{"count":220257,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1412","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1410","results":[{"created":"2021-02-13T11:07:01.694985+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ITGA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITGA3","entity_type":"gene"},{"created":"2021-02-13T11:06:32.364451+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22512483, 25810266, 27717396, 32198874, 26854491; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITGA3","entity_type":"gene"},{"created":"2021-02-13T11:03:17.670643+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6334","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FERMT1 as ready","entity_name":"FERMT1","entity_type":"gene"},{"created":"2021-02-13T11:03:17.659692+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6334","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fermt1 has been classified as Green List (High Evidence).","entity_name":"FERMT1","entity_type":"gene"},{"created":"2021-02-13T11:03:09.360489+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6334","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FERMT1 were changed from  to Kindler syndrome, MIM# 173650","entity_name":"FERMT1","entity_type":"gene"},{"created":"2021-02-13T11:02:46.257001+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6333","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FERMT1 were set to ","entity_name":"FERMT1","entity_type":"gene"},{"created":"2021-02-13T11:02:28.254899+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6332","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FERMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FERMT1","entity_type":"gene"},{"created":"2021-02-13T11:02:09.047580+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6331","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FERMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12789646; Phenotypes: Kindler syndrome, MIM# 173650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FERMT1","entity_type":"gene"},{"created":"2021-02-13T11:01:16.444435+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FERMT1 as ready","entity_name":"FERMT1","entity_type":"gene"},{"created":"2021-02-13T11:01:16.433147+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fermt1 has been classified as Green List (High Evidence).","entity_name":"FERMT1","entity_type":"gene"},{"created":"2021-02-13T11:01:13.748632+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FERMT1 were changed from  to Kindler syndrome, MIM# 173650","entity_name":"FERMT1","entity_type":"gene"},{"created":"2021-02-13T11:00:46.638341+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FERMT1 were set to ","entity_name":"FERMT1","entity_type":"gene"},{"created":"2021-02-13T11:00:20.344078+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FERMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FERMT1","entity_type":"gene"},{"created":"2021-02-13T10:59:48.530702+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FERMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12789646; Phenotypes: Kindler syndrome, MIM# 173650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FERMT1","entity_type":"gene"},{"created":"2021-02-12T21:59:40.772505+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXPH5 as ready","entity_name":"EXPH5","entity_type":"gene"},{"created":"2021-02-12T21:59:40.764370+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exph5 has been classified as Green List (High Evidence).","entity_name":"EXPH5","entity_type":"gene"},{"created":"2021-02-12T21:59:35.558116+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6331","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXPH5 as ready","entity_name":"EXPH5","entity_type":"gene"},{"created":"2021-02-12T21:59:35.546905+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6331","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exph5 has been classified as Green List (High Evidence).","entity_name":"EXPH5","entity_type":"gene"},{"created":"2021-02-12T21:59:21.848843+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6331","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXPH5 were changed from  to Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028","entity_name":"EXPH5","entity_type":"gene"},{"created":"2021-02-12T21:58:59.819136+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6330","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EXPH5 were set to ","entity_name":"EXPH5","entity_type":"gene"},{"created":"2021-02-12T21:58:39.402000+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6329","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EXPH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXPH5","entity_type":"gene"},{"created":"2021-02-12T21:58:28.092624+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXPH5 were changed from  to Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028","entity_name":"EXPH5","entity_type":"gene"},{"created":"2021-02-12T21:58:15.029941+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6328","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EXPH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176819, 32176379, 27730671, 27384765; Phenotypes: Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXPH5","entity_type":"gene"},{"created":"2021-02-12T21:58:04.806903+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EXPH5 were set to ","entity_name":"EXPH5","entity_type":"gene"},{"created":"2021-02-12T21:57:27.567515+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EXPH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXPH5","entity_type":"gene"},{"created":"2021-02-12T21:56:54.422062+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EXPH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176819, 32176379, 27730671, 27384765; Phenotypes: Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXPH5","entity_type":"gene"},{"created":"2021-02-12T21:53:51.197629+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DST as ready","entity_name":"DST","entity_type":"gene"},{"created":"2021-02-12T21:53:51.187264+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dst has been classified as Green List (High Evidence).","entity_name":"DST","entity_type":"gene"},{"created":"2021-02-12T21:53:48.408906+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DST were changed from  to Epidermolysis bullosa simplex, autosomal recessive 2, MIM# 615425","entity_name":"DST","entity_type":"gene"},{"created":"2021-02-12T21:53:23.332735+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DST were set to ","entity_name":"DST","entity_type":"gene"},{"created":"2021-02-12T21:52:53.577293+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DST","entity_type":"gene"},{"created":"2021-02-12T21:52:22.719237+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: 20164846, 22113475, 33471381; Phenotypes: Epidermolysis bullosa simplex, autosomal recessive 2, MIM# 615425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DST","entity_type":"gene"},{"created":"2021-02-12T21:15:26.100454+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLEC as ready","entity_name":"PLEC","entity_type":"gene"},{"created":"2021-02-12T21:15:26.089446+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plec has been classified as Green List (High Evidence).","entity_name":"PLEC","entity_type":"gene"},{"created":"2021-02-12T21:15:22.783330+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLEC were changed from  to Epidermolysis bullosa simplex with nail dystrophy 616487 AR 3 Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670; Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138; Epidermolysis bullosa simplex, Ogna type, MIM# 131950","entity_name":"PLEC","entity_type":"gene"},{"created":"2021-02-12T21:14:39.074920+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLEC was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PLEC","entity_type":"gene"},{"created":"2021-02-12T21:14:08.346810+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa simplex with nail dystrophy 616487 AR 3 Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670, Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138, Epidermolysis bullosa simplex, Ogna type, MIM# 131950; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PLEC","entity_type":"gene"},{"created":"2021-02-12T21:12:49.878755+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DSP as ready","entity_name":"DSP","entity_type":"gene"},{"created":"2021-02-12T21:12:49.869984+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dsp has been classified as Green List (High Evidence).","entity_name":"DSP","entity_type":"gene"},{"created":"2021-02-12T21:12:40.947476+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DSP were changed from  to Epidermolysis bullosa, lethal acantholytic, MIM# 609638","entity_name":"DSP","entity_type":"gene"},{"created":"2021-02-12T21:12:12.838767+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DSP were set to ","entity_name":"DSP","entity_type":"gene"},{"created":"2021-02-12T21:11:49.329278+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DSP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DSP","entity_type":"gene"},{"created":"2021-02-12T21:11:18.052540+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16175511, 20302578, 20302578, 28442525, 20613772, 20302578; Phenotypes: Epidermolysis bullosa, lethal acantholytic, MIM# 609638; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DSP","entity_type":"gene"},{"created":"2021-02-12T21:04:21.131212+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6328","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL7A1 as ready","entity_name":"COL7A1","entity_type":"gene"},{"created":"2021-02-12T21:04:21.120150+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6328","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col7a1 has been classified as Green List (High Evidence).","entity_name":"COL7A1","entity_type":"gene"},{"created":"2021-02-12T21:04:13.474876+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6328","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL7A1 were changed from  to EBD inversa, MIM# 226600; EBD, Bart type MIM# 132000; EBD, localisata variant; Epidermolysis bullosa dystrophica, MIM# 131750; Epidermolysis bullosa dystrophica, 226600; Epidermolysis bullosa pruriginosa 604129; Epidermolysis bullosa, pretibial, MIM# 131850; Transient bullous of the newborn 131705","entity_name":"COL7A1","entity_type":"gene"},{"created":"2021-02-12T21:03:54.323092+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6327","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL7A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL7A1","entity_type":"gene"},{"created":"2021-02-12T21:03:31.709228+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL7A1 as ready","entity_name":"COL7A1","entity_type":"gene"},{"created":"2021-02-12T21:03:31.698183+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col7a1 has been classified as Green List (High Evidence).","entity_name":"COL7A1","entity_type":"gene"},{"created":"2021-02-12T21:03:28.054770+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6326","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: EBD inversa, MIM# 226600, EBD, Bart type MIM# 132000, EBD, localisata variant, Epidermolysis bullosa dystrophica, MIM# 131750, Epidermolysis bullosa dystrophica, 226600, Epidermolysis bullosa pruriginosa 604129, Epidermolysis bullosa, pretibial, MIM# 131850, Transient bullous of the newborn 131705; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL7A1","entity_type":"gene"},{"created":"2021-02-12T21:03:08.029265+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL7A1 were changed from  to EBD inversa, MIM# 226600; EBD, Bart type MIM# 132000; EBD, localisata variant; Epidermolysis bullosa dystrophica, MIM# 131750; Epidermolysis bullosa dystrophica, 226600; Epidermolysis bullosa pruriginosa 604129; Epidermolysis bullosa, pretibial, MIM# 131850; Transient bullous of the newborn 131705","entity_name":"COL7A1","entity_type":"gene"},{"created":"2021-02-12T21:02:36.388505+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL7A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL7A1","entity_type":"gene"},{"created":"2021-02-12T21:02:07.261957+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: EBD inversa, MIM# 226600, EBD, Bart type MIM# 132000, EBD, localisata variant, Epidermolysis bullosa dystrophica, MIM# 131750, Epidermolysis bullosa dystrophica, 226600, Epidermolysis bullosa pruriginosa 604129, Epidermolysis bullosa, pretibial, MIM# 131850, Transient bullous of the newborn 131705; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL7A1","entity_type":"gene"},{"created":"2021-02-12T20:58:26.352820+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGSF1 as ready","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:58:26.343975+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igsf1 has been classified as Green List (High Evidence).","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:58:23.498208+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IGSF1 were changed from Hypothyroidism, central, and testicular enlargement (300888) to Hypothyroidism, central, and testicular enlargement, MIM# 300888","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:58:13.288922+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IGSF1 were set to 23143598; 23966245; 26302767","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:57:56.327489+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27310681, 30086211, 24108313, 26840047, 27762734, 23143598; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:56:53.064989+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6326","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGSF1 as ready","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:56:53.057236+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6326","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igsf1 has been classified as Green List (High Evidence).","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:56:45.517274+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6326","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IGSF1 were changed from  to Hypothyroidism, central, and testicular enlargement, MIM# 300888","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:56:32.125743+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6325","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IGSF1 were set to ","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:56:18.685299+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6324","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IGSF1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:52:38.952703+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6323","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27310681, 30086211, 24108313, 26840047, 27762734, 23143598; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:51:22.316275+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGSF1 as ready","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:51:22.306860+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igsf1 has been classified as Green List (High Evidence).","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:51:20.348722+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IGSF1 were changed from Hypothyroidism, central, and testicular enlargement, 300888; macroorchidism; central hypothyroidism; GH deficiency; hypoprolactinaemia to Hypothyroidism, central, and testicular enlargement, MIM# 300888","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:51:02.712841+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IGSF1 were set to 24108313 (reports that a subset of female carriers show central hypothyroidism).; 26840047; 27762734; 23143598","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:50:38.344352+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23143598, 27310681, 30086211; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:48:58.591145+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HESX1 as ready","entity_name":"HESX1","entity_type":"gene"},{"created":"2021-02-12T20:48:58.580717+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hesx1 has been classified as Green List (High Evidence).","entity_name":"HESX1","entity_type":"gene"},{"created":"2021-02-12T20:48:56.506473+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HESX1 were changed from GH and evolving TSH, ACTH, LH/FSH deficiency; Pituitary hormone deficiency, combined, 5, 182230; agenesis of corpus callous; optic nerve hypoplasia; anterior pituitary, ectopic posterior pituitary; septo-optic dysplasia; Panhypopiuitarism to Pituitary hormone deficiency, combined, 5, MIM# 182230","entity_name":"HESX1","entity_type":"gene"},{"created":"2021-02-12T20:48:29.503679+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 5, MIM# 182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HESX1","entity_type":"gene"},{"created":"2021-02-12T20:44:31.701627+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDB2 as ready","entity_name":"DDB2","entity_type":"gene"},{"created":"2021-02-12T20:44:31.690163+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddb2 has been classified as Green List (High Evidence).","entity_name":"DDB2","entity_type":"gene"},{"created":"2021-02-12T20:44:26.222303+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDB2 were changed from  to Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740","entity_name":"DDB2","entity_type":"gene"},{"created":"2021-02-12T20:44:04.469508+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDB2 were set to ","entity_name":"DDB2","entity_type":"gene"},{"created":"2021-02-12T20:43:35.567905+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DDB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDB2","entity_type":"gene"},{"created":"2021-02-12T20:43:00.344444+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33544716, 32457468, 32239545, 32228487; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740; Mode of inheritance: None","entity_name":"DDB2","entity_type":"gene"},{"created":"2021-02-12T20:40:09.452021+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRIP1 as ready","entity_name":"BRIP1","entity_type":"gene"},{"created":"2021-02-12T20:40:09.434869+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brip1 has been classified as Green List (High Evidence).","entity_name":"BRIP1","entity_type":"gene"},{"created":"2021-02-12T20:39:58.109485+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BRIP1 were changed from  to Fanconi anemia, complementation group J, MIM# 609054","entity_name":"BRIP1","entity_type":"gene"},{"created":"2021-02-12T20:39:02.605128+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BRIP1","entity_type":"gene"},{"created":"2021-02-12T20:38:32.241067+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BRIP1","entity_type":"gene"},{"created":"2021-02-12T20:37:49.770883+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRCA2 as ready","entity_name":"BRCA2","entity_type":"gene"},{"created":"2021-02-12T20:37:49.760526+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brca2 has been classified as Green List (High Evidence).","entity_name":"BRCA2","entity_type":"gene"},{"created":"2021-02-12T20:37:47.248487+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BRCA2 were changed from  to Fanconi anemia, complementation group D1, MIM# 605724","entity_name":"BRCA2","entity_type":"gene"},{"created":"2021-02-12T20:37:20.714880+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BRCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BRCA2","entity_type":"gene"},{"created":"2021-02-12T20:36:49.934276+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D1, MIM# 605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BRCA2","entity_type":"gene"},{"created":"2021-02-12T20:36:09.126133+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BLM as ready","entity_name":"BLM","entity_type":"gene"},{"created":"2021-02-12T20:36:09.108826+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: blm has been classified as Green List (High Evidence).","entity_name":"BLM","entity_type":"gene"},{"created":"2021-02-12T20:36:06.675907+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BLM were changed from  to Bloom syndrome, MIM# 210900","entity_name":"BLM","entity_type":"gene"},{"created":"2021-02-12T20:35:38.289681+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BLM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BLM","entity_type":"gene"},{"created":"2021-02-12T20:35:08.532244+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bloom syndrome, MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BLM","entity_type":"gene"},{"created":"2021-02-12T20:34:35.648567+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATM as ready","entity_name":"ATM","entity_type":"gene"},{"created":"2021-02-12T20:34:35.633654+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atm has been classified as Green List (High Evidence).","entity_name":"ATM","entity_type":"gene"},{"created":"2021-02-12T20:34:32.387658+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATM were changed from  to Ataxia-telangiectasia, MIM# 208900","entity_name":"ATM","entity_type":"gene"},{"created":"2021-02-12T20:34:04.118741+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATM","entity_type":"gene"},{"created":"2021-02-12T20:33:27.138818+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia-telangiectasia, MIM# 208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATM","entity_type":"gene"},{"created":"2021-02-12T15:46:01.637704+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6323","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FSTL5 as ready","entity_name":"FSTL5","entity_type":"gene"}]}