{"count":220459,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1289","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1287","results":[{"created":"2021-06-21T18:16:40.026020+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANKRD11 as ready","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2021-06-21T18:16:40.015263+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ankrd11 has been classified as Red List (Low Evidence).","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2021-06-21T18:16:32.824823+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ANKRD11: Changed rating: RED; Changed phenotypes: KBG syndrome, MIM# 148050","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2021-06-21T18:16:14.784014+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANKRD11 was added\ngene: ANKRD11 was added to Congenital diaphragmatic hernia. Sources: Literature\nMode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANKRD11 were set to 33461977\nPhenotypes for gene: ANKRD11 were set to KBG syndrome, MIM#\t148050\nReview for gene: ANKRD11 was set to GREEN\nAdded comment: Single individual reported. \nSources: Literature","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2021-06-21T18:14:05.387015+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG12 as ready","entity_name":"ALG12","entity_type":"gene"},{"created":"2021-06-21T18:14:05.377170+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg12 has been classified as Red List (Low Evidence).","entity_name":"ALG12","entity_type":"gene"},{"created":"2021-06-21T18:13:57.687475+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG12 was added\ngene: ALG12 was added to Congenital diaphragmatic hernia. Sources: Literature\nMode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG12 were set to 33461977\nPhenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig, MIM#\t607143\nReview for gene: ALG12 was set to RED\nAdded comment: Single individual reported with CDH. \nSources: Literature","entity_name":"ALG12","entity_type":"gene"},{"created":"2021-06-21T18:10:45.774575+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABL1 as ready","entity_name":"ABL1","entity_type":"gene"},{"created":"2021-06-21T18:10:45.763869+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abl1 has been classified as Green List (High Evidence).","entity_name":"ABL1","entity_type":"gene"},{"created":"2021-06-21T18:10:28.990044+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABL1 as Green List (high evidence)","entity_name":"ABL1","entity_type":"gene"},{"created":"2021-06-21T18:10:28.980132+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abl1 has been classified as Green List (High Evidence).","entity_name":"ABL1","entity_type":"gene"},{"created":"2021-06-21T18:10:05.541742+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABL1 was added\ngene: ABL1 was added to Congenital diaphragmatic hernia. Sources: Literature\nMode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ABL1 were set to 33461977; 28288113\nPhenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, MIM#\t617602\nReview for gene: ABL1 was set to GREEN\nAdded comment: Congenital diaphragmatic hernia reported in at least 3 individuals. \nSources: Literature","entity_name":"ABL1","entity_type":"gene"},{"created":"2021-06-21T17:54:49.061583+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8087","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLIT3 as ready","entity_name":"SLIT3","entity_type":"gene"},{"created":"2021-06-21T17:54:49.051173+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8087","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slit3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLIT3","entity_type":"gene"},{"created":"2021-06-21T17:54:39.119039+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8087","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLIT3 as Amber List (moderate evidence)","entity_name":"SLIT3","entity_type":"gene"},{"created":"2021-06-21T17:54:39.106751+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8087","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slit3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLIT3","entity_type":"gene"},{"created":"2021-06-21T17:54:21.824601+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8086","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLIT3 was added\ngene: SLIT3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLIT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLIT3 were set to 33933663\nPhenotypes for gene: SLIT3 were set to Congenital diaphragmatic hernia\nReview for gene: SLIT3 was set to AMBER\nAdded comment: Two affected individuals, single family, supportive mouse model. \nSources: Literature","entity_name":"SLIT3","entity_type":"gene"},{"created":"2021-06-21T17:54:03.569495+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLIT3 as ready","entity_name":"SLIT3","entity_type":"gene"},{"created":"2021-06-21T17:54:03.559012+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slit3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLIT3","entity_type":"gene"},{"created":"2021-06-21T17:53:28.979622+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLIT3 as Amber List (moderate evidence)","entity_name":"SLIT3","entity_type":"gene"},{"created":"2021-06-21T17:53:28.969190+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slit3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLIT3","entity_type":"gene"},{"created":"2021-06-21T17:53:03.808916+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLIT3 was added\ngene: SLIT3 was added to Congenital diaphragmatic hernia. Sources: Literature\nMode of inheritance for gene: SLIT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLIT3 were set to 33933663\nPhenotypes for gene: SLIT3 were set to Congenital diaphragmatic hernia\nReview for gene: SLIT3 was set to AMBER\nAdded comment: Two affected individuals, single family, supportive mouse model. \nSources: Literature","entity_name":"SLIT3","entity_type":"gene"},{"created":"2021-06-21T17:50:02.465555+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WT1 as ready","entity_name":"WT1","entity_type":"gene"},{"created":"2021-06-21T17:50:02.453305+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wt1 has been classified as Green List (High Evidence).","entity_name":"WT1","entity_type":"gene"},{"created":"2021-06-21T17:49:59.866618+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WT1 were changed from  to Denys-Drash syndrome, MIM# 194080","entity_name":"WT1","entity_type":"gene"},{"created":"2021-06-21T17:49:37.336893+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"WT1","entity_type":"gene"},{"created":"2021-06-21T17:49:12.529599+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Denys-Drash syndrome, MIM# 194080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"WT1","entity_type":"gene"},{"created":"2021-06-21T17:46:10.898460+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMC3 as ready","entity_name":"SMC3","entity_type":"gene"},{"created":"2021-06-21T17:46:10.888602+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smc3 has been classified as Amber List (Moderate Evidence).","entity_name":"SMC3","entity_type":"gene"},{"created":"2021-06-21T17:46:08.273406+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMC3 were changed from  to Cornelia de Lange syndrome 3, MIM# 610759","entity_name":"SMC3","entity_type":"gene"},{"created":"2021-06-21T17:45:46.082452+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMC3","entity_type":"gene"},{"created":"2021-06-21T17:45:01.085478+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMC3 as Amber List (moderate evidence)","entity_name":"SMC3","entity_type":"gene"},{"created":"2021-06-21T17:45:01.074553+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smc3 has been classified as Amber List (Moderate Evidence).","entity_name":"SMC3","entity_type":"gene"},{"created":"2021-06-21T17:44:30.524283+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SMC3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 3, MIM# 610759; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMC3","entity_type":"gene"},{"created":"2021-06-21T17:43:11.864552+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMC1A as ready","entity_name":"SMC1A","entity_type":"gene"},{"created":"2021-06-21T17:43:11.855325+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smc1a has been classified as Amber List (Moderate Evidence).","entity_name":"SMC1A","entity_type":"gene"},{"created":"2021-06-21T17:43:07.987415+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMC1A were changed from  to Cornelia de Lange syndrome 2, MIM# 300590","entity_name":"SMC1A","entity_type":"gene"},{"created":"2021-06-21T17:42:46.215562+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMC1A 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":"SMC1A","entity_type":"gene"},{"created":"2021-06-21T17:42:25.136483+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMC1A as Amber List (moderate evidence)","entity_name":"SMC1A","entity_type":"gene"},{"created":"2021-06-21T17:42:25.126832+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smc1a has been classified as Amber List (Moderate Evidence).","entity_name":"SMC1A","entity_type":"gene"},{"created":"2021-06-21T17:42:01.811012+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SMC1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 2, MIM# 300590; 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":"SMC1A","entity_type":"gene"},{"created":"2021-06-21T17:40:52.856877+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAD21 as ready","entity_name":"RAD21","entity_type":"gene"},{"created":"2021-06-21T17:40:52.846027+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rad21 has been classified as Green List (High Evidence).","entity_name":"RAD21","entity_type":"gene"},{"created":"2021-06-21T17:40:48.962853+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAD21 were changed from  to Cornelia de Lange syndrome 4, MIM# 614701","entity_name":"RAD21","entity_type":"gene"},{"created":"2021-06-21T17:40:25.062772+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAD21 were set to ","entity_name":"RAD21","entity_type":"gene"},{"created":"2021-06-21T17:40:03.026197+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAD21 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAD21","entity_type":"gene"},{"created":"2021-06-21T17:39:33.989981+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: None; Publications: 30125677; Phenotypes: Cornelia de Lange syndrome 4, MIM# 614701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAD21","entity_type":"gene"},{"created":"2021-06-21T17:36:34.029187+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OFD1 as ready","entity_name":"OFD1","entity_type":"gene"},{"created":"2021-06-21T17:36:34.016191+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ofd1 has been classified as Amber List (Moderate Evidence).","entity_name":"OFD1","entity_type":"gene"},{"created":"2021-06-21T17:36:31.221427+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OFD1 were changed from  to Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209","entity_name":"OFD1","entity_type":"gene"},{"created":"2021-06-21T17:34:22.755402+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OFD1 were set to ","entity_name":"OFD1","entity_type":"gene"},{"created":"2021-06-21T17:33:54.650647+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OFD1","entity_type":"gene"},{"created":"2021-06-21T17:33:32.859458+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OFD1 as Amber List (moderate evidence)","entity_name":"OFD1","entity_type":"gene"},{"created":"2021-06-21T17:33:32.848041+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ofd1 has been classified as Amber List (Moderate Evidence).","entity_name":"OFD1","entity_type":"gene"},{"created":"2021-06-21T17:33:02.762076+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 16783569, 27589329; Phenotypes: Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209; Mode of inheritance: None","entity_name":"OFD1","entity_type":"gene"},{"created":"2021-06-21T13:47:59.181803+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGF2 as ready","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T13:47:59.171970+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igf2 has been classified as Green List (High Evidence).","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T13:47:55.685233+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IGF2 as Green List (high evidence)","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T13:47:55.675004+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igf2 has been classified as Green List (High Evidence).","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T13:47:42.111278+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGF2 as ready","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T13:47:42.101188+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igf2 has been classified as Green List (High Evidence).","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T13:46:31.950070+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IGF2 as Green List (high evidence)","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T13:46:31.940848+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igf2 has been classified as Green List (High Evidence).","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T13:45:53.138458+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGF2 as ready","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T13:45:53.109352+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igf2 has been classified as Green List (High Evidence).","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T13:43:50.779538+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IGF2 as Green List (high evidence)","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T13:43:50.769765+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igf2 has been classified as Green List (High Evidence).","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T13:43:22.064466+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGF2 as ready","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T13:43:22.053614+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igf2 has been classified as Green List (High Evidence).","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T13:43:18.975128+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IGF2 as Green List (high evidence)","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T13:43:18.966218+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igf2 has been classified as Green List (High Evidence).","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T13:41:55.234342+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP6V1A as ready","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2021-06-21T13:41:55.229954+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: CK markedly raised in some.","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2021-06-21T13:41:55.197369+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v1a has been classified as Green List (High Evidence).","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2021-06-21T13:41:52.431534+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP6V1A were changed from Cutis laxa, autosomal recessive, type IID MIM#617403; Developmental and epileptic encephalopathy 93 MIM#618012 to Cutis laxa, autosomal recessive, type IID MIM#617403","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2021-06-21T13:41:28.977365+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP6V1A as Green List (high evidence)","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2021-06-21T13:41:28.966036+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v1a has been classified as Green List (High Evidence).","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2021-06-21T12:26:06.119974+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.129","user_name":"Elena Savva","item_type":"entity","text":"gene: IGF2 was added\ngene: IGF2 was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: IGF2 were set to PMID: 31544945\nPhenotypes for gene: IGF2 were set to Silver-Russell syndrome 3 MIM#616489\nReview for gene: IGF2 was set to GREEN\nAdded comment: PMID: 31544945 - cleft palate reported in 6/14 patients with SRS \nSources: Literature","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T12:25:15.275808+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.31","user_name":"Elena Savva","item_type":"entity","text":"gene: IGF2 was added\ngene: IGF2 was added to Pierre Robin Sequence. Sources: Literature\nMode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: IGF2 were set to PMID: 31544945\nPhenotypes for gene: IGF2 were set to Silver-Russell syndrome 3 MIM#616489\nReview for gene: IGF2 was set to GREEN\nAdded comment: PMID: 31544945 - micrognathia (100%, 8 families) and cleft palate (43%, 6/14 families) both reported in patients with SRS \nSources: Literature","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T12:23:50.124371+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.116","user_name":"Elena Savva","item_type":"entity","text":"gene: IGF2 was added\ngene: IGF2 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: IGF2 were set to PMID: 31544945\nPhenotypes for gene: IGF2 were set to Silver-Russell syndrome 3 MIM#616489\nReview for gene: IGF2 was set to GREEN\nAdded comment: PMID: 31544945 - cardiovascular anomalies reported in 50% of patients \nSources: Literature","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T12:22:21.645009+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.208","user_name":"Elena Savva","item_type":"entity","text":"gene: IGF2 was added\ngene: IGF2 was added to Differences of Sex Development. Sources: Literature\nMode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: IGF2 were set to PMID: 31544945\nPhenotypes for gene: IGF2 were set to Silver-Russell syndrome 3 MIM#616489\nReview for gene: IGF2 was set to GREEN\nAdded comment: PMID: 31544945 - 60% of patients reported some form of DSD including hypospadias, cryptochidism, abnormal scrotum etc. \nSources: Literature","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-06-21T11:45:31.181682+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.89","user_name":"Elena Savva","item_type":"entity","text":"gene: ATP6V1A was added\ngene: ATP6V1A was added to Muscular dystrophy_Paediatric. Sources: Literature\nMode of inheritance for gene: ATP6V1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP6V1A were set to PMID: 28065471; 33320377\nPhenotypes for gene: ATP6V1A were set to Cutis laxa, autosomal recessive, type IID MIM#617403; Developmental and epileptic encephalopathy 93 MIM#618012\nReview for gene: ATP6V1A was set to GREEN\nAdded comment: 3 families were reported with elevated CK levels in patients with cutis laxa AR phenotype \nSources: Literature","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2021-06-20T20:17:19.582354+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NSD1 as ready","entity_name":"NSD1","entity_type":"gene"},{"created":"2021-06-20T20:17:19.570827+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsd1 has been classified as Red List (Low Evidence).","entity_name":"NSD1","entity_type":"gene"},{"created":"2021-06-20T20:17:08.501820+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NSD1 were changed from  to Sotos syndrome 1, MIM# 117550","entity_name":"NSD1","entity_type":"gene"},{"created":"2021-06-20T20:16:45.496083+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NSD1 were set to ","entity_name":"NSD1","entity_type":"gene"},{"created":"2021-06-20T20:16:03.924606+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NSD1","entity_type":"gene"},{"created":"2021-06-20T20:15:36.727486+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NSD1 as Red List (low evidence)","entity_name":"NSD1","entity_type":"gene"},{"created":"2021-06-20T20:15:36.717116+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsd1 has been classified as Red List (Low Evidence).","entity_name":"NSD1","entity_type":"gene"},{"created":"2021-06-20T20:15:13.129595+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NSD1: Rating: RED; Mode of pathogenicity: None; Publications: 29966037; Phenotypes: Sotos syndrome 1, MIM# 117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NSD1","entity_type":"gene"},{"created":"2021-06-20T20:12:59.131577+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NIPBL as ready","entity_name":"NIPBL","entity_type":"gene"},{"created":"2021-06-20T20:12:59.119645+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nipbl has been classified as Green List (High Evidence).","entity_name":"NIPBL","entity_type":"gene"},{"created":"2021-06-20T20:12:56.281563+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NIPBL were changed from  to Cornelia de Lange syndrome 1, MIM# 122470","entity_name":"NIPBL","entity_type":"gene"},{"created":"2021-06-20T20:12:23.759933+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NIPBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NIPBL","entity_type":"gene"},{"created":"2021-06-20T20:11:52.668234+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NIPBL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 1, MIM# 122470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NIPBL","entity_type":"gene"},{"created":"2021-06-20T19:53:57.023389+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRP2 as ready","entity_name":"LRP2","entity_type":"gene"},{"created":"2021-06-20T19:53:57.000790+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrp2 has been classified as Green List (High Evidence).","entity_name":"LRP2","entity_type":"gene"},{"created":"2021-06-20T19:53:53.664660+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRP2 were changed from  to Donnai-Barrow syndrome, MIM# 222448","entity_name":"LRP2","entity_type":"gene"},{"created":"2021-06-20T19:53:23.051569+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LRP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRP2","entity_type":"gene"},{"created":"2021-06-20T19:52:54.784369+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Donnai-Barrow syndrome, MIM# 222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRP2","entity_type":"gene"}]}