{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1206","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1204","results":[{"created":"2021-09-22T11:21:05.660788+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HDAC4 was added\ngene: HDAC4 was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HDAC4 were set to Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability","entity_name":"HDAC4","entity_type":"gene"},{"created":"2021-09-22T11:21:05.620156+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GSC was added\ngene: GSC was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GSC were set to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471","entity_name":"GSC","entity_type":"gene"},{"created":"2021-09-22T11:21:05.574097+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GNAS was added\ngene: GNAS was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPhenotypes for gene: GNAS were set to McCune-Albright syndrome, somatic, mosaic 174800; ACTH-independent macronodular adrenal hyperplasia 219080 IC; Osseous heteroplasia, progressive 166350; Pseudohypoparathyroidism Ic 612462; Pseudopseudohypoparathyroidism 612463; Pseudohypoparathyroidism Ia 103580; Pseudohypoparathyroidism Ib 603233","entity_name":"GNAS","entity_type":"gene"},{"created":"2021-09-22T11:21:05.527610+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GJA1 was added\ngene: GJA1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GJA1 were set to Hypoplastic left heart syndrome 1 241550; Syndactyly, type III 186100; Oculodentodigital dysplasia 164200; Palmoplantar keratoderma with congenital alopecia 104100; Craniometaphyseal dysplasia, autosomal recessive 218400; Erythrokeratodermia variabilis et progressiva 133200; Oculodentodigital dysplasia, autosomal recessive 257850","entity_name":"GJA1","entity_type":"gene"},{"created":"2021-09-22T11:21:05.482959+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GDF6 was added\ngene: GDF6 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GDF6 were set to Multiple synostoses syndrome type 4 - 617898.; Klippel-Feil syndrome 1, autosomal dominant 118100","entity_name":"GDF6","entity_type":"gene"},{"created":"2021-09-22T11:21:05.437234+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FZD2 was added\ngene: FZD2 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FZD2 were set to Autosomal dominant omodysplasia 164745; Autosomal dominant omodysplasia type 2 164745","entity_name":"FZD2","entity_type":"gene"},{"created":"2021-09-22T11:21:05.392077+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FMN1 was added\ngene: FMN1 was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: FMN1 was set to Unknown","entity_name":"FMN1","entity_type":"gene"},{"created":"2021-09-22T11:21:05.347389+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FLNA was added\ngene: FLNA was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: FLNA were set to Osteodysplasty Melnick Needles 309350 XLD; Otopalatodigital syndrome, type II 304120 XLD; Frontometaphyseal dysplasia 305620; Terminal osseous dysplasia 300244; Otopalatodigital syndrome, type I -311300","entity_name":"FLNA","entity_type":"gene"},{"created":"2021-09-22T11:21:05.301930+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FIG4 was added\ngene: FIG4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FIG4 were set to Yunis-Varon syndrome 216340; Amyotrophic lateral sclerosis 11 612577","entity_name":"FIG4","entity_type":"gene"},{"created":"2021-09-22T11:21:05.252300+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FGF9 was added\ngene: FGF9 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: FGF9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FGF9 were set to Multiple synostoses syndrome type 3 612961","entity_name":"FGF9","entity_type":"gene"},{"created":"2021-09-22T11:21:05.207636+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FBXW4 was added\ngene: FBXW4 was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: FBXW4 was set to Unknown\nPhenotypes for gene: FBXW4 were set to Split-hand/foot malformation 3 syndrome 246560","entity_name":"FBXW4","entity_type":"gene"},{"created":"2021-09-22T11:21:05.167538+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FBN1 was added\ngene: FBN1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FBN1 were set to Marfan syndrome 154700; Weill-Marchesani syndrome 2, dominant 608328; Stiff skin syndrome 184900; Acromicric dysplasia 102370; Geleophysic dysplasia 2 614185","entity_name":"FBN1","entity_type":"gene"},{"created":"2021-09-22T11:21:05.124553+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FBLN1 was added\ngene: FBLN1 was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: FBLN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: FBLN1 were set to Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180","entity_name":"FBLN1","entity_type":"gene"},{"created":"2021-09-22T11:21:05.084303+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FAT1 was added\ngene: FAT1 was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: FAT1 was set to Unknown","entity_name":"FAT1","entity_type":"gene"},{"created":"2021-09-22T11:21:05.042424+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ESCO2 was added\ngene: ESCO2 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ESCO2 were set to SC phocomelia syndrome 269000; Roberts syndrome 268300","entity_name":"ESCO2","entity_type":"gene"},{"created":"2021-09-22T11:21:04.989228+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: EP300 was added\ngene: EP300 was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EP300 were set to Rubinstein-Taybi syndrome 180849","entity_name":"EP300","entity_type":"gene"},{"created":"2021-09-22T11:21:04.946770+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: EOGT was added\ngene: EOGT was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EOGT were set to Adams Oliver syndrome 4","entity_name":"EOGT","entity_type":"gene"},{"created":"2021-09-22T11:21:04.891458+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DYNC1I1 was added\ngene: DYNC1I1 was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: DYNC1I1 was set to Unknown","entity_name":"DYNC1I1","entity_type":"gene"},{"created":"2021-09-22T11:21:04.852033+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DVL3 was added\ngene: DVL3 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3, 616894","entity_name":"DVL3","entity_type":"gene"},{"created":"2021-09-22T11:21:04.808836+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DVL1 was added\ngene: DVL1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPhenotypes for gene: DVL1 were set to Robinow syndrome, autosomal dominant 2, MIM# 616331","entity_name":"DVL1","entity_type":"gene"},{"created":"2021-09-22T11:21:04.764439+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DPF2 was added\ngene: DPF2 was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: DPF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DPF2 were set to Coffin-Siris syndrome 7 MIM#618027","entity_name":"DPF2","entity_type":"gene"},{"created":"2021-09-22T11:21:04.723427+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DOCK6 was added\ngene: DOCK6 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2 614219","entity_name":"DOCK6","entity_type":"gene"},{"created":"2021-09-22T11:21:04.679767+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DLX6 was added\ngene: DLX6 was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: DLX6 was set to Unknown\nPhenotypes for gene: DLX6 were set to Split-hand/foot malformation 1 183600; Split-hand/foot malformation 1 with sensorineural hearing loss 220600","entity_name":"DLX6","entity_type":"gene"},{"created":"2021-09-22T11:21:04.640993+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DLX5 was added\ngene: DLX5 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: DLX5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: DLX5 were set to Split-hand/foot malformation 1 with sensorineural hearing loss 220600","entity_name":"DLX5","entity_type":"gene"},{"created":"2021-09-22T11:21:04.597247+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DLL4 was added\ngene: DLL4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DLL4 were set to Adams-Oliver syndrome 6, 616589","entity_name":"DLL4","entity_type":"gene"},{"created":"2021-09-22T11:21:04.553375+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DHODH was added\ngene: DHODH was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHODH were set to Miller syndrome (postaxial acrofacial dysostosis) 263750","entity_name":"DHODH","entity_type":"gene"},{"created":"2021-09-22T11:21:04.509895+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DHCR7 was added\ngene: DHCR7 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome 270400","entity_name":"DHCR7","entity_type":"gene"},{"created":"2021-09-22T11:21:04.466780+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CREBBP was added\ngene: CREBBP was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 180849","entity_name":"CREBBP","entity_type":"gene"},{"created":"2021-09-22T11:21:04.425252+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHUK was added\ngene: CHUK was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: CHUK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHUK were set to ?Popliteal pterygium syndrome, Bartsocas-Papas type 2 MIM#619339; Cocoon syndrome MIM#613630","entity_name":"CHUK","entity_type":"gene"},{"created":"2021-09-22T11:21:04.382977+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHSY1 was added\ngene: CHSY1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome 605282","entity_name":"CHSY1","entity_type":"gene"},{"created":"2021-09-22T11:21:04.332367+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CDH3 was added\ngene: CDH3 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDH3 were set to Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280","entity_name":"CDH3","entity_type":"gene"},{"created":"2021-09-22T11:21:04.288229+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FAM58A was added\ngene: FAM58A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: FAM58A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: FAM58A were set to STAR syndrome 300707","entity_name":"FAM58A","entity_type":"gene"},{"created":"2021-09-22T11:21:04.245767+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CACNA1C was added\ngene: CACNA1C was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: CACNA1C was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CACNA1C were set to Timothy syndrome MIM#601005","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2021-09-22T11:21:04.184430+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BMPR1B was added\ngene: BMPR1B was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: BMPR1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: BMPR1B were set to Acromesomelic dysplasia, Demirhan type 609441; Brachydactyly, type A1, D 616849; Brachydactyly, type A2 112600","entity_name":"BMPR1B","entity_type":"gene"},{"created":"2021-09-22T11:21:04.133103+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BMP2 was added\ngene: BMP2 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BMP2 were set to Brachydactyly, type A2 112600; short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.","entity_name":"BMP2","entity_type":"gene"},{"created":"2021-09-22T11:21:04.071015+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: B9D1 was added\ngene: B9D1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B9D1 were set to Meckel syndrome 9 614209","entity_name":"B9D1","entity_type":"gene"},{"created":"2021-09-22T11:21:04.025838+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: B3GLCT was added\ngene: B3GLCT was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GLCT were set to O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Peters-plus syndrome 261540","entity_name":"B3GLCT","entity_type":"gene"},{"created":"2021-09-22T11:21:03.965429+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARID1B was added\ngene: ARID1B was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ARID1B were set to Coffin-Siris syndrome type 1 - 135900","entity_name":"ARID1B","entity_type":"gene"},{"created":"2021-09-22T11:21:03.899599+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARID1A was added\ngene: ARID1A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ARID1A were set to Coffin-Siris","entity_name":"ARID1A","entity_type":"gene"},{"created":"2021-09-22T11:21:03.854474+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARHGAP31 was added\ngene: ARHGAP31 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ARHGAP31 were set to Adams-Oliver syndrome 1 100300","entity_name":"ARHGAP31","entity_type":"gene"},{"created":"2021-09-22T11:21:03.810167+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ANKRD11 was added\ngene: ANKRD11 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANKRD11 were set to KBG syndrome 148050","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2021-09-22T11:21:03.764424+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AFF4 was added\ngene: AFF4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AFF4 were set to CHOPS syndrome MIM#616368","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-09-22T11:21:03.720567+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ADAMTS17 was added\ngene: ADAMTS17 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTS17 were set to Weill-Marchesani syndrome type 4","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2021-09-22T11:21:03.671097+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ADAMTS10 was added\ngene: ADAMTS10 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive, 277600","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2021-09-22T11:21:03.621969+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ACVR1 was added\ngene: ACVR1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva 135100","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-09-22T11:21:03.588538+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"panel","text":"Added panel Hand and foot malformation","entity_name":null,"entity_type":null},{"created":"2021-09-22T11:15:10.742612+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.240","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TMEM107 as Green List (high evidence)","entity_name":"TMEM107","entity_type":"gene"},{"created":"2021-09-22T11:15:10.733283+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.240","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tmem107 has been classified as Green List (High Evidence).","entity_name":"TMEM107","entity_type":"gene"},{"created":"2021-09-22T11:13:34.112221+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.239","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TMEM107 was added\ngene: TMEM107 was added to Polydactyly. Sources: Expert list\nMode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM107 were set to 22698544; 26123494; 26518474\nPhenotypes for gene: TMEM107 were set to Meckel syndrome 13 MIM#617562; Orofaciodigital syndrome XVI MIM#617563\nReview for gene: TMEM107 was set to GREEN\ngene: TMEM107 was marked as current diagnostic\nAdded comment: At least four unrelated families with polydactyly as a feature of the condition and a supporting null mouse model. \nSources: Expert list","entity_name":"TMEM107","entity_type":"gene"},{"created":"2021-09-22T10:55:29.072863+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.238","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MAP3K20 as ready","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2021-09-22T10:55:29.063685+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.238","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: map3k20 has been classified as Green List (High Evidence).","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2021-09-22T10:55:20.882175+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.238","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MAP3K20 as Green List (high evidence)","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2021-09-22T10:55:20.872169+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.238","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: map3k20 has been classified as Green List (High Evidence).","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2021-09-22T10:45:08.370236+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.237","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MAP3K20 was added\ngene: MAP3K20 was added to Polydactyly. Sources: Expert list\nMode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAP3K20 were set to 26755636; 32266845\nPhenotypes for gene: MAP3K20 were set to Split-foot malformation with mesoaxial polydactyly MIM#616890\nReview for gene: MAP3K20 was set to GREEN\nAdded comment: PMID: 26755636 - Polydactyly is a feature of the condition in two consanguineous families with homozygous variants. A mouse model recapitulates the phenotype. \r\nPMID: 32266845 - A heterozygous missense was identified in a case with split hand/foot malformation (SHFM), but also large deletion including SHFM-causing genes is also present \nSources: Expert list","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2021-09-21T17:07:43.289834+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ECHS1 as ready","entity_name":"ECHS1","entity_type":"gene"},{"created":"2021-09-21T17:07:43.274165+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: echs1 has been classified as Green List (High Evidence).","entity_name":"ECHS1","entity_type":"gene"},{"created":"2021-09-21T17:07:39.456076+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ECHS1 as Green List (high evidence)","entity_name":"ECHS1","entity_type":"gene"},{"created":"2021-09-21T17:07:39.445867+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: echs1 has been classified as Green List (High Evidence).","entity_name":"ECHS1","entity_type":"gene"},{"created":"2021-09-21T17:06:57.348508+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EARS2 as ready","entity_name":"EARS2","entity_type":"gene"},{"created":"2021-09-21T17:06:57.329765+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ears2 has been classified as Green List (High Evidence).","entity_name":"EARS2","entity_type":"gene"},{"created":"2021-09-21T17:06:52.487931+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EARS2 as Green List (high evidence)","entity_name":"EARS2","entity_type":"gene"},{"created":"2021-09-21T17:06:52.477204+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ears2 has been classified as Green List (High Evidence).","entity_name":"EARS2","entity_type":"gene"},{"created":"2021-09-21T16:23:59.218697+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.121","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ARID1B as ready","entity_name":"ARID1B","entity_type":"gene"},{"created":"2021-09-21T16:23:59.208149+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.121","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arid1b has been classified as Green List (High Evidence).","entity_name":"ARID1B","entity_type":"gene"},{"created":"2021-09-21T16:23:24.565288+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.121","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ARID1B were set to ","entity_name":"ARID1B","entity_type":"gene"},{"created":"2021-09-21T16:22:02.571381+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.120","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: ARID1B was changed from  to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARID1B","entity_type":"gene"},{"created":"2021-09-21T16:19:40.594863+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.119","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Skeletal limb anomalies, spinal anomalies, and short stature have been reported as a feature of the condition. >3 cases reported.; to: Skeletal limb anomalies, spinal anomalies, and short stature have been reported as a feature of the condition. >3 cases reported, at least one case identified in a skeletal dysplasia cohort.","entity_name":"ARID1B","entity_type":"gene"},{"created":"2021-09-21T16:19:14.020460+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.119","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ARID1B as Green List (high evidence)","entity_name":"ARID1B","entity_type":"gene"},{"created":"2021-09-21T16:19:14.009658+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.119","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arid1b has been classified as Green List (High Evidence).","entity_name":"ARID1B","entity_type":"gene"},{"created":"2021-09-21T16:18:38.429209+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.118","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Skeletal limb anomalies, spinal anomalies, and short stature have been reported as a feature of the condition. > cases reported.; to: Skeletal limb anomalies, spinal anomalies, and short stature have been reported as a feature of the condition. >3 cases reported.","entity_name":"ARID1B","entity_type":"gene"},{"created":"2021-09-21T16:18:24.045784+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.118","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23929686, 34122524; Phenotypes: Coffin-Siris syndrome 1 MIM#135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"ARID1B","entity_type":"gene"},{"created":"2021-09-21T15:56:48.775374+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.118","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ARID1A as ready","entity_name":"ARID1A","entity_type":"gene"},{"created":"2021-09-21T15:56:48.765566+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.118","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arid1a has been classified as Green List (High Evidence).","entity_name":"ARID1A","entity_type":"gene"},{"created":"2021-09-21T15:55:04.642452+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.118","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ARID1A were set to ","entity_name":"ARID1A","entity_type":"gene"},{"created":"2021-09-21T15:54:04.588605+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.117","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: ARID1A was changed from  to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARID1A","entity_type":"gene"},{"created":"2021-09-21T15:53:40.394058+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.116","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ARID1A as Green List (high evidence)","entity_name":"ARID1A","entity_type":"gene"},{"created":"2021-09-21T15:53:40.384676+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.116","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arid1a has been classified as Green List (High Evidence).","entity_name":"ARID1A","entity_type":"gene"},{"created":"2021-09-21T15:53:08.612327+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.115","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: At least 5 cases have been reported with skeletal anomalies as a feature of the condition. Mosaicism is very common for the gene.; to: At least 5 cases have been reported with skeletal anomalies (brachydactyly and polydactyly) as a feature of the condition. Mosaicism is very common for the gene.","entity_name":"ARID1A","entity_type":"gene"},{"created":"2021-09-21T15:52:33.339479+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.115","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ARID1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23929686, 32888375; Phenotypes: Coffin-Siris syndrome 2 MM#614607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"ARID1A","entity_type":"gene"},{"created":"2021-09-21T15:36:12.448597+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.116","user_name":"Danielle Ariti","item_type":"entity","text":"gene: ECHS1 was added\ngene: ECHS1 was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ECHS1 were set to 33528536; 34364746; 32858208\nPhenotypes for gene: ECHS1 were set to Cerebral Palsy; Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277\nReview for gene: ECHS1 was set to GREEN\nAdded comment: Two cases in CP cohort reported with compound heterozygous ECHS1variants. \r\nOne of the individuals presented with delayed motor skills with coordination problems, dystonia (at age 11), and spasticity in upper and lower limbs.\r\n\r\nECHS1 variants cause an inborn error of metabolism disorder characterised by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. Some of these cases display paroxysmal and non-paroxysmal dystonia. \nSources: Expert list","entity_name":"ECHS1","entity_type":"gene"},{"created":"2021-09-21T15:10:45.839733+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.116","user_name":"Danielle Ariti","item_type":"entity","text":"gene: EARS2 was added\ngene: EARS2 was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EARS2 were set to 33528536; 34364746\nPhenotypes for gene: EARS2 were set to Cerebral Palsy; Combined oxidative phosphorylation deficiency 12 MIM# 614924\nReview for gene: EARS2 was set to GREEN\nAdded comment: Two individuals in CP cohort reported with bi-allelic EARS2 variants. \r\nOne of the individuals presented with severe ID, ASD and seizures on top of impaired motor symptoms.\r\n\r\nOverlapping CP phenotype with COXPD12- mitochondrial neurologic disorder characterised by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression. Severe cases can present with Dystonia, Spastic tetraparesis and/or lack of speech. \nSources: Expert list","entity_name":"EARS2","entity_type":"gene"},{"created":"2021-09-21T14:51:02.160265+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1195","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPEN as ready","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T14:51:02.133872+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1195","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spen has been classified as Amber List (Moderate Evidence).","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T14:50:57.494737+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1195","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPEN as Amber List (moderate evidence)","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T14:50:57.485440+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1195","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spen has been classified as Amber List (Moderate Evidence).","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T14:50:13.053565+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPEN as ready","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T14:50:13.041635+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spen has been classified as Green List (High Evidence).","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T14:50:08.656289+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPEN as Green List (high evidence)","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T14:50:08.646932+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spen has been classified as Green List (High Evidence).","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T14:49:31.460667+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPEN as ready","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T14:49:31.446087+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spen has been classified as Green List (High Evidence).","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T14:49:26.806756+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPEN as Green List (high evidence)","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T14:49:26.797285+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spen has been classified as Green List (High Evidence).","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T14:48:58.442234+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.93","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPEN as ready","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T14:48:58.432793+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spen has been classified as Amber List (Moderate Evidence).","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T14:48:53.719943+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.93","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPEN as Amber List (moderate evidence)","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T14:48:53.709609+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spen has been classified as Amber List (Moderate Evidence).","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T14:48:08.047540+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.115","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: AFF4 as ready","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-09-21T14:48:08.032633+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.115","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: aff4 has been classified as Green List (High Evidence).","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-09-21T14:47:54.846230+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.115","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AFF4 as Green List (high evidence)","entity_name":"AFF4","entity_type":"gene"}]}