{"count":220437,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=68","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=66","results":[{"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},{"created":"2026-01-04T21:24:46.300564+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.351","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GJB1 was added\ngene: GJB1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GJB1 were set to 31842800\nPhenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800; Reversible posterior leukoencephalopathy","entity_name":"GJB1","entity_type":"gene"},{"created":"2026-01-04T21:24:19.184298+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.350","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene GJA1 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:24:19.071306+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.350","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GJA1 was added\ngene: GJA1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GJA1 were set to 31023660\nPhenotypes for gene: GJA1 were set to Hereditary spastic paraplegia; Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850","entity_name":"GJA1","entity_type":"gene"},{"created":"2026-01-04T21:23:38.177442+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.349","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene GCDH from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:23:38.064947+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.349","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GCDH was added\ngene: GCDH was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCDH were set to Glutaric aciduria, type I, MIM#231670","entity_name":"GCDH","entity_type":"gene"},{"created":"2026-01-04T21:22:45.218428+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.348","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene GBE1 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:22:44.993201+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.348","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GBE1 was added\ngene: GBE1 was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form, 263570","entity_name":"GBE1","entity_type":"gene"},{"created":"2026-01-04T21:21:25.933895+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.347","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene GAN from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:21:25.815152+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.347","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GAN was added\ngene: GAN was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAN were set to Giant axonal neuropathy-1, MIM#256850","entity_name":"GAN","entity_type":"gene"},{"created":"2026-01-04T21:20:39.478636+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.346","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene CYP27A1 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:20:39.350688+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.346","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CYP27A1 was added\ngene: CYP27A1 was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2026-01-04T21:19:58.389112+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.345","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene CTSA from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:19:58.275084+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.345","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CTSA was added\ngene: CTSA was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CTSA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CTSA were set to 31177426\nPhenotypes for gene: CTSA were set to Brain small vessel disease 6 with leukoencephalopathy, MIM# 621394","entity_name":"CTSA","entity_type":"gene"},{"created":"2026-01-04T21:19:08.195170+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.344","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene CST3 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:19:08.081567+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.344","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CST3 was added\ngene: CST3 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CST3 were set to 38489591\nPhenotypes for gene: CST3 were set to Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy, MIM#621214","entity_name":"CST3","entity_type":"gene"},{"created":"2026-01-04T21:18:02.142860+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.343","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene CSF1R from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:18:01.582863+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.343","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CSF1R was added\ngene: CSF1R was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CSF1R were set to Leukoencephalopathy, diffuse hereditary, with spheroids, 221820","entity_name":"CSF1R","entity_type":"gene"},{"created":"2026-01-04T21:16:53.695661+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.342","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene COL4A2 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:16:53.577305+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.342","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COL4A2 was added\ngene: COL4A2 was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: COL4A2 were set to 30413629; 27624120; 24390199\nPhenotypes for gene: COL4A2 were set to Brain small vessel disease 2, 614483","entity_name":"COL4A2","entity_type":"gene"},{"created":"2026-01-04T21:15:23.449798+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.341","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene COL4A1 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:15:23.341325+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.341","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COL4A1 was added\ngene: COL4A1 was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Brain small vessel disease with or without ocular anomalies, 175780","entity_name":"COL4A1","entity_type":"gene"},{"created":"2026-01-04T21:14:51.496642+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.340","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene C1R from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:14:51.368592+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.340","user_name":"Bryony Thompson","item_type":"entity","text":"gene: C1R was added\ngene: C1R was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other,Literature\nMode of inheritance for gene: C1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: C1R were set to 8958339; 30535813\nPhenotypes for gene: C1R were set to Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080); Leukodystrophy - adult onset\nPenetrance for gene: C1R were set to unknown\nMode of pathogenicity for gene: C1R was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"C1R","entity_type":"gene"},{"created":"2026-01-04T21:13:35.919046+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.339","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ATP7B from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:13:35.796531+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.339","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATP7B was added\ngene: ATP7B was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP7B were set to 16966556; 12020274\nPhenotypes for gene: ATP7B were set to Wilson disease, 277900","entity_name":"ATP7B","entity_type":"gene"},{"created":"2026-01-04T21:13:01.191982+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.338","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene APP from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:13:00.981237+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.338","user_name":"Bryony Thompson","item_type":"entity","text":"gene: APP was added\ngene: APP was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other\nMode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: APP were set to 36845656\nPhenotypes for gene: APP were set to early-onset autosomal dominant Alzheimer disease MONDO:0015140","entity_name":"APP","entity_type":"gene"},{"created":"2026-01-04T21:12:17.225622+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.337","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ANXA11 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:12:17.113007+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.337","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ANXA11 was added\ngene: ANXA11 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert Review\nfounder tags were added to gene: ANXA11.\nMode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANXA11 were set to 34048612\nPhenotypes for gene: ANXA11 were set to Inclusion body myopathy and brain white matter abnormalities, MIM# 619733","entity_name":"ANXA11","entity_type":"gene"},{"created":"2026-01-04T21:11:18.393027+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.336","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene AARS2 from panel Leukodystrophy - adult onset","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:11:18.280050+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.336","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AARS2 was added\ngene: AARS2 was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AARS2 were set to Leukoencephalopathy, progressive, with ovarian failure, 615889","entity_name":"AARS2","entity_type":"gene"},{"created":"2026-01-04T21:06:47.663278+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3961","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:06:47.119281+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3961","user_name":"Bryony Thompson","item_type":"entity","text":"STR: ZIC2_HPE5_GCN was added\nSTR: ZIC2_HPE5_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: ZIC2_HPE5_GCN.\nMode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808\nPhenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637","entity_name":"ZIC2_HPE5_GCN","entity_type":"str"},{"created":"2026-01-04T21:06:34.946445+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.543","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:06:34.609698+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.543","user_name":"Bryony Thompson","item_type":"entity","text":"STR: ZIC2_HPE5_GCN was added\nSTR: ZIC2_HPE5_GCN was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: ZIC2_HPE5_GCN.\nMode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808\nPhenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637","entity_name":"ZIC2_HPE5_GCN","entity_type":"str"},{"created":"2026-01-04T21:05:51.924038+11:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.22","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:05:51.727380+11:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.22","user_name":"Bryony Thompson","item_type":"entity","text":"STR: ZIC2_HPE5_GCN was added\nSTR: ZIC2_HPE5_GCN was added to Holoprosencephaly and septo-optic dysplasia. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: ZIC2_HPE5_GCN.\nMode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808\nPhenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637","entity_name":"ZIC2_HPE5_GCN","entity_type":"str"},{"created":"2026-01-04T21:05:16.502089+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.503","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:05:16.031459+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.503","user_name":"Bryony Thompson","item_type":"entity","text":"STR: ZIC2_HPE5_GCN was added\nSTR: ZIC2_HPE5_GCN was added to Fetal anomalies. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: ZIC2_HPE5_GCN.\nMode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808\nPhenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637","entity_name":"ZIC2_HPE5_GCN","entity_type":"str"},{"created":"2026-01-04T21:05:11.613919+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.301","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:05:11.544091+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.301","user_name":"Bryony Thompson","item_type":"entity","text":"STR: ZIC2_HPE5_GCN was added\nSTR: ZIC2_HPE5_GCN was added to Clefting disorders. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: ZIC2_HPE5_GCN.\nMode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808\nPhenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637","entity_name":"ZIC2_HPE5_GCN","entity_type":"str"},{"created":"2026-01-04T21:00:26.658806+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3960","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR XYLT1_DBQD2_GGC from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T21:00:25.586133+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3960","user_name":"Bryony Thompson","item_type":"entity","text":"STR: XYLT1_DBQD2_GGC was added\nSTR: XYLT1_DBQD2_GGC was added to Mendeliome. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: XYLT1_DBQD2_GGC.\nMode of inheritance for STR: XYLT1_DBQD2_GGC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: XYLT1_DBQD2_GGC were set to 30554721\nPhenotypes for STR: XYLT1_DBQD2_GGC were set to Desbuquois dysplasia 2 MIM#615777","entity_name":"XYLT1_DBQD2_GGC","entity_type":"str"},{"created":"2026-01-04T20:59:24.772992+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3959","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR VWA1_HMNMYO_GCGCGGAGCG from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T20:59:24.211906+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3959","user_name":"Bryony Thompson","item_type":"entity","text":"STR: VWA1_HMNMYO_GCGCGGAGCG was added\nSTR: VWA1_HMNMYO_GCGCGGAGCG was added to Mendeliome. Sources: Expert Review Green,Literature\npaediatric-onset tags were added to STR: VWA1_HMNMYO_GCGCGGAGCG.\nMode of inheritance for STR: VWA1_HMNMYO_GCGCGGAGCG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: VWA1_HMNMYO_GCGCGGAGCG were set to 33559681; 33459760\nPhenotypes for STR: VWA1_HMNMYO_GCGCGGAGCG were set to Neuropathy, hereditary motor, with myopathic features\tMIM#619216","entity_name":"VWA1_HMNMYO_GCGCGGAGCG","entity_type":"str"},{"created":"2026-01-04T20:55:44.463228+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3958","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR TCF4_FECD3_CTG from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T20:55:43.382711+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3958","user_name":"Bryony Thompson","item_type":"entity","text":"STR: TCF4_FECD3_CTG was added\nSTR: TCF4_FECD3_CTG was added to Mendeliome. Sources: Expert Review Green,Expert list\nadult-onset tags were added to STR: TCF4_FECD3_CTG.\nMode of inheritance for STR: TCF4_FECD3_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: TCF4_FECD3_CTG were set to 25722209; 24255041\nPhenotypes for STR: TCF4_FECD3_CTG were set to Corneal dystrophy, Fuchs endothelial, 3 MIM#613267","entity_name":"TCF4_FECD3_CTG","entity_type":"str"},{"created":"2026-01-04T20:54:51.372286+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3957","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR TBX1_TOF_GCN from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T20:54:50.800771+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3957","user_name":"Bryony Thompson","item_type":"entity","text":"STR: TBX1_TOF_GCN was added\nSTR: TBX1_TOF_GCN was added to Mendeliome. Sources: Expert Review Green,Literature\npaediatric-onset tags were added to STR: TBX1_TOF_GCN.\nMode of inheritance for STR: TBX1_TOF_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: TBX1_TOF_GCN were set to 19948535; 11748311\nPhenotypes for STR: TBX1_TOF_GCN were set to Tetralogy of Fallot MIM#187500","entity_name":"TBX1_TOF_GCN","entity_type":"str"},{"created":"2026-01-04T20:54:38.371656+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.517","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR TBX1_TOF_GCN from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T20:54:38.230141+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.517","user_name":"Bryony Thompson","item_type":"entity","text":"STR: TBX1_TOF_GCN was added\nSTR: TBX1_TOF_GCN was added to Congenital Heart Defect. Sources: Expert Review Green,Literature\npaediatric-onset tags were added to STR: TBX1_TOF_GCN.\nMode of inheritance for STR: TBX1_TOF_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: TBX1_TOF_GCN were set to 19948535; 11748311\nPhenotypes for STR: TBX1_TOF_GCN were set to Tetralogy of Fallot MIM#187500","entity_name":"TBX1_TOF_GCN","entity_type":"str"},{"created":"2026-01-04T20:51:01.189710+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3956","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR TAF1_XDP_CCCTCT from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T20:50:59.985131+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3956","user_name":"Bryony Thompson","item_type":"entity","text":"STR: TAF1_XDP_CCCTCT was added\nSTR: TAF1_XDP_CCCTCT was added to Mendeliome. Sources: Expert Review Green,Expert list\nfounder, adult-onset tags were added to STR: TAF1_XDP_CCCTCT.\nMode of inheritance for STR: TAF1_XDP_CCCTCT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: TAF1_XDP_CCCTCT were set to 17273961; 29229810\nPhenotypes for STR: TAF1_XDP_CCCTCT were set to Dystonia-Parkinsonism, X-linked MIM#314250","entity_name":"TAF1_XDP_CCCTCT","entity_type":"str"},{"created":"2026-01-04T20:48:55.791215+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.170","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR SOX3_PHPX_GCN from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T20:48:55.719996+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.170","user_name":"Bryony Thompson","item_type":"entity","text":"STR: SOX3_PHPX_GCN was added\nSTR: SOX3_PHPX_GCN was added to Pituitary hormone deficiency. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: SOX3_PHPX_GCN.\nMode of inheritance for STR: SOX3_PHPX_GCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: SOX3_PHPX_GCN were set to 12428212; 15800844; 33811808; 23505376; 19654509\nPhenotypes for STR: SOX3_PHPX_GCN were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000","entity_name":"SOX3_PHPX_GCN","entity_type":"str"},{"created":"2026-01-04T20:48:55.494630+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3955","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR SOX3_PHPX_GCN from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T20:48:54.942585+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3955","user_name":"Bryony Thompson","item_type":"entity","text":"STR: SOX3_PHPX_GCN was added\nSTR: SOX3_PHPX_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: SOX3_PHPX_GCN.\nMode of inheritance for STR: SOX3_PHPX_GCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: SOX3_PHPX_GCN were set to 12428212; 15800844; 33811808; 23505376; 19654509\nPhenotypes for STR: SOX3_PHPX_GCN were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000","entity_name":"SOX3_PHPX_GCN","entity_type":"str"},{"created":"2026-01-04T20:48:42.797095+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.78","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR SOX3_PHPX_GCN from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T20:48:42.736466+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.78","user_name":"Bryony Thompson","item_type":"entity","text":"STR: SOX3_PHPX_GCN was added\nSTR: SOX3_PHPX_GCN was added to Congenital hypothyroidism. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: SOX3_PHPX_GCN.\nMode of inheritance for STR: SOX3_PHPX_GCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: SOX3_PHPX_GCN were set to 12428212; 15800844; 33811808; 23505376; 19654509\nPhenotypes for STR: SOX3_PHPX_GCN were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000","entity_name":"SOX3_PHPX_GCN","entity_type":"str"},{"created":"2026-01-04T18:45:14.823564+11:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR PRDM12_HSAN8_GCC from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T18:45:14.735862+11:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"STR: PRDM12_HSAN8_GCC was added\nSTR: PRDM12_HSAN8_GCC was added to Pain syndromes. Sources: Expert Review Green,Literature\npaediatric-onset tags were added to STR: PRDM12_HSAN8_GCC.\nMode of inheritance for STR: PRDM12_HSAN8_GCC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: PRDM12_HSAN8_GCC were set to 26005867\nPhenotypes for STR: PRDM12_HSAN8_GCC were set to Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488","entity_name":"PRDM12_HSAN8_GCC","entity_type":"str"},{"created":"2026-01-04T18:45:04.741404+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3954","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR PRDM12_HSAN8_GCC from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T18:45:03.604277+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3954","user_name":"Bryony Thompson","item_type":"entity","text":"STR: PRDM12_HSAN8_GCC was added\nSTR: PRDM12_HSAN8_GCC was added to Mendeliome. Sources: Expert Review Green,Literature\npaediatric-onset tags were added to STR: PRDM12_HSAN8_GCC.\nMode of inheritance for STR: PRDM12_HSAN8_GCC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: PRDM12_HSAN8_GCC were set to 26005867\nPhenotypes for STR: PRDM12_HSAN8_GCC were set to Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488","entity_name":"PRDM12_HSAN8_GCC","entity_type":"str"},{"created":"2026-01-04T18:43:21.085311+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"1.1","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T18:43:20.891613+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"1.1","user_name":"Bryony Thompson","item_type":"entity","text":"STR: PHOX2B_CCHS_GCN was added\nSTR: PHOX2B_CCHS_GCN was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.\nMode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833\nPhenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880","entity_name":"PHOX2B_CCHS_GCN","entity_type":"str"},{"created":"2026-01-04T18:42:43.883989+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3953","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T18:42:42.827884+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3953","user_name":"Bryony Thompson","item_type":"entity","text":"STR: PHOX2B_CCHS_GCN was added\nSTR: PHOX2B_CCHS_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.\nMode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833\nPhenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880","entity_name":"PHOX2B_CCHS_GCN","entity_type":"str"},{"created":"2026-01-04T18:42:30.324812+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T18:42:30.145145+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"STR: PHOX2B_CCHS_GCN was added\nSTR: PHOX2B_CCHS_GCN was added to Hirschsprung disease. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.\nMode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833\nPhenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880","entity_name":"PHOX2B_CCHS_GCN","entity_type":"str"},{"created":"2026-01-04T18:41:54.095039+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.502","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T18:41:50.904727+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.502","user_name":"Bryony Thompson","item_type":"entity","text":"STR: PHOX2B_CCHS_GCN was added\nSTR: PHOX2B_CCHS_GCN was added to Fetal anomalies. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.\nMode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833\nPhenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880","entity_name":"PHOX2B_CCHS_GCN","entity_type":"str"},{"created":"2026-01-04T18:41:47.761564+11:00","panel_name":"Central Hypoventilation","panel_id":71,"panel_version":"1.7","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T18:41:47.627948+11:00","panel_name":"Central Hypoventilation","panel_id":71,"panel_version":"1.7","user_name":"Bryony Thompson","item_type":"entity","text":"STR: PHOX2B_CCHS_GCN was added\nSTR: PHOX2B_CCHS_GCN was added to Central Hypoventilation. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.\nMode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833\nPhenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880","entity_name":"PHOX2B_CCHS_GCN","entity_type":"str"},{"created":"2026-01-04T18:38:45.014501+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3952","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR PABPN1_OPMD_GCN from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T18:38:43.982675+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3952","user_name":"Bryony Thompson","item_type":"entity","text":"STR: PABPN1_OPMD_GCN was added\nSTR: PABPN1_OPMD_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list\nadult-onset tags were added to STR: PABPN1_OPMD_GCN.\nMode of inheritance for STR: PABPN1_OPMD_GCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for STR: PABPN1_OPMD_GCN were set to 9462747; 20301305\nPhenotypes for STR: PABPN1_OPMD_GCN were set to Oculopharyngeal muscular dystrophy MIM#164300","entity_name":"PABPN1_OPMD_GCN","entity_type":"str"},{"created":"2026-01-04T18:37:27.369407+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3951","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR NUTM2B-AS1_OPDM_CCG from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T18:37:26.815610+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3951","user_name":"Bryony Thompson","item_type":"entity","text":"STR: NUTM2B-AS1_OPDM_CCG was added\nSTR: NUTM2B-AS1_OPDM_CCG was added to Mendeliome. Sources: Expert Review Green,Literature\nadult-onset tags were added to STR: NUTM2B-AS1_OPDM_CCG.\nMode of inheritance for STR: NUTM2B-AS1_OPDM_CCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NUTM2B-AS1_OPDM_CCG were set to 31332380\nPhenotypes for STR: NUTM2B-AS1_OPDM_CCG were set to Oculopharyngeal myopathy with leukoencephalopathy 1 MIM#618637","entity_name":"NUTM2B-AS1_OPDM_CCG","entity_type":"str"},{"created":"2026-01-04T18:35:49.385986+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3950","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR LRP12_OPDM1_CGG from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T18:35:48.830881+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3950","user_name":"Bryony Thompson","item_type":"entity","text":"STR: LRP12_OPDM1_CGG was added\nSTR: LRP12_OPDM1_CGG was added to Mendeliome. Sources: Expert Review Green,Expert list\nadult-onset tags were added to STR: LRP12_OPDM1_CGG.\nMode of inheritance for STR: LRP12_OPDM1_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: LRP12_OPDM1_CGG were set to 31332380; 34047774; 37339631\nPhenotypes for STR: LRP12_OPDM1_CGG were set to Oculopharyngodistal myopathy 1 MIM#164310; Amyotrophic lateral sclerosis MONDO:0004976","entity_name":"LRP12_OPDM1_CGG","entity_type":"str"},{"created":"2026-01-04T18:32:01.105898+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.372","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR HOXD13_SPD1_GCG from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T18:32:00.897290+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.372","user_name":"Bryony Thompson","item_type":"entity","text":"STR: HOXD13_SPD1_GCG was added\nSTR: HOXD13_SPD1_GCG was added to Skeletal dysplasia. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXD13_SPD1_GCG.\nMode of inheritance for STR: HOXD13_SPD1_GCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXD13_SPD1_GCG were set to 8817328; 33811808; 33533119\nPhenotypes for STR: HOXD13_SPD1_GCG were set to Synpolydactyly 1 MIM#186000","entity_name":"HOXD13_SPD1_GCG","entity_type":"str"},{"created":"2026-01-04T18:31:21.576279+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.299","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR HOXD13_SPD1_GCG from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T18:31:21.422761+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.299","user_name":"Bryony Thompson","item_type":"entity","text":"STR: HOXD13_SPD1_GCG was added\nSTR: HOXD13_SPD1_GCG was added to Polydactyly. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXD13_SPD1_GCG.\nMode of inheritance for STR: HOXD13_SPD1_GCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXD13_SPD1_GCG were set to 8817328; 33811808; 33533119\nPhenotypes for STR: HOXD13_SPD1_GCG were set to Synpolydactyly 1 MIM#186000","entity_name":"HOXD13_SPD1_GCG","entity_type":"str"},{"created":"2026-01-04T18:30:22.484381+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3949","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR HOXD13_SPD1_GCG from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-01-04T18:30:20.080873+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3949","user_name":"Bryony Thompson","item_type":"entity","text":"STR: HOXD13_SPD1_GCG was added\nSTR: HOXD13_SPD1_GCG was added to Mendeliome. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXD13_SPD1_GCG.\nMode of inheritance for STR: HOXD13_SPD1_GCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXD13_SPD1_GCG were set to 8817328; 33811808; 33533119\nPhenotypes for STR: HOXD13_SPD1_GCG were set to Synpolydactyly 1 MIM#186000","entity_name":"HOXD13_SPD1_GCG","entity_type":"str"},{"created":"2026-01-04T18:29:50.689796+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.81","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR HOXD13_SPD1_GCG from panel Repeat Disorders","entity_name":null,"entity_type":null}]}