{"count":220313,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=13","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=11","results":[{"created":"2026-03-26T13:10:54.015920+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.92","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene HFE2 from panel Monogenic Diabetes","entity_name":null,"entity_type":null},{"created":"2026-03-26T13:10:41.675449+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.207","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: HFE2 as Red List (low evidence)","entity_name":"HFE2","entity_type":"gene"},{"created":"2026-03-26T13:10:41.665415+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.207","user_name":"Chirag Patel","item_type":"entity","text":"Gene: hfe2 has been classified as Red List (Low Evidence).","entity_name":"HFE2","entity_type":"gene"},{"created":"2026-03-26T13:10:40.054062+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.206","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: HFE2 as Red List (low evidence)","entity_name":"HFE2","entity_type":"gene"},{"created":"2026-03-26T13:10:40.037000+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.206","user_name":"Chirag Patel","item_type":"entity","text":"Gene: hfe2 has been classified as Red List (Low Evidence).","entity_name":"HFE2","entity_type":"gene"},{"created":"2026-03-26T13:10:31.896131+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.205","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: HFE2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"HFE2","entity_type":"gene"},{"created":"2026-03-26T13:10:04.874145+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.189","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene HFE from panel Monogenic Diabetes","entity_name":null,"entity_type":null},{"created":"2026-03-26T13:10:04.589489+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.91","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene HFE from panel Monogenic Diabetes","entity_name":null,"entity_type":null},{"created":"2026-03-26T13:09:39.752240+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.205","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: HFE as Red List (low evidence)","entity_name":"HFE","entity_type":"gene"},{"created":"2026-03-26T13:09:39.735377+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.205","user_name":"Chirag Patel","item_type":"entity","text":"Gene: hfe has been classified as Red List (Low Evidence).","entity_name":"HFE","entity_type":"gene"},{"created":"2026-03-26T13:09:29.796007+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.204","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: HFE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"HFE","entity_type":"gene"},{"created":"2026-03-26T13:06:06.247397+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.104","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: NSD1 as ready","entity_name":"NSD1","entity_type":"gene"},{"created":"2026-03-26T13:06:06.237554+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.104","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nsd1 has been classified as Amber List (Moderate Evidence).","entity_name":"NSD1","entity_type":"gene"},{"created":"2026-03-26T13:06:02.717548+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.104","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NSD1 as Amber List (moderate evidence)","entity_name":"NSD1","entity_type":"gene"},{"created":"2026-03-26T13:06:02.700914+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.104","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nsd1 has been classified as Amber List (Moderate Evidence).","entity_name":"NSD1","entity_type":"gene"},{"created":"2026-03-26T13:05:58.008459+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.103","user_name":"Chirag Patel","item_type":"entity","text":"gene: NSD1 was added\ngene: NSD1 was added to Congenital hypothyroidism. Sources: Literature\nMode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NSD1 were set to 41024235; 34350334; 15942875\nPhenotypes for gene: NSD1 were set to Sotos syndrome, MONDO:0019349\nReview for gene: NSD1 was set to AMBER\nAdded comment: 3 individuals with Sotos syndrome and heterozygous loss‑of‑function NSD1 variants, with permanent congenital hypothyroidism. Congenital hypothyroidism in Sotos syndrome may be an underreported feature. \nSources: Literature","entity_name":"NSD1","entity_type":"gene"},{"created":"2026-03-26T12:53:59.848675+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4624","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene NNT from panel Congenital hypothyroidism","entity_name":null,"entity_type":null},{"created":"2026-03-26T12:53:41.871567+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.102","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: PMID 34545694 describes 3 unrelated families with 3 heterozygous missense NNT variants that produce permanent congenital hypothyroidism due to thyroid dysgenesis. (p.Ala271Ser, p.Arg693His, p.Val861Met). There is no segregation information and the p.Arg693His variant is common in gnomAD. Functional assays (western blot, measurement of NADPH/NADPtotal and H2O2 generation, cell proliferation, and wounding healing assay) showed damaging effect of the NNT variants on stability and catalytic activity of proteins and redox balance of cells, which might lead to the abnormal development of thyroid gland. \nSources: Literature; to: PMID 34545694 describes 3 unrelated families with 3 heterozygous missense NNT variants that produce permanent congenital hypothyroidism due to thyroid agenesis. (p.Ala271Ser, p.Arg693His, p.Val861Met). There is no segregation information and the p.Arg693His variant is common in gnomAD. Functional assays (western blot, measurement of NADPH/NADPtotal and H2O2 generation, cell proliferation, and wounding healing assay) showed damaging effect of the NNT variants on stability and catalytic activity of proteins and redox balance of cells, which might lead to the abnormal development of thyroid gland. \r\nSources: Literature","entity_name":"NNT","entity_type":"gene"},{"created":"2026-03-26T12:53:23.211755+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.102","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: NNT as ready","entity_name":"NNT","entity_type":"gene"},{"created":"2026-03-26T12:53:23.202933+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.102","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nnt has been classified as Red List (Low Evidence).","entity_name":"NNT","entity_type":"gene"},{"created":"2026-03-26T12:53:20.443867+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.102","user_name":"Chirag Patel","item_type":"entity","text":"gene: NNT was added\ngene: NNT was added to Congenital hypothyroidism. Sources: Literature\nMode of inheritance for gene: NNT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NNT were set to 34545694\nPhenotypes for gene: NNT were set to Congenital hypothyroidism, MONDO:0018612\nReview for gene: NNT was set to RED\nAdded comment: PMID 34545694 describes 3 unrelated families with 3 heterozygous missense NNT variants that produce permanent congenital hypothyroidism due to thyroid dysgenesis. (p.Ala271Ser, p.Arg693His, p.Val861Met). There is no segregation information and the p.Arg693His variant is common in gnomAD. Functional assays (western blot, measurement of NADPH/NADPtotal and H2O2 generation, cell proliferation, and wounding healing assay) showed damaging effect of the NNT variants on stability and catalytic activity of proteins and redox balance of cells, which might lead to the abnormal development of thyroid gland. \nSources: Literature","entity_name":"NNT","entity_type":"gene"},{"created":"2026-03-26T12:24:18.789854+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.83","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region IHH upstream regulatory region from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T12:24:18.711423+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.83","user_name":"Sarah Milton","item_type":"entity","text":"Region: IHH upstream regulatory region was added\nRegion: IHH upstream regulatory region was added to Hand and foot malformations. Sources: Literature\nMode of inheritance for Region: IHH upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: IHH upstream regulatory region were set to PMID: 21167467\nPhenotypes for Region: IHH upstream regulatory region were set to Craniosynostosis, Philadelphia type, with syndactyly, MIM#185900; Syndactyly, type 1, MIM#185900","entity_name":"IHH upstream regulatory region","entity_type":"region"},{"created":"2026-03-26T12:24:15.208618+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.76","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region IHH upstream regulatory region from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T12:24:14.975362+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.76","user_name":"Sarah Milton","item_type":"entity","text":"Region: IHH upstream regulatory region was added\nRegion: IHH upstream regulatory region was added to Craniosynostosis. Sources: Literature\nMode of inheritance for Region: IHH upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: IHH upstream regulatory region were set to PMID: 21167467\nPhenotypes for Region: IHH upstream regulatory region were set to Craniosynostosis, Philadelphia type, with syndactyly, MIM#185900; Syndactyly, type 1, MIM#185900","entity_name":"IHH upstream regulatory region","entity_type":"region"},{"created":"2026-03-26T12:23:14.630847+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4623","user_name":"Sarah Milton","item_type":"entity","text":"Region: IHH upstream regulatory region was added\nRegion: IHH upstream regulatory region was added to Mendeliome. Sources: Literature\nMode of inheritance for Region: IHH upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: IHH upstream regulatory region were set to PMID: 21167467\nPhenotypes for Region: IHH upstream regulatory region were set to Craniosynostosis, Philadelphia type, with syndactyly, MIM#185900; Syndactyly, type 1, MIM#185900\nReview for Region: IHH upstream regulatory region was set to GREEN\nAdded comment: IHH belongs to the hedgehog family, and is required for endochondral bone formation by regulating the proliferation and differentiation of chondrocytes. During development IHH is predominantly expressed in prehypertrophic chondrocytes.\r\n\r\nPMID: 21167467 describes 3 families with over 80 affected individuals with duplications either including IHH or entirely upstream (in an intron of NHEJ1). These individuals were affected with variable degrees of cutaneous and distal osseus syndactyly and craniosynostosis.\r\n\r\nAuthors identified duplications in affected families involving conserved non coding elements (either 1 or up to 3 in those with the largest duplications) and cloned an orthologous region into mouse with a fluorescent reporter vector and found staining of chondrocytes indicating this region was a possible enhancer. \r\n\r\nNote: OMIM uses coordinates chr2:208,200,001-230,100,000 for this duplication (maximal breakpoints). Minimal region overlap from literature used for Panelapp entry. Further functional studies required to define exact breakpoints. \nSources: Literature","entity_name":"IHH upstream regulatory region","entity_type":"region"},{"created":"2026-03-26T12:10:16.852759+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4622","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their review","entity_name":"TUBA4A","entity_type":"gene"},{"created":"2026-03-26T12:09:42.393558+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4622","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBA4A were set to PMID: 38413182","entity_name":"TUBA4A","entity_type":"gene"},{"created":"2026-03-26T12:09:18.297012+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4621","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBA4A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TUBA4A","entity_type":"gene"},{"created":"2026-03-26T12:08:56.929036+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4620","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene TUBA4A from panel Infertility and Recurrent Pregnancy Loss","entity_name":null,"entity_type":null},{"created":"2026-03-26T12:07:39.249162+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4619","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: GBP1 as ready","entity_name":"GBP1","entity_type":"gene"},{"created":"2026-03-26T12:07:39.239408+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4619","user_name":"Chirag Patel","item_type":"entity","text":"Gene: gbp1 has been classified as Amber List (Moderate Evidence).","entity_name":"GBP1","entity_type":"gene"},{"created":"2026-03-26T12:07:38.457139+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4619","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: GBP1 as ready","entity_name":"GBP1","entity_type":"gene"},{"created":"2026-03-26T12:07:38.450362+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4619","user_name":"Chirag Patel","item_type":"entity","text":"Gene: gbp1 has been classified as Amber List (Moderate Evidence).","entity_name":"GBP1","entity_type":"gene"},{"created":"2026-03-26T12:07:20.477415+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.418","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: KYNU as ready","entity_name":"KYNU","entity_type":"gene"},{"created":"2026-03-26T12:07:20.466947+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.418","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kynu has been classified as Green List (High Evidence).","entity_name":"KYNU","entity_type":"gene"},{"created":"2026-03-26T12:07:13.147011+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.418","user_name":"Chirag Patel","item_type":"entity","text":"commented on gene: KYNU","entity_name":"KYNU","entity_type":"gene"},{"created":"2026-03-26T11:58:33.213779+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.418","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene KYNU from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T11:58:33.011813+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.418","user_name":"Chirag Patel","item_type":"entity","text":"gene: KYNU was added\ngene: KYNU was added to Skeletal dysplasia. Sources: Expert Review Green,NHS GMS,Victorian Clinical Genetics Services\nMode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KYNU were set to 17334708; 28792876; 31923704\nPhenotypes for gene: KYNU were set to Hydroxykynureninuria MIM#236800; Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661; Disorders of histidine, tryptophan or lysine metabolism","entity_name":"KYNU","entity_type":"gene"},{"created":"2026-03-26T11:54:40.849085+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4619","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene GBP1 from panel Congenital hypothyroidism","entity_name":null,"entity_type":null},{"created":"2026-03-26T11:54:40.210740+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4619","user_name":"Chirag Patel","item_type":"entity","text":"gene: GBP1 was added\ngene: GBP1 was added to Mendeliome. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: GBP1 was set to Unknown\nPublications for gene: GBP1 were set to 34194003\nPhenotypes for gene: GBP1 were set to Congenital hypothyroidism, MONDO:0018612","entity_name":"GBP1","entity_type":"gene"},{"created":"2026-03-26T11:54:22.046141+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.101","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: GBP1 as ready","entity_name":"GBP1","entity_type":"gene"},{"created":"2026-03-26T11:54:22.039095+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.101","user_name":"Chirag Patel","item_type":"entity","text":"Gene: gbp1 has been classified as Amber List (Moderate Evidence).","entity_name":"GBP1","entity_type":"gene"},{"created":"2026-03-26T11:54:14.761885+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.101","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: GBP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34194003; Phenotypes: Congenital hypothyroidism, MONDO:0018612; Mode of inheritance: Unknown","entity_name":"GBP1","entity_type":"gene"},{"created":"2026-03-26T11:53:51.277757+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.101","user_name":"Chirag Patel","item_type":"entity","text":"Deleted their review","entity_name":"GBP1","entity_type":"gene"},{"created":"2026-03-26T11:53:48.974395+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.101","user_name":"Chirag Patel","item_type":"entity","text":"Deleted their comment","entity_name":"GBP1","entity_type":"gene"},{"created":"2026-03-26T11:53:14.138996+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.101","user_name":"Chirag Patel","item_type":"entity","text":"Mode of inheritance for gene: GBP1 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown","entity_name":"GBP1","entity_type":"gene"},{"created":"2026-03-26T11:52:47.758332+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.100","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: GBP1 as Amber List (moderate evidence)","entity_name":"GBP1","entity_type":"gene"},{"created":"2026-03-26T11:52:47.751198+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.100","user_name":"Chirag Patel","item_type":"entity","text":"Gene: gbp1 has been classified as Amber List (Moderate Evidence).","entity_name":"GBP1","entity_type":"gene"},{"created":"2026-03-26T11:52:43.335383+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.99","user_name":"Chirag Patel","item_type":"entity","text":"gene: GBP1 was added\ngene: GBP1 was added to Congenital hypothyroidism. Sources: Literature\nMode of inheritance for gene: GBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GBP1 were set to 34194003\nPhenotypes for gene: GBP1 were set to Congenital hypothyroidism, MONDO:0018612\nReview for gene: GBP1 was set to AMBER\nAdded comment: PMID 34194003 reports 3 individuals from 3 unrelated families presenting with congenital hypothyroidism (neonatal onset, elevated TSH, low thyroid hormone, thyroid dysgenesis or diffuse hypoechoic thyroid). 1 individual had biallelic variants (p.E336fs and p.H150Y1) with parents as heterozygous unaffected carriers. The other 2 individuals had a heterozygous variant (p.R20X or p.L187P) inherited from an unaffected parent. Methylation-specific PCR and pyrosequencing found the CpG site of GBP1 was hypermethylated in the genomic DNA isolated from the 2 probands compared with their euthyroid parents.\r\n\r\nZebrafish morpholino knockdown of gbp1 causes thyroid primordium malformation and hypothyroidism. The phenotype was rescued by wild‑type human GBP1 mRNA but not by mutant p.H150Y or p.L187P. Human TPC1 thyroid cells expressing mutant GBP1 show mislocalisation, loss of β‑catenin interaction and disrupted adhesion complex formation. \nSources: Literature","entity_name":"GBP1","entity_type":"gene"},{"created":"2026-03-26T11:41:59.604177+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: FOXP3 as ready","entity_name":"FOXP3","entity_type":"gene"},{"created":"2026-03-26T11:41:59.595969+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Gene: foxp3 has been classified as Amber List (Moderate Evidence).","entity_name":"FOXP3","entity_type":"gene"},{"created":"2026-03-26T11:41:55.729455+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FOXP3 as Amber List (moderate evidence)","entity_name":"FOXP3","entity_type":"gene"},{"created":"2026-03-26T11:41:55.723069+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Gene: foxp3 has been classified as Amber List (Moderate Evidence).","entity_name":"FOXP3","entity_type":"gene"},{"created":"2026-03-26T11:41:49.530046+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.97","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: FOXP3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"FOXP3","entity_type":"gene"},{"created":"2026-03-26T11:41:20.131401+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.97","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene FOXP3 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T11:41:20.073685+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.97","user_name":"Chirag Patel","item_type":"entity","text":"gene: FOXP3 was added\ngene: FOXP3 was added to Congenital hypothyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services\ntreatable tags were added to gene: FOXP3.\nMode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: FOXP3 were set to 11295725; 11137993; 33668198; 33614561; 33330291; 32234571\nPhenotypes for gene: FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790","entity_name":"FOXP3","entity_type":"gene"},{"created":"2026-03-26T11:29:01.365539+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.197","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: DNAJC3 as ready","entity_name":"DNAJC3","entity_type":"gene"},{"created":"2026-03-26T11:29:01.352269+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.197","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dnajc3 has been classified as Green List (High Evidence).","entity_name":"DNAJC3","entity_type":"gene"},{"created":"2026-03-26T11:28:40.882690+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.197","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene DNAJC3 from panel Congenital hypothyroidism","entity_name":null,"entity_type":null},{"created":"2026-03-26T11:28:40.594557+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.197","user_name":"Chirag Patel","item_type":"entity","text":"gene: DNAJC3 was added\ngene: DNAJC3 was added to Ataxia. Sources: Expert Review Green,Literature\nMode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJC3 were set to 34654017; 34630333; 33486469; 32738013; 28940199\nPhenotypes for gene: DNAJC3 were set to juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523","entity_name":"DNAJC3","entity_type":"gene"},{"created":"2026-03-26T11:28:01.424492+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.96","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: DNAJC3 as ready","entity_name":"DNAJC3","entity_type":"gene"},{"created":"2026-03-26T11:28:01.409784+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.96","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dnajc3 has been classified as Green List (High Evidence).","entity_name":"DNAJC3","entity_type":"gene"},{"created":"2026-03-26T11:27:58.098069+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.96","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DNAJC3 as Green List (high evidence)","entity_name":"DNAJC3","entity_type":"gene"},{"created":"2026-03-26T11:27:58.063688+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.96","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dnajc3 has been classified as Green List (High Evidence).","entity_name":"DNAJC3","entity_type":"gene"},{"created":"2026-03-26T11:27:53.505965+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.95","user_name":"Chirag Patel","item_type":"entity","text":"gene: DNAJC3 was added\ngene: DNAJC3 was added to Congenital hypothyroidism. Sources: Literature\nMode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJC3 were set to 34654017; 34630333; 33486469; 32738013; 28940199\nPhenotypes for gene: DNAJC3 were set to juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523\nReview for gene: DNAJC3 was set to GREEN\nAdded comment: 14 individuals from 8 unrelated families with biallelic variants in DNAJC3, presenting with congenital/early‑onset hypothyroidism, early‑onset diabetes mellitus, neuropathy, cerebellar ataxia, progressive neurodegeneration, short stature, and sensorineural hearing loss. \nSources: Literature","entity_name":"DNAJC3","entity_type":"gene"},{"created":"2026-03-26T11:15:40.819134+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4618","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: LSM7: Added comment: Addition of publication - GDA remain as AMBER as no new evidence as been reported; Changed publications: 39420558, 35047835; Changed phenotypes: Neurodevelopmental disorder with leukodystrophy and cerebellar atrophy MONDO:0700092","entity_name":"LSM7","entity_type":"gene"},{"created":"2026-03-26T11:03:28.056120+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.90","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: CPE were changed from Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326 to BDV syndrome MONDO:0859150","entity_name":"CPE","entity_type":"gene"},{"created":"2026-03-26T11:03:18.015754+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.89","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: CPE as ready","entity_name":"CPE","entity_type":"gene"},{"created":"2026-03-26T11:03:18.002031+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.89","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cpe has been classified as Green List (High Evidence).","entity_name":"CPE","entity_type":"gene"},{"created":"2026-03-26T11:03:09.912511+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.89","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene CPE from panel Pituitary hormone deficiency","entity_name":null,"entity_type":null},{"created":"2026-03-26T11:02:47.374057+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.188","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene: CPE were set to 26120850; 32936766; 34383079","entity_name":"CPE","entity_type":"gene"},{"created":"2026-03-26T11:02:23.245398+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.187","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: CPE were changed from Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326 to BDV syndrome MONDO:0859150","entity_name":"CPE","entity_type":"gene"},{"created":"2026-03-26T11:02:17.154612+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.186","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: CPE as ready","entity_name":"CPE","entity_type":"gene"},{"created":"2026-03-26T11:02:17.135570+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.186","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cpe has been classified as Green List (High Evidence).","entity_name":"CPE","entity_type":"gene"},{"created":"2026-03-26T11:02:12.346616+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.186","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: CPE: Rating: GREEN; Mode of pathogenicity: None; Publications: 34383079, 26120850,32936766; Phenotypes: BDV syndrome MONDO:0859150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CPE","entity_type":"gene"},{"created":"2026-03-26T11:00:10.376438+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.196","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB3A were changed from autosomal dominant cerebellar ataxia MONDO:0020380 to Spinocerebellar ataxia 52, MIM# 621535","entity_name":"RAB3A","entity_type":"gene"},{"created":"2026-03-26T10:59:49.480603+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.195","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 52, MIM# 621535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAB3A","entity_type":"gene"},{"created":"2026-03-26T10:58:39.650690+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4618","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB3A were changed from autosomal dominant cerebellar ataxia MONDO:0020380; neurodevelopmental disorder MONDO:0700092 to Spinocerebellar ataxia 52, MIM# 621535; neurodevelopmental disorder MONDO:0700092","entity_name":"RAB3A","entity_type":"gene"},{"created":"2026-03-26T10:58:32.840539+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.186","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene CPE from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T10:58:32.776980+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.186","user_name":"Chirag Patel","item_type":"entity","text":"gene: CPE was added\ngene: CPE was added to Pituitary hormone deficiency. Sources: Expert Review Green,Expert Review\nMode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPE were set to 26120850; 32936766; 34383079\nPhenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326","entity_name":"CPE","entity_type":"gene"},{"created":"2026-03-26T10:58:32.524724+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.88","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene CPE from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T10:58:32.464568+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.88","user_name":"Chirag Patel","item_type":"entity","text":"gene: CPE was added\ngene: CPE was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review\nMode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPE were set to 26120850; 32936766; 34383079\nPhenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326","entity_name":"CPE","entity_type":"gene"},{"created":"2026-03-26T10:57:57.649527+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4617","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 52, MIM# 621535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAB3A","entity_type":"gene"},{"created":"2026-03-26T10:51:31.667106+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.94","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene: CDC42 were set to 30872706; 29335451","entity_name":"CDC42","entity_type":"gene"},{"created":"2026-03-26T10:51:17.707537+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.93","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: CDC42 as ready","entity_name":"CDC42","entity_type":"gene"},{"created":"2026-03-26T10:51:17.697547+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.93","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cdc42 has been classified as Amber List (Moderate Evidence).","entity_name":"CDC42","entity_type":"gene"},{"created":"2026-03-26T10:50:49.864041+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.93","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CDC42 as Amber List (moderate evidence)","entity_name":"CDC42","entity_type":"gene"},{"created":"2026-03-26T10:50:49.853994+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.93","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cdc42 has been classified as Amber List (Moderate Evidence).","entity_name":"CDC42","entity_type":"gene"},{"created":"2026-03-26T10:50:44.313303+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.92","user_name":"Chirag Patel","item_type":"entity","text":"gene: CDC42 was added\ngene: CDC42 was added to Congenital hypothyroidism. Sources: Literature\nMode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDC42 were set to 30872706; 29335451\nPhenotypes for gene: CDC42 were set to Congenital hypothyroidism, MONDO:0018612\nReview for gene: CDC42 was set to AMBER\nAdded comment: ClinGen DEFINITIVE for Takenouchi-Kosaki syndrome (Oct 2021).\r\n\r\n3 individuals with Takenouchi-Kosaki syndrome and congenital hypothyroidism. They all had the same rare de novo missense variant in CDC42 (p.Tyr64Cys). C. elegans knock‑in model demonstrated a hypomorphic loss‑of‑function effect. (NB 1 overlapping family between PMID 29335451 and PMID 30872706) \nSources: Literature","entity_name":"CDC42","entity_type":"gene"},{"created":"2026-03-26T10:40:43.575234+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.91","user_name":"Chirag Patel","item_type":"entity","text":"edited their review of gene: DUOX1: Added comment: PMID 31428054: \r\n1 individual with congenital hypothyroidism with heterozygous missense variant in DUOX1 (p.R1307Q). No segregation testing and variant is too common in gnomAD. HeLa cell overexpression of the p.R1307Q mutant showed reduced DUOX1 mRNA, protein and H₂O₂ production.\r\n\r\nPMID 27373559: \r\n1 individual with congenital hypothyroidism with heterozygous missense variant in DUOX1 (p.P219L). No segregation testing and no functional testing, and variant is too common in gnomAD.\r\n\r\nPMID 33631011: \r\n14 individuals with congenital hypothyroidism with DUOX1 variants (13 missense, 1 nonsense), BUT no information on individual phenotypes, segregation data, or functional validation.; Changed rating: RED; Changed publications: 31428054, 27373559, 33631011:; Changed phenotypes: Congenital hypothyroidism, MONDO:0018612; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DUOX1","entity_type":"gene"},{"created":"2026-03-25T19:46:05.287077+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.712","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIM71 as ready","entity_name":"TRIM71","entity_type":"gene"},{"created":"2026-03-25T19:46:05.279900+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.712","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trim71 has been classified as Green List (High Evidence).","entity_name":"TRIM71","entity_type":"gene"},{"created":"2026-03-25T19:05:33.843899+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.712","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRIM71 were set to 29983323; 32168371; 30975633; 40892928","entity_name":"TRIM71","entity_type":"gene"},{"created":"2026-03-25T19:05:01.038652+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.711","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TRIM71: Added comment: PMID 38833623 reports 20 individuals from 13 unrelated families with heterozygous de novo or rare inherited TRIM71 variants (missense, nonsense, splice‑site, frameshift) presenting with congenital hydrocephalus/ventriculomegaly, developmental delay, dysmorphic features, corpus callosum dysgenesis, white‑matter hypoplasia, limb and craniofacial anomalies, hearing and cardiac defects. Functional studies in HEK293T cells show NHL‑domain missense variants impair binding to CDKN1A/EGR1 and disrupt P‑body localization, supporting loss‑of‑function/altered‑function mechanisms.; Changed publications: 40892928, 38833623","entity_name":"TRIM71","entity_type":"gene"},{"created":"2026-03-25T19:03:57.030153+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.711","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene TRIM71 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-25T19:03:56.634736+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.711","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRIM71 was added\ngene: TRIM71 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TRIM71 were set to 29983323; 32168371; 30975633; 40892928\nPhenotypes for gene: TRIM71 were set to Congenital hydrocephalus 4 (MIM#618667)","entity_name":"TRIM71","entity_type":"gene"},{"created":"2026-03-25T19:01:09.637035+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4617","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRIM71 were set to PMID: 29983323; 32168371; 30975633","entity_name":"TRIM71","entity_type":"gene"},{"created":"2026-03-25T19:00:25.301873+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4616","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Reports 3 individuals from 3 unrelated families with heterozygous missense TRIM71 variants (p.Q334R, p.R608H, p.R796H) presenting with childhood‑onset syndromic hearing loss, often accompanied by congenital hydrocephalus, renal cysts, facial dysmorphism and other developmental anomalies. Two individuals (p.Q334R and p.R608H) have detailed clinical work‑up (sensorineural or mixed severe loss, inner ear malformations) and functional assays demonstrate that p.Q334R mis‑localises TRIM71 to P‑bodies and p.R608H disrupts RNA binding. Mouse models with loss‑of‑function or the human HL‑associated missense allele recapitulate severe hearing loss, confirming the pathogenic mechanism as loss‑of‑function of TRIM71.; to: Reports 3 individuals from 3 unrelated families with heterozygous missense TRIM71 variants (p.Q334R, p.R608H, p.R796H) presenting with childhood‑onset syndromic hearing loss, often accompanied by congenital hydrocephalus, renal cysts, facial dysmorphism and other developmental anomalies. Two individuals (p.Q334R and p.R608H) have detailed clinical work‑up (sensorineural or mixed severe loss, inner ear malformations) and functional assays demonstrate that p.Q334R mis‑localises TRIM71 to P‑bodies and p.R608H disrupts RNA binding. Mouse models with loss‑of‑function or the human HL‑associated missense allele recapitulate severe hearing loss, confirming the pathogenic mechanism as loss‑of‑function of TRIM71.\r\n\r\nLikely phenotype expansion.","entity_name":"TRIM71","entity_type":"gene"},{"created":"2026-03-25T19:00:11.203468+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4616","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRIM71: Rating: GREEN; Mode of pathogenicity: None; Publications: 40892928; Phenotypes: Congenital hydrocephalus 4 (MIM#618667); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRIM71","entity_type":"gene"}]}