{"count":220505,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=109","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=107","results":[{"created":"2025-11-28T15:07:20.962381+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.292","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: H3F3A were changed from Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720 to Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720","entity_name":"H3F3A","entity_type":"gene"},{"created":"2025-11-28T15:06:44.050709+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.598","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: H3F3A were changed from Intellectual disability; regression; seizures to Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720","entity_name":"H3F3A","entity_type":"gene"},{"created":"2025-11-28T15:06:41.625286+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.463","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: H3F3A were changed from Intellectual disability; regression; seizures to Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720","entity_name":"H3F3A","entity_type":"gene"},{"created":"2025-11-28T15:06:37.615721+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.291","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: H3F3A were changed from Intellectual disability; regression; seizures to Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720","entity_name":"H3F3A","entity_type":"gene"},{"created":"2025-11-28T15:05:32.494014+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3716","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: H3F3A were changed from Intellectual disability; regression; seizures to Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720","entity_name":"H3F3A","entity_type":"gene"},{"created":"2025-11-28T14:57:51.619722+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3715","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GUCY2D were changed from Cone-rod dystrophy 6, MIM# 601777; Leber congenital amaurosis 1, MIM# 204000; Night blindness, congenital stationary, type 1I, MIM# 618555 to GUCY2D-related dominant retinopathy MONDO:0100441; GUCY2D-related recessive retinopathy MONDO:0100453","entity_name":"GUCY2D","entity_type":"gene"},{"created":"2025-11-28T14:57:19.039356+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3714","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: GUCY2D: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: GUCY2D-related dominant retinopathy MONDO:0100441, GUCY2D-related recessive retinopathy MONDO:0100453; Mode of inheritance: None","entity_name":"GUCY2D","entity_type":"gene"},{"created":"2025-11-28T14:51:05.309914+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3714","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GSS were changed from Glutathione synthetase deficiency MIM#266130; Hemolytic anemia due to glutathione synthetase deficiency MIM#231900; Disorders of the gamma-glutamyl cycle to inherited glutathione synthetase deficiency MONDO:0017909; Glutathione synthetase deficiency MIM#266130; Hemolytic anemia due to glutathione synthetase deficiency MIM#231900","entity_name":"GSS","entity_type":"gene"},{"created":"2025-11-28T14:49:44.763480+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.462","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GSPT2 were changed from Intellectual disability MONDO:0001071, GSPT2-related to Intellectual disability MONDO:0001071, GSPT2-related","entity_name":"GSPT2","entity_type":"gene"},{"created":"2025-11-28T14:49:11.702811+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.461","user_name":"Lucy Spencer","item_type":"entity","text":"Mode of inheritance for gene: GSPT2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"GSPT2","entity_type":"gene"},{"created":"2025-11-28T14:48:44.407588+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.460","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GSPT2 were changed from  to Intellectual disability MONDO:0001071, GSPT2-related","entity_name":"GSPT2","entity_type":"gene"},{"created":"2025-11-28T14:48:27.156628+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.460","user_name":"Lucy Spencer","item_type":"entity","text":"Mode of inheritance for gene: GSPT2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"GSPT2","entity_type":"gene"},{"created":"2025-11-28T14:48:21.385491+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.476","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GSPT2 were changed from XL intellectual disability to Intellectual disability MONDO:0001071, GSPT2-related","entity_name":"GSPT2","entity_type":"gene"},{"created":"2025-11-28T14:47:28.308097+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3713","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GSPT2 were changed from Intellectual disability to Intellectual disability MONDO:0001071, GSPT2-related","entity_name":"GSPT2","entity_type":"gene"},{"created":"2025-11-28T14:41:54.481957+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.459","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GRIN2B were changed from Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139 to GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Developmental and epileptic encephalopathy 27 MIM#616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2025-11-28T14:41:52.275946+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.475","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GRIN2B were changed from Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139 to GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Developmental and epileptic encephalopathy 27 MIM#616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2025-11-28T14:41:45.642743+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.290","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GRIN2B were changed from Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139 to GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Developmental and epileptic encephalopathy 27 MIM#616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2025-11-28T14:41:11.867386+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.231","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GRIN2B were changed from Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139 to GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Developmental and epileptic encephalopathy 27 MIM#616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2025-11-28T14:41:09.296380+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.403","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GRIN2B were changed from Cerebral Palsy; Developmental and epileptic encephalopathy 27 MIM# 616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM# 613970 to GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Developmental and epileptic encephalopathy 27 MIM#616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2025-11-28T14:41:05.500351+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"1.14","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GRIN2B were changed from Mental retardation, autosomal dominant 6, MIM#\t613970; Developmental and epileptic encephalopathy 27, MIM#\t616139 to GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Developmental and epileptic encephalopathy 27 MIM#616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2025-11-28T14:40:42.404844+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.202","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GRIN2B were changed from GRIN2B-related neurodevelopmental disorder; Mental retardation, autosomal dominant 6, MIM# 613970 to GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Developmental and epileptic encephalopathy 27 MIM#616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2025-11-28T14:39:50.256769+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3712","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GRIN2B were changed from Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139 to GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Developmental and epileptic encephalopathy 27 MIM#616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2025-11-28T14:38:54.527978+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3711","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: GRIN2B: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Mode of inheritance: None","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2025-11-28T14:35:33.897726+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3711","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GRIN1 were changed from Developmental and epileptic encephalopathy 101, MIM#\t619814; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 to GRIN1-related complex neurodevelopmental disorder MONDO:1060123; Developmental and epileptic encephalopathy 101, MIM#\t619814; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820","entity_name":"GRIN1","entity_type":"gene"},{"created":"2025-11-28T14:35:04.943828+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3710","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: GRIN1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: GRIN1-related complex neurodevelopmental disorder MONDO:1060123; Mode of inheritance: None","entity_name":"GRIN1","entity_type":"gene"},{"created":"2025-11-28T14:30:59.451190+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.458","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6 MIM# 611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580 to Intellectual developmental disorder, autosomal recessive 6 MIM#611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures MIM#619580","entity_name":"GRIK2","entity_type":"gene"},{"created":"2025-11-28T14:30:59.442209+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.289","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6 MIM# 611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580 to Intellectual developmental disorder, autosomal recessive 6 MIM#611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures MIM#619580","entity_name":"GRIK2","entity_type":"gene"},{"created":"2025-11-28T14:30:07.108109+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3710","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6 MIM# 611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580 to Intellectual developmental disorder, autosomal recessive 6 MIM#611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures MIM#619580","entity_name":"GRIK2","entity_type":"gene"},{"created":"2025-11-28T14:16:15.643629+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.79","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GPR161 were changed from No OMIM number; pituitary stalk interruption syndrome to Pituitary stalk interruption syndrome MONDO:0019828, GPR161-related","entity_name":"GPR161","entity_type":"gene"},{"created":"2025-11-28T14:15:20.371714+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3709","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GPR161 were changed from Predisposition to paediatric medulloblastoma to Medulloblastoma predisposition syndrome MIM#155255","entity_name":"GPR161","entity_type":"gene"},{"created":"2025-11-28T14:13:46.094579+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.84","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GPR161 were changed from Pituitary stalk interruption syndrome to Pituitary stalk interruption syndrome MONDO:0019828, GPR161-related","entity_name":"GPR161","entity_type":"gene"},{"created":"2025-11-28T14:11:19.600251+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.23","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GPR143 were changed from Ocular albinism, type I, Nettleship-Falls type, MIM# 300500; MONDO:0021019; Nystagmus 6, congenital, X-linked, MIM# 300814 to GPR143-related foveal hypoplasia MONDO:0700230; congenital nystagmus 6, MIM# 300814; Ocular albinism, type I, Nettleship-Falls type, MIM# 300500","entity_name":"GPR143","entity_type":"gene"},{"created":"2025-11-28T14:11:17.323375+11:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"1.12","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GPR143 were changed from Ocular albinism, type I, Nettleship-Falls type, MIM# 300500; MONDO:0021019 to GPR143-related foveal hypoplasia MONDO:0700230; congenital nystagmus 6, MIM# 300814; Ocular albinism, type I, Nettleship-Falls type, MIM# 300500","entity_name":"GPR143","entity_type":"gene"},{"created":"2025-11-28T14:11:16.333999+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3708","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GPR143 were changed from GPR143-related foveal hypoplasia MONDO:0700230; congenital nystagmus 6, MIM 300814; type I ocular albinism, Nettleship-Falls type, MIM 300500 to GPR143-related foveal hypoplasia MONDO:0700230; congenital nystagmus 6, MIM# 300814; Ocular albinism, type I, Nettleship-Falls type, MIM# 300500","entity_name":"GPR143","entity_type":"gene"},{"created":"2025-11-28T14:08:36.313761+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3707","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GPR143 were changed from congenital nystagmus 6, MIM 300814; type I ocular albinism, Nettleship-Falls type, MIM 300500 to GPR143-related foveal hypoplasia MONDO:0700230; congenital nystagmus 6, MIM 300814; type I ocular albinism, Nettleship-Falls type, MIM 300500","entity_name":"GPR143","entity_type":"gene"},{"created":"2025-11-28T14:08:09.894145+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3706","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: GPR143: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: GPR143-related foveal hypoplasia MONDO:0700230; Mode of inheritance: None","entity_name":"GPR143","entity_type":"gene"},{"created":"2025-11-28T13:52:07.371248+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.108","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOCK6 as ready","entity_name":"DOCK6","entity_type":"gene"},{"created":"2025-11-28T13:52:07.358081+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dock6 has been classified as Green List (High Evidence).","entity_name":"DOCK6","entity_type":"gene"},{"created":"2025-11-28T13:52:01.674748+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.108","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DOCK6 as Green List (high evidence)","entity_name":"DOCK6","entity_type":"gene"},{"created":"2025-11-28T13:52:01.664369+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dock6 has been classified as Green List (High Evidence).","entity_name":"DOCK6","entity_type":"gene"},{"created":"2025-11-28T13:51:30.424330+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.107","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DOCK6 was added\ngene: DOCK6 was added to Brain Calcification. Sources: Literature\nMode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DOCK6 were set to 28884918; 40481473; 30111349\nPhenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2 MIM#614219\nReview for gene: DOCK6 was set to GREEN\nAdded comment: PMID 28884918 and PMID 40481473 report 2 individuals from 2 unrelated families with autosomal recessive loss‑of‑function DOCK6 variants causing Adams‑Oliver syndrome type 2; the latter case includes prenatal ventriculomegaly, paraventricular calcifications, thin corpus callosum and ventricular septal defect. PMID 30111349 reports an individual with biallelic DOCK6 variants presenting as an atypical Aicardi–Goutières‑like syndrome with cerebral calcifications. \nSources: Literature","entity_name":"DOCK6","entity_type":"gene"},{"created":"2025-11-28T13:50:41.560520+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3706","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GOLGA3 were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia MONDO:0016575, GOLGA3-related","entity_name":"GOLGA3","entity_type":"gene"},{"created":"2025-11-28T13:50:41.149794+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.67","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GOLGA3 were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia MONDO:0016575, GOLGA3-related","entity_name":"GOLGA3","entity_type":"gene"},{"created":"2025-11-28T13:47:25.185488+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.474","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta MIM#252500; Mucolipidosis III alpha/beta MIM#252600 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; Mucolipidosis III alpha/beta, MIM# 252600","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2025-11-28T13:47:07.521025+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3705","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GNPTAB were changed from GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600; MONDO:0018931 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; Mucolipidosis III alpha/beta, MIM# 252600","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2025-11-28T13:47:04.110441+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.360","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GNPTAB were changed from Mucolipidosis III alpha/beta 252600; Mucolipidosis II alpha/beta 252500 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; Mucolipidosis III alpha/beta, MIM# 252600","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2025-11-28T13:46:48.753609+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.24","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta, MIM# 252500; MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600; MONDO:0018931 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; Mucolipidosis III alpha/beta, MIM# 252600","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2025-11-28T13:46:06.120994+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.73","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta(I cell disease), MIM# 252500 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; Mucolipidosis III alpha/beta, MIM# 252600","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2025-11-28T13:45:51.612456+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.242","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GNPTAB were changed from GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; Mucolipidosis III alpha/beta, MIM# 252600 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2025-11-28T13:45:16.023697+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.241","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta - MIM#252500 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; Mucolipidosis III alpha/beta, MIM# 252600","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2025-11-28T13:43:00.054025+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3704","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta, MIM# 252500; MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600; MONDO:0018931 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600; MONDO:0018931","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2025-11-28T13:42:35.676068+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3703","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: GNPTAB: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: GNPTAB-mucolipidosis MONDO:0100122; Mode of inheritance: None","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2025-11-28T13:40:19.095176+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.106","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene CSF1R from panel Regression","entity_name":null,"entity_type":null},{"created":"2025-11-28T13:40:18.813929+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.106","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CSF1R was added\ngene: CSF1R was added to Brain Calcification. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSF1R were set to 30982609; 33749994; 34135456\nPhenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS","entity_name":"CSF1R","entity_type":"gene"},{"created":"2025-11-28T13:35:53.559598+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.473","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GNB5 were changed from Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE) to gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953; Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173); Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)","entity_name":"GNB5","entity_type":"gene"},{"created":"2025-11-28T13:35:41.736775+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.457","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GNB5 were changed from Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE) to gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953; Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173); Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)","entity_name":"GNB5","entity_type":"gene"},{"created":"2025-11-28T13:35:17.856693+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.288","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GNB5 were changed from Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE) to gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953; Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173); Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)","entity_name":"GNB5","entity_type":"gene"},{"created":"2025-11-28T13:33:53.327783+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3703","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GNB5 were changed from Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE) to gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953; Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173); Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)","entity_name":"GNB5","entity_type":"gene"},{"created":"2025-11-28T13:32:10.418223+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3702","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: GNB5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953; Mode of inheritance: None","entity_name":"GNB5","entity_type":"gene"},{"created":"2025-11-28T13:20:42.183763+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.105","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C1QA as ready","entity_name":"C1QA","entity_type":"gene"},{"created":"2025-11-28T13:20:42.175877+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c1qa has been classified as Green List (High Evidence).","entity_name":"C1QA","entity_type":"gene"},{"created":"2025-11-28T13:20:21.560976+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.105","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Brain calcification can be a feature, see PMID 23651859.","entity_name":"C1QA","entity_type":"gene"},{"created":"2025-11-28T13:17:19.152085+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3702","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352) to Myopathy caused by variation in GMPPB MONDO:0700084; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)","entity_name":"GMPPB","entity_type":"gene"},{"created":"2025-11-28T13:14:20.358937+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.105","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene C1QA from panel Complement Deficiencies","entity_name":null,"entity_type":null},{"created":"2025-11-28T13:14:20.122650+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.105","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C1QA was added\ngene: C1QA was added to Brain Calcification. Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services\nMode of inheritance for gene: C1QA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C1QA were set to 9225968; 21654842; 9590289\nPhenotypes for gene: C1QA were set to C1q deficiency, MIM# 613652","entity_name":"C1QA","entity_type":"gene"},{"created":"2025-11-28T13:14:00.132240+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.104","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 3 newborns from 2 unrelated families who died neontally, presenting in utero with fetal hydrops, seizures and polyhydramnios. At birth they had arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic LOF variants in ATP1A2 were found on WES. Mouse model is perinatal lethal. Note mono allelic variants in this gene cause alternating hemiplegia/migraine phenotypes. \r\nSources: Expert list; to: 3 newborns from 2 unrelated families who died neontally, presenting in utero with fetal hydrops, seizures and polyhydramnios. At birth they had arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic LOF variants in ATP1A2 were found on WES. Mouse model is perinatal lethal. Note mono allelic variants in this gene cause alternating hemiplegia/migraine phenotypes.\r\n\r\nMeningeal arterial calcifications are a feature.\r\n\r\nSources: Expert list","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2025-11-28T13:12:52.465743+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.104","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene ATP1A2 from panel Arthrogryposis","entity_name":null,"entity_type":null},{"created":"2025-11-28T13:12:52.217348+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.104","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP1A2 was added\ngene: ATP1A2 was added to Brain Calcification. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP1A2 were set to 30690204\nPhenotypes for gene: ATP1A2 were set to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; hydrops; arthrogryposis; microcephaly; malformations of cortical development; dysmorphic features; severe respiratory insufficiency","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2025-11-28T13:08:34.842456+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.103","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALPK1 as ready","entity_name":"ALPK1","entity_type":"gene"},{"created":"2025-11-28T13:08:34.835693+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.103","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpk1 has been classified as Green List (High Evidence).","entity_name":"ALPK1","entity_type":"gene"},{"created":"2025-11-28T13:08:19.439282+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.103","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALPK1 as Green List (high evidence)","entity_name":"ALPK1","entity_type":"gene"},{"created":"2025-11-28T13:08:19.429168+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.103","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpk1 has been classified as Green List (High Evidence).","entity_name":"ALPK1","entity_type":"gene"},{"created":"2025-11-28T13:07:45.743134+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.102","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALPK1 was added\ngene: ALPK1 was added to Brain Calcification. Sources: Literature\nMode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ALPK1 were set to ROSAH syndrome, MIM#\t614979\nReview for gene: ALPK1 was set to GREEN\nAdded comment: Well established gene-disease association. One of the key features is premature basal ganglia/brainstem calcification. \nSources: Literature","entity_name":"ALPK1","entity_type":"gene"},{"created":"2025-11-28T11:05:46.274846+11:00","panel_name":"Hypertension and Aldosterone disorders","panel_id":190,"panel_version":"1.17","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: MTX2 as ready","entity_name":"MTX2","entity_type":"gene"},{"created":"2025-11-28T11:05:46.263836+11:00","panel_name":"Hypertension and Aldosterone disorders","panel_id":190,"panel_version":"1.17","user_name":"Chirag Patel","item_type":"entity","text":"Gene: mtx2 has been classified as Green List (High Evidence).","entity_name":"MTX2","entity_type":"gene"},{"created":"2025-11-28T11:05:40.102065+11:00","panel_name":"Hypertension and Aldosterone disorders","panel_id":190,"panel_version":"1.17","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene MTX2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-28T11:05:39.872777+11:00","panel_name":"Hypertension and Aldosterone disorders","panel_id":190,"panel_version":"1.17","user_name":"Chirag Patel","item_type":"entity","text":"gene: MTX2 was added\ngene: MTX2 was added to Hypertension and Aldosterone disorders. Sources: Expert Review Green,Literature\nMode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTX2 were set to 32917887\nPhenotypes for gene: MTX2 were set to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127; Mandibuloacral dysplasia; lipodystrophy; arterial calcification","entity_name":"MTX2","entity_type":"gene"},{"created":"2025-11-28T10:17:52.333324+11:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.15","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene FDFT1 from panel Ichthyosis and Porokeratosis","entity_name":null,"entity_type":null},{"created":"2025-11-28T10:17:52.221392+11:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.15","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FDFT1 was added\ngene: FDFT1 was added to Mosaic skin disorders. Sources: Expert Review Green,Literature\nsomatic tags were added to gene: FDFT1.\nMode of inheritance for gene: FDFT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FDFT1 were set to 38653249\nPhenotypes for gene: FDFT1 were set to porokeratosis MONDO:0006602, FDFT1-related","entity_name":"FDFT1","entity_type":"gene"},{"created":"2025-11-28T10:17:48.753421+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.40","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene FDFT1 from panel Ichthyosis and Porokeratosis","entity_name":null,"entity_type":null},{"created":"2025-11-28T10:17:48.431292+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.40","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FDFT1 was added\ngene: FDFT1 was added to Autoinflammatory Disorders. Sources: Expert Review Green,Literature\nsomatic tags were added to gene: FDFT1.\nMode of inheritance for gene: FDFT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FDFT1 were set to 38653249\nPhenotypes for gene: FDFT1 were set to porokeratosis MONDO:0006602, FDFT1-related","entity_name":"FDFT1","entity_type":"gene"},{"created":"2025-11-28T10:17:25.026372+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3701","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FDFT1 were changed from squalene synthase deficiency MONDO:0032566 to squalene synthase deficiency MONDO:0032566; porokeratosis MONDO:0006602, FDFT1-related","entity_name":"FDFT1","entity_type":"gene"},{"created":"2025-11-28T10:16:48.752138+11:00","panel_name":"Ichthyosis and Porokeratosis","panel_id":124,"panel_version":"1.22","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FDFT1 as ready","entity_name":"FDFT1","entity_type":"gene"},{"created":"2025-11-28T10:16:48.739275+11:00","panel_name":"Ichthyosis and Porokeratosis","panel_id":124,"panel_version":"1.22","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fdft1 has been classified as Green List (High Evidence).","entity_name":"FDFT1","entity_type":"gene"},{"created":"2025-11-28T10:16:43.976486+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3700","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FDFT1 were set to 29909962","entity_name":"FDFT1","entity_type":"gene"},{"created":"2025-11-28T10:16:23.597469+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3699","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: FDFT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"FDFT1","entity_type":"gene"},{"created":"2025-11-28T10:16:15.804520+11:00","panel_name":"Ichthyosis and Porokeratosis","panel_id":124,"panel_version":"1.22","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FDFT1 as Green List (high evidence)","entity_name":"FDFT1","entity_type":"gene"},{"created":"2025-11-28T10:16:15.793323+11:00","panel_name":"Ichthyosis and Porokeratosis","panel_id":124,"panel_version":"1.22","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fdft1 has been classified as Green List (High Evidence).","entity_name":"FDFT1","entity_type":"gene"},{"created":"2025-11-28T10:14:56.538099+11:00","panel_name":"Ichthyosis and Porokeratosis","panel_id":124,"panel_version":"1.21","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FDFT1 was added\ngene: FDFT1 was added to Ichthyosis and Porokeratosis. Sources: Literature\nsomatic tags were added to gene: FDFT1.\nMode of inheritance for gene: FDFT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FDFT1 were set to 38653249\nPhenotypes for gene: FDFT1 were set to porokeratosis MONDO:0006602, FDFT1-related\nReview for gene: FDFT1 was set to GREEN\nAdded comment: PMID: 38653249 - Skin lesions of 2 individuals with generalised porokeratosis had germline and lesion-specific somatic variants on opposite alleles in FDFT1, representing FDFT1-associated hereditary porokeratosis. Whereas, lesions of the solitary or linearly arranged localised form in 6 individuals had somatic biallelic promoter hypermethylation or monoallelic promoter hypermethylation with somatic genetic alterations on opposite alleles in FDFT1, indicating non-hereditary porokeratosis - gene-specific somatic epigenetic mosaicism. Porokeratosis is characterised as an autoinflammatory keratinisation disease \nSources: Literature","entity_name":"FDFT1","entity_type":"gene"},{"created":"2025-11-28T10:14:42.873228+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3698","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: FDFT1: Added comment: PMID: 38653249 - Skin lesions of 2 individuals with generalised porokeratosis had germline and lesion-specific somatic variants on opposite alleles in FDFT1, representing FDFT1-associated hereditary porokeratosis. Whereas, lesions of the solitary or linearly arranged localised form in 6 individuals had somatic biallelic promoter hypermethylation or monoallelic promoter hypermethylation with somatic genetic alterations on opposite alleles in FDFT1, indicating non-hereditary porokeratosis - gene-specific somatic epigenetic mosaicism. Porokeratosis is characterised as an autoinflammatory keratinisation disease; Changed publications: 29909962, 38653249; Changed phenotypes: squalene synthase deficiency MONDO:0032566, porokeratosis MONDO:0006602, FDFT1-related; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"FDFT1","entity_type":"gene"},{"created":"2025-11-27T22:20:47.563865+11:00","panel_name":"Ichthyosis and Porokeratosis","panel_id":124,"panel_version":"1.20","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Ichthyosis to Ichthyosis and Porokeratosis\nHPO terms changed from Ichthyosis, HP:0008064 to Ichthyosis, HP:0008064;Porokeratosis, HP:0200044\nList of related panels changed from Ichthyosis; HP:0008064 to Ichthyosis; HP:0008064;Porokeratosis; HP:0200044","entity_name":null,"entity_type":null},{"created":"2025-11-27T22:17:37.393371+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.39","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: PMVK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"PMVK","entity_type":"gene"},{"created":"2025-11-27T22:17:15.318877+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.38","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: MVK were changed from Hyper-IgD syndrome (MIM#260920); Mevalonic aciduria (MIM#610377) to Hyper-IgD syndrome (MIM#260920); Mevalonic aciduria (MIM#610377); porokeratosis 3, disseminated superficial actinic type MONDO:0008293","entity_name":"MVK","entity_type":"gene"},{"created":"2025-11-27T22:15:49.776824+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.37","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PMVK as Green List (high evidence)","entity_name":"PMVK","entity_type":"gene"},{"created":"2025-11-27T22:15:49.758920+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.37","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pmvk has been classified as Green List (High Evidence).","entity_name":"PMVK","entity_type":"gene"},{"created":"2025-11-27T22:15:13.757774+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.36","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: MVK were set to 29047407; 26409462","entity_name":"MVK","entity_type":"gene"},{"created":"2025-11-27T22:14:59.550467+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"1.19","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene MVD from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-27T22:14:59.384138+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"1.19","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MVD was added\ngene: MVD was added to Ichthyosis. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: MVD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MVD were set to 30942823; 33491095; 34135477\nPhenotypes for gene: MVD were set to Porokeratosis 7, multiple types, MIM# 614714; Nonsyndromic genetic hearing loss MONDO:0019497, MVD-related, AR","entity_name":"MVD","entity_type":"gene"},{"created":"2025-11-27T22:14:21.879295+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.36","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene MVD from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-27T22:14:21.685275+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.36","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MVD was added\ngene: MVD was added to Autoinflammatory Disorders. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: MVD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MVD were set to 30942823; 33491095; 34135477\nPhenotypes for gene: MVD were set to Porokeratosis 7, multiple types, MIM# 614714; Nonsyndromic genetic hearing loss MONDO:0019497, MVD-related, AR","entity_name":"MVD","entity_type":"gene"}]}