{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1042","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1040","results":[{"created":"2022-01-18T18:29:31.966888+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2383","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMTC3 as Green List (high evidence)","entity_name":"TMTC3","entity_type":"gene"},{"created":"2022-01-18T18:29:31.956524+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2383","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmtc3 has been classified as Green List (High Evidence).","entity_name":"TMTC3","entity_type":"gene"},{"created":"2022-01-18T18:26:08.381098+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2382","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM98 as ready","entity_name":"TMEM98","entity_type":"gene"},{"created":"2022-01-18T18:26:08.370779+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2382","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem98 has been classified as Green List (High Evidence).","entity_name":"TMEM98","entity_type":"gene"},{"created":"2022-01-18T18:24:32.514253+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2382","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM98 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TMEM98","entity_type":"gene"},{"created":"2022-01-18T18:05:11.837281+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2381","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM98 as Green List (high evidence)","entity_name":"TMEM98","entity_type":"gene"},{"created":"2022-01-18T18:05:11.825655+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2381","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem98 has been classified as Green List (High Evidence).","entity_name":"TMEM98","entity_type":"gene"},{"created":"2022-01-18T18:03:58.566932+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2380","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM38B as ready","entity_name":"TMEM38B","entity_type":"gene"},{"created":"2022-01-18T18:03:58.557875+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2380","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem38b has been classified as Green List (High Evidence).","entity_name":"TMEM38B","entity_type":"gene"},{"created":"2022-01-18T18:03:54.358570+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2380","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM38B were set to 23054245; 23316006","entity_name":"TMEM38B","entity_type":"gene"},{"created":"2022-01-18T16:06:55.582174+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2379","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM38B as Green List (high evidence)","entity_name":"TMEM38B","entity_type":"gene"},{"created":"2022-01-18T16:06:55.573237+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2379","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem38b has been classified as Green List (High Evidence).","entity_name":"TMEM38B","entity_type":"gene"},{"created":"2022-01-18T16:06:20.024607+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2378","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM216 as ready","entity_name":"TMEM216","entity_type":"gene"},{"created":"2022-01-18T16:06:19.993108+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2378","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem216 has been classified as Green List (High Evidence).","entity_name":"TMEM216","entity_type":"gene"},{"created":"2022-01-18T16:06:16.542253+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2378","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM216 were changed from Meckel syndrome 2, OMIM:603194; Meckel syndrome, type 2, MONDO:0011296 to Joubert syndrome 2, MIM# 608091; Meckel syndrome 2, OMIM:603194; Meckel syndrome, type 2, MONDO:0011296","entity_name":"TMEM216","entity_type":"gene"},{"created":"2022-01-18T16:05:48.389530+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2377","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM216 as Green List (high evidence)","entity_name":"TMEM216","entity_type":"gene"},{"created":"2022-01-18T16:05:48.379203+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2377","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem216 has been classified as Green List (High Evidence).","entity_name":"TMEM216","entity_type":"gene"},{"created":"2022-01-18T16:04:59.035794+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2376","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM107 as ready","entity_name":"TMEM107","entity_type":"gene"},{"created":"2022-01-18T16:04:59.023686+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2376","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem107 has been classified as Green List (High Evidence).","entity_name":"TMEM107","entity_type":"gene"},{"created":"2022-01-18T16:04:34.508558+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2376","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM107 as Green List (high evidence)","entity_name":"TMEM107","entity_type":"gene"},{"created":"2022-01-18T16:04:34.496243+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2376","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem107 has been classified as Green List (High Evidence).","entity_name":"TMEM107","entity_type":"gene"},{"created":"2022-01-18T16:04:22.285882+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2375","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"TMEM107","entity_type":"gene"},{"created":"2022-01-18T16:04:16.792011+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2375","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TMEM107: Added comment: Overall enough evidence variants cause a ciliopathy phenotype.; Changed rating: GREEN; Changed phenotypes: Meckel syndrome 13 (MIM#617562), Orofaciodigital syndrome XVI (MIM#617563), Joubert syndrome 29 617562; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM107","entity_type":"gene"},{"created":"2022-01-18T15:57:42.148151+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2375","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: FOXL2: Rating: RED; Mode of pathogenicity: None; Publications: 31077882, 18642388, 17089161; Phenotypes: Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"FOXL2","entity_type":"gene"},{"created":"2022-01-18T15:40:08.322262+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TKT as ready","entity_name":"TKT","entity_type":"gene"},{"created":"2022-01-18T15:40:08.311472+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tkt has been classified as Amber List (Moderate Evidence).","entity_name":"TKT","entity_type":"gene"},{"created":"2022-01-18T15:40:04.266368+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TKT as Amber List (moderate evidence)","entity_name":"TKT","entity_type":"gene"},{"created":"2022-01-18T15:40:04.255853+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tkt has been classified as Amber List (Moderate Evidence).","entity_name":"TKT","entity_type":"gene"},{"created":"2022-01-18T15:39:39.066975+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TKT was added\ngene: TKT was added to Congenital Heart Defect. Sources: Expert Review\nMode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TKT were set to 27259054\nPhenotypes for gene: TKT were set to Short stature, developmental delay, and congenital heart defects; OMIM #617044\nReview for gene: TKT was set to AMBER\nAdded comment: Boyle et al. (2016) reported 3 families with 5 affected individuals with proportionate short stature, developmental delay, and congenital heart defects. Enzymatic testing confirmed significantly reduced transketolase activity. Elevated urinary excretion of erythritol, arabitol, ribitol, and pent(ul)ose-5-phosphates was detected, as well as elevated amounts of erythritol, arabitol, and ribitol in the plasma of affected individuals. Transketolase deficiency reduces NADPH synthesis and nucleic acid synthesis and cell division.\r\n\r\nTwo of the families had the same variant ?founder. \nSources: Expert Review","entity_name":"TKT","entity_type":"gene"},{"created":"2022-01-18T15:38:05.391386+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TKT as ready","entity_name":"TKT","entity_type":"gene"},{"created":"2022-01-18T15:38:05.381562+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tkt has been classified as Amber List (Moderate Evidence).","entity_name":"TKT","entity_type":"gene"},{"created":"2022-01-18T15:37:58.383946+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TKT as Amber List (moderate evidence)","entity_name":"TKT","entity_type":"gene"},{"created":"2022-01-18T15:37:58.371911+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tkt has been classified as Amber List (Moderate Evidence).","entity_name":"TKT","entity_type":"gene"},{"created":"2022-01-18T15:37:49.503677+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TKT was added\ngene: TKT was added to Growth failure. Sources: Expert list\nMode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TKT were set to 27259054\nPhenotypes for gene: TKT were set to Short stature, developmental delay, and congenital heart defects; OMIM #617044\nReview for gene: TKT was set to AMBER\nAdded comment: Boyle et al. (2016) reported 3 families with 5 affected individuals with proportionate short stature, developmental delay, and congenital heart defects. Enzymatic testing confirmed significantly reduced transketolase activity. Elevated urinary excretion of erythritol, arabitol, ribitol, and pent(ul)ose-5-phosphates was detected, as well as elevated amounts of erythritol, arabitol, and ribitol in the plasma of affected individuals. Transketolase deficiency reduces NADPH synthesis and nucleic acid synthesis and cell division.\r\n\r\nTwo of the families had the same variant ?founder. \nSources: Expert list","entity_name":"TKT","entity_type":"gene"},{"created":"2022-01-18T15:36:28.418632+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2375","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TKT as ready","entity_name":"TKT","entity_type":"gene"},{"created":"2022-01-18T15:36:28.406352+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2375","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tkt has been classified as Amber List (Moderate Evidence).","entity_name":"TKT","entity_type":"gene"},{"created":"2022-01-18T15:36:13.696714+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2375","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TKT were changed from Short Stature, Developmental Delay, and Congenital Heart Defects to Short stature, developmental delay, and congenital heart defects; OMIM #617044","entity_name":"TKT","entity_type":"gene"},{"created":"2022-01-18T15:35:59.227536+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2374","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TKT were set to ","entity_name":"TKT","entity_type":"gene"},{"created":"2022-01-18T15:34:57.291503+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2373","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: THOC2 as ready","entity_name":"THOC2","entity_type":"gene"},{"created":"2022-01-18T15:34:57.281561+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2373","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thoc2 has been classified as Green List (High Evidence).","entity_name":"THOC2","entity_type":"gene"},{"created":"2022-01-18T15:34:52.848506+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2373","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: THOC2 were changed from MENTAL RETARDATION, X-LINKED 12 to Mental retardation, X-linked 12/35 MIM#300957","entity_name":"THOC2","entity_type":"gene"},{"created":"2022-01-18T15:34:38.581194+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2372","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: THOC2 were set to ","entity_name":"THOC2","entity_type":"gene"},{"created":"2022-01-18T15:34:17.609645+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2371","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: THOC2 as Green List (high evidence)","entity_name":"THOC2","entity_type":"gene"},{"created":"2022-01-18T15:34:17.598032+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2371","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thoc2 has been classified as Green List (High Evidence).","entity_name":"THOC2","entity_type":"gene"},{"created":"2022-01-18T15:34:04.931441+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2370","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29851191; Phenotypes: Mental retardation, X-linked 12/35 MIM#300957; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"THOC2","entity_type":"gene"},{"created":"2022-01-18T15:28:19.897158+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2370","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TENM3 as ready","entity_name":"TENM3","entity_type":"gene"},{"created":"2022-01-18T15:28:19.883930+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2370","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tenm3 has been classified as Green List (High Evidence).","entity_name":"TENM3","entity_type":"gene"},{"created":"2022-01-18T15:28:16.202056+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2370","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TENM3 were changed from Microphthalmia, isolated, with coloboma 9, MONDO:0014059; Microphthalmia, syndromic 15, OMIM:615145; ?Microphthalmia, isolated, with coloboma 9, OMIM:615145 to Microphthalmia, isolated, with coloboma 9, MONDO:0014059; Microphthalmia, syndromic 15, MIM#615145; coloboma","entity_name":"TENM3","entity_type":"gene"},{"created":"2022-01-18T15:27:48.236331+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2369","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TENM3 as Green List (high evidence)","entity_name":"TENM3","entity_type":"gene"},{"created":"2022-01-18T15:27:48.225329+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2369","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tenm3 has been classified as Green List (High Evidence).","entity_name":"TENM3","entity_type":"gene"},{"created":"2022-01-18T15:24:25.031187+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2368","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TELO2 as ready","entity_name":"TELO2","entity_type":"gene"},{"created":"2022-01-18T15:24:25.018067+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2368","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: telo2 has been classified as Green List (High Evidence).","entity_name":"TELO2","entity_type":"gene"},{"created":"2022-01-18T15:24:16.348466+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2368","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TELO2 were set to ","entity_name":"TELO2","entity_type":"gene"},{"created":"2022-01-18T15:24:04.045842+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2367","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TELO2 as Green List (high evidence)","entity_name":"TELO2","entity_type":"gene"},{"created":"2022-01-18T15:24:04.025476+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2367","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: telo2 has been classified as Green List (High Evidence).","entity_name":"TELO2","entity_type":"gene"},{"created":"2022-01-18T15:23:52.300276+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2366","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Five unrelated families reported. \nSources: Expert list; to: Five unrelated families reported.\r\n\r\nMicrocephaly, congenital heart disease, renal malformations reported.\r\nSources: Expert list","entity_name":"TELO2","entity_type":"gene"},{"created":"2022-01-18T14:46:35.213882+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2366","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: FN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100092, 33605604; Phenotypes: Spondylometaphyseal dysplasia, corner fracture type (MIM#184255), Glomerulopathy with fibronectin deposits 2 (MIM#601894); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"FN1","entity_type":"gene"},{"created":"2022-01-18T13:31:45.322781+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2366","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: FMN2: Rating: RED; Mode of pathogenicity: None; Publications: 25480035, 32162566, 24161494; Phenotypes: Intellectual developmental disorder, autosomal recessive 47 MIM#616193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FMN2","entity_type":"gene"},{"created":"2022-01-18T13:29:15.781805+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10643","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: HAND1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31286141, 29016838, 29317578, 29179274, 28112363, 27942761, 26581070; Phenotypes: Congenital heart defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HAND1","entity_type":"gene"},{"created":"2022-01-18T13:25:35.639395+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2366","user_name":"Krithika Murali","item_type":"entity","text":"edited their review of gene: HAND1: Added comment: No OMIM gene disease association\r\n\r\nPMID: 28112363 Li et al 2017 - HAND1 gene sequenced in 158 unrelated patients with CHDs and 600 controls. A de novo heterozygous truncating variant was identified (c.394A>T p.K132X) in a 5 month old body with double outlet right ventricle and VSD. Absent from gnomad, not present in unaffected parents or in controls. Functional analysis supported loss of HAND1 transcriptional activity.\r\n\r\nPMID: 29317578 Wang et al 2017 – article in Chinese, abstract in English. A total of 125 patients with congenital VSD and 210 controls. HAND1 truncating variant identified in an individual with VSD( c.355G>T E119X ). Absent from population database, x1 missense variant at same position 28 hets and x1 synonymous variant with 1 het present in gnomad. No segregation data\r\n\r\nPMID: 29179274 Zhi et al 2017 - A novel heterozygous mutation, a substitution of thymine for guanine at nucleotide 346 (c.346G>T), predicting the conversion of a glutamic acid-encoding codon into a stop codon at codon 116 (p.E116X), was detected in a patient with sporadic DCM out of a cohort of 120 Chinese patients with DCM versus 200 healthy controls. Absent from gnomad. No segregation data. Article in Chinese, abstract in English, unlikely to be congenital onset.\r\n\r\nPMID: 27942761 Wang et al 2017 - 165 unrelated patients with CHD and 600 unrelated controls. Heterozygous missense HAND1 variant identified in a patient with TOF (c.352C>T p.R118C) . Functional studies supporting significantly reduced transcriptional activity, absent from gnomad, damaging in silicos, no parental testing.\r\n\r\nPMID: 26581070 Zhou et al 2016 - heterozygous truncating HAND1 variant, c.313A > T p.R105X identified in a DCM family, absent in controls, reduced transcrptional activities, x1 het inframe deletion at the same position in gnomad and x1 synonymous variant. Segregated with family members with DCM and VSD.\r\n\r\nPMID: 31286141 Firulli et al 2020 – mouse models showing that myocardial deletion of Hand1 resulted in morphological defects including interventricular septal defects, abnormal LV papillary muscles and cardiac conduction system defects\r\nPMID: 29016838 Firulli et al 2017 - Hand1A126FS mutation does exhibit embryonic lethal cardiac defects in mouse models; Changed rating: AMBER; Changed publications: 31286141, 29016838, 29317578, 29179274, 28112363, 27942761, 26581070","entity_name":"HAND1","entity_type":"gene"},{"created":"2022-01-18T13:24:14.185916+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.168","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: HAND1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31286141, 29016838, 29317578, 29179274, 28112363, 27942761, 26581070; Phenotypes: Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HAND1","entity_type":"gene"},{"created":"2022-01-18T13:11:36.232383+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2366","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: FKBP8: Rating: RED; Mode of pathogenicity: None; Publications: 32969478; Phenotypes: spina bifida HP:0002414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FKBP8","entity_type":"gene"},{"created":"2022-01-18T12:00:29.045361+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10643","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: ILK: Rating: AMBER; Mode of pathogenicity: None; Publications: 17646580, 27886618, 25163546; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"ILK","entity_type":"gene"},{"created":"2022-01-18T11:20:32.562509+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10643","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: ZIC4: Rating: RED; Mode of pathogenicity: None; Publications: 21204220, 15338008; Phenotypes: ; Mode of inheritance: Unknown","entity_name":"ZIC4","entity_type":"gene"},{"created":"2022-01-18T11:20:27.386619+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.391","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: ZIC4: Rating: RED; Mode of pathogenicity: None; Publications: 21204220, 15338008; Phenotypes: ; Mode of inheritance: Unknown","entity_name":"ZIC4","entity_type":"gene"},{"created":"2022-01-18T10:52:01.038116+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2366","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: FKBP10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20696291, 20362275, 20839288, 21567934, 21567934, 23712425, 22718341; Phenotypes: Bruck syndrome 1 MIM#259450, Osteogenesis imperfecta, type XI MIM#610968; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FKBP10","entity_type":"gene"},{"created":"2022-01-18T10:12:29.593647+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2366","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 33140402, 28730625, 19589401, 33174625, 19219044, 28730625; Phenotypes: Multiple synostoses syndrome 3, OMIM # 612961, Craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"FGF9","entity_type":"gene"},{"created":"2022-01-18T10:10:21.240545+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2366","user_name":"Belinda Chong","item_type":"entity","text":"Deleted their review","entity_name":"FGF9","entity_type":"gene"},{"created":"2022-01-18T10:09:21.845573+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2366","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19589401, 28730625, 19219044; Phenotypes: Multiple synostoses syndrome 3 MIM#612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"FGF9","entity_type":"gene"},{"created":"2022-01-18T09:27:23.700899+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10643","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: FAM46A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29358272; Phenotypes: Osteogenesis imperfecta, type XVIII MIM#617952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FAM46A","entity_type":"gene"},{"created":"2022-01-18T09:26:47.212603+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2366","user_name":"Belinda Chong","item_type":"entity","text":"edited their review of gene: FAM46A: Changed publications: 29358272","entity_name":"FAM46A","entity_type":"gene"},{"created":"2022-01-18T09:26:26.348168+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2366","user_name":"Belinda Chong","item_type":"entity","text":"changed review comment from: Comment when marking as ready: HGNC approved name: TENT5A\r\n\r\nOsteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life. \r\n\r\nIn 4 children from 3 unrelated consanguineous families with osteogenesis imperfecta, Doyard et al. (2018) identified homozygosity for mutations in the FAM46A gene. The mutations were identified by exome sequencing and confirmed by Sanger sequencing.; to: Comment when marking as ready: HGNC approved name: TENT5A\r\n\r\nOsteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life. \r\n\r\nIn 4 children from 3 unrelated consanguineous families with osteogenesis imperfecta, Doyard et al. (2018) identified homozygosity for mutations in the FAM46A gene. The mutations were identified by exome sequencing and confirmed by Sanger sequencing.","entity_name":"FAM46A","entity_type":"gene"},{"created":"2022-01-18T09:25:55.276806+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2366","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: FAM46A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XVIII MIM#617952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FAM46A","entity_type":"gene"},{"created":"2022-01-17T23:47:26.448529+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10643","user_name":"Krithika Murali","item_type":"entity","text":"gene: DYNC1I1 was added\ngene: DYNC1I1 was added to Mendeliome. Sources: Expert Review,Literature\nMode of inheritance for gene: DYNC1I1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DYNC1I1 were set to 22914741; 25231166; 32219838\nPhenotypes for gene: DYNC1I1 were set to Split-hand/split-foot malformation (SHFM)\nReview for gene: DYNC1I1 was set to GREEN\nAdded comment: Gene disease association reviewed in Sept 2021 - no new publications.\r\n\r\nAt least 6 unrelated families with overlapping deletions that included exons 15 and 17 of DYNC1I1. Exons 15 and 17 have previously been shown to act as tissue-specific enhancers of Dlx5/6 in mouse and zebrafish. No SNVs reported in association with disease. \nSources: Expert Review, Literature","entity_name":"DYNC1I1","entity_type":"gene"},{"created":"2022-01-17T23:45:19.490262+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2366","user_name":"Krithika Murali","item_type":"entity","text":"gene: DYNC1I1 was added\ngene: DYNC1I1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: DYNC1I1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DYNC1I1 were set to 22914741; 25231166; 32219838\nPhenotypes for gene: DYNC1I1 were set to Split-hand/split-foot malformation (SHFM)\nReview for gene: DYNC1I1 was set to GREEN\nAdded comment: Gene disease association reviewed Sept 2021 - no new publications\r\n\r\nAt least 6 unrelated families with overlapping deletions that included exons 15 and 17 of DYNC1I1. Exons 15 and 17 have previously been shown to act as tissue-specific enhancers of Dlx5/6 in mouse and zebrafish. No SNVs reported in association with disease. \nSources: Literature","entity_name":"DYNC1I1","entity_type":"gene"},{"created":"2022-01-17T23:39:16.760598+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10643","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 28180938, 27066509, 34461831, 30229885, 28285006, 25543888, 25515806, 24796370, 23295592, 23289003, 22961344; Phenotypes: Congenital heart defects, multiple types, 5 - #617912; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GATA5","entity_type":"gene"},{"created":"2022-01-17T23:36:24.564570+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.168","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 28180938, 27066509, 34461831, 30229885, 28285006, 25543888, 25515806, 24796370, 23295592, 23289003, 22961344; Phenotypes: Congenital heart defects, multiple types, 5 - #617912; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GATA5","entity_type":"gene"},{"created":"2022-01-17T23:35:18.402703+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2366","user_name":"Krithika Murali","item_type":"entity","text":"edited their review of gene: GATA5: Added comment: OMIM gene disease association for multiple congenital heart defects both AR and AD inheritance\r\n\r\n--\r\n\r\nAR inheritance - x2 patients with congenital heart disease\r\n\r\nPMID 28180938 Hempel et al 2017 - x1 DCDA twin female born at 28+6 weeks after PROM.  Ascites, non-immune hydrops fetalis and VSD diagnosed prenatally at 20 weeks. Postnatally diagnosed with ASD, PDA, mild HCM and gallstones.  Hydrops likely secondary to congenital heart disease.  Also diagnosed with clitoromegaly with transient elevation in 17-hydroxyprogrogesterone till 10 weeks of age and normal adrenal androgen levels.  46 XX confirmed on karyotype.  Proband compound het for paternally inherited GATA 5 c.56G > C, p.Ser19Trp  variant and maternally inherited c.605C > T, p.Arg202Gln. Carrier arents and twin sister with c.605C > T, p.Arg202Gln unaffected.  Arg202Gln absent from population database, p.Ser19Trp - 241 hets in gnomad not seen in homozygous form.\r\n\r\nSupportive zebrafish models for GATA5 LoF. Previous mouse models suggest that GATA5 plays a role during mammalian embryogenesis, including heart developmen and progesterone receptor expression. \r\n\r\nPMID: 27066509 Kassab et al 2015\r\n\r\nLebanese patient cohort with high rates of consangunity. A total of 185 patients with different forms of congenital heart disease (CHD)were screened for GATA4, GATA5, GATA6 variants + 150 healthy individuals.  2 patients with homozygous GATA5 varianst identified.  One patient wtih aortic stenosis, coarctation of the aorta, VSD, PDA with homozygous p.T67P variants - in silicos benign, gnomad 4975 hets and 402 homozygotes.  Another patient with double outlet right ventricle / ASD / pulmonary stenosis and homozygous p.Y142H – present in gnomad 39 hets, 0 homozygotes, unaffected consanguineous carrier parents.\r\n\r\n---\r\nMultiple studies reporting AD inheritance for bicuspid aortic valve, congenital heart disease, DCM, AF - evidence conflicting\r\n\r\nPMID 34461831 Ma et al 2021 BMC Cardiovascular Disorders - prospective recruitment of 130 unrelated patients with bicuspid aortic valve with complex congenital heart disease being one of the exclusion criteria. 2 heterozygous GATA5 variants identified present in population database. No segregation data.\r\n\r\nPMID: 30229885 Alonso-Montes et al 2018, European Journal of Clinical Investigations - North of Spain cohort. 122 unrelated patients with bicuspid and 154 unaffected patients had GATA4, GATA5 and GATA6 sequencing. Missense p.Arg202Gln in GATA5 identified, absent from gnomad, in-silicos probably damaging, no segregation data.\r\n\r\nZhang et al 2015 PMID 25543888 - DCM cohort heterozygous GATA5 c.719G>A p.G240D identified in a family. Authors report co-segregation with DCM in multiple family members with associated VSD in 2 individuals, functional analyses showed diminished transcriptional activity. In-silicos predict possibily damaging. Variant absent from gnomad but in a region of low exome coverage\r\n\r\nShan et al 2014 PMID 25515806 - analysis of GATA5 gene promoter in 343 patients with VSD and 348 controls.  Two novel variants reported in affected individuals but also present in unaffected parents.\r\n\r\nPMID 24796370 Bonachea et al 2014 - Cohort of 78 bicuspid aortic patients (50 with isolated BAV and 28 with associated aortic coarctation) had GATA5 sanger sequencing analysis. x2 variants identified.  p.Gln3Arg variant present in 447 hets in gnomad – inherited from unaffected mother, p.Leu233Pro – present in 359 hets – apparently de novo \r\n\r\nPMID: 23289003 Wei et al 2013 Int Journal Medical Science  - cohort of 130 unrelated patients with TOF and 200 unrelated controls.  GATA5 c.559C>G p.R187G variant identified in affected individual – although variant absent from gnomad alternative aa change at same position present in gnomad including truncating frameshift variants.  GATA5 c.620A>G p.H207R – absent from gnomad.  Authors report co-segregation of both variants with TOF in multiple family members, some with additional congenital heart defects.\r\n\r\nWei et al Pediatric Cardiology 2013 PMID 22961344 - GATA5 sequenced in 120 unrelated patients with VSD and 200 controls. Heterozygous GATA5 variant p.L199V identified in a patient with VSD. Author reports co-segregation in multiple affected family members. Variant absent from gnomad with X1 synonymous het variant only at same position; Changed rating: AMBER; Changed publications: 28180938, 27066509, 34461831, 30229885, 28285006, 25543888, 25515806, 24796370, 23295592, 23289003, 22961344","entity_name":"GATA5","entity_type":"gene"},{"created":"2022-01-17T19:08:42.141495+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2366","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TECPR2 as ready","entity_name":"TECPR2","entity_type":"gene"},{"created":"2022-01-17T19:08:42.131439+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2366","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tecpr2 has been classified as Amber List (Moderate Evidence).","entity_name":"TECPR2","entity_type":"gene"},{"created":"2022-01-17T19:08:38.173042+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2366","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TECPR2 were changed from HEREDITARY SPASTIC PARAPARESIS to Spastic paraplegia 49, autosomal recessive, 615031; Autonomic-sensory neuropathy; Intellectual disability","entity_name":"TECPR2","entity_type":"gene"},{"created":"2022-01-17T19:08:25.084538+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2365","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TECPR2 were set to ","entity_name":"TECPR2","entity_type":"gene"},{"created":"2022-01-17T19:08:10.167175+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2364","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent.\r\n\r\nIncluded due to mild CC abnormalities.; to: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent.\r\n\r\nIncluded due to mild CC abnormalities, though clinical presentation is predominantly post-natal.","entity_name":"TECPR2","entity_type":"gene"},{"created":"2022-01-17T19:07:52.668319+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2364","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TECPR2: Changed rating: AMBER","entity_name":"TECPR2","entity_type":"gene"},{"created":"2022-01-17T19:07:42.424122+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2364","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent; to: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent.\r\n\r\nIncluded due to mild CC abnormalities.","entity_name":"TECPR2","entity_type":"gene"},{"created":"2022-01-17T19:06:33.146409+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2364","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTEX1D2 as ready","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2022-01-17T19:06:33.130414+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2364","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctex1d2 has been classified as Green List (High Evidence).","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2022-01-17T19:06:27.231797+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2364","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTEX1D2 were changed from Jeune asphyxiating thoracic dystrophy; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565; JATD; Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 to Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565; JATD; Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2022-01-17T19:06:11.852565+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2363","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TCTEX1D2 as Green List (high evidence)","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2022-01-17T19:06:11.842275+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2363","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctex1d2 has been classified as Green List (High Evidence).","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2022-01-17T19:05:44.323096+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2362","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCF20 as ready","entity_name":"TCF20","entity_type":"gene"},{"created":"2022-01-17T19:05:44.313389+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2362","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tcf20 has been classified as Red List (Low Evidence).","entity_name":"TCF20","entity_type":"gene"},{"created":"2022-01-17T19:05:37.707449+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBX22 as ready","entity_name":"TBX22","entity_type":"gene"},{"created":"2022-01-17T19:05:37.690715+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx22 has been classified as Red List (Low Evidence).","entity_name":"TBX22","entity_type":"gene"},{"created":"2022-01-17T19:05:34.417281+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBX22 were set to ","entity_name":"TBX22","entity_type":"gene"},{"created":"2022-01-17T19:05:07.562885+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBX22 were changed from  to Cleft palate with ankyloglossia, MIM# 303400; Abruzzo-Erickson syndrome, MIM# 302905","entity_name":"TBX22","entity_type":"gene"},{"created":"2022-01-17T19:04:43.358208+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2362","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCF20 were set to ","entity_name":"TCF20","entity_type":"gene"},{"created":"2022-01-17T19:04:35.367490+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TBX22 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TBX22","entity_type":"gene"},{"created":"2022-01-17T19:04:08.515228+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2361","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TCF20 as Red List (low evidence)","entity_name":"TCF20","entity_type":"gene"},{"created":"2022-01-17T19:04:08.504961+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2361","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tcf20 has been classified as Red List (Low Evidence).","entity_name":"TCF20","entity_type":"gene"}]}