{"count":220263,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1424","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1422","results":[{"created":"2021-02-03T21:15:48.611858+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLIS3 were set to 26259131; 16715098","entity_name":"GLIS3","entity_type":"gene"},{"created":"2021-02-03T21:15:32.890704+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26259131, 16715098, 30555422, 28253873; Phenotypes: Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM# 610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GLIS3","entity_type":"gene"},{"created":"2021-02-03T21:12:24.242199+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXE1 were changed from Bamforth Lazarus syndrome, 241850 (hypothyroidism); Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850 to Bamforth Lazarus syndrome, MIM#241850 (hypothyroidism); Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850","entity_name":"FOXE1","entity_type":"gene"},{"created":"2021-02-03T21:12:03.016239+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXE1 were set to 20484477; 9697705; 24219130 (gain-of-function mutation); 9697704 (mouse model)","entity_name":"FOXE1","entity_type":"gene"},{"created":"2021-02-03T21:10:57.965185+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28928994, 28455095, 9697705], 12165566, 16882747; Phenotypes: Bamforth-Lazarus syndrome, MIM# 241850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FOXE1","entity_type":"gene"},{"created":"2021-02-03T20:44:28.778353+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DUOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 5, MIM# 274900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DUOXA2","entity_type":"gene"},{"created":"2021-02-03T20:43:49.439257+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DUOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 6, MIM# 607200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DUOX2","entity_type":"gene"},{"created":"2021-02-03T20:42:44.343145+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease","entity_name":null,"entity_type":null},{"created":"2021-02-03T20:41:22.156228+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6207","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTF2 as ready","entity_name":"TTF2","entity_type":"gene"},{"created":"2021-02-03T20:41:22.147515+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttf2 has been classified as Red List (Low Evidence).","entity_name":"TTF2","entity_type":"gene"},{"created":"2021-02-03T20:41:11.560236+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6207","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TTF2 was added\ngene: TTF2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: TTF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TTF2 were set to 30022773\nPhenotypes for gene: TTF2 were set to congenital hypothyroidism, thyroid dysgenesis, No OMIM #\nReview for gene: TTF2 was set to RED\nAdded comment: 1 case only \nSources: Expert Review","entity_name":"TTF2","entity_type":"gene"},{"created":"2021-02-03T20:39:36.423331+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTF2 as ready","entity_name":"TTF2","entity_type":"gene"},{"created":"2021-02-03T20:39:36.411540+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttf2 has been classified as Red List (Low Evidence).","entity_name":"TTF2","entity_type":"gene"},{"created":"2021-02-03T20:39:16.917389+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GATA6 as ready","entity_name":"GATA6","entity_type":"gene"},{"created":"2021-02-03T20:39:16.909627+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gata6 has been classified as Amber List (Moderate Evidence).","entity_name":"GATA6","entity_type":"gene"},{"created":"2021-02-03T20:38:52.257398+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6206","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DUOXA1 as ready","entity_name":"DUOXA1","entity_type":"gene"},{"created":"2021-02-03T20:38:52.247417+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6206","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: duoxa1 has been classified as Amber List (Moderate Evidence).","entity_name":"DUOXA1","entity_type":"gene"},{"created":"2021-02-03T20:38:38.629379+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6206","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DUOXA1 as Amber List (moderate evidence)","entity_name":"DUOXA1","entity_type":"gene"},{"created":"2021-02-03T20:38:38.616071+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6206","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: duoxa1 has been classified as Amber List (Moderate Evidence).","entity_name":"DUOXA1","entity_type":"gene"},{"created":"2021-02-03T20:38:20.359217+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6205","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DUOXA1 was added\ngene: DUOXA1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: DUOXA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DUOXA1 were set to 29650690\nPhenotypes for gene: DUOXA1 were set to congenital hypothyroidism, No OMIM #\nReview for gene: DUOXA1 was set to AMBER\nAdded comment: 12 cases, but digenic model with variants in other genes \nSources: Expert Review","entity_name":"DUOXA1","entity_type":"gene"},{"created":"2021-02-03T20:36:45.207676+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DUOXA1 as ready","entity_name":"DUOXA1","entity_type":"gene"},{"created":"2021-02-03T20:36:45.200489+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: duoxa1 has been classified as Amber List (Moderate Evidence).","entity_name":"DUOXA1","entity_type":"gene"},{"created":"2021-02-03T20:36:10.956508+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6204","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DUOX1 as ready","entity_name":"DUOX1","entity_type":"gene"},{"created":"2021-02-03T20:36:10.948402+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: duox1 has been classified as Amber List (Moderate Evidence).","entity_name":"DUOX1","entity_type":"gene"},{"created":"2021-02-03T20:36:00.971174+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6204","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DUOX1 as Amber List (moderate evidence)","entity_name":"DUOX1","entity_type":"gene"},{"created":"2021-02-03T20:36:00.960645+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: duox1 has been classified as Amber List (Moderate Evidence).","entity_name":"DUOX1","entity_type":"gene"},{"created":"2021-02-03T20:35:41.107468+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6203","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DUOX1 was added\ngene: DUOX1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: DUOX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DUOX1 were set to 29650690\nPhenotypes for gene: DUOX1 were set to congenital hypothyroidism, No OMIM #\nReview for gene: DUOX1 was set to AMBER\nAdded comment: 11 cases, but digenic model, with variants in other genes. \nSources: Expert Review","entity_name":"DUOX1","entity_type":"gene"},{"created":"2021-02-03T20:33:15.174864+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DUOX1 as ready","entity_name":"DUOX1","entity_type":"gene"},{"created":"2021-02-03T20:33:15.164971+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: duox1 has been classified as Amber List (Moderate Evidence).","entity_name":"DUOX1","entity_type":"gene"},{"created":"2021-02-03T20:32:48.580780+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6202","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTF1 as ready","entity_name":"TTF1","entity_type":"gene"},{"created":"2021-02-03T20:32:48.570486+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6202","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttf1 has been classified as Amber List (Moderate Evidence).","entity_name":"TTF1","entity_type":"gene"},{"created":"2021-02-03T20:32:41.199802+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6202","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TTF1 were changed from  to congenital hypothyroidism, thyroid dysgenesis, No OMIM #","entity_name":"TTF1","entity_type":"gene"},{"created":"2021-02-03T20:32:18.642471+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6201","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TTF1 were set to ","entity_name":"TTF1","entity_type":"gene"},{"created":"2021-02-03T20:31:59.439910+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6200","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TTF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TTF1","entity_type":"gene"},{"created":"2021-02-03T20:31:41.201586+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6199","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TTF1 as Amber List (moderate evidence)","entity_name":"TTF1","entity_type":"gene"},{"created":"2021-02-03T20:31:41.193783+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6199","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttf1 has been classified as Amber List (Moderate Evidence).","entity_name":"TTF1","entity_type":"gene"},{"created":"2021-02-03T20:31:22.921561+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6198","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TTF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30022773; Phenotypes: congenital hypothyroidism, thyroid dysgenesis, No OMIM #; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TTF1","entity_type":"gene"},{"created":"2021-02-03T20:29:37.318250+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTF1 as ready","entity_name":"TTF1","entity_type":"gene"},{"created":"2021-02-03T20:29:37.313430+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Targeted sequencing panel study.","entity_name":"TTF1","entity_type":"gene"},{"created":"2021-02-03T20:29:37.271354+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttf1 has been classified as Amber List (Moderate Evidence).","entity_name":"TTF1","entity_type":"gene"},{"created":"2021-02-03T20:28:13.376505+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBB1 as ready","entity_name":"TUBB1","entity_type":"gene"},{"created":"2021-02-03T20:28:13.373136+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Green for mono allelic variants, limited evidence for bi-allelic variants.","entity_name":"TUBB1","entity_type":"gene"},{"created":"2021-02-03T20:28:13.347254+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubb1 has been classified as Green List (High Evidence).","entity_name":"TUBB1","entity_type":"gene"},{"created":"2021-02-03T20:27:51.311273+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBB1 were changed from Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets to Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112; Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets","entity_name":"TUBB1","entity_type":"gene"},{"created":"2021-02-03T20:27:37.664538+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBB1 were set to 30446499","entity_name":"TUBB1","entity_type":"gene"},{"created":"2021-02-03T20:25:49.447946+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NKX2-5 as ready","entity_name":"NKX2-5","entity_type":"gene"},{"created":"2021-02-03T20:25:49.438153+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nkx2-5 has been classified as Green List (High Evidence).","entity_name":"NKX2-5","entity_type":"gene"},{"created":"2021-02-03T20:25:18.367224+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6198","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDCA8 as ready","entity_name":"CDCA8","entity_type":"gene"},{"created":"2021-02-03T20:25:18.357740+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6198","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdca8 has been classified as Green List (High Evidence).","entity_name":"CDCA8","entity_type":"gene"},{"created":"2021-02-03T20:25:09.303639+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6198","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDCA8 as Green List (high evidence)","entity_name":"CDCA8","entity_type":"gene"},{"created":"2021-02-03T20:25:09.296039+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6198","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdca8 has been classified as Green List (High Evidence).","entity_name":"CDCA8","entity_type":"gene"},{"created":"2021-02-03T20:24:50.716498+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6197","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDCA8 was added\ngene: CDCA8 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: CDCA8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CDCA8 were set to 28025328; 29546359\nPhenotypes for gene: CDCA8 were set to Congenital hypothyroidism, thyroid dysgenesis, no OMIM #\nMode of pathogenicity for gene: CDCA8 was set to Other\nReview for gene: CDCA8 was set to GREEN\nAdded comment: 4 families (1 with bilallelic variants [parent affected as HTZ], 3 with monoallelic variants) with functional evidence of variants. GREEN for mono allelic, RED for biallelic. \nSources: Expert Review","entity_name":"CDCA8","entity_type":"gene"},{"created":"2021-02-03T20:22:25.327536+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDCA8 as ready","entity_name":"CDCA8","entity_type":"gene"},{"created":"2021-02-03T20:22:25.320203+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdca8 has been classified as Green List (High Evidence).","entity_name":"CDCA8","entity_type":"gene"},{"created":"2021-02-03T15:34:52.609862+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.19","user_name":"Chirag Patel","item_type":"entity","text":"gene: TTF2 was added\ngene: TTF2 was added to Congenital hypothyroidism. Sources: Literature\nMode of inheritance for gene: TTF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TTF2 were set to PMID: 30022773\nPhenotypes for gene: TTF2 were set to congenital hypothyroidism, thyroid dysgenesis, No OMIM #\nReview for gene: TTF2 was set to RED\nAdded comment: 1 case only \nSources: Literature","entity_name":"TTF2","entity_type":"gene"},{"created":"2021-02-03T15:34:17.507950+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.18","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: GATA6 as Amber List (moderate evidence)","entity_name":"GATA6","entity_type":"gene"},{"created":"2021-02-03T15:34:17.500792+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.18","user_name":"Chirag Patel","item_type":"entity","text":"Gene: gata6 has been classified as Amber List (Moderate Evidence).","entity_name":"GATA6","entity_type":"gene"},{"created":"2021-02-03T15:34:10.501508+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.17","user_name":"Chirag Patel","item_type":"entity","text":"gene: GATA6 was added\ngene: GATA6 was added to Congenital hypothyroidism. Sources: Literature\nMode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GATA6 were set to PMID: 31271559, 32207556\nPhenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects, OMIM# 600001\nReview for gene: GATA6 was set to AMBER\nAdded comment: 2 cases with congenital hypothyroidism so expansion of phenotype \nSources: Literature","entity_name":"GATA6","entity_type":"gene"},{"created":"2021-02-03T15:32:44.064042+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.16","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DUOXA1 as Amber List (moderate evidence)","entity_name":"DUOXA1","entity_type":"gene"},{"created":"2021-02-03T15:32:44.053835+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.16","user_name":"Chirag Patel","item_type":"entity","text":"Gene: duoxa1 has been classified as Amber List (Moderate Evidence).","entity_name":"DUOXA1","entity_type":"gene"},{"created":"2021-02-03T15:32:38.215536+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.15","user_name":"Chirag Patel","item_type":"entity","text":"gene: DUOXA1 was added\ngene: DUOXA1 was added to Congenital hypothyroidism. Sources: Literature\nMode of inheritance for gene: DUOXA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DUOXA1 were set to PMID: 29650690\nPhenotypes for gene: DUOXA1 were set to congenital hypothyroidism, No OMIM #\nReview for gene: DUOXA1 was set to AMBER\nAdded comment: 12 cases, but digenic model with variants in other genes \nSources: Literature","entity_name":"DUOXA1","entity_type":"gene"},{"created":"2021-02-03T15:31:40.221934+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.14","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DUOX1 as Amber List (moderate evidence)","entity_name":"DUOX1","entity_type":"gene"},{"created":"2021-02-03T15:31:40.211569+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.14","user_name":"Chirag Patel","item_type":"entity","text":"Gene: duox1 has been classified as Amber List (Moderate Evidence).","entity_name":"DUOX1","entity_type":"gene"},{"created":"2021-02-03T15:31:33.630190+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.13","user_name":"Chirag Patel","item_type":"entity","text":"gene: DUOX1 was added\ngene: DUOX1 was added to Congenital hypothyroidism. Sources: Literature\nMode of inheritance for gene: DUOX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DUOX1 were set to PMID: 29650690\nPhenotypes for gene: DUOX1 were set to congenital hypothyroidism, No OMIM #\nAdded comment: 11 cases, but digenic model, with variants in other genes \nSources: Literature","entity_name":"DUOX1","entity_type":"gene"},{"created":"2021-02-03T15:30:35.331492+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.12","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TTF1 as Amber List (moderate evidence)","entity_name":"TTF1","entity_type":"gene"},{"created":"2021-02-03T15:30:35.321377+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.12","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ttf1 has been classified as Amber List (Moderate Evidence).","entity_name":"TTF1","entity_type":"gene"},{"created":"2021-02-03T15:30:27.832673+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.11","user_name":"Chirag Patel","item_type":"entity","text":"gene: TTF1 was added\ngene: TTF1 was added to Congenital hypothyroidism. Sources: Literature\nMode of inheritance for gene: TTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TTF1 were set to PMID: 30022773\nPhenotypes for gene: TTF1 were set to congenital hypothyroidism, thyroid dysgenesis, No OMIM #\nReview for gene: TTF1 was set to AMBER\nAdded comment: 5 cases, but one paper with limited additional evidence \nSources: Literature","entity_name":"TTF1","entity_type":"gene"},{"created":"2021-02-03T15:29:44.202734+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.10","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TUBB1 as Green List (high evidence)","entity_name":"TUBB1","entity_type":"gene"},{"created":"2021-02-03T15:29:44.192518+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.10","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tubb1 has been classified as Green List (High Evidence).","entity_name":"TUBB1","entity_type":"gene"},{"created":"2021-02-03T15:29:33.175593+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30446499, 31642429; Phenotypes: Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TUBB1","entity_type":"gene"},{"created":"2021-02-03T15:10:26.211344+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NKX2-5 as Green List (high evidence)","entity_name":"NKX2-5","entity_type":"gene"},{"created":"2021-02-03T15:10:26.198519+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nkx2-5 has been classified as Green List (High Evidence).","entity_name":"NKX2-5","entity_type":"gene"},{"created":"2021-02-03T15:10:18.940205+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.8","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16418214, 28749785, 27373559, 30022773; Phenotypes: Hypothyroidism, congenital nongoitrous, 5, OMIM # 225250, thyrioid ectopy, thyroid agenesis, congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NKX2-5","entity_type":"gene"},{"created":"2021-02-03T15:09:17.779853+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.8","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CDCA8 as Green List (high evidence)","entity_name":"CDCA8","entity_type":"gene"},{"created":"2021-02-03T15:09:17.770191+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.8","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cdca8 has been classified as Green List (High Evidence).","entity_name":"CDCA8","entity_type":"gene"},{"created":"2021-02-03T15:09:10.703693+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.7","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: CDCA8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28025328, 29546359; Phenotypes: Congenital hypothyroidism, thyroid dysgenesis, no OMIM #; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CDCA8","entity_type":"gene"},{"created":"2021-02-03T14:52:00.718868+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NKX2-1 as ready","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2021-02-03T14:52:00.710635+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nkx2-1 has been classified as Green List (High Evidence).","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2021-02-03T14:51:58.192863+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NKX2-1 were changed from Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction, 610978; Congenital hypothyroidism; Neurological abnormalities; CAHTP; neonatal respiratory distress syndrome; recurrent respiratory infections; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978; benign hereditary chorea to Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction, 610978","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2021-02-03T14:51:11.453072+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC16A2 as ready","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2021-02-03T14:51:11.442275+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc16a2 has been classified as Green List (High Evidence).","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2021-02-03T14:51:09.143957+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC16A2 were changed from MENTAL RETARDATION AND MUSCULAR ATROPHY; T3 RESISTANCE; MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; Monocarboxylate transporter 8 (MCT8) defect; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; TRIIODOTHYRONINE RESISTANCE; AHDS; Allan_Herndon_Dudley Syndrome; ALLAN-HERNDON SYNDROME; mental retardation, X-linked, with hypotonia; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; Allan-Herndon-Dudley syndrome; ALLAN-HERNDON-DUDLEY SYNDROME; Allan-Herndon-Dudley syndrome, 300523; monocarboxylate transporter 8 (MCT8) deficiency; Allan-Herndon-Dudley Syndrome; 300523 to Allan-Herndon-Dudley syndrome, MIM#\t300523","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2021-02-03T14:50:17.217662+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXE1 as ready","entity_name":"FOXE1","entity_type":"gene"},{"created":"2021-02-03T14:50:17.207732+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxe1 has been classified as Green List (High Evidence).","entity_name":"FOXE1","entity_type":"gene"},{"created":"2021-02-03T14:50:14.658878+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXE1 were changed from choanal atresia; congenital hypothyroidism; Bamforth Lazarus syndrome, 241850 (hypothyroidism); spiky hair; thyroid agenesis; Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850; cleft palate to Bamforth Lazarus syndrome, 241850 (hypothyroidism); Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850","entity_name":"FOXE1","entity_type":"gene"},{"created":"2021-02-03T14:49:34.798614+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DUOXA2 as ready","entity_name":"DUOXA2","entity_type":"gene"},{"created":"2021-02-03T14:49:34.788184+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: duoxa2 has been classified as Green List (High Evidence).","entity_name":"DUOXA2","entity_type":"gene"},{"created":"2021-02-03T14:49:32.727454+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DUOXA2 were changed from transient congenital hypothyroidism; mild congenital hypothyroidism; eutopic gland-in-situ; Thyroid dyshormonogenesis 5, 274900; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5 to Thyroid dyshormonogenesis 5, 274900","entity_name":"DUOXA2","entity_type":"gene"},{"created":"2021-02-03T14:47:06.781948+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DUOX2 as ready","entity_name":"DUOX2","entity_type":"gene"},{"created":"2021-02-03T14:47:06.773855+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: duox2 has been classified as Green List (High Evidence).","entity_name":"DUOX2","entity_type":"gene"},{"created":"2021-02-03T14:47:04.188996+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DUOX2 were changed from transient congenital hypothyroidism; borderline congenital hypothyroidism; iodide organification defect; Congenital hypothyroidism; Thryoid dyshormonogenesis 6, 607200; goitre; eutopic gland-in-situ; permanent congenital hypothyroidism to Thyroid dyshormonogenesis 6, 607200","entity_name":"DUOX2","entity_type":"gene"},{"created":"2021-02-03T14:45:46.723320+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"panel","text":"Panel status changed from internal to public\nPanel types changed to Genetic Health Queensland; Rare Disease","entity_name":null,"entity_type":null},{"created":"2021-02-03T14:45:11.458382+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SOX3 was added\ngene: SOX3 was added to Congenital hypothyroidism. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SOX3 were set to 15800844; 12428212; 26416826 (2015 review)\nPhenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked, MONDO:0010712; Panhypopituitarism, X-linked, OMIM:312000; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123","entity_name":"SOX3","entity_type":"gene"},{"created":"2021-02-03T14:45:11.420020+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBB1 was added\ngene: TUBB1 was added to Congenital hypothyroidism. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TUBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TUBB1 were set to 30446499\nPhenotypes for gene: TUBB1 were set to Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets","entity_name":"TUBB1","entity_type":"gene"},{"created":"2021-02-03T14:45:11.380714+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NKX2-5 was added\ngene: NKX2-5 was added to Congenital hypothyroidism. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NKX2-5 were set to 16418214\nPhenotypes for gene: NKX2-5 were set to Hypothyroidism, congenital nongoitrous, 5, 225250; thyrioid ectopy, thyroid agenesis, congenital heart disease\nMode of pathogenicity for gene: NKX2-5 was set to Other - please provide details in the comments","entity_name":"NKX2-5","entity_type":"gene"},{"created":"2021-02-03T14:45:11.342549+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDCA8 was added\ngene: CDCA8 was added to Congenital hypothyroidism. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CDCA8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CDCA8 were set to 28025328; 29546359\nPhenotypes for gene: CDCA8 were set to Congenital hypothyroidism; No OMIM number; thyroid dysgenesis\nMode of pathogenicity for gene: CDCA8 was set to Other","entity_name":"CDCA8","entity_type":"gene"},{"created":"2021-02-03T14:45:11.300201+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TSHR was added\ngene: TSHR was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: TSHR were set to 16060907 (Camilot et al., 2005 report subclinical hypothyroid subjects with heterozygous substitutions; 22876533; 7528344; PMID:17526952 (Kanda et al., 2006) examine Japanese patients homozygous and heterozygous for the R450H mutation in the TSHR gene. Homozygous subjects displayed mild hypothyroidism/ Heterozygous patients also demonstrated hypothyroidism, but less severe than that of homozygous subjects.; 27525530 (Nicholas et al.,2016) identify a monogenic basis of disease.; PMID:14725684 (Park et al. 2004) suggest that heterozygosity for an inactivating TSHR mutation may be associated with compensated hypothyroidism and thyroid hypoplasia\nPhenotypes for gene: TSHR were set to Hypothyroidism, congenital, nongoitrous, 1 275200; thyroid dysgenesis; Congenital hypothyroidism; thyroid hypoplasia; compensated hypothryoidism; subclinical hypothyroidism; Hypothyroidism, Congenital, Nongoitrous, 1, 275200; eutopic gland-in-situ; TSH resistance","entity_name":"TSHR","entity_type":"gene"},{"created":"2021-02-03T14:45:11.261831+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TSHB was added\ngene: TSHB was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TSHB were set to 2792087; 27362444\nPhenotypes for gene: TSHB were set to Congenital hypothyroidism; Hypothryoidism, congenital, nongoitrous 4, 275100; severe isolated central hypothyroidism","entity_name":"TSHB","entity_type":"gene"},{"created":"2021-02-03T14:45:11.221363+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRHR was added\ngene: TRHR was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: TRHR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRHR were set to PMID: 19213692; PMID: 9141550\nPhenotypes for gene: TRHR were set to mild-moderate isolated central hypothyroidism; absent TSH and prolactin response to TRH; Thyrotropin-releasing hormone resistance, generalized","entity_name":"TRHR","entity_type":"gene"},{"created":"2021-02-03T14:45:11.181542+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TPO was added\ngene: TPO was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPO were set to 12938097; 27166716; 8964831; 11061528; 8027236; 27525530 (Nicholas et al.,2016) identify a monogenic basis of disease\nPhenotypes for gene: TPO were set to Congenital hypothyroidism; Iodide organification defect; goitre; TDH2A; Thyroid dyshormonogenesis 2A,  274500","entity_name":"TPO","entity_type":"gene"}]}