{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=637","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=635","results":[{"created":"2023-02-18T17:34:16.597398+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5175","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPM1K: Added comment: PMID: 36706222 reported a patient with MSUD with mild findings and elevated BCAA levels carrying a novel homozygous start-loss variant in PPM1K.; Changed rating: AMBER; Changed publications: 23086801, 36706222","entity_name":"PPM1K","entity_type":"gene"},{"created":"2023-02-18T17:33:34.422735+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.682","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PPM1K were set to 23086801","entity_name":"PPM1K","entity_type":"gene"},{"created":"2023-02-18T17:33:10.888067+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.681","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPM1K as Amber List (moderate evidence)","entity_name":"PPM1K","entity_type":"gene"},{"created":"2023-02-18T17:33:10.875632+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.681","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppm1k has been classified as Amber List (Moderate Evidence).","entity_name":"PPM1K","entity_type":"gene"},{"created":"2023-02-18T17:31:48.517577+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.680","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPM1K: Added comment: PMID: 36706222 reported a patient with MSUD with mild findings and elevated BCAA levels carrying a novel homozygous start-loss variant in PPM1K; Changed rating: AMBER; Changed publications: 23086801, 36706222","entity_name":"PPM1K","entity_type":"gene"},{"created":"2023-02-18T17:31:09.948017+11:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPM1K were changed from maple syrup urine disease, mild variant MONDO:0014057 to Maple syrup urine disease, mild variant MONDO:0014057","entity_name":"PPM1K","entity_type":"gene"},{"created":"2023-02-18T17:30:50.546013+11:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PPM1K were set to 29152456; 23086801","entity_name":"PPM1K","entity_type":"gene"},{"created":"2023-02-18T17:30:28.799429+11:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPM1K as Amber List (moderate evidence)","entity_name":"PPM1K","entity_type":"gene"},{"created":"2023-02-18T17:30:28.786375+11:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppm1k has been classified as Amber List (Moderate Evidence).","entity_name":"PPM1K","entity_type":"gene"},{"created":"2023-02-18T17:27:51.748305+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KBTBD13 as ready","entity_name":"KBTBD13","entity_type":"gene"},{"created":"2023-02-18T17:27:51.730005+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kbtbd13 has been classified as Amber List (Moderate Evidence).","entity_name":"KBTBD13","entity_type":"gene"},{"created":"2023-02-18T17:25:53.619830+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.680","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARHGAP35 were changed from neurodevelopmental disorder, ARHGAP35-related MONDO#0700092; Developmental defect of the eye (MONDO:0020145), ARHGAP35-related to Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related; neurodevelopmental disorder, ARHGAP35-related MONDO#0700092; Developmental defect of the eye (MONDO:0020145), ARHGAP35-related","entity_name":"ARHGAP35","entity_type":"gene"},{"created":"2023-02-18T17:25:29.650515+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.679","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARHGAP35 were set to 33057194; 36450800","entity_name":"ARHGAP35","entity_type":"gene"},{"created":"2023-02-18T17:25:04.836171+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.678","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARHGAP35: Rating: GREEN; Mode of pathogenicity: None; Publications: 36178483; Phenotypes: Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARHGAP35","entity_type":"gene"},{"created":"2023-02-18T17:23:17.242569+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.88","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EFCAB1 as ready","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-02-18T17:23:17.226203+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: efcab1 has been classified as Green List (High Evidence).","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-02-18T17:23:07.716047+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.272","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARHGAP35 as ready","entity_name":"ARHGAP35","entity_type":"gene"},{"created":"2023-02-18T17:23:07.704783+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.272","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arhgap35 has been classified as Green List (High Evidence).","entity_name":"ARHGAP35","entity_type":"gene"},{"created":"2023-02-18T17:23:01.781512+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.272","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARHGAP35 were changed from Idiopathic hypogonadotropic hypogonadism, no OMIM # to Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related","entity_name":"ARHGAP35","entity_type":"gene"},{"created":"2023-02-18T17:22:27.484693+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.271","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARHGAP35: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARHGAP35","entity_type":"gene"},{"created":"2023-02-18T14:38:19.021268+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.88","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EFCAB1 as Green List (high evidence)","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-02-18T14:38:19.008821+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: efcab1 has been classified as Green List (High Evidence).","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-02-18T14:38:05.471228+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.87","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EFCAB1 was added\ngene: EFCAB1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: EFCAB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EFCAB1 were set to 36727596\nPhenotypes for gene: EFCAB1 were set to Primary ciliary dyskinesia, MONDO:0016575, EFCAB1-related\nReview for gene: EFCAB1 was set to GREEN\nAdded comment: WES in 3 individuals with laterality defects and respiratory symptoms, identified homozygous pathogenic variants in CLXN (EFCAB1). They found Clxn expressed in mice left-right organizer. Transmission electron microscopy depicted outer dynein arm (ODA) defects in distal ciliary axonemes. Immunofluorescence microscopy revealed absence of CLXN from the ciliary axonemes, absence of the ODA components DNAH5, DNAI1 and DNAI2 from the distal axonemes, as well as mislocalization or absence of DNAH9. Additionally, CLXN is undetectable in ciliary axonemes of individuals with defects in the outer dynein arm docking (ODA-DC) machinery: ODAD1, ODAD2, ODAD3 and ODAD4. Moreover, SMED-EFCAB1-deficient planaria displayed ciliary dysmotility. \nSources: Literature","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-02-18T14:36:00.127488+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EFCAB1 as ready","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-02-18T14:36:00.110205+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: efcab1 has been classified as Green List (High Evidence).","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-02-18T14:35:53.727944+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFCAB1 were changed from Primary ciliary dyskinesia and heterotaxy, no OMIM # to Primary ciliary dyskinesia, MONDO:0016575, EFCAB1-related","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-02-18T14:35:18.456652+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EFCAB1 as ready","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-02-18T14:35:18.445189+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: efcab1 has been classified as Green List (High Evidence).","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-02-18T14:35:15.861673+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFCAB1 were changed from Primary ciliary dyskinesia and heterotaxy, no OMIM # to Primary ciliary dyskinesia, MONDO:0016575, EFCAB1-related","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-02-18T14:34:27.409522+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.678","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EFCAB1 as ready","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-02-18T14:34:27.395560+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.678","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: efcab1 has been classified as Green List (High Evidence).","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-02-18T14:34:05.766180+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.678","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFCAB1 were changed from Primary ciliary dyskinesia and heterotaxy, no OMIM # to Primary ciliary dyskinesia, MONDO:0016575, EFCAB1-related","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-02-18T14:33:38.923872+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.677","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EFCAB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia, MONDO:0016575, EFCAB1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-02-18T14:31:33.064888+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.677","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CST6 as ready","entity_name":"CST6","entity_type":"gene"},{"created":"2023-02-18T14:31:33.054868+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.677","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cst6 has been classified as Green List (High Evidence).","entity_name":"CST6","entity_type":"gene"},{"created":"2023-02-18T14:31:22.785159+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.677","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CST6 as Green List (high evidence)","entity_name":"CST6","entity_type":"gene"},{"created":"2023-02-18T14:31:22.778210+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.677","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cst6 has been classified as Green List (High Evidence).","entity_name":"CST6","entity_type":"gene"},{"created":"2023-02-18T14:31:04.878588+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.676","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CST6 was added\ngene: CST6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CST6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CST6 were set to 30425301; 36371786\nPhenotypes for gene: CST6 were set to Ectodermal dysplasia 15, hypohidrotic/hair type MIM#618535\nReview for gene: CST6 was set to GREEN\nAdded comment: Two families reported and functional data. \nSources: Literature","entity_name":"CST6","entity_type":"gene"},{"created":"2023-02-18T14:29:24.683974+11:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CST6 were set to 30425301; 12393798","entity_name":"CST6","entity_type":"gene"},{"created":"2023-02-18T14:29:10.509499+11:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CST6: Rating: AMBER; Mode of pathogenicity: None; Publications: 36371786; Phenotypes: Ectodermal dysplasia 15, hypohidrotic/hair type, 618535; Mode of inheritance: None","entity_name":"CST6","entity_type":"gene"},{"created":"2023-02-18T14:28:26.837336+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CST6 as ready","entity_name":"CST6","entity_type":"gene"},{"created":"2023-02-18T14:28:26.828977+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cst6 has been classified as Green List (High Evidence).","entity_name":"CST6","entity_type":"gene"},{"created":"2023-02-18T14:28:06.801360+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CST6 were changed from ?Ectodermal dysplasia 15, hypohidrotic/hair type, 618535 to Ectodermal dysplasia 15, hypohidrotic/hair type, 618535","entity_name":"CST6","entity_type":"gene"},{"created":"2023-02-18T14:27:59.931927+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CST6 were set to 30425301","entity_name":"CST6","entity_type":"gene"},{"created":"2023-02-18T14:27:07.661167+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNV2 were set to 30679166; 16909397; 18235024; 21882291","entity_name":"KCNV2","entity_type":"gene"},{"created":"2023-02-18T14:26:16.190305+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KDSR were set to 28774589; 30467204; 28575652","entity_name":"KDSR","entity_type":"gene"},{"created":"2023-02-18T14:25:06.174502+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5175","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB39B as ready","entity_name":"RAB39B","entity_type":"gene"},{"created":"2023-02-18T14:25:06.165902+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5175","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab39b has been classified as Green List (High Evidence).","entity_name":"RAB39B","entity_type":"gene"},{"created":"2023-02-18T14:24:53.430452+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5175","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB39B were changed from  to Intellectual developmental disorder, X-linked 72, OMIM:300271; Waisman syndrome, OMIM:311510","entity_name":"RAB39B","entity_type":"gene"},{"created":"2023-02-18T14:24:21.503345+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5174","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB39B were set to ","entity_name":"RAB39B","entity_type":"gene"},{"created":"2023-02-18T14:23:47.677511+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5173","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB39B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RAB39B","entity_type":"gene"},{"created":"2023-02-18T14:22:02.752674+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5172","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: JPH3 were changed from Intellectual disability; dystonia to Neurodevelopmental disorder, MONDO:0700092, JPH3-related; Intellectual disability; dystonia","entity_name":"JPH3","entity_type":"gene"},{"created":"2023-02-18T14:21:29.179365+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5171","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: JPH3 were set to 33824468","entity_name":"JPH3","entity_type":"gene"},{"created":"2023-02-18T14:20:56.399218+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5170","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: JPH3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"JPH3","entity_type":"gene"},{"created":"2023-02-18T14:20:23.370913+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5169","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: JPH3 as Amber List (moderate evidence)","entity_name":"JPH3","entity_type":"gene"},{"created":"2023-02-18T14:20:23.360392+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jph3 has been classified as Amber List (Moderate Evidence).","entity_name":"JPH3","entity_type":"gene"},{"created":"2023-02-18T14:19:50.688618+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5168","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: JPH3: Rating: AMBER; Mode of pathogenicity: None; Publications: 36273396; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, JPH3-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"JPH3","entity_type":"gene"},{"created":"2023-02-18T14:18:49.359379+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.675","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: JPH3 were changed from Intellectual disability; dystonia to Neurodevelopmental disorder, MONDO:0700092, JPH3-related; Intellectual disability; dystonia","entity_name":"JPH3","entity_type":"gene"},{"created":"2023-02-18T14:18:27.190281+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.674","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: JPH3 were set to 33824468","entity_name":"JPH3","entity_type":"gene"},{"created":"2023-02-18T14:17:55.595294+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.673","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: JPH3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"JPH3","entity_type":"gene"},{"created":"2023-02-18T14:17:36.170791+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.672","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: JPH3 as Amber List (moderate evidence)","entity_name":"JPH3","entity_type":"gene"},{"created":"2023-02-18T14:17:36.159886+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.672","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jph3 has been classified as Amber List (Moderate Evidence).","entity_name":"JPH3","entity_type":"gene"},{"created":"2023-02-18T14:17:17.079969+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.671","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: JPH3: Rating: AMBER; Mode of pathogenicity: None; Publications: 36273396; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, JPH3-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"JPH3","entity_type":"gene"},{"created":"2023-02-18T14:17:08.080555+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JPH3 as ready","entity_name":"JPH3","entity_type":"gene"},{"created":"2023-02-18T14:17:08.069560+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jph3 has been classified as Amber List (Moderate Evidence).","entity_name":"JPH3","entity_type":"gene"},{"created":"2023-02-18T14:16:49.040574+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: JPH3 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None","entity_name":"JPH3","entity_type":"gene"},{"created":"2023-02-18T14:16:17.354775+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: JPH3 as Amber List (moderate evidence)","entity_name":"JPH3","entity_type":"gene"},{"created":"2023-02-18T14:16:17.345576+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jph3 has been classified as Amber List (Moderate Evidence).","entity_name":"JPH3","entity_type":"gene"},{"created":"2023-02-18T14:15:47.834334+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two families reported with bi-allelic variants and neurodevelopmental disorder involving paroxysmal dystonia. One family with mono-allelic variant, milder.; to: Two families reported with bi-allelic variants and neurodevelopmental disorder involving paroxysmal dystonia. One family with mono-allelic variant, milder.\r\n\r\nNote STRs in this gene cause a separate disorder.","entity_name":"JPH3","entity_type":"gene"},{"created":"2023-02-18T14:15:30.179970+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: JPH3: Rating: AMBER; Mode of pathogenicity: None; Publications: 36273396; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, JPH3-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"JPH3","entity_type":"gene"},{"created":"2023-02-18T14:10:38.082082+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNT11 as ready","entity_name":"WNT11","entity_type":"gene"},{"created":"2023-02-18T14:10:38.072612+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt11 has been classified as Green List (High Evidence).","entity_name":"WNT11","entity_type":"gene"},{"created":"2023-02-18T14:10:32.903545+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WNT11 as Green List (high evidence)","entity_name":"WNT11","entity_type":"gene"},{"created":"2023-02-18T14:10:32.896096+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt11 has been classified as Green List (High Evidence).","entity_name":"WNT11","entity_type":"gene"},{"created":"2023-02-18T14:10:03.167629+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNT11 was added\ngene: WNT11 was added to Osteogenesis Imperfecta. Sources: Literature\nMode of inheritance for gene: WNT11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WNT11 were set to 34875064\nPhenotypes for gene: WNT11 were set to Osteoporosis, MONDO:0005298, WNT11-related\nReview for gene: WNT11 was set to GREEN\nAdded comment: This gene has been implicated in early-onset osteoporosis from three unrelated cases and was supported by evidence from functional studies. All three patients harboured heterozygous variants in WNT11 gene.\r\n\r\nThree unrelated cases are reported in PMID: 34875064. A four year-old boy harbouring de novo heterozygous loss-of-function variant c.677_678dupGG (p.Leu227Glyfs*22) was reported with low BMD, osteopenia and several fractures. \r\n\r\nA 51 year-old woman and her 69 year-old mother were identified with a heterozygous missense variant c.217G>A (p.Ala73Thr). The woman was reported with bone fragility, several fractures, osteoarthritis and osteoporosis, while her mother also had several osteoporotic fractures.\r\n\r\nA 61 year-old woman that was reported with lumbar spine osteoarthritis had several fractures since 55 years of age was identified with a heterozygous missense variant c.865G>A (p.Val289Met).\r\n\r\nThis was also supported by results from functional studies, where cell lines with the loss-of-function variant generated by CRISPR-Cas9 showed reduced cell proliferation and osteoblast differentiation in comparison to wild-type. The expression of genes in the Wnt canonical and non-canonical pathways was inhibited in these mutant cells. \nSources: Literature","entity_name":"WNT11","entity_type":"gene"},{"created":"2023-02-18T14:09:15.376028+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.671","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNT11 as ready","entity_name":"WNT11","entity_type":"gene"},{"created":"2023-02-18T14:09:15.364317+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.671","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt11 has been classified as Green List (High Evidence).","entity_name":"WNT11","entity_type":"gene"},{"created":"2023-02-18T14:08:17.152402+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.671","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WNT11 as Green List (high evidence)","entity_name":"WNT11","entity_type":"gene"},{"created":"2023-02-18T14:08:17.144973+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.671","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt11 has been classified as Green List (High Evidence).","entity_name":"WNT11","entity_type":"gene"},{"created":"2023-02-18T14:06:18.065960+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.670","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MRPS7 were set to 25556185","entity_name":"MRPS7","entity_type":"gene"},{"created":"2023-02-18T14:05:51.161349+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.669","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MRPS7 as Amber List (moderate evidence)","entity_name":"MRPS7","entity_type":"gene"},{"created":"2023-02-18T14:05:51.153741+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.669","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrps7 has been classified as Amber List (Moderate Evidence).","entity_name":"MRPS7","entity_type":"gene"},{"created":"2023-02-18T14:05:32.994291+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.668","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MRPS7: Added comment: Now second publication (PMID: 36421788) describes sisters with an overlapping phenotype including sensorineural deafness and premature ovarian insufficiency. They both had compound heterozygous (one missense, one nonsense) MRPS7 variants.; Changed rating: AMBER; Changed publications: 25556185, 36421788","entity_name":"MRPS7","entity_type":"gene"},{"created":"2023-02-18T14:04:41.594860+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.856","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MRPS7 were set to 25556185","entity_name":"MRPS7","entity_type":"gene"},{"created":"2023-02-18T14:04:04.193836+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.855","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MRPS7 as Amber List (moderate evidence)","entity_name":"MRPS7","entity_type":"gene"},{"created":"2023-02-18T14:04:04.182279+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.855","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrps7 has been classified as Amber List (Moderate Evidence).","entity_name":"MRPS7","entity_type":"gene"},{"created":"2023-02-18T14:03:25.170003+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRPS7 as ready","entity_name":"MRPS7","entity_type":"gene"},{"created":"2023-02-18T14:03:25.161733+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrps7 has been classified as Amber List (Moderate Evidence).","entity_name":"MRPS7","entity_type":"gene"},{"created":"2023-02-18T14:03:22.149843+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPS7 were changed from sensorineural deafness; renal failure; liver failure; primary ovarian insufficiency to Combined oxidative phosphorylation deficiency 34, MIM# 617872; sensorineural deafness; renal failure; liver failure; primary ovarian insufficiency","entity_name":"MRPS7","entity_type":"gene"},{"created":"2023-02-18T14:02:58.429403+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.308","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MRPS7 as Amber List (moderate evidence)","entity_name":"MRPS7","entity_type":"gene"},{"created":"2023-02-18T14:02:58.417273+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.308","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrps7 has been classified as Amber List (Moderate Evidence).","entity_name":"MRPS7","entity_type":"gene"},{"created":"2023-02-18T13:59:59.758558+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.668","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAT6 as ready","entity_name":"STAT6","entity_type":"gene"},{"created":"2023-02-18T13:59:59.748859+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.668","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stat6 has been classified as Green List (High Evidence).","entity_name":"STAT6","entity_type":"gene"},{"created":"2023-02-18T13:59:41.818071+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.668","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STAT6 as Green List (high evidence)","entity_name":"STAT6","entity_type":"gene"},{"created":"2023-02-18T13:59:41.811198+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.668","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stat6 has been classified as Green List (High Evidence).","entity_name":"STAT6","entity_type":"gene"},{"created":"2023-02-18T13:59:22.056941+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.667","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STAT6 was added\ngene: STAT6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: STAT6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: STAT6 were set to 36216080; 36758835\nPhenotypes for gene: STAT6 were set to Allergic disease, MONDO:0005271, STAT6-related; early-onset multiorgan allergies\nReview for gene: STAT6 was set to GREEN\nAdded comment: Two families reported with GoF variants and extensive functional data. \nSources: Literature","entity_name":"STAT6","entity_type":"gene"},{"created":"2023-02-18T13:56:22.656968+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAT6 as ready","entity_name":"STAT6","entity_type":"gene"},{"created":"2023-02-18T13:56:22.648006+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stat6 has been classified as Green List (High Evidence).","entity_name":"STAT6","entity_type":"gene"},{"created":"2023-02-18T13:56:12.100530+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAT6 were changed from early-onset multiorgan allergies to Allergic disease, MONDO:0005271, STAT6-related; early-onset multiorgan allergies","entity_name":"STAT6","entity_type":"gene"},{"created":"2023-02-18T13:54:46.195651+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STAT6 as Green List (high evidence)","entity_name":"STAT6","entity_type":"gene"}]}