (High Evidence).","entity_name":"PTBP1","entity_type":"gene"},{"created":"2025-10-17T12:42:37.404145+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.446","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTBP1 as ready","entity_name":"PTBP1","entity_type":"gene"},{"created":"2025-10-17T12:42:37.395854+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.446","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptbp1 has been classified as Green List (High Evidence).","entity_name":"PTBP1","entity_type":"gene"},{"created":"2025-10-17T12:42:32.994932+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.446","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTBP1 as Green List (high evidence)","entity_name":"PTBP1","entity_type":"gene"},{"created":"2025-10-17T12:42:32.986709+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.446","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptbp1 has been classified as Green List (High Evidence).","entity_name":"PTBP1","entity_type":"gene"},{"created":"2025-10-17T12:42:17.285594+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTBP1 as ready","entity_name":"PTBP1","entity_type":"gene"},{"created":"2025-10-17T12:42:17.277858+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptbp1 has been classified as Green List (High Evidence).","entity_name":"PTBP1","entity_type":"gene"},{"created":"2025-10-17T12:42:13.593333+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTBP1 as Green List (high evidence)","entity_name":"PTBP1","entity_type":"gene"},{"created":"2025-10-17T12:42:13.583054+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptbp1 has been classified as Green List (High Evidence).","entity_name":"PTBP1","entity_type":"gene"},{"created":"2025-10-17T12:41:48.583317+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.372","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTBP1 as ready","entity_name":"PTBP1","entity_type":"gene"},{"created":"2025-10-17T12:41:48.576493+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.372","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptbp1 has been classified as Green List (High Evidence).","entity_name":"PTBP1","entity_type":"gene"},{"created":"2025-10-17T12:41:43.392992+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.372","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTBP1 as Green List (high evidence)","entity_name":"PTBP1","entity_type":"gene"},{"created":"2025-10-17T12:41:43.374906+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.372","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptbp1 has been classified as Green List (High Evidence).","entity_name":"PTBP1","entity_type":"gene"},{"created":"2025-10-17T12:40:49.814774+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.108","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNB1 as ready","entity_name":"CACNB1","entity_type":"gene"},{"created":"2025-10-17T12:40:49.803579+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacnb1 has been classified as Amber List (Moderate Evidence).","entity_name":"CACNB1","entity_type":"gene"},{"created":"2025-10-17T12:40:34.127914+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.108","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CACNB1 as Amber List (moderate evidence)","entity_name":"CACNB1","entity_type":"gene"},{"created":"2025-10-17T12:40:34.120625+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacnb1 has been classified as Amber List (Moderate Evidence).","entity_name":"CACNB1","entity_type":"gene"},{"created":"2025-10-17T12:40:11.406834+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.107","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CACNB1 was added\ngene: CACNB1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: CACNB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CACNB1 were set to 41023410\nPhenotypes for gene: CACNB1 were set to Congenital muscular dystrophy MONDO:0020121, CACNB1-related\nReview for gene: CACNB1 was set to AMBER\nAdded comment: PMID: 41023410 - Different phenotype - congenital muscular dystrophy. Only two consanguineous families have been reported with variants in this gene.\r\n\r\n3 individuals from two unrelated consanguineous families present with myopathy, elevated CK levels and low body weight\r\nTwo biallelic rare variants were identified in CACNB1 - c.124_133del; p.(Asp42Argfs*37 and c.85-1G>A)\r\nRNA assay was conducted on isolated RNA showed the generation of a PTC leading to a truncated protein. \nSources: Literature","entity_name":"CACNB1","entity_type":"gene"},{"created":"2025-10-17T12:37:17.059655+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3421","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNB1 were changed from Malignant hyperthermia susceptibility, MONDO:0800188, CACNB1-related to Congenital muscular dystrophy MONDO:0020121; Malignant hyperthermia susceptibility, MONDO:0800188, CACNB1-related","entity_name":"CACNB1","entity_type":"gene"},{"created":"2025-10-17T12:36:58.633972+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3420","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CACNB1 were set to 27832566; 8943043; 29212769","entity_name":"CACNB1","entity_type":"gene"},{"created":"2025-10-17T12:36:41.160748+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3419","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CACNB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CACNB1","entity_type":"gene"},{"created":"2025-10-17T12:36:25.940375+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3418","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CACNB1 as Amber List (moderate evidence)","entity_name":"CACNB1","entity_type":"gene"},{"created":"2025-10-17T12:36:25.928951+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3418","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacnb1 has been classified as Amber List (Moderate Evidence).","entity_name":"CACNB1","entity_type":"gene"},{"created":"2025-10-17T12:35:20.189241+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.470","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZDHHC18 as ready","entity_name":"ZDHHC18","entity_type":"gene"},{"created":"2025-10-17T12:35:20.181780+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.470","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zdhhc18 has been classified as Amber List (Moderate Evidence).","entity_name":"ZDHHC18","entity_type":"gene"},{"created":"2025-10-17T12:34:57.742973+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3417","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZDHHC18 as ready","entity_name":"ZDHHC18","entity_type":"gene"},{"created":"2025-10-17T12:34:57.728811+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3417","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zdhhc18 has been classified as Amber List (Moderate Evidence).","entity_name":"ZDHHC18","entity_type":"gene"},{"created":"2025-10-17T12:24:24.121408+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3417","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SWSAP1 as ready","entity_name":"SWSAP1","entity_type":"gene"},{"created":"2025-10-17T12:24:24.114500+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3417","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: swsap1 has been classified as Red List (Low Evidence).","entity_name":"SWSAP1","entity_type":"gene"},{"created":"2025-10-17T12:23:44.704513+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3417","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SWSAP1 as Red List (low evidence)","entity_name":"SWSAP1","entity_type":"gene"},{"created":"2025-10-17T12:23:44.694076+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3417","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: swsap1 has been classified as Red List (Low Evidence).","entity_name":"SWSAP1","entity_type":"gene"},{"created":"2025-10-17T12:23:27.769420+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.362","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SWSAP1 as ready","entity_name":"SWSAP1","entity_type":"gene"},{"created":"2025-10-17T12:23:27.758217+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.362","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: swsap1 has been classified as Red List (Low Evidence).","entity_name":"SWSAP1","entity_type":"gene"},{"created":"2025-10-17T12:23:21.539403+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.362","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SWSAP1 as Red List (low evidence)","entity_name":"SWSAP1","entity_type":"gene"},{"created":"2025-10-17T12:23:21.529428+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.362","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: swsap1 has been classified as Red List (Low Evidence).","entity_name":"SWSAP1","entity_type":"gene"},{"created":"2025-10-17T12:17:22.806805+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.445","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAP as ready","entity_name":"FAP","entity_type":"gene"},{"created":"2025-10-17T12:17:22.800017+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.445","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fap has been classified as Red List (Low Evidence).","entity_name":"FAP","entity_type":"gene"},{"created":"2025-10-17T12:16:58.957536+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.445","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAP was added\ngene: FAP was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: FAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FAP were set to 40949908\nPhenotypes for gene: FAP were set to congenital pulmonary airway malformation MONDO:0016580\nReview for gene: FAP was set to RED\nAdded comment: Only 1 reported fetus with a diagnosis of congenital pulmonary airway malformation Heterozygous variant identified - c.T269G:p.L90W. The variant is present in gnomAD v4.1 - EAS AF - 0.007% (4 hets) \nSources: Literature","entity_name":"FAP","entity_type":"gene"},{"created":"2025-10-17T12:14:06.998908+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3416","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAP as ready","entity_name":"FAP","entity_type":"gene"},{"created":"2025-10-17T12:14:06.991276+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3416","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fap has been classified as Red List (Low Evidence).","entity_name":"FAP","entity_type":"gene"}]}