{"count":220966,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1024","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1022","results":[{"created":"2022-01-25T18:09:00.402041+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2774","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRRC6 were changed from PRIMARY CILIARY DISKINESIA to Ciliary dyskinesia, primary, 19, MIM# 614935","entity_name":"LRRC6","entity_type":"gene"},{"created":"2022-01-25T18:08:45.452028+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2773","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRRC6 were set to ","entity_name":"LRRC6","entity_type":"gene"},{"created":"2022-01-25T18:08:27.958210+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2772","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 10 unrelated families reported.; to: More than 10 unrelated families reported. Situs inversus is a feature.","entity_name":"LRRC6","entity_type":"gene"},{"created":"2022-01-25T18:07:36.149028+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2772","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRP5 as ready","entity_name":"LRP5","entity_type":"gene"},{"created":"2022-01-25T18:07:36.136699+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2772","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrp5 has been classified as Green List (High Evidence).","entity_name":"LRP5","entity_type":"gene"},{"created":"2022-01-25T18:07:32.304256+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2772","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRP5 were changed from HIGH BONE MASS TRAIT; ENDOSTEAL HYPEROSTOSIS WORTH TYPE; VITREORETINOPATHY EXUDATIVE TYPE 4; OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1; OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME to Osteoporosis-pseudoglioma syndrome, MIM# 259770; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875","entity_name":"LRP5","entity_type":"gene"},{"created":"2022-01-25T18:07:16.477189+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2771","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LRP5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LRP5","entity_type":"gene"},{"created":"2022-01-25T18:07:02.481066+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2770","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: ID generally normal in all of these conditions.; to: Variants in this gene are associated with multiple disorders. Some have congenital anomalies as a feature.","entity_name":"LRP5","entity_type":"gene"},{"created":"2022-01-25T18:06:40.979146+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2770","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LRP5: Changed rating: GREEN; Changed phenotypes: Osteoporosis-pseudoglioma syndrome, MIM# 259770, Polycystic liver disease 4 with or without kidney cysts, MIM# 617875","entity_name":"LRP5","entity_type":"gene"},{"created":"2022-01-25T18:04:31.462620+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2770","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRP2 as ready","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-01-25T18:04:31.453189+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2770","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":"2022-01-25T18:04:27.396797+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2770","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRP2 were changed from DONNAI-BARROW SYNDROME to Donnai-Barrow syndrome, MIM# 222448","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-01-25T18:03:53.637424+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2769","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMX1B as ready","entity_name":"LMX1B","entity_type":"gene"},{"created":"2022-01-25T18:03:53.622386+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2769","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmx1b has been classified as Green List (High Evidence).","entity_name":"LMX1B","entity_type":"gene"},{"created":"2022-01-25T18:03:49.919245+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2769","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LMX1B were changed from NAIL-PATELLA SYNDROME to Nail-patella syndrome, MIM# 161200, MONDO:0008061","entity_name":"LMX1B","entity_type":"gene"},{"created":"2022-01-25T18:03:36.554790+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2768","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LMX1B were set to ","entity_name":"LMX1B","entity_type":"gene"},{"created":"2022-01-25T18:03:25.380984+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2767","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LMX1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LMX1B","entity_type":"gene"},{"created":"2022-01-25T18:03:12.267305+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2766","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure.  >300 families reported.; to: Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure.  >300 families reported.\r\n\r\nPrenatal presentations with abnormal limb movement reported.","entity_name":"LMX1B","entity_type":"gene"},{"created":"2022-01-25T18:02:29.975701+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2766","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"LMX1B","entity_type":"gene"},{"created":"2022-01-25T18:02:21.606748+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2766","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LMX1B: Changed publications: 29089684","entity_name":"LMX1B","entity_type":"gene"},{"created":"2022-01-25T17:59:17.024260+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2766","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMOD3 as ready","entity_name":"LMOD3","entity_type":"gene"},{"created":"2022-01-25T17:59:17.012830+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2766","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmod3 has been classified as Green List (High Evidence).","entity_name":"LMOD3","entity_type":"gene"},{"created":"2022-01-25T17:59:11.399742+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2766","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LMOD3 were changed from Nemaline myopathy 616165 to Nemaline myopathy 10, MIM# 616165","entity_name":"LMOD3","entity_type":"gene"},{"created":"2022-01-25T17:58:52.758189+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2765","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LMOD3 were set to ","entity_name":"LMOD3","entity_type":"gene"},{"created":"2022-01-25T17:58:14.535562+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2764","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMNA as ready","entity_name":"LMNA","entity_type":"gene"},{"created":"2022-01-25T17:58:14.517052+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2764","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmna has been classified as Green List (High Evidence).","entity_name":"LMNA","entity_type":"gene"},{"created":"2022-01-25T17:58:03.686365+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2764","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LMNA were changed from LETHAL TIGHT SKIN CONTRACTURE SYNDROME; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; HUTCHINSON-GILFORD PROGERIA SYNDROME; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; HEART-HAND SYNDROME SLOVENIAN TYPE; CARDIOMYOPATHY DILATED TYPE 1A; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B to Restrictive dermopathy, lethal, MIM# 275210; Mandibuloacral dysplasia, MIM# 248370","entity_name":"LMNA","entity_type":"gene"},{"created":"2022-01-25T17:57:41.665474+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2763","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"LMNA","entity_type":"gene"},{"created":"2022-01-25T17:57:37.905178+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2763","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LMNA: Added comment: Variants in this gene are associated with multiple phenotypes. The more severe end of the spectrum may present antenatally.; Changed rating: GREEN; Changed phenotypes: Restrictive dermopathy, lethal, MIM# 275210, Mandibuloacral dysplasia, MIM# 248370; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LMNA","entity_type":"gene"},{"created":"2022-01-25T17:55:35.486983+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2763","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMBRD1 as ready","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2022-01-25T17:55:35.477223+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2763","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmbrd1 has been classified as Red List (Low Evidence).","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2022-01-25T17:55:32.336234+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2763","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LMBRD1 were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF to Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2022-01-25T17:55:16.885202+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2762","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LMBRD1 as Red List (low evidence)","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2022-01-25T17:55:16.873765+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2762","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmbrd1 has been classified as Red List (Low Evidence).","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2022-01-25T17:53:35.547159+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2761","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: DD/ID reported in many affected individuals.; to: Onset in infancy.","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2022-01-25T17:53:23.568485+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2761","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LMBRD1: Changed rating: RED","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2022-01-25T17:52:20.628418+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2761","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMBR1 as ready","entity_name":"LMBR1","entity_type":"gene"},{"created":"2022-01-25T17:52:20.617395+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2761","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmbr1 has been classified as Green List (High Evidence).","entity_name":"LMBR1","entity_type":"gene"},{"created":"2022-01-25T17:52:12.662800+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2761","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LMBR1 were changed from Acheiropody 200500; Triphalangeal thumb, type I  174500; Laurin-Sandrow syndrome 135750; Triphalangeal thumb-polysyndactyly syndrome 174500; Hypoplastic or aplastic tibia with polydactyly  188740; Polydactyly, preaxial type II  174500; Syndactyly, type IV 186200 to Laurin-Sandrow syndrome, MIM# 135750; Polydactyly, preaxial type II 174500; Triphalangeal thumb, type I, MIM# 174500; Syndactyly, type IV, MIM# 186200; Acheiropody, MIM# 200500; Triphalangeal thumb-polysyndactyly syndrome, MIM# 174500; Hypoplastic or aplastic tibia with polydactyly, MIM# 188740","entity_name":"LMBR1","entity_type":"gene"},{"created":"2022-01-25T17:51:50.755652+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2760","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Radial aplasia but with ulnar dimelia. Reported microduplications in LMBR1 associated with Laurin-Sandrow syndrome are in the SHH regulatory element (ZRS) that resides in intron 5 of the LMBR1 gene. Duplications are >10kb. \nSources: Expert list; to: Variants are associated with multiple types of limb anomalies.\r\n\r\nNote that the reported microduplications in LMBR1 associated with Laurin-Sandrow syndrome are in the SHH regulatory element (ZRS) that resides in intron 5 of the LMBR1 gene. Duplications are >10kb. \r\nSources: Expert list","entity_name":"LMBR1","entity_type":"gene"},{"created":"2022-01-25T17:50:56.808696+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2760","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LMBR1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LMBR1","entity_type":"gene"},{"created":"2022-01-25T17:50:45.990804+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2760","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LMBR1: Changed phenotypes: Laurin-Sandrow syndrome, MIM# 135750, Polydactyly, preaxial type II 174500, Triphalangeal thumb, type I, MIM# 174500, Syndactyly, type IV, MIM# 186200, Acheiropody, MIM# 200500, Triphalangeal thumb-polysyndactyly syndrome, MIM# 174500, Hypoplastic or aplastic tibia with polydactyly, MIM# 188740","entity_name":"LMBR1","entity_type":"gene"},{"created":"2022-01-25T17:47:08.971794+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2760","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ISPD as ready","entity_name":"ISPD","entity_type":"gene"},{"created":"2022-01-25T17:47:08.960627+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2760","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ispd has been classified as Green List (High Evidence).","entity_name":"ISPD","entity_type":"gene"},{"created":"2022-01-25T17:47:05.380832+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2760","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ISPD were changed from WALKER WARBURG SYNDROME to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643","entity_name":"ISPD","entity_type":"gene"},{"created":"2022-01-25T17:46:53.636147+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2759","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ISPD were set to ","entity_name":"ISPD","entity_type":"gene"},{"created":"2022-01-25T17:45:35.322867+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2758","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERGIC1 as ready","entity_name":"ERGIC1","entity_type":"gene"},{"created":"2022-01-25T17:45:35.311114+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2758","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ergic1 has been classified as Green List (High Evidence).","entity_name":"ERGIC1","entity_type":"gene"},{"created":"2022-01-25T17:45:30.680932+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2758","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERGIC1 as Green List (high evidence)","entity_name":"ERGIC1","entity_type":"gene"},{"created":"2022-01-25T17:45:30.669309+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2758","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ergic1 has been classified as Green List (High Evidence).","entity_name":"ERGIC1","entity_type":"gene"},{"created":"2022-01-25T17:44:19.587963+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2757","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERBB3 as ready","entity_name":"ERBB3","entity_type":"gene"},{"created":"2022-01-25T17:44:19.576421+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2757","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: erbb3 has been classified as Green List (High Evidence).","entity_name":"ERBB3","entity_type":"gene"},{"created":"2022-01-25T17:44:11.695727+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2757","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERBB3 as Green List (high evidence)","entity_name":"ERBB3","entity_type":"gene"},{"created":"2022-01-25T17:44:11.683752+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2757","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: erbb3 has been classified as Green List (High Evidence).","entity_name":"ERBB3","entity_type":"gene"},{"created":"2022-01-24T21:32:40.780359+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2756","user_name":"Krithika Murali","item_type":"entity","text":"gene: ERGIC1 was added\ngene: ERGIC1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ERGIC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERGIC1 were set to 28317099; 34037256; 31230720\nPhenotypes for gene: ERGIC1 were set to Arthrogryposis multiplex congenita 2, neurogenic type; OMIM # 208100\nReview for gene: ERGIC1 was set to GREEN\nAdded comment: Recent Panelapp review by Z. Stark Oct 2021 - no new publications since\r\n\r\n---\r\n\r\nPehlivan et al. 2019 (PMID:31230720) identified the third case of arthrogryposis in a child who harboured a previously unreported homozygous variant (c.782G>A; p.Gly261Asp) in this gene. Parents were heterozygous carriers. Functional studies were not performed.\r\nCreated: 14 Oct 2021, 7:23 a.m. | Last Modified: 14 Oct 2021, 7:23 a.m.\r\nPanel Version: 0.9373\r\n\r\nReinstein et al. (2018) used WES in a large consanguineous Israeli Arab kindred consisting of 16 patients affected with the neurogenic type of arthrogryposis multiplex congenita. They identified a homozygous missense (V98E) mutation in ERGIC1 gene, which segregated with the disorder in the kindred, and was not found in the ExAC database or in 212 ethnically matched controls. Functional studies of the variant and studies of patient cells were not performed. ERGIC1 encodes a cycling membrane protein which has a possible role in transport between endoplasmic reticulum and Golgi.\r\n\r\nMarconi et al (2021) used genome sequencing in a consanguineous family with 2 affected siblings presenting congenital arthrogryposis and some facial dysmorphism. They identified a homozygous 22.6 Kb deletion encompassing the promoter and first exon of ERGIC1. mRNA quantification showed the complete absence of ERGIC1 expression in the two affected siblings and a decrease in heterozygous parents.\r\nSources: Literature \nSources: Literature","entity_name":"ERGIC1","entity_type":"gene"},{"created":"2022-01-24T21:28:31.903995+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2756","user_name":"Krithika Murali","item_type":"entity","text":"gene: ERBB3 was added\ngene: ERBB3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERBB3 were set to 31752936; 17701904; 33720042\nPhenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, MIM# 607598; Hirschsprung disease (HSCR, aganglionic megacolon) MIM#142623\nReview for gene: ERBB3 was set to GREEN\nAdded comment: Biallelic variants associated with multi-system disorder, including gut dysmotility/Hirschsprung disease; with or without contractures.\r\n--\r\n\r\nPMID 33497358: 6 individuals from 4 unrelated families reported with severe gut dysmotility and other features of neurocristinopathy including short-segment HSCR, progressive axonal peripheral neuropathy, dysautonomia, hypopigmentation, deafness. Note variants in this gene have also recently been linked to Hirschsprung's disease.\r\n\r\nPMID 17701904: Lethal congenital contractual syndrome: Two families reported with contractures, positional approach used in gene discovery (2007). \r\n\r\nPMID 33720042 - Seven variants (missense and frameshfit) from four independent families with Hirschsprung disease (HSCR) reported.  All reported individuals variably associated with conditions such as HSCR, chronic intestinal pseudo-obstruction, peripheral neuropathy, and arthrogryposis.  Functional study revealed mutant proteins reduced protein expression or altered phosphorylation of the mutant receptors. \nSources: Literature","entity_name":"ERBB3","entity_type":"gene"},{"created":"2022-01-24T21:06:48.826466+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2756","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INVS as ready","entity_name":"INVS","entity_type":"gene"},{"created":"2022-01-24T21:06:48.811437+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2756","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: invs has been classified as Green List (High Evidence).","entity_name":"INVS","entity_type":"gene"},{"created":"2022-01-24T21:06:43.992018+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2756","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INVS were changed from Nephronophthisis 2 602088 to Nephronophthisis 2, MIM# 602088","entity_name":"INVS","entity_type":"gene"},{"created":"2022-01-24T21:06:32.948768+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2755","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INVS were set to ","entity_name":"INVS","entity_type":"gene"},{"created":"2022-01-24T21:05:54.563397+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2754","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INSR as ready","entity_name":"INSR","entity_type":"gene"},{"created":"2022-01-24T21:05:54.552358+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2754","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: insr has been classified as Green List (High Evidence).","entity_name":"INSR","entity_type":"gene"},{"created":"2022-01-24T21:05:43.127673+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2754","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INSR were changed from DONOHUE SYNDROME  246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans 610549; Hyperinsulinemic hypoglycemia, familial, 5 609968; Rabson-Mendenhall syndrome 262190 to Leprechaunism, MIM# 246200","entity_name":"INSR","entity_type":"gene"},{"created":"2022-01-24T21:05:18.843051+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2753","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: ID is not part of the phenotype of Leprechaunism, and some of the individuals with Rabson-Mendenhall are described as 'mentally precocious'.; to: IUGR","entity_name":"INSR","entity_type":"gene"},{"created":"2022-01-24T21:05:01.364397+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2753","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: INSR: Changed phenotypes: Leprechaunism, MIM# 246200","entity_name":"INSR","entity_type":"gene"},{"created":"2022-01-24T21:04:52.001524+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2753","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: INSR: Changed rating: GREEN","entity_name":"INSR","entity_type":"gene"},{"created":"2022-01-24T21:03:45.754115+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2753","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INPP5E as ready","entity_name":"INPP5E","entity_type":"gene"},{"created":"2022-01-24T21:03:45.744292+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2753","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: inpp5e has been classified as Green List (High Evidence).","entity_name":"INPP5E","entity_type":"gene"},{"created":"2022-01-24T21:03:42.153648+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2753","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INPP5E were changed from MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS; JOUBERT SYNDROME TYPE 1 to Joubert syndrome 1, MIM# 213300; MONDO:0008944","entity_name":"INPP5E","entity_type":"gene"},{"created":"2022-01-24T21:03:23.560268+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2752","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INPP5E were set to ","entity_name":"INPP5E","entity_type":"gene"},{"created":"2022-01-24T21:02:48.573112+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2751","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IKBKG as ready","entity_name":"IKBKG","entity_type":"gene"},{"created":"2022-01-24T21:02:48.560790+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2751","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikbkg has been classified as Green List (High Evidence).","entity_name":"IKBKG","entity_type":"gene"},{"created":"2022-01-24T21:02:43.750596+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2751","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IKBKG were changed from ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA; SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1; ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED; INCONTINENTIA PIGMENTI; IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA to ncontinentia pigmenti, MIM# 308300","entity_name":"IKBKG","entity_type":"gene"},{"created":"2022-01-24T21:02:22.490733+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2750","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IKBKG were set to ","entity_name":"IKBKG","entity_type":"gene"},{"created":"2022-01-24T20:42:38.860028+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10786","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIF1B as Red List (low evidence)","entity_name":"KIF1B","entity_type":"gene"},{"created":"2022-01-24T20:42:38.848144+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10786","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif1b has been classified as Red List (Low Evidence).","entity_name":"KIF1B","entity_type":"gene"},{"created":"2022-01-24T20:42:19.923173+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10785","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIF1B: Added comment: Limited for both phenotypes.; Changed rating: RED","entity_name":"KIF1B","entity_type":"gene"},{"created":"2022-01-24T20:38:43.178994+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10785","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAMK2G as ready","entity_name":"CAMK2G","entity_type":"gene"},{"created":"2022-01-24T20:38:43.169415+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10785","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: camk2g has been classified as Amber List (Moderate Evidence).","entity_name":"CAMK2G","entity_type":"gene"},{"created":"2022-01-24T20:38:18.901410+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10785","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CAMK2G as Amber List (moderate evidence)","entity_name":"CAMK2G","entity_type":"gene"},{"created":"2022-01-24T20:38:18.891809+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10785","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: camk2g has been classified as Amber List (Moderate Evidence).","entity_name":"CAMK2G","entity_type":"gene"},{"created":"2022-01-24T20:37:58.956651+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10784","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAMK2G was added\ngene: CAMK2G was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: CAMK2G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CAMK2G were set to 30184290; 23033978\nPhenotypes for gene: CAMK2G were set to Mental retardation, autosomal dominant 59, MIM# 618522\nReview for gene: CAMK2G was set to AMBER\nAdded comment: Two unrelated individuals reported with de novo (p.Arg292Pro) variant. Functional data suggests GoF. \nSources: Expert Review","entity_name":"CAMK2G","entity_type":"gene"},{"created":"2022-01-24T20:37:35.723092+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4468","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CAMK2G were set to 30184290","entity_name":"CAMK2G","entity_type":"gene"},{"created":"2022-01-24T20:37:02.172916+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4467","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAMK2G were changed from Intellectual disability to Mental retardation, autosomal dominant 59, MIM#\t618522","entity_name":"CAMK2G","entity_type":"gene"},{"created":"2022-01-24T20:35:27.190214+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4466","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAMK2G as ready","entity_name":"CAMK2G","entity_type":"gene"},{"created":"2022-01-24T20:35:27.180574+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4466","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: camk2g has been classified as Amber List (Moderate Evidence).","entity_name":"CAMK2G","entity_type":"gene"},{"created":"2022-01-24T20:35:14.492533+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4466","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CAMK2G as Amber List (moderate evidence)","entity_name":"CAMK2G","entity_type":"gene"},{"created":"2022-01-24T20:35:14.483008+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4466","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: camk2g has been classified as Amber List (Moderate Evidence).","entity_name":"CAMK2G","entity_type":"gene"},{"created":"2022-01-24T20:34:38.403437+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4465","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CAMK2G: Changed publications: 30184290, 29100089","entity_name":"CAMK2G","entity_type":"gene"},{"created":"2022-01-24T20:34:31.067949+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4465","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAMK2G was added\ngene: CAMK2G was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: CAMK2G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CAMK2G were set to 30184290\nPhenotypes for gene: CAMK2G were set to Intellectual disability\nMode of pathogenicity for gene: CAMK2G was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: CAMK2G was set to AMBER\nAdded comment: Two unrelated individuals reported with de novo (p.Arg292Pro) variant. Functional data suggests GoF. \nSources: Expert Review","entity_name":"CAMK2G","entity_type":"gene"},{"created":"2022-01-24T20:27:40.576537+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1430","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSNK2B as ready","entity_name":"CSNK2B","entity_type":"gene"},{"created":"2022-01-24T20:27:40.563944+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1430","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csnk2b has been classified as Green List (High Evidence).","entity_name":"CSNK2B","entity_type":"gene"},{"created":"2022-01-24T20:27:34.935351+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1430","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSNK2B were changed from  to Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732","entity_name":"CSNK2B","entity_type":"gene"},{"created":"2022-01-24T20:27:10.159514+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1429","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CSNK2B were set to ","entity_name":"CSNK2B","entity_type":"gene"},{"created":"2022-01-24T20:26:34.464702+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1428","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CSNK2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CSNK2B","entity_type":"gene"},{"created":"2022-01-24T20:25:37.797980+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1427","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CSNK2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28585349, 28762608; Phenotypes: Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CSNK2B","entity_type":"gene"},{"created":"2022-01-24T20:24:44.216601+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4464","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSNK2B as ready","entity_name":"CSNK2B","entity_type":"gene"},{"created":"2022-01-24T20:24:44.205668+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4464","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csnk2b has been classified as Green List (High Evidence).","entity_name":"CSNK2B","entity_type":"gene"},{"created":"2022-01-24T20:24:35.835937+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4464","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSNK2B were changed from  to Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732","entity_name":"CSNK2B","entity_type":"gene"},{"created":"2022-01-24T20:24:01.819785+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4463","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CSNK2B were set to ","entity_name":"CSNK2B","entity_type":"gene"}]}