{"count":220828,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=187","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=185","results":[{"created":"2025-08-20T15:43:43.917668+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOD2 were changed from Lethal neonatal dilated cardiomyopathy to Dilated cardiomyopathy MONDO:0005021, lethal neonatal, SOD2-related","entity_name":"SOD2","entity_type":"gene"},{"created":"2025-08-20T15:43:14.417237+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.42","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SOD2: Changed phenotypes: Dilated cardiomyopathy MONDO:0005021, lethal neonatal, SOD2-related","entity_name":"SOD2","entity_type":"gene"},{"created":"2025-08-20T15:41:54.999105+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.228","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOBP were changed from Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671 to Impaired intellectual development, anterior maxillary protrusion, and strabismus, MIM# 613671","entity_name":"SOBP","entity_type":"gene"},{"created":"2025-08-20T15:41:30.378806+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.227","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SOBP: Changed phenotypes: Impaired intellectual development, anterior maxillary protrusion, and strabismus, MIM# 613671","entity_name":"SOBP","entity_type":"gene"},{"created":"2025-08-20T15:41:15.452030+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2857","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOBP were changed from Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671 to Impaired intellectual development, anterior maxillary protrusion, and strabismus, MIM# 613671","entity_name":"SOBP","entity_type":"gene"},{"created":"2025-08-20T15:40:54.271212+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2856","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SOBP: Changed phenotypes: Impaired intellectual development, anterior maxillary protrusion, and strabismus, MIM# 613671","entity_name":"SOBP","entity_type":"gene"},{"created":"2025-08-20T15:40:46.152128+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2856","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SOBP: Changed phenotypes: mpaired intellectual development, anterior maxillary protrusion, and strabismus, MIM# 613671","entity_name":"SOBP","entity_type":"gene"},{"created":"2025-08-20T15:39:58.675508+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.227","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNX27 were changed from intellectual disability; seizures to Neurodevelopmental disorder MONDO:0700092, SNX27-related","entity_name":"SNX27","entity_type":"gene"},{"created":"2025-08-20T15:39:36.267231+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.226","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SNX27: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, SNX27-related","entity_name":"SNX27","entity_type":"gene"},{"created":"2025-08-20T15:39:21.165876+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.178","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNX27 were changed from intellectual disability; seizures to Neurodevelopmental disorder MONDO:0700092, SNX27-related","entity_name":"SNX27","entity_type":"gene"},{"created":"2025-08-20T15:38:55.279874+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.177","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SNX27: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, SNX27-related","entity_name":"SNX27","entity_type":"gene"},{"created":"2025-08-20T15:38:41.726864+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2856","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNX27 were changed from intellectual disability; seizures to Neurodevelopmental disorder MONDO:0700092, SNX27-related","entity_name":"SNX27","entity_type":"gene"},{"created":"2025-08-20T15:38:25.680098+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2855","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SNX27: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, SNX27-related","entity_name":"SNX27","entity_type":"gene"},{"created":"2025-08-20T15:26:53.410658+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMPDL3A were changed from Sensory Neuropathy to Sensory Neuropathy MONDO:0002321, SMPDL3A-related","entity_name":"SMPDL3A","entity_type":"gene"},{"created":"2025-08-20T15:26:40.033884+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SMPDL3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sensory Neuropathy MONDO:0002321, SMPDL3A-related; Mode of inheritance: None","entity_name":"SMPDL3A","entity_type":"gene"},{"created":"2025-08-20T15:26:23.617203+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2855","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMPDL3A were changed from Sensory Neuropathy to Sensory Neuropathy MONDO:0002321, SMPDL3A-related","entity_name":"SMPDL3A","entity_type":"gene"},{"created":"2025-08-20T15:25:30.950187+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2854","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SMPDL3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sensory Neuropathy MONDO:0002321, SMPDL3A-related; Mode of inheritance: None","entity_name":"SMPDL3A","entity_type":"gene"},{"created":"2025-08-20T15:23:23.684137+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2854","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMPD4 were changed from Severe neurodevelopmental delay, microcephaly, arthrogryposis to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (MIM#618622)","entity_name":"SMPD4","entity_type":"gene"},{"created":"2025-08-20T15:23:08.874360+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2853","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SMPD4: Changed phenotypes: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (MIM#618622)","entity_name":"SMPD4","entity_type":"gene"},{"created":"2025-08-20T15:08:18.203535+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.226","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMARCD1 were changed from no OMIM number yet to Neurodevelopmental disorder MONDO:0700092, SMARCD1-related","entity_name":"SMARCD1","entity_type":"gene"},{"created":"2025-08-20T15:07:45.908774+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.225","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SMARCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder MONDO:0700092, SMARCD1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMARCD1","entity_type":"gene"},{"created":"2025-08-20T15:07:23.552422+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2853","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMARCD1 were changed from Intellectual disability; dysmorphic features to Neurodevelopmental disorder MONDO:0700092, SMARCD1-related","entity_name":"SMARCD1","entity_type":"gene"},{"created":"2025-08-20T15:07:08.660895+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2852","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SMARCD1: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, SMARCD1-related","entity_name":"SMARCD1","entity_type":"gene"},{"created":"2025-08-20T14:58:44.690559+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.225","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMARCA5 were changed from Neurodevelopmental disorder; microcephaly; dysmorphic features to Neurodevelopmental disorder MONDO:0700092, SMARCA5-related","entity_name":"SMARCA5","entity_type":"gene"},{"created":"2025-08-20T14:58:18.699534+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.224","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SMARCA5: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, SMARCA5-related","entity_name":"SMARCA5","entity_type":"gene"},{"created":"2025-08-20T14:58:07.282383+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.321","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMARCA5 were changed from Neurodevelopmental disorder; microcephaly; dysmorphic features to Neurodevelopmental disorder MONDO:0700092, SMARCA5-related","entity_name":"SMARCA5","entity_type":"gene"},{"created":"2025-08-20T14:57:43.202156+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.320","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SMARCA5: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, SMARCA5-related","entity_name":"SMARCA5","entity_type":"gene"},{"created":"2025-08-20T14:57:08.572307+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2852","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMARCA5 were changed from Neurodevelopmental disorder; microcephaly; dysmorphic features to Neurodevelopmental disorder MONDO:0700092, SMARCA5-related","entity_name":"SMARCA5","entity_type":"gene"},{"created":"2025-08-20T14:56:49.647595+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2851","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SMARCA5: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, SMARCA5-related","entity_name":"SMARCA5","entity_type":"gene"},{"created":"2025-08-20T14:38:37.521383+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2851","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMAD1 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, SMAD1-related","entity_name":"SMAD1","entity_type":"gene"},{"created":"2025-08-20T14:35:36.159870+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.395","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLIT3 were changed from Congenital diaphragmatic hernia to Congenital diaphragmatic hernia MONDO:0005711, SLIT3-related","entity_name":"SLIT3","entity_type":"gene"},{"created":"2025-08-20T14:35:21.512942+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.394","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLIT3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital diaphragmatic hernia MONDO:0005711, SLIT3-related; Mode of inheritance: None","entity_name":"SLIT3","entity_type":"gene"},{"created":"2025-08-20T14:34:31.841624+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2850","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLIT3 were changed from Congenital diaphragmatic hernia to Congenital diaphragmatic hernia MONDO:0005711, SLIT3-related","entity_name":"SLIT3","entity_type":"gene"},{"created":"2025-08-20T14:34:16.322194+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2849","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLIT3: Changed phenotypes: Congenital diaphragmatic hernia MONDO:0005711, SLIT3-related","entity_name":"SLIT3","entity_type":"gene"},{"created":"2025-08-20T14:34:03.743580+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLIT3 were changed from Congenital diaphragmatic hernia to Congenital diaphragmatic hernia MONDO:0005711, SLIT3-related","entity_name":"SLIT3","entity_type":"gene"},{"created":"2025-08-20T14:33:34.543577+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLIT3: Changed phenotypes: Congenital diaphragmatic hernia MONDO:0005711, SLIT3-related","entity_name":"SLIT3","entity_type":"gene"},{"created":"2025-08-20T14:32:43.441934+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.394","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLIT2 were changed from CAKUT; vesicoureteric reflux to CAKUT MONDO:0019719, SLIT2-related","entity_name":"SLIT2","entity_type":"gene"},{"created":"2025-08-20T14:32:32.084730+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.393","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLIT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: CAKUT MONDO:0019719, SLIT2-related; Mode of inheritance: None","entity_name":"SLIT2","entity_type":"gene"},{"created":"2025-08-20T14:32:16.157349+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2849","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLIT2 were changed from CAKUT to CAKUT MONDO:0019719, SLIT2-related","entity_name":"SLIT2","entity_type":"gene"},{"created":"2025-08-20T14:32:01.418132+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2848","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLIT2: Changed phenotypes: CAKUT MONDO:0019719, SLIT2-related","entity_name":"SLIT2","entity_type":"gene"},{"created":"2025-08-20T14:29:59.606339+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.989","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLIRP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inborn mitochondrial metabolism disorder MONDO:0004069, SLIRP-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLIRP","entity_type":"gene"},{"created":"2025-08-20T14:29:39.055590+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2848","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLIRP were changed from Mitochondrial encephalomyopathy with complex I and IV deficiency to Inborn mitochondrial metabolism disorder MONDO:0004069, SLIRP-related","entity_name":"SLIRP","entity_type":"gene"},{"created":"2025-08-20T14:29:17.497972+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2847","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLIRP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inborn mitochondrial metabolism disorder MONDO:0004069, SLIRP-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLIRP","entity_type":"gene"},{"created":"2025-08-20T14:18:49.520222+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.393","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC6A17 were changed from Mental retardation, autosomal recessive 48, MIM#\t616269 to Intellectual developmental disorder, autosomal recessive 48, MIM#\t616269","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2025-08-20T14:18:26.603572+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.224","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC6A17 were changed from Mental retardation, autosomal recessive 48, MIM# 616269 to Intellectual developmental disorder, autosomal recessive 48, MIM# 616269","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2025-08-20T14:17:57.439715+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.223","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC6A17: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 48, MIM# 616269","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2025-08-20T14:17:34.312765+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2847","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC6A17 were changed from Mental retardation, autosomal recessive 48, MIM# 616269 to Intellectual developmental disorder, autosomal recessive 48, MIM# 616269","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2025-08-20T14:17:14.579388+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2846","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC6A17: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 48, MIM# 616269","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2025-08-20T13:54:09.876297+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DAAM2 as ready","entity_name":"DAAM2","entity_type":"gene"},{"created":"2025-08-20T13:54:09.871717+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Downgraded to RED as only one plausible family.","entity_name":"DAAM2","entity_type":"gene"},{"created":"2025-08-20T13:54:09.846931+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: daam2 has been classified as Red List (Low Evidence).","entity_name":"DAAM2","entity_type":"gene"},{"created":"2025-08-20T13:53:41.871295+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DAAM2 as Red List (low evidence)","entity_name":"DAAM2","entity_type":"gene"},{"created":"2025-08-20T13:53:41.864032+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: daam2 has been classified as Red List (Low Evidence).","entity_name":"DAAM2","entity_type":"gene"},{"created":"2025-08-20T13:47:08.139295+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2846","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WNT1 were changed from Osteogenesis imperfecta, type XV, MIM# 615220 to Osteogenesis imperfecta, type XV, MIM# 615220; Osteoporosis MONDO:0005298","entity_name":"WNT1","entity_type":"gene"},{"created":"2025-08-20T13:46:51.575119+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2845","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WNT1 were set to 23499309; 23499310; 23656646; 26671912","entity_name":"WNT1","entity_type":"gene"},{"created":"2025-08-20T13:46:27.923057+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2844","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: WNT1: Added comment: Multiple families with milder monoallelic disease reported.; Changed publications: 23499309, 23499310, 23656646, 26671912, 27005318, 25010833, 30246918, 30283887; Changed phenotypes: Osteogenesis imperfecta, type XV, MIM# 615220, Osteoporosis MONDO:0005298; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"WNT1","entity_type":"gene"},{"created":"2025-08-20T13:45:24.416616+10:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WNT1 were changed from Osteogenesis imperfecta, type XV, MIM# 615220 to Osteogenesis imperfecta, type XV, MIM# 615220; Osteoporosis MONDO:0005298","entity_name":"WNT1","entity_type":"gene"},{"created":"2025-08-20T13:45:00.837670+10:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WNT1 were set to 23499309; 23499310; 23656646; 26671912","entity_name":"WNT1","entity_type":"gene"},{"created":"2025-08-20T13:43:47.058580+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAP1B as ready","entity_name":"MAP1B","entity_type":"gene"},{"created":"2025-08-20T13:43:47.051700+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map1b has been classified as Green List (High Evidence).","entity_name":"MAP1B","entity_type":"gene"},{"created":"2025-08-20T13:43:44.749602+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAP1B were changed from corpus callosum to Periventricular nodular heterotopia 9, MIM# 618918","entity_name":"MAP1B","entity_type":"gene"},{"created":"2025-08-20T13:43:15.499032+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.552","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAP1B as Green List (high evidence)","entity_name":"MAP1B","entity_type":"gene"},{"created":"2025-08-20T13:43:15.488833+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.552","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map1b has been classified as Green List (High Evidence).","entity_name":"MAP1B","entity_type":"gene"},{"created":"2025-08-20T13:42:55.666938+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.551","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Periventricular nodular heterotopia 9, MIM# 618918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAP1B","entity_type":"gene"},{"created":"2025-08-20T13:39:42.354092+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2844","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAP4K1 as ready","entity_name":"MAP4K1","entity_type":"gene"},{"created":"2025-08-20T13:39:42.346803+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2844","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map4k1 has been classified as Green List (High Evidence).","entity_name":"MAP4K1","entity_type":"gene"},{"created":"2025-08-20T13:39:34.358431+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2844","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAP4K1 as Green List (high evidence)","entity_name":"MAP4K1","entity_type":"gene"},{"created":"2025-08-20T13:39:34.347967+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2844","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map4k1 has been classified as Green List (High Evidence).","entity_name":"MAP4K1","entity_type":"gene"},{"created":"2025-08-20T13:38:57.093801+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2843","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAP4K1 was added\ngene: MAP4K1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: MAP4K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP4K1 were set to 40716650\nPhenotypes for gene: MAP4K1 were set to Inborn error of immunity, MONDO:0003778, MAP4K1-related\nReview for gene: MAP4K1 was set to GREEN\nAdded comment: Heterozygous MAP4K1 loss-of-function variants were identified in two kindreds presenting with diverse immune dysregulatory symptoms, including recurrent fevers, inflammatory arthritis, EBV-related complications, and nephritis. Functional analysis of primary patient T cells, transcriptomics, and CRISPR-Cas9 editing demonstrated that HPK1 deficiency heightened T cell activation and inflammatory cytokine production. Penetrance was incomplete.\r\n\r\nOne of the families was multiplex (8 affected individuals) and the other had single individual affected, extensive functional data. Borderline Amber/Green. \nSources: Expert Review","entity_name":"MAP4K1","entity_type":"gene"},{"created":"2025-08-20T13:36:40.612693+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAP4K1 as ready","entity_name":"MAP4K1","entity_type":"gene"},{"created":"2025-08-20T13:36:40.602320+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map4k1 has been classified as Green List (High Evidence).","entity_name":"MAP4K1","entity_type":"gene"},{"created":"2025-08-20T13:36:38.152020+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAP4K1 were changed from Immune dysregulation to Inborn error of immunity, MONDO:0003778, MAP4K1-related","entity_name":"MAP4K1","entity_type":"gene"},{"created":"2025-08-20T13:36:14.253896+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAP4K1 as Green List (high evidence)","entity_name":"MAP4K1","entity_type":"gene"},{"created":"2025-08-20T13:36:14.232508+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map4k1 has been classified as Green List (High Evidence).","entity_name":"MAP4K1","entity_type":"gene"},{"created":"2025-08-20T13:35:47.345006+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: One multiplex family with 8 affected individuals and one family with single individual affected, extensive functional data.; to: One multiplex family with 8 affected individuals and one family with single individual affected, extensive functional data. Borderline Amber/Green.","entity_name":"MAP4K1","entity_type":"gene"},{"created":"2025-08-20T13:35:37.073903+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAP4K1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Inborn error of immunity, MONDO:0003778, MAP4K1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAP4K1","entity_type":"gene"},{"created":"2025-08-20T12:20:12.745833+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MN1 as ready","entity_name":"MN1","entity_type":"gene"},{"created":"2025-08-20T12:20:12.735716+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mn1 has been classified as Green List (High Evidence).","entity_name":"MN1","entity_type":"gene"},{"created":"2025-08-20T12:20:10.245730+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MN1 were changed from  to Cleft palate; CEBALID syndrome, MIM# 618774","entity_name":"MN1","entity_type":"gene"},{"created":"2025-08-20T12:19:45.430175+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MN1 were set to ","entity_name":"MN1","entity_type":"gene"},{"created":"2025-08-20T12:19:19.788058+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MN1","entity_type":"gene"},{"created":"2025-08-20T12:18:59.195833+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33351141, 31834374, 33351070, 15870292; Phenotypes: Cleft palate, CEBALID syndrome, MIM# 618774; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MN1","entity_type":"gene"},{"created":"2025-08-20T12:16:37.273825+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2842","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: MN1: Recently discussed at Clingen syndromic GCEP. Noted well described C terminal truncating variants to result in GOF and CEBALID syndrome. Defined a milder phenotype with LOF mechanism for NMD predicted variants and whole gene deletions to result in a non specific craniofacial phenotype involving cleft palate.","entity_name":"MN1","entity_type":"gene"},{"created":"2025-08-20T12:15:57.934811+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.267","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MN1 were set to 33351141; 31834374; 33351070","entity_name":"MN1","entity_type":"gene"},{"created":"2025-08-20T12:15:40.996790+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.266","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MN1 as Green List (high evidence)","entity_name":"MN1","entity_type":"gene"},{"created":"2025-08-20T12:15:40.989583+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.266","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mn1 has been classified as Green List (High Evidence).","entity_name":"MN1","entity_type":"gene"},{"created":"2025-08-20T11:35:58.508361+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.265","user_name":"Sarah Milton","item_type":"entity","text":"reviewed gene: MN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33351070, 31834374, 31834374, 15870292; Phenotypes: Cleft palate, MONDO:0016064, MN1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MN1","entity_type":"gene"},{"created":"2025-08-20T11:16:52.705197+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHST14 as ready","entity_name":"CHST14","entity_type":"gene"},{"created":"2025-08-20T11:16:52.693386+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chst14 has been classified as Green List (High Evidence).","entity_name":"CHST14","entity_type":"gene"},{"created":"2025-08-20T11:16:21.312416+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHST14 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHST14","entity_type":"gene"},{"created":"2025-08-20T11:15:47.907101+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.57","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHST14 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHST14","entity_type":"gene"},{"created":"2025-08-20T11:15:27.719971+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CHST14: Changed phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHST14","entity_type":"gene"},{"created":"2025-08-19T17:26:57.659616+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.19","user_name":"Peter McNaughton","item_type":"entity","text":"gene: MAP4K1 was added\ngene: MAP4K1 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: MAP4K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP4K1 were set to PMID: 40716650\nPhenotypes for gene: MAP4K1 were set to Immune dysregulation\nPenetrance for gene: MAP4K1 were set to Incomplete\nReview for gene: MAP4K1 was set to GREEN\nAdded comment: Heterozygous MAP4K1 loss-of-function variants were identified in two kindreds presenting with diverse immune dysregulatory symptoms, including recurrent fevers, inflammatory arthritis, EBV-related complications, and nephritis. Functional analysis of primary patient T cells, transcriptomics, and CRISPR-Cas9 editing demonstrated that HPK1 deficiency heightened T cell activation and inflammatory cytokine production.  Penetrance was incomplete. \nSources: Literature","entity_name":"MAP4K1","entity_type":"gene"},{"created":"2025-08-19T16:08:46.835509+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARHGAP36 as ready","entity_name":"ARHGAP36","entity_type":"gene"},{"created":"2025-08-19T16:08:46.828271+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arhgap36 has been classified as Amber List (Moderate Evidence).","entity_name":"ARHGAP36","entity_type":"gene"},{"created":"2025-08-19T16:08:42.640849+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARHGAP36 as Amber List (moderate evidence)","entity_name":"ARHGAP36","entity_type":"gene"},{"created":"2025-08-19T16:08:42.630661+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arhgap36 has been classified as Amber List (Moderate Evidence).","entity_name":"ARHGAP36","entity_type":"gene"},{"created":"2025-08-19T16:08:33.512645+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARHGAP36 was added\ngene: ARHGAP36 was added to Ectodermal Dysplasia. Sources: Expert Review\nSV/CNV, regulatory region tags were added to gene: ARHGAP36.\nMode of inheritance for gene: ARHGAP36 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: ARHGAP36 were set to 35986704; 40015599\nPhenotypes for gene: ARHGAP36 were set to Bazex-Dupre-Christol syndrome, MIM# 301845\nMode of pathogenicity for gene: ARHGAP36 was set to Other\nReview for gene: ARHGAP36 was set to AMBER\nAdded comment: Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward.\r\n\r\nIt is caused by small duplications in an intergenic region on chromosome Xq26 harbouring noncoding enhancer elements that drive overexpression of the ARHGAP36 gene.\r\n\r\nGenomic coordinates (GRCh38) : X:129,500,001-138,900,000.\r\n\r\nAt least 9 families reported but AMBER rating until we decide how to handle regulatory region information in PanelApp Aus -- coding region variants not reported. \nSources: Expert Review","entity_name":"ARHGAP36","entity_type":"gene"},{"created":"2025-08-19T14:17:28.921910+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.5","user_name":"Lilian Downie","item_type":"entity","text":"gene: CBS was added\ngene: CBS was added to Genomic newborn screening: ICoNS. Sources: Expert list\nMode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types MIM#236200\nAdded comment: Well established gene-disease association.\r\n\r\nMulti-system disorder, onset can be in infancy - highly variable. \r\nIn general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature.\r\n\r\nHomozygous for the p.I278T can be asymptomatic throughout life or have isolated thromboembolism.\r\n\r\nTreatment: vitamin B6 (pyridoxine), methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219.\r\n\r\nNon-genetic confirmatory testing: plasma total homocysteine and plasma amino acids\r\n\r\nPaediatric actionable gene by ClinGen. \nSources: Expert list","entity_name":"CBS","entity_type":"gene"},{"created":"2025-08-19T14:03:35.878427+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.4","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: AK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19043416, 19043417, 40654267; Phenotypes: Reticular dysgenesis MIM#267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AK2","entity_type":"gene"}]}