{"count":220842,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=718","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=716","results":[{"created":"2022-10-10T18:40:02.314165+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CYP17A1.","entity_name":"CYP17A1","entity_type":"gene"},{"created":"2022-10-10T18:38:57.996499+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.529","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP17A1 as ready","entity_name":"CYP17A1","entity_type":"gene"},{"created":"2022-10-10T18:38:57.987824+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.529","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp17a1 has been classified as Green List (High Evidence).","entity_name":"CYP17A1","entity_type":"gene"},{"created":"2022-10-10T18:38:50.228155+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.529","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CYP17A1.","entity_name":"CYP17A1","entity_type":"gene"},{"created":"2022-10-10T18:38:41.399943+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.529","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP17A1","entity_type":"gene"},{"created":"2022-10-10T18:37:40.528921+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.529","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP11B2 as ready","entity_name":"CYP11B2","entity_type":"gene"},{"created":"2022-10-10T18:37:40.508674+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.529","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp11b2 has been classified as Green List (High Evidence).","entity_name":"CYP11B2","entity_type":"gene"},{"created":"2022-10-10T18:37:26.437999+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CYP11B2.","entity_name":"CYP11B2","entity_type":"gene"},{"created":"2022-10-10T18:37:07.858964+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.396","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CYP11B2.","entity_name":"CYP11B2","entity_type":"gene"},{"created":"2022-10-10T18:36:42.493931+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.529","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CYP11B2.","entity_name":"CYP11B2","entity_type":"gene"},{"created":"2022-10-10T18:36:33.050773+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.529","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP11B2","entity_type":"gene"},{"created":"2022-10-10T18:35:47.051412+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.529","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: CYP11A1.\nTag treatable tag was added to gene: CYP11A1.","entity_name":"CYP11A1","entity_type":"gene"},{"created":"2022-10-10T18:35:35.511123+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.529","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP11A1","entity_type":"gene"},{"created":"2022-10-10T18:33:55.104406+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CYP11B1.","entity_name":"CYP11B1","entity_type":"gene"},{"created":"2022-10-10T18:33:34.015185+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.396","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CYP11B1.","entity_name":"CYP11B1","entity_type":"gene"},{"created":"2022-10-10T18:33:19.476873+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CYP11B1.","entity_name":"CYP11B1","entity_type":"gene"},{"created":"2022-10-10T18:32:58.295765+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.529","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP11B1 as ready","entity_name":"CYP11B1","entity_type":"gene"},{"created":"2022-10-10T18:32:58.286103+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.529","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp11b1 has been classified as Green List (High Evidence).","entity_name":"CYP11B1","entity_type":"gene"},{"created":"2022-10-10T18:32:52.871159+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.529","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CYP11B1 were set to ","entity_name":"CYP11B1","entity_type":"gene"},{"created":"2022-10-10T18:32:41.185792+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.528","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CYP11B1.","entity_name":"CYP11B1","entity_type":"gene"},{"created":"2022-10-10T18:32:32.215486+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.528","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP11B1","entity_type":"gene"},{"created":"2022-10-10T18:31:12.580289+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CUBN.","entity_name":"CUBN","entity_type":"gene"},{"created":"2022-10-10T18:30:57.974916+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CUBN.","entity_name":"CUBN","entity_type":"gene"},{"created":"2022-10-10T18:30:44.426005+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CUBN.","entity_name":"CUBN","entity_type":"gene"},{"created":"2022-10-10T18:30:17.047864+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.396","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CUBN.","entity_name":"CUBN","entity_type":"gene"},{"created":"2022-10-10T18:29:57.265784+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.528","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CUBN as ready","entity_name":"CUBN","entity_type":"gene"},{"created":"2022-10-10T18:29:57.247447+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.528","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cubn has been classified as Green List (High Evidence).","entity_name":"CUBN","entity_type":"gene"},{"created":"2022-10-10T18:29:40.656688+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.528","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CUBN.","entity_name":"CUBN","entity_type":"gene"},{"created":"2022-10-10T18:29:29.293772+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.528","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Imerslund-Grasbeck syndrome 1 MIM#261100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CUBN","entity_type":"gene"},{"created":"2022-10-10T18:27:29.132321+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.528","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTSD as ready","entity_name":"CTSD","entity_type":"gene"},{"created":"2022-10-10T18:27:29.123300+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.528","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctsd has been classified as Red List (Low Evidence).","entity_name":"CTSD","entity_type":"gene"},{"created":"2022-10-10T18:27:25.657486+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.528","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTSD were changed from Ceroid lipofuscinosis, neuronal, 10 to Ceroid lipofuscinosis, neuronal, 10, MIM# 610127","entity_name":"CTSD","entity_type":"gene"},{"created":"2022-10-10T18:27:12.913230+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.527","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTSD as Red List (low evidence)","entity_name":"CTSD","entity_type":"gene"},{"created":"2022-10-10T18:27:12.904948+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.527","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctsd has been classified as Red List (Low Evidence).","entity_name":"CTSD","entity_type":"gene"},{"created":"2022-10-10T18:27:01.099116+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.526","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CTSD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTSD","entity_type":"gene"},{"created":"2022-10-10T18:24:49.369847+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.526","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTNS as ready","entity_name":"CTNS","entity_type":"gene"},{"created":"2022-10-10T18:24:49.362108+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.526","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctns has been classified as Green List (High Evidence).","entity_name":"CTNS","entity_type":"gene"},{"created":"2022-10-10T18:24:45.436428+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.526","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTNS were changed from Cystinosis to Cystinosis, nephropathic MIM#219800","entity_name":"CTNS","entity_type":"gene"},{"created":"2022-10-10T18:23:46.185121+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CTNS.","entity_name":"CTNS","entity_type":"gene"},{"created":"2022-10-10T18:23:23.276175+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.396","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CTNS.","entity_name":"CTNS","entity_type":"gene"},{"created":"2022-10-10T18:23:01.371872+11:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CTNS.","entity_name":"CTNS","entity_type":"gene"},{"created":"2022-10-10T18:22:41.206988+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.525","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CTNS.","entity_name":"CTNS","entity_type":"gene"},{"created":"2022-10-10T18:22:32.338971+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.525","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinosis, nephropathic MIM#219800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTNS","entity_type":"gene"},{"created":"2022-10-10T18:18:48.609609+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CPS1.","entity_name":"CPS1","entity_type":"gene"},{"created":"2022-10-10T18:18:32.581438+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4987","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CPS1.","entity_name":"CPS1","entity_type":"gene"},{"created":"2022-10-10T18:18:01.577989+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.396","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CPS1.","entity_name":"CPS1","entity_type":"gene"},{"created":"2022-10-10T18:17:34.363001+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.525","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CPS1 as ready","entity_name":"CPS1","entity_type":"gene"},{"created":"2022-10-10T18:17:34.344193+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.525","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cps1 has been classified as Green List (High Evidence).","entity_name":"CPS1","entity_type":"gene"},{"created":"2022-10-10T18:17:29.165019+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.525","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CPS1 were set to ","entity_name":"CPS1","entity_type":"gene"},{"created":"2022-10-10T18:16:53.177781+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CPS1.","entity_name":"CPS1","entity_type":"gene"},{"created":"2022-10-10T18:16:43.908581+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28281899; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CPS1","entity_type":"gene"},{"created":"2022-10-10T18:13:34.464738+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: COQ9.","entity_name":"COQ9","entity_type":"gene"},{"created":"2022-10-10T18:13:23.204495+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COQ9: Added comment: Listed as treatable on rx-genes based on expert opinion. For review.; Changed rating: AMBER","entity_name":"COQ9","entity_type":"gene"},{"created":"2022-10-10T18:11:41.397538+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COQ9 as ready","entity_name":"COQ9","entity_type":"gene"},{"created":"2022-10-10T18:11:41.385769+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coq9 has been classified as Red List (Low Evidence).","entity_name":"COQ9","entity_type":"gene"},{"created":"2022-10-10T18:11:34.103757+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COQ9 as Red List (low evidence)","entity_name":"COQ9","entity_type":"gene"},{"created":"2022-10-10T18:11:34.096036+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coq9 has been classified as Red List (Low Evidence).","entity_name":"COQ9","entity_type":"gene"},{"created":"2022-10-10T18:11:21.129519+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.523","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COQ9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM#614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COQ9","entity_type":"gene"},{"created":"2022-10-10T17:45:54.755637+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.523","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: DPAGT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2022-10-10T17:37:16.762532+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.523","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: DOLK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOLK","entity_type":"gene"},{"created":"2022-10-10T17:22:51.877734+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.523","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: DLD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neuroregresson, lactic acidosis, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DLD","entity_type":"gene"},{"created":"2022-10-10T17:21:09.194086+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.396","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TOMM7 as ready","entity_name":"TOMM7","entity_type":"gene"},{"created":"2022-10-10T17:21:09.184155+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.396","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tomm7 has been classified as Amber List (Moderate Evidence).","entity_name":"TOMM7","entity_type":"gene"},{"created":"2022-10-10T17:17:44.105686+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.396","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TOMM7 as Amber List (moderate evidence)","entity_name":"TOMM7","entity_type":"gene"},{"created":"2022-10-10T17:17:44.097136+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.396","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tomm7 has been classified as Amber List (Moderate Evidence).","entity_name":"TOMM7","entity_type":"gene"},{"created":"2022-10-10T17:13:30.730117+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.395","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TOMM7 was added\ngene: TOMM7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148\nPhenotypes for gene: TOMM7 were set to growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy MONDO:0014911\nReview for gene: TOMM7 was set to AMBER\nAdded comment: A single case identified with a homozygous variant in TOMM7 (c.73T>C, p.Trp25Arg) that presented with syndromic short stature, skeletal abnormalities, muscle hypotonia, microvesicular liver steatosis, and developmental delay. A mouse model of the missense variant demonstrated a bioenergetic defect and a phenotype of mitochondrial diseases. It also strongly suggested that the variant is hypomorphic because mice homozygous for this variant showed a milder phenotype than those with a homozygous Tomm7 deletion. \nSources: Literature","entity_name":"TOMM7","entity_type":"gene"},{"created":"2022-10-10T16:55:40.366997+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.394","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: HECW2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HECW2","entity_type":"gene"},{"created":"2022-10-10T16:49:02.944038+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.393","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: HECW2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35753050, 35487419; Phenotypes: Neurodevelopmental disorder with hypotonia, seizures, and absent language MONDO:0014995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HECW2","entity_type":"gene"},{"created":"2022-10-10T16:33:12.005624+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.393","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SEPT4 as ready","entity_name":"SEPT4","entity_type":"gene"},{"created":"2022-10-10T16:33:11.992501+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.393","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: sept4 has been classified as Green List (High Evidence).","entity_name":"SEPT4","entity_type":"gene"},{"created":"2022-10-10T16:30:59.839169+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.393","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SEPT4 as Green List (high evidence)","entity_name":"SEPT4","entity_type":"gene"},{"created":"2022-10-10T16:30:59.831219+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.393","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: sept4 has been classified as Green List (High Evidence).","entity_name":"SEPT4","entity_type":"gene"},{"created":"2022-10-10T16:29:25.931144+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.392","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SEPT4 was added\ngene: SEPT4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SEPT4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEPT4 were set to 36135717; 15737931; 15737930\nPhenotypes for gene: SEPT4 were set to male infertility MONDO:0005372\nReview for gene: SEPT4 was set to GREEN\nAdded comment: Two unrelated cases with primary male infertility (asthenoteratozoospermia) from consanguineous Chinsese families with 2 difference homozygous stopgain variants (Patient 1: c.721A>T, p.R241* and Patient 2: c.205C>T, p.R69*). Multiple supporting mouse models where the male mice are sterile. \nSources: Literature","entity_name":"SEPT4","entity_type":"gene"},{"created":"2022-10-10T16:07:14.704020+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.391","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FAM20B as ready","entity_name":"FAM20B","entity_type":"gene"},{"created":"2022-10-10T16:07:14.695461+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.391","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fam20b has been classified as Amber List (Moderate Evidence).","entity_name":"FAM20B","entity_type":"gene"},{"created":"2022-10-10T16:03:57.167732+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.391","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FAM20B as Amber List (moderate evidence)","entity_name":"FAM20B","entity_type":"gene"},{"created":"2022-10-10T16:03:57.158312+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.391","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fam20b has been classified as Amber List (Moderate Evidence).","entity_name":"FAM20B","entity_type":"gene"},{"created":"2022-10-10T16:02:13.571310+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.390","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FAM20B was added\ngene: FAM20B was added to Mendeliome. Sources: Other\nMode of inheritance for gene: FAM20B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM20B were set to 30847897; 30105814; 22732358; 27405802\nPhenotypes for gene: FAM20B were set to Desbuquois dysplasia MONDO:0015426\nReview for gene: FAM20B was set to AMBER\nAdded comment: Two siblings from a single family with neonatal short limb dysplasia resembling Desbuquois dysplasia. One of the siblings underwent genetic testing and compound heterozygous variants were identified in FAM20B ((NM_014864: c.174_178delTACCT p.T59Afs*19/c.1038delG p.N347Mfs*4). Multiple mouse models reported with skeletal abnormalities. \nSources: Other","entity_name":"FAM20B","entity_type":"gene"},{"created":"2022-10-10T14:50:19.016055+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.523","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DHCR7","entity_type":"gene"},{"created":"2022-10-10T14:45:15.018256+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.523","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: DGUOK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: liver failure, ophthalmoplegia, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DGUOK","entity_type":"gene"},{"created":"2022-10-10T14:27:53.565200+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.218","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: EXOC6B as ready","entity_name":"EXOC6B","entity_type":"gene"},{"created":"2022-10-10T14:27:53.555037+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.218","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: exoc6b has been classified as Green List (High Evidence).","entity_name":"EXOC6B","entity_type":"gene"},{"created":"2022-10-10T14:27:46.929508+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.218","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: EXOC6B as Green List (high evidence)","entity_name":"EXOC6B","entity_type":"gene"},{"created":"2022-10-10T14:27:46.921421+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.218","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: exoc6b has been classified as Green List (High Evidence).","entity_name":"EXOC6B","entity_type":"gene"},{"created":"2022-10-10T14:27:14.350924+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.217","user_name":"Bryony Thompson","item_type":"entity","text":"gene: EXOC6B was added\ngene: EXOC6B was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: EXOC6B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOC6B were set to 26669664; 30284759; 36150098\nPhenotypes for gene: EXOC6B were set to Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675\nReview for gene: EXOC6B was set to GREEN\nAdded comment: 6 affected individuals from 4 families, and supporting assays in patient cells\r\nPMID: 26669664 - 2 brothers with spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones from a consanguineous family, with a homozygous nonsense variant [c.906T>A/p.(Tyr302*)]\r\nPMID: 30284759 - 2 sisters with dislocations of the hips and knees, long slender fingers with distal tapering, significant motor disability but normal (older sister) or low-normal intelligence (younger sister), with a homozygous in-frame deletion of exons 9-20\r\nPMID: 36150098 - 2 unrelated probands from consanguineous families, one with a homozygous frameshift exon 20 deletion and one with a homozygous nonsense variant (c.401T>G p.Leu134Ter). Function assessment of patient fibroblast cell lines indicated abrogation of exocytosis leading to impaired primary ciliogenesis \nSources: Literature","entity_name":"EXOC6B","entity_type":"gene"},{"created":"2022-10-10T14:18:17.551974+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.389","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: EXOC6B as ready","entity_name":"EXOC6B","entity_type":"gene"},{"created":"2022-10-10T14:18:17.539096+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.389","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: exoc6b has been classified as Green List (High Evidence).","entity_name":"EXOC6B","entity_type":"gene"},{"created":"2022-10-10T14:16:28.724699+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.389","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: EXOC6B as Green List (high evidence)","entity_name":"EXOC6B","entity_type":"gene"},{"created":"2022-10-10T14:16:28.714786+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.389","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: exoc6b has been classified as Green List (High Evidence).","entity_name":"EXOC6B","entity_type":"gene"},{"created":"2022-10-10T14:16:08.218204+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.388","user_name":"Bryony Thompson","item_type":"entity","text":"gene: EXOC6B was added\ngene: EXOC6B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EXOC6B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOC6B were set to 26669664; 30284759; 36150098\nPhenotypes for gene: EXOC6B were set to Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675\nReview for gene: EXOC6B was set to GREEN\nAdded comment: 6 affected individuals from 4 families, and supporting assays in patient cells\r\nPMID: 26669664 - 2 brothers with spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones from a consanguineous family, with a homozygous nonsense variant [c.906T>A/p.(Tyr302*)] \r\nPMID: 30284759 - 2 sisters with dislocations of the hips and knees, long slender fingers with distal tapering, significant motor disability but normal (older sister) or low-normal intelligence (younger sister), with a homozygous in-frame deletion of exons 9-20\r\nPMID: 36150098 - 2 unrelated probands from consanguineous families, one with a homozygous frameshift exon 20 deletion and one with a homozygous nonsense variant (c.401T>G p.Leu134Ter). Function assessment of patient fibroblast cell lines indicated abrogation of exocytosis leading to impaired primary ciliogenesis \nSources: Literature","entity_name":"EXOC6B","entity_type":"gene"},{"created":"2022-10-10T13:59:34.491976+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.523","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hypotonia, oculogyric crises, temperature instability, ID, autonomic dysfunction, sleep disturbance, choreoathetosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDC","entity_type":"gene"},{"created":"2022-10-10T13:53:35.138486+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.523","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31778854; Phenotypes: intractable diarrhoea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DGAT1","entity_type":"gene"},{"created":"2022-10-10T13:48:12.715094+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.523","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: developmental delay, dysmorphism, epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"D2HGDH","entity_type":"gene"},{"created":"2022-10-10T12:08:47.732960+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.523","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: CYP27B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: rickets; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP27B1","entity_type":"gene"},{"created":"2022-10-10T12:04:30.057134+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.523","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: diarrhoea, cataracts, xanthomas, progressive ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2022-10-10T11:53:41.170887+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.523","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: congenital adrenal hyperplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP17A1","entity_type":"gene"},{"created":"2022-10-10T11:48:28.803244+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.523","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: primary hyperaldosteronism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP11B2","entity_type":"gene"},{"created":"2022-10-10T11:40:21.044115+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.523","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27928728; Phenotypes: congenital adrenal hyperplasia, aldosteronism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CYP11B1","entity_type":"gene"},{"created":"2022-10-10T11:36:46.914790+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.523","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25096886; Phenotypes: congenital adrenal hyperplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP11A1","entity_type":"gene"},{"created":"2022-10-10T11:27:06.668842+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.523","user_name":"John Christodoulou","item_type":"entity","text":"commented on gene: CUBN: defect of intestinal vitamin B12 absorption; treatable with pharmacological doses of parenteral vitamin B12","entity_name":"CUBN","entity_type":"gene"}]}