{"count":220212,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=10","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=8","results":[{"created":"2026-03-26T15:27:11.605343+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.198","user_name":"Chirag Patel","item_type":"entity","text":"Deleted their review","entity_name":"RNPC3","entity_type":"gene"},{"created":"2026-03-26T15:26:29.158695+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.198","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: RNPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37463572, 35792517; Phenotypes: Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RNPC3","entity_type":"gene"},{"created":"2026-03-26T15:24:41.574187+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4629","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: KCNH5 were set to https://www.medrxiv.org/content/10.1101/2022.04.26.22274147v1","entity_name":"KCNH5","entity_type":"gene"},{"created":"2026-03-26T15:17:15.654589+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOCK2 were changed from Inborn error of immunity, MONDO:0003778, DOC2-related to Inborn error of immunity, MONDO:0003778, DOCK2-related","entity_name":"DOCK2","entity_type":"gene"},{"created":"2026-03-26T15:16:52.452500+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DOCK2: Changed phenotypes: Inborn error of immunity, MONDO:0003778, DOCK2-related","entity_name":"DOCK2","entity_type":"gene"},{"created":"2026-03-26T15:16:07.182242+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4628","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOCK2 were changed from Immunodeficiency 40 MIM# 616433; T/B-cell lymphopaenia; early-onset invasive herpes/viral/bacterial Infections; function defects in T/B/NK cells; immunodeficiency; defective IFN-mediated immunity; elevated IgM; normal IgG/IgA levels to Immunodeficiency 40 MIM# 616433; Inborn error of immunity, MONDO:0003778, DOCK2-related","entity_name":"DOCK2","entity_type":"gene"},{"created":"2026-03-26T15:15:43.568691+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4627","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DOCK2 were set to 26083206; 29204803; 33928462; 30826364; 30838481; 11518968","entity_name":"DOCK2","entity_type":"gene"},{"created":"2026-03-26T15:15:18.788395+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4626","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DOCK2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DOCK2","entity_type":"gene"},{"created":"2026-03-26T15:15:03.264315+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4625","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 13 unrelated individuals; two mouse models; 10 biallelic mutations found (6 led to premature termination of the protein & 4 missense mutations affecting conserved residues) All patients presented with combined immunodeficiency in infancy (defective IFN-mediated immunity), early onset of invasive bacterial and viral infections, functional defects in T/B/NK cells and elevated IgM (normal IgG/IgA).; to: Bi-allelic disease: 13 unrelated individuals; two mouse models; 10 biallelic mutations found (6 led to premature termination of the protein & 4 missense mutations affecting conserved residues) All patients presented with combined immunodeficiency in infancy (defective IFN-mediated immunity), early onset of invasive bacterial and viral infections, functional defects in T/B/NK cells and elevated IgM (normal IgG/IgA).","entity_name":"DOCK2","entity_type":"gene"},{"created":"2026-03-26T15:14:49.084368+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4625","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DOCK2: Added comment: PMID 41654261: Six individuals from three unrelated families, aged 3 months to 50 years, reported with one of three heterozygous variants in DOCK2 and severe infections with human papilloma virus, respiratory syncytial virus, or SARS-CoV-2. All variants reside within the DOCK2 domain that binds and stabilizes ELMO1. Each variant reduced DOCK2 protein expression, ELMO1 binding, and DOCK2 function, as shown by diminished Rac1 activation and selective defects in Toll-like receptor signaling. Weekly IFN-α therapy led to complete resolution of refractory warts in one patient, highlighting a potential therapeutic approach for DOCK2-associated immunodeficiency.\r\n\r\nPMID 36836791: Patient with recurrent HLH. Heterozygous c.1334A>G (p.Asn445Ser) variant. Functional studies showing lower CD107a expression and diminished NK degranulation and cytotoxicity. ? partial dominant negative.; Changed publications: 26083206, 29204803, 33928462, 30826364, 30838481, 11518968, 41654261, 36836791; Changed phenotypes: Immunodeficiency 40 MIM# 616433, Inborn error of immunity, MONDO:0003778, DOCK2-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DOCK2","entity_type":"gene"},{"created":"2026-03-26T15:10:23.599706+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOCK2 as ready","entity_name":"DOCK2","entity_type":"gene"},{"created":"2026-03-26T15:10:23.589647+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dock2 has been classified as Green List (High Evidence).","entity_name":"DOCK2","entity_type":"gene"},{"created":"2026-03-26T15:10:19.222706+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DOCK2 as Green List (high evidence)","entity_name":"DOCK2","entity_type":"gene"},{"created":"2026-03-26T15:10:19.215527+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dock2 has been classified as Green List (High Evidence).","entity_name":"DOCK2","entity_type":"gene"},{"created":"2026-03-26T14:47:03.387744+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.99","user_name":"Chirag Patel","item_type":"entity","text":"Deleted their comment","entity_name":"PROKR2","entity_type":"gene"},{"created":"2026-03-26T14:46:52.163470+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.198","user_name":"Chirag Patel","item_type":"entity","text":"Deleted their comment","entity_name":"PROKR2","entity_type":"gene"},{"created":"2026-03-26T14:46:06.080672+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.107","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene: POMC were set to 33666293","entity_name":"POMC","entity_type":"gene"},{"created":"2026-03-26T14:45:44.289302+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.198","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene: POMC were set to 33666293","entity_name":"POMC","entity_type":"gene"},{"created":"2026-03-26T14:45:35.569898+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.197","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: POMC as ready","entity_name":"POMC","entity_type":"gene"},{"created":"2026-03-26T14:45:35.559954+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.197","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pomc has been classified as Green List (High Evidence).","entity_name":"POMC","entity_type":"gene"},{"created":"2026-03-26T14:45:30.975716+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.197","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: None; Publications: 40513101, 34177811, 29858905; Phenotypes: Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMC","entity_type":"gene"},{"created":"2026-03-26T14:44:55.519221+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.106","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: POMC as ready","entity_name":"POMC","entity_type":"gene"},{"created":"2026-03-26T14:44:55.508497+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.106","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pomc has been classified as Green List (High Evidence).","entity_name":"POMC","entity_type":"gene"},{"created":"2026-03-26T14:44:48.105086+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.106","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: None; Publications: 40513101, 34177811, 29858905; Phenotypes: Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMC","entity_type":"gene"},{"created":"2026-03-26T14:35:35.997770+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.197","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene POMC from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T14:35:35.908579+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.197","user_name":"Chirag Patel","item_type":"entity","text":"gene: POMC was added\ngene: POMC was added to Pituitary hormone deficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POMC were set to 33666293\nPhenotypes for gene: POMC were set to Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734","entity_name":"POMC","entity_type":"gene"},{"created":"2026-03-26T14:35:35.665285+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.106","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene POMC from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T14:35:35.549408+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.106","user_name":"Chirag Patel","item_type":"entity","text":"gene: POMC was added\ngene: POMC was added to Congenital hypothyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POMC were set to 33666293\nPhenotypes for gene: POMC were set to Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734","entity_name":"POMC","entity_type":"gene"},{"created":"2026-03-26T14:31:15.356003+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DOCK2 was added\ngene: DOCK2 was added to Susceptibility to Viral Infections. Sources: Literature\nMode of inheritance for gene: DOCK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DOCK2 were set to 41654261\nPhenotypes for gene: DOCK2 were set to Inborn error of immunity, MONDO:0003778, DOC2-related\nReview for gene: DOCK2 was set to GREEN\nAdded comment: Six individuals from three unrelated families, aged 3 months to 50 years, reported with one of three heterozygous variants in DOCK2 and severe infections with human papilloma virus, respiratory syncytial virus, or SARS-CoV-2. All variants reside within the DOCK2 domain that binds and stabilizes ELMO1. Each variant reduced DOCK2 protein expression, ELMO1 binding, and DOCK2 function, as shown by diminished Rac1 activation and selective defects in Toll-like receptor signaling. Weekly IFN-α therapy led to complete resolution of refractory warts in one patient, highlighting a potential therapeutic approach for DOCK2-associated immunodeficiency. \nSources: Literature","entity_name":"DOCK2","entity_type":"gene"},{"created":"2026-03-26T14:24:39.012729+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.420","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: POC1A as ready","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:24:39.001243+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.420","user_name":"Chirag Patel","item_type":"entity","text":"Gene: poc1a has been classified as Green List (High Evidence).","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:24:38.653012+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.420","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: POC1A were changed from Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 to Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:24:20.530052+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.420","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: POC1A were changed from Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 to Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:24:05.940051+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.420","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: POC1A were changed from Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 to Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:23:46.133248+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.420","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: POC1A were changed from Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 to Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:23:24.717085+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.420","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: POC1A were changed from Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 to Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:23:11.756643+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.419","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: POC1A were changed from Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813; Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis\t614813 to Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:22:56.867963+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.419","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene: POC1A were set to 22840364; 22840363; 26374189; 26162852; 26791357; 39662966","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:22:38.118909+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.419","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene: POC1A were set to 26374189; 26162852; 26336158","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:21:55.734108+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.418","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: POC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 39662966; Phenotypes: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:17:24.047402+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.717","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: POC1A were changed from Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 to Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:16:23.834122+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.716","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene: POC1A were set to ","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:16:04.581986+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.715","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: POC1A were changed from Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 to Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:15:51.297347+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.715","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: POC1A were changed from Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 to Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:15:32.202293+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.715","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: POC1A were changed from Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 to Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:15:13.214178+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.715","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: POC1A were changed from Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813 to Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:14:53.550304+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.714","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: POC1A as Green List (high evidence)","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:14:53.540852+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.714","user_name":"Chirag Patel","item_type":"entity","text":"Gene: poc1a has been classified as Green List (High Evidence).","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:14:49.405259+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.84","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region PITX1 upstream regulatory region from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T14:14:49.306182+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.84","user_name":"Sarah Milton","item_type":"entity","text":"Region: PITX1 upstream regulatory region was added\nRegion: PITX1 upstream regulatory region was added to Hand and foot malformations. Sources: Literature\nMode of inheritance for Region: PITX1 upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: PITX1 upstream regulatory region were set to PMID: 30711920; 23022097; 25124102; 23587911\nPhenotypes for Region: PITX1 upstream regulatory region were set to Liebenberg syndrome, MIM#186550","entity_name":"PITX1 upstream regulatory region","entity_type":"region"},{"created":"2026-03-26T14:14:39.978772+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.714","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: POC1A as Green List (high evidence)","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:14:39.951747+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.714","user_name":"Chirag Patel","item_type":"entity","text":"Gene: poc1a has been classified as Green List (High Evidence).","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:14:19.089548+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.713","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: POC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 39662966; Phenotypes: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:13:52.414704+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4625","user_name":"Sarah Milton","item_type":"entity","text":"Region: PITX1 upstream regulatory region was added\nRegion: PITX1 upstream regulatory region was added to Mendeliome. Sources: Literature\nMode of inheritance for Region: PITX1 upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: PITX1 upstream regulatory region were set to PMID: 30711920; 23022097; 25124102; 23587911\nPhenotypes for Region: PITX1 upstream regulatory region were set to Liebenberg syndrome, MIM#186550\nReview for Region: PITX1 upstream regulatory region was set to GREEN\nAdded comment: PITX1 is a transcription factor expressed solely in the hindlimb during limb development where it ensures proper outgrowth and patterning of this tissue. \r\n\r\nOver 25 individuals have been reported in the literature with deletions upstream of PITX1 presenting with Liebenberg syndrome characterised by dysplastic elbow joints and the fusion of wrist bones and the consequent radial deviation. With upper limb features resembling some of those seen in the lower limb. \r\n\r\nThe deletions seen in affected individuals range from 8kb to 134kb in size and are thought to result in overexpression of PITX1 by affecting the proximity between the coding sequence and an upstream enhancer (referred to variably as 'Pen' or 'hs1473').\r\nThe deletion removes part of a different protein coding gene - MACROH2A1 which is not thought to contribute to the pathogenesis (knockout mice do not present with a similar phenotype to Liebenberg).  \r\nAuthors of PMID: 30711920 suggest the promoter of MACROH2A1 acts as an insulator between the upstream enhancer and PITX1 however further functional studies are required to establish this. \r\n\r\nFunctional studies involving transgenic mice with the enhancer element just upstream of PITX1 resulting in a similar phenotype to affected individuals. \r\n\r\nNote: Maximal reported deletion coordinates at time of writing: chr5:135288912-135423802\r\nMinimum: chr5:135393716-135402219: \nSources: Literature","entity_name":"PITX1 upstream regulatory region","entity_type":"region"},{"created":"2026-03-26T14:10:58.100124+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.213","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene: POC1A were set to 22840364; 22840363; 26374189; 26162852; 26791357","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:10:51.689228+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.212","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: POC1A were changed from Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813 to Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:10:38.656322+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.211","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: POC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 39662966; Phenotypes: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:07:36.598878+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.211","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene POC1A from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T14:07:36.512155+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.211","user_name":"Chirag Patel","item_type":"entity","text":"gene: POC1A was added\ngene: POC1A was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POC1A were set to 22840364; 22840363; 26374189; 26162852; 26791357\nPhenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813","entity_name":"POC1A","entity_type":"gene"},{"created":"2026-03-26T14:07:33.558467+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.713","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene POC1A from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T14:00:10.735216+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.196","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: PCSK1 as ready","entity_name":"PCSK1","entity_type":"gene"},{"created":"2026-03-26T14:00:10.722988+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.196","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pcsk1 has been classified as Green List (High Evidence).","entity_name":"PCSK1","entity_type":"gene"},{"created":"2026-03-26T13:59:55.634484+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.99","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: PCSK1 as ready","entity_name":"PCSK1","entity_type":"gene"},{"created":"2026-03-26T13:59:55.624724+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.99","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pcsk1 has been classified as Green List (High Evidence).","entity_name":"PCSK1","entity_type":"gene"},{"created":"2026-03-26T13:57:27.820212+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.196","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene PCSK1 from panel Adrenal insufficiency","entity_name":null,"entity_type":null},{"created":"2026-03-26T13:57:27.755302+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.196","user_name":"Chirag Patel","item_type":"entity","text":"gene: PCSK1 was added\ngene: PCSK1 was added to Pituitary hormone deficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services\nMode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCSK1 were set to 30383237\nPhenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing MIM#600955","entity_name":"PCSK1","entity_type":"gene"},{"created":"2026-03-26T13:57:27.488449+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.99","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene PCSK1 from panel Adrenal insufficiency","entity_name":null,"entity_type":null},{"created":"2026-03-26T13:57:27.424790+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.99","user_name":"Chirag Patel","item_type":"entity","text":"gene: PCSK1 was added\ngene: PCSK1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services\nMode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCSK1 were set to 30383237\nPhenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing MIM#600955","entity_name":"PCSK1","entity_type":"gene"},{"created":"2026-03-26T13:56:58.242319+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.76","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: adrenal insufficiency seen in condition; to: Various endocrine disorders present as disease progresses, including GH deficiency (44%), mild central hypothyroidism (56%), central hypogonadism (44%), central hypocortisolism (57%), and postprandial hypoglycemia (52%). ","entity_name":"PCSK1","entity_type":"gene"},{"created":"2026-03-26T13:53:38.692908+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.105","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: NUDCD2 as ready","entity_name":"NUDCD2","entity_type":"gene"},{"created":"2026-03-26T13:53:38.682382+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.105","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nudcd2 has been classified as Amber List (Moderate Evidence).","entity_name":"NUDCD2","entity_type":"gene"},{"created":"2026-03-26T13:53:27.114103+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"1.9","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: NUDCD2 as ready","entity_name":"NUDCD2","entity_type":"gene"},{"created":"2026-03-26T13:53:27.099719+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"1.9","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nudcd2 has been classified as Amber List (Moderate Evidence).","entity_name":"NUDCD2","entity_type":"gene"},{"created":"2026-03-26T13:53:20.263963+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.99","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: NUDCD2 as ready","entity_name":"NUDCD2","entity_type":"gene"},{"created":"2026-03-26T13:53:20.256397+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.99","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nudcd2 has been classified as Amber List (Moderate Evidence).","entity_name":"NUDCD2","entity_type":"gene"},{"created":"2026-03-26T13:34:23.212501+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.546","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene NUDCD2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T13:34:19.895346+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.105","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene NUDCD2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T13:34:19.821859+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.105","user_name":"Chirag Patel","item_type":"entity","text":"gene: NUDCD2 was added\ngene: NUDCD2 was added to Congenital hypothyroidism. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: NUDCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUDCD2 were set to 37272762\nPhenotypes for gene: NUDCD2 were set to Multiple congenital anomalies (MONDO:0019042), NUDCD2-related\nPenetrance for gene: NUDCD2 were set to unknown","entity_name":"NUDCD2","entity_type":"gene"},{"created":"2026-03-26T13:34:19.663609+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"1.9","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene NUDCD2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T13:34:19.233772+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"1.9","user_name":"Chirag Patel","item_type":"entity","text":"gene: NUDCD2 was added\ngene: NUDCD2 was added to Cholestasis. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: NUDCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUDCD2 were set to 37272762\nPhenotypes for gene: NUDCD2 were set to Multiple congenital anomalies (MONDO:0019042), NUDCD2-related\nPenetrance for gene: NUDCD2 were set to unknown","entity_name":"NUDCD2","entity_type":"gene"},{"created":"2026-03-26T13:33:39.762344+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.99","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene NUDCD2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-26T13:33:39.195501+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.99","user_name":"Chirag Patel","item_type":"entity","text":"gene: NUDCD2 was added\ngene: NUDCD2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: NUDCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUDCD2 were set to 37272762\nPhenotypes for gene: NUDCD2 were set to Multiple congenital anomalies (MONDO:0019042), NUDCD2-related\nPenetrance for gene: NUDCD2 were set to unknown","entity_name":"NUDCD2","entity_type":"gene"},{"created":"2026-03-26T13:32:20.467195+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4624","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: NUDCD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 37272762; Phenotypes: Multiple congenital anomalies (MONDO:0019042), NUDCD2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NUDCD2","entity_type":"gene"},{"created":"2026-03-26T13:24:49.693546+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: POLR3A as ready","entity_name":"POLR3A","entity_type":"gene"},{"created":"2026-03-26T13:24:49.685518+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Gene: polr3a has been classified as Green List (High Evidence).","entity_name":"POLR3A","entity_type":"gene"},{"created":"2026-03-26T13:24:45.229753+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: PNPLA6 as ready","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2026-03-26T13:24:45.222685+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pnpla6 has been classified as Green List (High Evidence).","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2026-03-26T13:24:39.926421+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: PLXNA3 as ready","entity_name":"PLXNA3","entity_type":"gene"},{"created":"2026-03-26T13:24:39.904473+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Gene: plxna3 has been classified as Green List (High Evidence).","entity_name":"PLXNA3","entity_type":"gene"},{"created":"2026-03-26T13:24:36.093023+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: OTX2 as ready","entity_name":"OTX2","entity_type":"gene"},{"created":"2026-03-26T13:24:36.083413+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Gene: otx2 has been classified as Green List (High Evidence).","entity_name":"OTX2","entity_type":"gene"},{"created":"2026-03-26T13:24:31.472996+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: NR0B1 as ready","entity_name":"NR0B1","entity_type":"gene"},{"created":"2026-03-26T13:24:31.450512+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nr0b1 has been classified as Green List (High Evidence).","entity_name":"NR0B1","entity_type":"gene"},{"created":"2026-03-26T13:24:27.537931+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: NOS1 as ready","entity_name":"NOS1","entity_type":"gene"},{"created":"2026-03-26T13:24:27.530692+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nos1 has been classified as Green List (High Evidence).","entity_name":"NOS1","entity_type":"gene"},{"created":"2026-03-26T13:24:23.873102+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: LHX4 as ready","entity_name":"LHX4","entity_type":"gene"},{"created":"2026-03-26T13:24:23.863617+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Gene: lhx4 has been classified as Green List (High Evidence).","entity_name":"LHX4","entity_type":"gene"},{"created":"2026-03-26T13:24:20.948461+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: LHX3 as ready","entity_name":"LHX3","entity_type":"gene"},{"created":"2026-03-26T13:24:20.938668+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Gene: lhx3 has been classified as Green List (High Evidence).","entity_name":"LHX3","entity_type":"gene"},{"created":"2026-03-26T13:24:17.137077+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: LHB as ready","entity_name":"LHB","entity_type":"gene"}]}