{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=67","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=65","results":[{"created":"2026-01-06T12:12:36.841804+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.544","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: CAMK2G were changed from Mental retardation, autosomal dominant 59, MIM#\t618522 to Intellectual developmental disorder, autosomal dominant 59 MIM#\t618522","entity_name":"CAMK2G","entity_type":"gene"},{"created":"2026-01-06T12:12:08.425032+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3969","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: CAMK2G were changed from Mental retardation, autosomal dominant 59, MIM# 618522 to Intellectual developmental disorder, autosomal dominant 59\tMIM# 618522","entity_name":"CAMK2G","entity_type":"gene"},{"created":"2026-01-06T10:58:13.912856+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.157","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: CEL were set to 19760265; 21784842; 27650499; 18544793; 17989309; 24062244; 16369531; 25160620","entity_name":"CEL","entity_type":"gene"},{"created":"2026-01-06T10:57:40.053044+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3968","user_name":"Seb Lunke","item_type":"entity","text":"Mode of pathogenicity for gene: CEL was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"CEL","entity_type":"gene"},{"created":"2026-01-06T10:57:12.072116+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.156","user_name":"Seb Lunke","item_type":"entity","text":"Mode of pathogenicity for gene: CEL was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"CEL","entity_type":"gene"},{"created":"2026-01-06T10:56:41.705294+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.155","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: CEL as Green List (high evidence)","entity_name":"CEL","entity_type":"gene"},{"created":"2026-01-06T10:56:41.702204+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.155","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on list classification: Remains technically challenging but most of critical region (First 5 repeats of exon 11 VNTR) are callable on short read data.","entity_name":"CEL","entity_type":"gene"},{"created":"2026-01-06T10:56:41.685875+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.155","user_name":"Seb Lunke","item_type":"entity","text":"Gene: cel has been classified as Green List (High Evidence).","entity_name":"CEL","entity_type":"gene"},{"created":"2026-01-06T10:56:16.000875+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.154","user_name":"Seb Lunke","item_type":"entity","text":"Tag technically challenging tag was added to gene: CEL.","entity_name":"CEL","entity_type":"gene"},{"created":"2026-01-06T10:55:53.301194+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.154","user_name":"Seb Lunke","item_type":"panel","text":"Added reviews for gene CEL from panel Maturity-onset Diabetes of the Young","entity_name":null,"entity_type":null},{"created":"2026-01-06T10:54:55.164853+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3967","user_name":"Seb Lunke","item_type":"entity","text":"Tag technically challenging tag was added to gene: CEL.","entity_name":"CEL","entity_type":"gene"},{"created":"2026-01-06T10:53:31.883610+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3967","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on mode of pathogenicity: Dominant Negative Gain-of-Function experimentally established","entity_name":"CEL","entity_type":"gene"},{"created":"2026-01-06T10:53:31.865327+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3967","user_name":"Seb Lunke","item_type":"entity","text":"Mode of pathogenicity for gene: CEL was changed from  to Other","entity_name":"CEL","entity_type":"gene"},{"created":"2026-01-06T10:52:17.840538+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3966","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: CEL were set to 24062244; 21784842; 19760265; 18544793; 17989309; 16369531; 29233499; 27650499","entity_name":"CEL","entity_type":"gene"},{"created":"2026-01-06T10:51:42.701579+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3965","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: CEL as Green List (high evidence)","entity_name":"CEL","entity_type":"gene"},{"created":"2026-01-06T10:51:42.696038+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3965","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on list classification: Remains technically challenging but most of critical region (First 5 repeats of exon 11 VNTR) are callable on short read data.","entity_name":"CEL","entity_type":"gene"},{"created":"2026-01-06T10:51:42.673133+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3965","user_name":"Seb Lunke","item_type":"entity","text":"Gene: cel has been classified as Green List (High Evidence).","entity_name":"CEL","entity_type":"gene"},{"created":"2026-01-06T10:33:49.480618+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.153","user_name":"Seb Lunke","item_type":"entity","text":"Deleted their review","entity_name":"CEL","entity_type":"gene"},{"created":"2026-01-06T10:32:26.142141+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3964","user_name":"Seb Lunke","item_type":"panel","text":"Added reviews for gene CEL from panel Genomic screening in children: BabyScreen+","entity_name":null,"entity_type":null},{"created":"2026-01-06T10:31:51.187534+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.153","user_name":"Seb Lunke","item_type":"panel","text":"Added reviews for gene CEL from panel Genomic screening in children: BabyScreen+","entity_name":null,"entity_type":null},{"created":"2026-01-05T15:01:51.592167+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: APBB1 as ready","entity_name":"APBB1","entity_type":"gene"},{"created":"2026-01-05T15:01:51.585329+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: apbb1 has been classified as Amber List (Moderate Evidence).","entity_name":"APBB1","entity_type":"gene"},{"created":"2026-01-05T15:01:23.903909+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.64","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene APBB1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-05T15:01:23.830574+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.64","user_name":"Zornitza Stark","item_type":"entity","text":"gene: APBB1 was added\ngene: APBB1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: APBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: APBB1 were set to 40151319\nPhenotypes for gene: APBB1 were set to Infertility disorder, MONDO:0005047, APBB1-related","entity_name":"APBB1","entity_type":"gene"},{"created":"2026-01-05T15:01:06.645999+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3963","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: APBB1 as ready","entity_name":"APBB1","entity_type":"gene"},{"created":"2026-01-05T15:01:06.637803+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3963","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: apbb1 has been classified as Amber List (Moderate Evidence).","entity_name":"APBB1","entity_type":"gene"},{"created":"2026-01-05T15:00:57.176193+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3963","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: APBB1 as Amber List (moderate evidence)","entity_name":"APBB1","entity_type":"gene"},{"created":"2026-01-05T15:00:57.166150+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3963","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: apbb1 has been classified as Amber List (Moderate Evidence).","entity_name":"APBB1","entity_type":"gene"},{"created":"2026-01-05T15:00:42.537424+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3962","user_name":"Zornitza Stark","item_type":"entity","text":"gene: APBB1 was added\ngene: APBB1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: APBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: APBB1 were set to 40151319\nPhenotypes for gene: APBB1 were set to Infertility disorder, MONDO:0005047, APBB1-related\nReview for gene: APBB1 was set to AMBER\nAdded comment: PMID 40151319 reports 9 individuals from 9 unrelated families with heterozygous variants (missense, nonsense, frameshift) in APBB1 presenting with non‑obstructive azoospermia (NOA). The study provides mouse conditional knockout and human spermatogonial stem cell knock‑down functional data supporting a role for APBB1 loss of function in spermatogenic failure. Missing segregation data and at least 2 of the reported variants are present at high frequencies in gnomAD. \nSources: Literature","entity_name":"APBB1","entity_type":"gene"},{"created":"2026-01-04T21:53:19.905891+11:00","panel_name":"Leukodystrophy","panel_id":298,"panel_version":"0.388","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Leukodystrophy - paediatric to Leukodystrophy","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:51:27.358573+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.387","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR PRNP_CJD_octapeptide from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:51:27.240414+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.387","user_name":"Bryony Thompson","item_type":"entity","text":"STR: PRNP_CJD_octapeptide was added\nSTR: PRNP_CJD_octapeptide was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature\nMode of inheritance for STR: PRNP_CJD_octapeptide was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: PRNP_CJD_octapeptide were set to 2159587; 20301407\nPhenotypes for STR: PRNP_CJD_octapeptide were set to Creutzfeldt-Jakob disease MIM#123400; Gerstmann-Straussler disease MIM#137440","entity_name":"PRNP_CJD_octapeptide","entity_type":"str"},{"created":"2026-01-04T21:51:04.864633+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.386","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR NOTCH2NLC_NIID_GGC from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:51:04.738500+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.386","user_name":"Bryony Thompson","item_type":"entity","text":"STR: NOTCH2NLC_NIID_GGC was added\nSTR: NOTCH2NLC_NIID_GGC was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature\nMode of inheritance for STR: NOTCH2NLC_NIID_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NOTCH2NLC_NIID_GGC were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668\nPhenotypes for STR: NOTCH2NLC_NIID_GGC were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866","entity_name":"NOTCH2NLC_NIID_GGC","entity_type":"str"},{"created":"2026-01-04T21:50:35.257482+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.385","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR C9orf72_FTDALS_GGGGCC from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:50:35.030793+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.385","user_name":"Bryony Thompson","item_type":"entity","text":"STR: C9orf72_FTDALS_GGGGCC was added\nSTR: C9orf72_FTDALS_GGGGCC was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature\nMode of inheritance for STR: C9orf72_FTDALS_GGGGCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: C9orf72_FTDALS_GGGGCC were set to 36970046; 36632182\nPhenotypes for STR: C9orf72_FTDALS_GGGGCC were set to frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105\nPenetrance for STR: C9orf72_FTDALS_GGGGCC were set to Incomplete","entity_name":"C9orf72_FTDALS_GGGGCC","entity_type":"str"},{"created":"2026-01-04T21:49:44.671477+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.384","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ZNF319 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:49:44.541344+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.384","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ZNF319 was added\ngene: ZNF319 was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Literature\nMode of inheritance for gene: ZNF319 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF319 were set to 40820230\nPhenotypes for gene: ZNF319 were set to Leukodystrophy, MONDO:0019046, ZNF319-related","entity_name":"ZNF319","entity_type":"gene"},{"created":"2026-01-04T21:49:23.396147+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.383","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene UNC13D from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:49:23.283236+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.383","user_name":"Bryony Thompson","item_type":"entity","text":"gene: UNC13D was added\ngene: UNC13D was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Expert list\nMode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UNC13D were set to Hemophagocytic lymphohistiocytosis, familial, 3 608898","entity_name":"UNC13D","entity_type":"gene"},{"created":"2026-01-04T21:48:59.080420+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.382","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene TYROBP from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:48:58.967278+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.382","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TYROBP was added\ngene: TYROBP was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770","entity_name":"TYROBP","entity_type":"gene"},{"created":"2026-01-04T21:48:25.378867+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.381","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene TREM2 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:48:25.261511+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.381","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TREM2 was added\ngene: TREM2 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TREM2 were set to 12080485; 15883308\nPhenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193","entity_name":"TREM2","entity_type":"gene"},{"created":"2026-01-04T21:48:03.694959+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.380","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene TPP2 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:48:03.558552+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.380","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TPP2 was added\ngene: TPP2 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Expert Review\nMode of inheritance for gene: TPP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPP2 were set to 25414442\nPhenotypes for gene: TPP2 were set to Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220","entity_name":"TPP2","entity_type":"gene"},{"created":"2026-01-04T21:47:07.095002+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.379","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene STXBP2 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:47:06.979301+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.379","user_name":"Bryony Thompson","item_type":"entity","text":"gene: STXBP2 was added\ngene: STXBP2 was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Expert list\nMode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5 613101","entity_name":"STXBP2","entity_type":"gene"},{"created":"2026-01-04T21:46:35.493222+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.378","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SPG7 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:46:35.376857+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.378","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SPG7 was added\ngene: SPG7 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SPG7 were set to 20108356; 17646629\nPhenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive 607259","entity_name":"SPG7","entity_type":"gene"},{"created":"2026-01-04T21:45:38.947464+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.377","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SPG21 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:45:38.815576+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.377","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SPG21 was added\ngene: SPG21 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Expert list\nnew gene name tags were added to gene: SPG21.\nMode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPG21 were set to 14564668\nPhenotypes for gene: SPG21 were set to Mast syndrome 248900","entity_name":"SPG21","entity_type":"gene"},{"created":"2026-01-04T21:44:47.448681+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.376","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SPAST from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:44:47.334972+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.376","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SPAST was added\ngene: SPAST was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SPAST were set to 23968121\nPhenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant 182601","entity_name":"SPAST","entity_type":"gene"},{"created":"2026-01-04T21:43:42.384558+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.375","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene RPS6KA3 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:43:42.247831+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.375","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RPS6KA3 was added\ngene: RPS6KA3 was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: RPS6KA3 were set to 16691578\nPhenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome, 303600","entity_name":"RPS6KA3","entity_type":"gene"},{"created":"2026-01-04T21:43:01.563204+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.374","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene RNF216 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:43:01.370734+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.374","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RNF216 was added\ngene: RNF216 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF216 were set to 28334938; 26250479\nPhenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840","entity_name":"RNF216","entity_type":"gene"},{"created":"2026-01-04T21:42:10.704446+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.373","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene PSEN2 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:42:10.560867+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.373","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PSEN2 was added\ngene: PSEN2 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other\nMode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSEN2 were set to 36845656\nPhenotypes for gene: PSEN2 were set to early-onset autosomal dominant Alzheimer disease MONDO:0015140\nMode of pathogenicity for gene: PSEN2 was set to Other","entity_name":"PSEN2","entity_type":"gene"},{"created":"2026-01-04T21:41:42.883488+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.372","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene PSEN1 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:41:42.747200+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.372","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PSEN1 was added\ngene: PSEN1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other\nMode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSEN1 were set to 36845656\nPhenotypes for gene: PSEN1 were set to early-onset autosomal dominant Alzheimer disease MONDO:0015140\nMode of pathogenicity for gene: PSEN1 was set to Other","entity_name":"PSEN1","entity_type":"gene"},{"created":"2026-01-04T21:41:08.355001+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.371","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene PRNP from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:41:08.236887+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.371","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PRNP was added\ngene: PRNP was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other\nMode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRNP were set to 25220284; 24252267\nPhenotypes for gene: PRNP were set to fatal familial insomnia MONDO:0010808\nMode of pathogenicity for gene: PRNP was set to Other","entity_name":"PRNP","entity_type":"gene"},{"created":"2026-01-04T21:40:11.867601+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.370","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene POLG2 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:40:11.749038+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.370","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POLG2 was added\ngene: POLG2 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLG2 were set to 25655951\nPhenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131","entity_name":"POLG2","entity_type":"gene"},{"created":"2026-01-04T21:39:39.477797+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.369","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene PLD3 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:39:39.352743+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.369","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PLD3 was added\ngene: PLD3 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: PLD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLD3 were set to PMID: 34267643\nPhenotypes for gene: PLD3 were set to Leukodystrophy","entity_name":"PLD3","entity_type":"gene"},{"created":"2026-01-04T21:38:47.877252+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.368","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene PAH from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:38:47.765721+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.368","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PAH was added\ngene: PAH was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\ntreatable tags were added to gene: PAH.\nMode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAH were set to 31636599; 32141105\nPhenotypes for gene: PAH were set to Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600","entity_name":"PAH","entity_type":"gene"},{"created":"2026-01-04T21:38:16.749491+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.367","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene NPC2 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:38:16.478533+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.367","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NPC2 was added\ngene: NPC2 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPC2 were set to 25396745\nPhenotypes for gene: NPC2 were set to Niemann-pick disease, type C2 607625","entity_name":"NPC2","entity_type":"gene"},{"created":"2026-01-04T21:37:02.227592+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.366","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene NOTCH3 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:37:01.968122+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.366","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NOTCH3 was added\ngene: NOTCH3 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NOTCH3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: NOTCH3 were set to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2026-01-04T21:36:06.815614+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.365","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene MTHFR from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:36:06.702111+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.365","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MTHFR was added\ngene: MTHFR was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTHFR were set to 29391032\nPhenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency, 236250","entity_name":"MTHFR","entity_type":"gene"},{"created":"2026-01-04T21:35:19.922489+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.364","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene MARS from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:35:19.811037+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.364","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MARS was added\ngene: MARS was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: MARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MARS were set to Charcot-Marie-Tooth disease, axonal, type 2U, 616280","entity_name":"MARS","entity_type":"gene"},{"created":"2026-01-04T21:34:34.189567+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.363","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene MAPT from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:34:34.068564+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.363","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MAPT was added\ngene: MAPT was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature\nMode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAPT were set to 33802612; 36970046\nPhenotypes for gene: MAPT were set to semantic dementia\tMONDO:0010857\nMode of pathogenicity for gene: MAPT was set to Other","entity_name":"MAPT","entity_type":"gene"},{"created":"2026-01-04T21:33:50.897658+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.362","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene MAN2B1 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:33:50.758499+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.362","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MAN2B1 was added\ngene: MAN2B1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, MIM#248500","entity_name":"MAN2B1","entity_type":"gene"},{"created":"2026-01-04T21:33:06.404418+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.361","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene LMNB1 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:33:06.258740+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.361","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LMNB1 was added\ngene: LMNB1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital,Australian Genomcis Health Alliance Leukodystrophy Flagship,Victorian Clinical Genetics Services\nSV/CNV tags were added to gene: LMNB1.\nMode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LMNB1 were set to 16951681; 30842973\nPhenotypes for gene: LMNB1 were set to Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500; Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061","entity_name":"LMNB1","entity_type":"gene"},{"created":"2026-01-04T21:32:33.487781+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.360","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene LARS2 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:32:33.357293+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.360","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LARS2 was added\ngene: LARS2 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature\nMode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LARS2 were set to 32442335; 30737337\nPhenotypes for gene: LARS2 were set to Leukodystrophy","entity_name":"LARS2","entity_type":"gene"},{"created":"2026-01-04T21:31:09.066417+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.359","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: LAMB1 were set to 29888467; 25925986","entity_name":"LAMB1","entity_type":"gene"},{"created":"2026-01-04T21:30:55.057855+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.358","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: LAMB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LAMB1","entity_type":"gene"},{"created":"2026-01-04T21:29:56.630935+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.357","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: LAMB1 as Green List (high evidence)","entity_name":"LAMB1","entity_type":"gene"},{"created":"2026-01-04T21:29:56.622546+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.357","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lamb1 has been classified as Green List (High Evidence).","entity_name":"LAMB1","entity_type":"gene"},{"created":"2026-01-04T21:29:17.460728+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.356","user_name":"Bryony Thompson","item_type":"panel","text":"Added reviews for gene LAMB1 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:28:13.768471+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.355","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ITM2B from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:28:13.643244+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.355","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ITM2B was added\ngene: ITM2B was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Other\nMode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ITM2B were set to 10775542\nPhenotypes for gene: ITM2B were set to ABri amyloidosis MONDO:0008306\nMode of pathogenicity for gene: ITM2B was set to Other","entity_name":"ITM2B","entity_type":"gene"},{"created":"2026-01-04T21:27:15.331998+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.354","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene HTRA1 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:27:15.211721+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.354","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HTRA1 was added\ngene: HTRA1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HTRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: HTRA1 were set to Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779; CARASIL syndrome, 600142","entity_name":"HTRA1","entity_type":"gene"},{"created":"2026-01-04T21:26:20.774055+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.353","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene GRN from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:26:20.641468+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.353","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GRN was added\ngene: GRN was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other\nMode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRN were set to 36970046; 36632182\nPhenotypes for gene: GRN were set to GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842","entity_name":"GRN","entity_type":"gene"},{"created":"2026-01-04T21:25:26.400441+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.352","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene GLA from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:25:26.289508+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.352","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GLA was added\ngene: GLA was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GLA were set to Fabry disease, Fabry disease, cardiac variant,  301500","entity_name":"GLA","entity_type":"gene"},{"created":"2026-01-04T21:24:46.415347+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.351","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene GJB1 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null}]}