{"count":220212,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=9","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=7","results":[{"created":"2026-03-26T20:56:29.933554+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.63","user_name":"Rylee Peters","item_type":"entity","text":"Classified gene: OPN1MW as Green List (high evidence)","entity_name":"OPN1MW","entity_type":"gene"},{"created":"2026-03-26T20:56:29.922824+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.63","user_name":"Rylee Peters","item_type":"entity","text":"Gene: opn1mw has been classified as Green List (High Evidence).","entity_name":"OPN1MW","entity_type":"gene"},{"created":"2026-03-26T20:55:54.992367+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.62","user_name":"Rylee Peters","item_type":"panel","text":"Added reviews for gene OPN1MW from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T20:55:21.337214+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4643","user_name":"Rylee Peters","item_type":"entity","text":"Classified gene: OPN1MW as Green List (high evidence)","entity_name":"OPN1MW","entity_type":"gene"},{"created":"2026-03-26T20:55:21.326912+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4643","user_name":"Rylee Peters","item_type":"entity","text":"Gene: opn1mw has been classified as Green List (High Evidence).","entity_name":"OPN1MW","entity_type":"gene"},{"created":"2026-03-26T20:55:03.248806+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4642","user_name":"Rylee Peters","item_type":"entity","text":"changed review comment from: Green rating for Colorblindness, deutan, MIM#303800\r\n\r\nOPN1MW is Definitively associated with OPN1MW-related cone dysfunction - classification was approved by the ClinGen Retina Gene Curation Expert Panel on September 4th, 2025. \r\n\r\nOPN1LW is definitively associated with OPN1LW-related cone dysfunction - classification was approved by the ClinGen Retina Gene Curation Expert Panel on September 4th, 2025.\r\n\r\n\"Per criteria outlined by the ClinGen Lumping & Splitting Working Group, diverse cases were compared and found to share an X-linked mode of inheritance and a degree of overlap in their phenotypes, but to differ in the mechanism of pathogenicity underlying deutan color blindness (monogenic OPN1MW loss-of-function) versus blue cone monochromacy (digenic OPN1MW and OPN1LW loss-of-function).\"; to: Green rating for Colorblindness, deutan, MIM#303800\r\n\r\nOPN1MW is Definitively associated with OPN1MW-related cone dysfunction - classification was approved by the ClinGen Retina Gene Curation Expert Panel on September 4th, 2025. \r\n\r\n\"Per criteria outlined by the ClinGen Lumping & Splitting Working Group, diverse cases were compared and found to share an X-linked mode of inheritance and a degree of overlap in their phenotypes, but to differ in the mechanism of pathogenicity underlying deutan color blindness (monogenic OPN1MW loss-of-function) versus blue cone monochromacy (digenic OPN1MW and OPN1LW loss-of-function).\"","entity_name":"OPN1MW","entity_type":"gene"},{"created":"2026-03-26T20:54:51.540958+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4642","user_name":"Rylee Peters","item_type":"entity","text":"reviewed gene: OPN1MW: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorblindness, deutan, MIM#303800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OPN1MW","entity_type":"gene"},{"created":"2026-03-26T20:50:02.188670+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.61","user_name":"Rylee Peters","item_type":"entity","text":"Classified gene: OPN1LW as Green List (high evidence)","entity_name":"OPN1LW","entity_type":"gene"},{"created":"2026-03-26T20:50:02.178141+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.61","user_name":"Rylee Peters","item_type":"entity","text":"Gene: opn1lw has been classified as Green List (High Evidence).","entity_name":"OPN1LW","entity_type":"gene"},{"created":"2026-03-26T20:49:26.153768+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.60","user_name":"Rylee Peters","item_type":"panel","text":"Added reviews for gene OPN1LW from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T20:48:25.022161+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4642","user_name":"Rylee Peters","item_type":"entity","text":"Classified gene: OPN1LW as Green List (high evidence)","entity_name":"OPN1LW","entity_type":"gene"},{"created":"2026-03-26T20:48:24.986060+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4642","user_name":"Rylee Peters","item_type":"entity","text":"Gene: opn1lw has been classified as Green List (High Evidence).","entity_name":"OPN1LW","entity_type":"gene"},{"created":"2026-03-26T20:47:56.903242+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4641","user_name":"Rylee Peters","item_type":"entity","text":"reviewed gene: OPN1LW: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorblindness, protan, MIM#303900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OPN1LW","entity_type":"gene"},{"created":"2026-03-26T19:33:04.664423+11:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"1.26","user_name":"Rylee Peters","item_type":"panel","text":"Added reviews for gene NRG1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T19:32:34.308703+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4641","user_name":"Rylee Peters","item_type":"entity","text":"Mode of inheritance for gene: NRG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NRG1","entity_type":"gene"},{"created":"2026-03-26T19:31:54.199701+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4640","user_name":"Rylee Peters","item_type":"entity","text":"Phenotypes for gene: NRG1 were changed from Hirschsprung disease, MONDO:0018309; Peripheral neuropathy MONDO:0005244 to Hirschsprung disease, susceptibility (MONDO:0100179), NRG1-related; Peripheral neuropathy MONDO:0005244","entity_name":"NRG1","entity_type":"gene"},{"created":"2026-03-26T19:31:21.947777+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4639","user_name":"Rylee Peters","item_type":"entity","text":"Publications for gene: NRG1 were set to 22574178; 21706185; 28190554","entity_name":"NRG1","entity_type":"gene"},{"created":"2026-03-26T19:30:26.034723+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4638","user_name":"Rylee Peters","item_type":"entity","text":"reviewed gene: NRG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33421311, 31240788; Phenotypes: Hirschsprung disease, susceptibility (MONDO:0100179), NRG1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NRG1","entity_type":"gene"},{"created":"2026-03-26T18:50:13.922327+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.393","user_name":"Rylee Peters","item_type":"panel","text":"Added reviews for gene NECAP1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T18:47:58.617816+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4638","user_name":"Rylee Peters","item_type":"entity","text":"reviewed gene: NECAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35638367; Phenotypes: Developmental and epileptic encephalopathy 21, MIM#615833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NECAP1","entity_type":"gene"},{"created":"2026-03-26T17:27:08.005924+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.548","user_name":"Rylee Peters","item_type":"panel","text":"Added reviews for gene MMP15 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T17:27:04.690723+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"1.10","user_name":"Rylee Peters","item_type":"panel","text":"Added reviews for gene MMP15 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T17:25:30.785792+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4638","user_name":"Rylee Peters","item_type":"entity","text":"Publications for gene: MMP15 were set to 33875846","entity_name":"MMP15","entity_type":"gene"},{"created":"2026-03-26T17:25:13.273851+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4637","user_name":"Rylee Peters","item_type":"entity","text":"reviewed gene: MMP15: Rating: AMBER; Mode of pathogenicity: None; Publications: 36349822; Phenotypes: Progressive familial intrahepatic cholestasis, MONDO:0015762, MMP15-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MMP15","entity_type":"gene"},{"created":"2026-03-26T16:46:48.142820+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4637","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: PADI6 were set to 29693651; 33583041; 329228291; 33221824; 27545678","entity_name":"PADI6","entity_type":"gene"},{"created":"2026-03-26T16:42:05.190486+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4636","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: NLRP5 were set to 32232222962; 31829238; 30877238; 26323243; 34440388","entity_name":"NLRP5","entity_type":"gene"},{"created":"2026-03-26T16:40:05.536344+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4635","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: AMELX were set to 17189466; 22243263; 7599636; 23251683; 1483698 1916828; 9188994; 15111628; 11201048; 26502894; 7782077; 11922869; 28130977; 8406474; 11839357; 25117480; 19610109","entity_name":"AMELX","entity_type":"gene"},{"created":"2026-03-26T16:27:30.566295+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4634","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: ZBTB26 as ready","entity_name":"ZBTB26","entity_type":"gene"},{"created":"2026-03-26T16:27:30.555593+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4634","user_name":"Chirag Patel","item_type":"entity","text":"Gene: zbtb26 has been classified as Green List (High Evidence).","entity_name":"ZBTB26","entity_type":"gene"},{"created":"2026-03-26T16:26:53.652180+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4634","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene ZBTB26 from panel Congenital hypothyroidism","entity_name":null,"entity_type":null},{"created":"2026-03-26T16:26:52.444171+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4634","user_name":"Chirag Patel","item_type":"entity","text":"gene: ZBTB26 was added\ngene: ZBTB26 was added to Mendeliome. Sources: Expert Review Green,Literature\nMode of inheritance for gene: ZBTB26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZBTB26 were set to 34946811\nPhenotypes for gene: ZBTB26 were set to Congenital hypothyroidism MONDO:0018612","entity_name":"ZBTB26","entity_type":"gene"},{"created":"2026-03-26T16:26:33.612203+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.117","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: ZBTB26 as ready","entity_name":"ZBTB26","entity_type":"gene"},{"created":"2026-03-26T16:26:33.604862+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.117","user_name":"Chirag Patel","item_type":"entity","text":"Gene: zbtb26 has been classified as Green List (High Evidence).","entity_name":"ZBTB26","entity_type":"gene"},{"created":"2026-03-26T16:26:31.071682+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.117","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ZBTB26 as Green List (high evidence)","entity_name":"ZBTB26","entity_type":"gene"},{"created":"2026-03-26T16:26:31.061440+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.117","user_name":"Chirag Patel","item_type":"entity","text":"Gene: zbtb26 has been classified as Green List (High Evidence).","entity_name":"ZBTB26","entity_type":"gene"},{"created":"2026-03-26T16:26:24.988975+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.116","user_name":"Chirag Patel","item_type":"entity","text":"gene: ZBTB26 was added\ngene: ZBTB26 was added to Congenital hypothyroidism. Sources: Literature\nMode of inheritance for gene: ZBTB26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZBTB26 were set to 34946811\nPhenotypes for gene: ZBTB26 were set to Congenital hypothyroidism MONDO:0018612\nReview for gene: ZBTB26 was set to GREEN\nAdded comment: PMID 34946811 reports 3 individuals from 3 unrelated families with heterozygous ZBTB26 variants (2 x missense and 1 x splice‑proximal) presenting with congenital primary hypothyroidism. De novo status confirmed for 1 patient but parental status unavailable for 2 patients. Xenopus loss‑of‑function studies recapitulated the phenotype and were rescued by wild‑type mRNA, supporting a loss‑of‑function mechanism. \nSources: Literature","entity_name":"ZBTB26","entity_type":"gene"},{"created":"2026-03-26T16:22:09.461843+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.115","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: UBR7 as ready","entity_name":"UBR7","entity_type":"gene"},{"created":"2026-03-26T16:22:09.449766+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.115","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ubr7 has been classified as Green List (High Evidence).","entity_name":"UBR7","entity_type":"gene"},{"created":"2026-03-26T16:21:54.891206+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.115","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene UBR7 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T16:21:54.819657+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.115","user_name":"Chirag Patel","item_type":"entity","text":"gene: UBR7 was added\ngene: UBR7 was added to Congenital hypothyroidism. Sources: Expert Review Green,Literature\nMode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBR7 were set to 33340455\nPhenotypes for gene: UBR7 were set to Li-Campeau syndrome, MIM# 619189; Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features","entity_name":"UBR7","entity_type":"gene"},{"created":"2026-03-26T16:09:42.980000+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.392","user_name":"Rylee Peters","item_type":"entity","text":"Publications for gene: MICAL1 were set to 29394500; 21638339; 38705457","entity_name":"MICAL1","entity_type":"gene"},{"created":"2026-03-26T16:09:26.371963+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.391","user_name":"Rylee Peters","item_type":"entity","text":"Publications for gene: MICAL1 were set to 29394500; 21638339; 38705457","entity_name":"MICAL1","entity_type":"gene"},{"created":"2026-03-26T16:09:01.698951+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.391","user_name":"Rylee Peters","item_type":"entity","text":"Publications for gene: MICAL1 were set to 29394500; 21638339; 38705457","entity_name":"MICAL1","entity_type":"gene"},{"created":"2026-03-26T16:08:43.861297+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.391","user_name":"Rylee Peters","item_type":"entity","text":"Publications for gene: MICAL1 were set to 29394500; 21638339","entity_name":"MICAL1","entity_type":"gene"},{"created":"2026-03-26T16:07:56.833645+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.114","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: TANGO2 as ready","entity_name":"TANGO2","entity_type":"gene"},{"created":"2026-03-26T16:07:56.826590+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.114","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tango2 has been classified as Amber List (Moderate Evidence).","entity_name":"TANGO2","entity_type":"gene"},{"created":"2026-03-26T16:07:54.616169+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.114","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene: TANGO2 were set to 26805782; 30245509","entity_name":"TANGO2","entity_type":"gene"},{"created":"2026-03-26T16:07:41.675979+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.113","user_name":"Chirag Patel","item_type":"entity","text":"Deleted their comment","entity_name":"TANGO2","entity_type":"gene"},{"created":"2026-03-26T16:07:38.823118+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.113","user_name":"Chirag Patel","item_type":"entity","text":"edited their review of gene: TANGO2: Added comment: hypothyroidism noted in 12/20 (PMID: 32929747) and 31/65 (PMID: 36473599) patients but unclear of age of onset.; Changed rating: AMBER; Changed publications: 36473599 32929747","entity_name":"TANGO2","entity_type":"gene"},{"created":"2026-03-26T16:07:14.366547+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.113","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TANGO2 as Amber List (moderate evidence)","entity_name":"TANGO2","entity_type":"gene"},{"created":"2026-03-26T16:07:14.359099+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.113","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tango2 has been classified as Amber List (Moderate Evidence).","entity_name":"TANGO2","entity_type":"gene"},{"created":"2026-03-26T16:07:08.793294+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.112","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TANGO2 as Red List (low evidence)","entity_name":"TANGO2","entity_type":"gene"},{"created":"2026-03-26T16:07:08.782431+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.112","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tango2 has been classified as Red List (Low Evidence).","entity_name":"TANGO2","entity_type":"gene"},{"created":"2026-03-26T16:07:03.192434+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.111","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TANGO2: Rating: RED; Mode of pathogenicity: None; Publications: 36473599, 32929747; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TANGO2","entity_type":"gene"},{"created":"2026-03-26T16:02:56.808372+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.390","user_name":"Rylee Peters","item_type":"panel","text":"Added reviews for gene MICAL1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T15:59:06.064493+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.342","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLX5 as ready","entity_name":"DLX5","entity_type":"gene"},{"created":"2026-03-26T15:59:06.057360+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.342","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlx5 has been classified as Amber List (Moderate Evidence).","entity_name":"DLX5","entity_type":"gene"},{"created":"2026-03-26T15:59:02.167419+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.342","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DLX5 as Amber List (moderate evidence)","entity_name":"DLX5","entity_type":"gene"},{"created":"2026-03-26T15:59:02.157310+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.342","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlx5 has been classified as Amber List (Moderate Evidence).","entity_name":"DLX5","entity_type":"gene"},{"created":"2026-03-26T15:58:53.892848+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.111","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene TANGO2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T15:58:53.825453+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.111","user_name":"Chirag Patel","item_type":"entity","text":"gene: TANGO2 was added\ngene: TANGO2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TANGO2 were set to 26805782; 30245509\nPhenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878","entity_name":"TANGO2","entity_type":"gene"},{"created":"2026-03-26T15:58:26.228344+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.341","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DLX5 was added\ngene: DLX5 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: DLX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DLX5 were set to 41760400; 22121204\nPhenotypes for gene: DLX5 were set to Split-hand/foot malformation 1 with sensorineural hearing loss, MIM# \t220600\nReview for gene: DLX5 was set to AMBER\nAdded comment: Two families reported with bi-allelic variants and SHFM/SNHL. \nSources: Literature","entity_name":"DLX5","entity_type":"gene"},{"created":"2026-03-26T15:58:05.709914+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4633","user_name":"Rylee Peters","item_type":"entity","text":"Publications for gene: MICAL1 were set to 29394500; 21638339","entity_name":"MICAL1","entity_type":"gene"},{"created":"2026-03-26T15:57:32.049239+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4632","user_name":"Rylee Peters","item_type":"entity","text":"reviewed gene: MICAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 38705457, 29394500; Phenotypes: Epilepsy, MONDO:0005027, MICAL1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"MICAL1","entity_type":"gene"},{"created":"2026-03-26T15:54:27.710084+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.110","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: SGPL1 as ready","entity_name":"SGPL1","entity_type":"gene"},{"created":"2026-03-26T15:54:27.702951+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.110","user_name":"Chirag Patel","item_type":"entity","text":"Gene: sgpl1 has been classified as Green List (High Evidence).","entity_name":"SGPL1","entity_type":"gene"},{"created":"2026-03-26T15:54:21.751210+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.110","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene: SGPL1 were set to 33074640","entity_name":"SGPL1","entity_type":"gene"},{"created":"2026-03-26T15:54:09.997080+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.547","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DLX5 were set to 22121204; 24496061; 25196357; 20534536; 12112878","entity_name":"DLX5","entity_type":"gene"},{"created":"2026-03-26T15:54:01.700202+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.109","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35904228, 35748945, 32322566, 28165343, 38204317; Phenotypes: Sphingosine phosphate lyase insufficiency syndrome (SPLIS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SGPL1","entity_type":"gene"},{"created":"2026-03-26T15:53:53.048177+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.546","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 41760400; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DLX5","entity_type":"gene"},{"created":"2026-03-26T15:53:31.539641+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLX5 as ready","entity_name":"DLX5","entity_type":"gene"},{"created":"2026-03-26T15:53:31.529720+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlx5 has been classified as Green List (High Evidence).","entity_name":"DLX5","entity_type":"gene"},{"created":"2026-03-26T15:53:22.103458+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DLX5 were set to ","entity_name":"DLX5","entity_type":"gene"},{"created":"2026-03-26T15:52:46.456442+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DLX5: Added comment: PMID 41760400 adds a new family with a homozygous nonsense DLX5 variant c.97G>T (NM_005221.6) causing autosomal recessive split‑hand/foot malformation type 1D (SHFM1D) accompanied by hypospadias, sensorineural hearing loss and atrial septal defect; Changed publications: 41760400","entity_name":"DLX5","entity_type":"gene"},{"created":"2026-03-26T15:52:28.151367+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.421","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLX5 as ready","entity_name":"DLX5","entity_type":"gene"},{"created":"2026-03-26T15:52:28.140976+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.421","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlx5 has been classified as Green List (High Evidence).","entity_name":"DLX5","entity_type":"gene"},{"created":"2026-03-26T15:52:23.112427+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.421","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DLX5 were set to 27085093","entity_name":"DLX5","entity_type":"gene"},{"created":"2026-03-26T15:51:33.742778+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.420","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DLX5: Added comment: PMID 41760400 adds a new family with a homozygous nonsense DLX5 variant c.97G>T (NM_005221.6) causing autosomal recessive split‑hand/foot malformation type 1D (SHFM1D) accompanied by hypospadias, sensorineural hearing loss and atrial septal defect; Changed publications: 41760400","entity_name":"DLX5","entity_type":"gene"},{"created":"2026-03-26T15:51:03.414965+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4632","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DLX5 were set to 22121204; 24496061; 25196357; 20534536; 12112878","entity_name":"DLX5","entity_type":"gene"},{"created":"2026-03-26T15:50:38.556101+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4631","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DLX5: Added comment: PMID 41760400 adds a new family with a homozygous nonsense DLX5 variant c.97G>T (NM_005221.6) causing autosomal recessive split‑hand/foot malformation type 1D (SHFM1D) accompanied by hypospadias, sensorineural hearing loss and atrial septal defect; Changed publications: 22121204, 24496061, 25196357, 20534536, 12112878, 41760400","entity_name":"DLX5","entity_type":"gene"},{"created":"2026-03-26T15:46:15.100811+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.109","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene SGPL1 from panel Adrenal insufficiency","entity_name":null,"entity_type":null},{"created":"2026-03-26T15:46:15.021320+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.109","user_name":"Chirag Patel","item_type":"entity","text":"gene: SGPL1 was added\ngene: SGPL1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGPL1 were set to 33074640\nPhenotypes for gene: SGPL1 were set to RENI syndrome (MIM#617575)","entity_name":"SGPL1","entity_type":"gene"},{"created":"2026-03-26T15:41:25.453925+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.720","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene: RNPC3 were set to 29866761; 32462814; 33650182","entity_name":"RNPC3","entity_type":"gene"},{"created":"2026-03-26T15:41:24.545239+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.108","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: RNPC3 as ready","entity_name":"RNPC3","entity_type":"gene"},{"created":"2026-03-26T15:41:24.533538+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.108","user_name":"Chirag Patel","item_type":"entity","text":"Gene: rnpc3 has been classified as Green List (High Evidence).","entity_name":"RNPC3","entity_type":"gene"},{"created":"2026-03-26T15:41:12.804292+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.720","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: RNPC3 as Green List (high evidence)","entity_name":"RNPC3","entity_type":"gene"},{"created":"2026-03-26T15:41:12.777230+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.720","user_name":"Chirag Patel","item_type":"entity","text":"Gene: rnpc3 has been classified as Green List (High Evidence).","entity_name":"RNPC3","entity_type":"gene"},{"created":"2026-03-26T15:40:50.630979+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.719","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: RNPC3 as Green List (high evidence)","entity_name":"RNPC3","entity_type":"gene"},{"created":"2026-03-26T15:40:50.621139+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.719","user_name":"Chirag Patel","item_type":"entity","text":"Gene: rnpc3 has been classified as Green List (High Evidence).","entity_name":"RNPC3","entity_type":"gene"},{"created":"2026-03-26T15:40:37.801791+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.719","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: RNPC3 as Green List (high evidence)","entity_name":"RNPC3","entity_type":"gene"},{"created":"2026-03-26T15:40:37.790064+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.719","user_name":"Chirag Patel","item_type":"entity","text":"Gene: rnpc3 has been classified as Green List (High Evidence).","entity_name":"RNPC3","entity_type":"gene"},{"created":"2026-03-26T15:39:57.064549+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4631","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene: RNPC3 were set to 29866761; 32462814; 33650182","entity_name":"RNPC3","entity_type":"gene"},{"created":"2026-03-26T15:39:30.414834+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.101","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene: RNPC3 were set to 32462814; 29866761; 24480542; 33650182","entity_name":"RNPC3","entity_type":"gene"},{"created":"2026-03-26T15:39:06.349891+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4630","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene RNPC3 from panel Pituitary hormone deficiency","entity_name":null,"entity_type":null},{"created":"2026-03-26T15:38:51.629970+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.718","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene RNPC3 from panel Pituitary hormone deficiency","entity_name":null,"entity_type":null},{"created":"2026-03-26T15:38:08.478246+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.100","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene RNPC3 from panel Pituitary hormone deficiency","entity_name":null,"entity_type":null},{"created":"2026-03-26T15:38:08.077635+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.108","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene RNPC3 from panel Pituitary hormone deficiency","entity_name":null,"entity_type":null},{"created":"2026-03-26T15:38:08.011498+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.108","user_name":"Chirag Patel","item_type":"entity","text":"gene: RNPC3 was added\ngene: RNPC3 was added to Congenital hypothyroidism. Sources: Expert Review Green,Literature\nMode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNPC3 were set to 29866761; 32462814; 33650182; 37463572; 35792517; 34906446\nPhenotypes for gene: RNPC3 were set to Growth hormone deficiency; Intellectual disability","entity_name":"RNPC3","entity_type":"gene"},{"created":"2026-03-26T15:37:26.837166+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.199","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene: RNPC3 were set to 29866761; 32462814; 33650182","entity_name":"RNPC3","entity_type":"gene"},{"created":"2026-03-26T15:36:51.204771+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.198","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: RNPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37463572, 35792517, 34906446; Phenotypes: Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RNPC3","entity_type":"gene"}]}