{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1205","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1203","results":[{"created":"2021-09-22T15:44:29.532198+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDKN1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2021-09-22T15:43:55.229365+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 22634751, 33076988, 31976094, 31497289; Phenotypes: IMAGe syndrome, MIM# 614732; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2021-09-22T15:42:27.451097+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9207","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDKN1C as ready","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2021-09-22T15:42:27.423067+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkn1c has been classified as Green List (High Evidence).","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2021-09-22T15:42:16.105984+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9207","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDKN1C were changed from  to Beckwith-Wiedemann syndrome, MIM# 130650; IMAGe syndrome, MIM# 614732; Silver-Russell syndrome","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2021-09-22T15:41:57.785340+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9206","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDKN1C were set to ","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2021-09-22T15:41:38.419887+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9205","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDKN1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2021-09-22T15:41:16.311210+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9204","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 10424811, 8841187, 22205991, 20503313, 19843502, 15372379, 23511928, 30794780, 33076988, 31976094, 31497289; Phenotypes: Beckwith-Wiedemann syndrome, MIM# 130650, IMAGe syndrome, MIM# 614732, Silver-Russell syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2021-09-22T15:40:16.944163+10:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDKN1C as ready","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2021-09-22T15:40:16.932846+10:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkn1c has been classified as Green List (High Evidence).","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2021-09-22T15:40:13.292064+10:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDKN1C were set to 10424811; PMID: 8841187; 22205991]; 20503313; 19843502; http://igc.otago.ac.nz/home.html; [15372379; 23511928; 30794780","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2021-09-22T15:39:56.896174+10:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 10424811, 8841187, 22205991, 20503313, 19843502, 15372379, 23511928, 30794780, 33076988, 31976094, 31497289; Phenotypes: Beckwith-Wiedemann syndrome, MIM# 130650, IMAGe syndrome, MIM# 614732, Silver-Russell syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2021-09-22T14:32:32.816167+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DYNC1I1 as ready","entity_name":"DYNC1I1","entity_type":"gene"},{"created":"2021-09-22T14:32:32.805883+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dync1i1 has been classified as Green List (High Evidence).","entity_name":"DYNC1I1","entity_type":"gene"},{"created":"2021-09-22T14:32:26.813606+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: DYNC1I1 were changed from  to Split-hand/split-foot malformation (SHFM)","entity_name":"DYNC1I1","entity_type":"gene"},{"created":"2021-09-22T14:32:18.516640+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: DYNC1I1 were set to ","entity_name":"DYNC1I1","entity_type":"gene"},{"created":"2021-09-22T14:32:10.569565+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: DYNC1I1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DYNC1I1","entity_type":"gene"},{"created":"2021-09-22T14:31:59.351686+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Tag SV/CNV tag was added to gene: DYNC1I1.","entity_name":"DYNC1I1","entity_type":"gene"},{"created":"2021-09-22T14:31:49.681874+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DYNC1I1 as Green List (high evidence)","entity_name":"DYNC1I1","entity_type":"gene"},{"created":"2021-09-22T14:31:49.668580+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dync1i1 has been classified as Green List (High Evidence).","entity_name":"DYNC1I1","entity_type":"gene"},{"created":"2021-09-22T14:31:36.190993+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: DYNC1I1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22914741, 25231166, 32219838; Phenotypes: Split-hand/split-foot malformation (SHFM); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DYNC1I1","entity_type":"gene"},{"created":"2021-09-22T13:54:52.973324+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DPF2 as ready","entity_name":"DPF2","entity_type":"gene"},{"created":"2021-09-22T13:54:52.962716+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dpf2 has been classified as Green List (High Evidence).","entity_name":"DPF2","entity_type":"gene"},{"created":"2021-09-22T13:54:49.565648+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DPF2 as Green List (high evidence)","entity_name":"DPF2","entity_type":"gene"},{"created":"2021-09-22T13:54:49.555497+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dpf2 has been classified as Green List (High Evidence).","entity_name":"DPF2","entity_type":"gene"},{"created":"2021-09-22T13:54:40.115668+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429572; Phenotypes: Coffin-Siris syndrome 7 MIM#618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"DPF2","entity_type":"gene"},{"created":"2021-09-22T13:49:46.470003+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DLX6 as ready","entity_name":"DLX6","entity_type":"gene"},{"created":"2021-09-22T13:49:46.458512+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dlx6 has been classified as Red List (Low Evidence).","entity_name":"DLX6","entity_type":"gene"},{"created":"2021-09-22T13:49:41.438382+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: DLX6 were changed from Split-hand/foot malformation 1 183600; Split-hand/foot malformation 1 with sensorineural hearing loss 220600 to Split-hand/foot malformation 1 183600","entity_name":"DLX6","entity_type":"gene"},{"created":"2021-09-22T13:49:11.449893+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: DLX6 were set to ","entity_name":"DLX6","entity_type":"gene"},{"created":"2021-09-22T13:49:03.303084+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: DLX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DLX6","entity_type":"gene"},{"created":"2021-09-22T13:48:48.382596+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: DLX6: Rating: RED; Mode of pathogenicity: None; Publications: 28611547; Phenotypes: Split-hand and foot malformation (SHFM, MIM 183600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DLX6","entity_type":"gene"},{"created":"2021-09-22T13:37:19.266268+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CHUK as ready","entity_name":"CHUK","entity_type":"gene"},{"created":"2021-09-22T13:37:19.252489+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: chuk has been classified as Amber List (Moderate Evidence).","entity_name":"CHUK","entity_type":"gene"},{"created":"2021-09-22T13:37:07.219289+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: CHUK were set to ","entity_name":"CHUK","entity_type":"gene"},{"created":"2021-09-22T13:36:55.508906+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: CHUK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CHUK","entity_type":"gene"},{"created":"2021-09-22T13:36:41.727995+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CHUK as Amber List (moderate evidence)","entity_name":"CHUK","entity_type":"gene"},{"created":"2021-09-22T13:36:41.717467+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: chuk has been classified as Amber List (Moderate Evidence).","entity_name":"CHUK","entity_type":"gene"},{"created":"2021-09-22T13:31:08.177304+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ARHGAP31 as ready","entity_name":"ARHGAP31","entity_type":"gene"},{"created":"2021-09-22T13:31:08.164291+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arhgap31 has been classified as Green List (High Evidence).","entity_name":"ARHGAP31","entity_type":"gene"},{"created":"2021-09-22T13:31:03.839482+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ARHGAP31 were set to ","entity_name":"ARHGAP31","entity_type":"gene"},{"created":"2021-09-22T13:30:00.438927+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ARHGAP31: Rating: GREEN; Mode of pathogenicity: None; Publications: 21565291, 24668619, 29924900; Phenotypes: Adams-Oliver syndrome 1 MIM#100300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARHGAP31","entity_type":"gene"},{"created":"2021-09-22T13:13:51.165978+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9204","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: B9D1 as Green List (high evidence)","entity_name":"B9D1","entity_type":"gene"},{"created":"2021-09-22T13:13:51.156801+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9204","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: b9d1 has been classified as Green List (High Evidence).","entity_name":"B9D1","entity_type":"gene"},{"created":"2021-09-22T13:13:15.666755+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9203","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: hNow N\r\nPMID: 34338422 - compound het missense and frameshift variant in a proband with anal atresia with vestibular fistula, ventricular septal defect, and right renal agenesis (VACTERL cohort)\r\nPMID: 21763481 - B9d1 -/- mouse displayed polydactyly, kidney cysts, ductal plate malformations, and abnormal patterning of the neural tube, concomitant with compromised ciliogenesis, ciliary protein localization, and Hedgehog (Hh) signal transduction.; to: 3 unrelated cases with a syndromic phenotype and a supporting null mouse model\r\nPMID: 34338422 - compound het missense and frameshift variant in a proband with anal atresia with vestibular fistula, ventricular septal defect, and right renal agenesis (VACTERL cohort)\r\nPMID: 24886560 - 2 Joubert syndrome cases\r\nPMID: 21763481 - B9d1 -/- mouse displayed polydactyly, kidney cysts, ductal plate malformations, and abnormal patterning of the neural tube, concomitant with compromised ciliogenesis, ciliary protein localization, and Hedgehog (Hh) signal transduction.","entity_name":"B9D1","entity_type":"gene"},{"created":"2021-09-22T13:10:38.540326+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9203","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21763481, 24886560, 34338422; Phenotypes: Meckel syndrome, Joubert syndrome, VACTERL; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"B9D1","entity_type":"gene"},{"created":"2021-09-22T12:33:10.370219+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9203","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: LEFTY2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 10518210, 10053005; Phenotypes: Heterotaxy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"LEFTY2","entity_type":"gene"},{"created":"2021-09-22T12:12:30.183506+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:B9D1 from the panel","entity_name":null,"entity_type":null},{"created":"2021-09-22T11:33:43.379678+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.1","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2021-09-22T11:21:08.125553+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WNT5A was added\ngene: WNT5A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1 180700","entity_name":"WNT5A","entity_type":"gene"},{"created":"2021-09-22T11:21:08.075912+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WNT3 was added\ngene: WNT3 was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNT3 were set to Tetra-amelia syndrome 273395","entity_name":"WNT3","entity_type":"gene"},{"created":"2021-09-22T11:21:08.030091+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WNT10B was added\ngene: WNT10B was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNT10B were set to Split-hand/foot malformation 6 225300","entity_name":"WNT10B","entity_type":"gene"},{"created":"2021-09-22T11:21:07.976990+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TRPV4 was added\ngene: TRPV4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TRPV4 were set to Parastremmatic dwarfism 168400; Metatropic dysplasia 156530; Spinal muscular atrophy, distal, congenital nonprogressive 600175; Scapuloperoneal spinal muscular atrophy 181405; SED, Maroteaux type 184095; Spondylometaphyseal dysplasia, Kozlowski type 184252; Hereditary motor and sensory neuropathy, type IIc 606071; Brachyolmia type 3 113500; Digital arthropathy-brachydactyly, familial 606835","entity_name":"TRPV4","entity_type":"gene"},{"created":"2021-09-22T11:21:07.923690+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TRPS1 was added\ngene: TRPS1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TRPS1 were set to Trichorhinophalangeal syndrome, type III 190351; Trichorhinophalangeal syndrome, type I 190350","entity_name":"TRPS1","entity_type":"gene"},{"created":"2021-09-22T11:21:07.868285+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TP63 was added\ngene: TP63 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TP63 were set to Hay-Wells syndrome 106260; Rapp-Hodgkin syndrome 129400; Limb-mammary syndrome 603543; Split-hand/foot malformation 4 605289; Orofacial cleft 8 129400; ULT syndrome 103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292","entity_name":"TP63","entity_type":"gene"},{"created":"2021-09-22T11:21:07.814138+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TGDS was added\ngene: TGDS was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: TGDS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TGDS were set to Catel-Manzke syndrome 616145","entity_name":"TGDS","entity_type":"gene"},{"created":"2021-09-22T11:21:07.766234+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TBX15 was added\ngene: TBX15 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBX15 were set to Cousin syndrome 260660","entity_name":"TBX15","entity_type":"gene"},{"created":"2021-09-22T11:21:07.714101+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SOX9 was added\ngene: SOX9 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SOX9 were set to Campomelic dysplasia with autosomal sex reversal 114290","entity_name":"SOX9","entity_type":"gene"},{"created":"2021-09-22T11:21:07.658747+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SOST was added\ngene: SOST was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: SOST was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SOST were set to Van Buchem disease 239100; Sclerosteosis 1 269500; Craniodiaphyseal dysplasia, autosomal dominant 122860","entity_name":"SOST","entity_type":"gene"},{"created":"2021-09-22T11:21:07.608322+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SMC3 was added\ngene: SMC3 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMC3 were set to Cornelia de Lange syndrome 3 610759","entity_name":"SMC3","entity_type":"gene"},{"created":"2021-09-22T11:21:07.557249+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SMC1A was added\ngene: SMC1A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: SMC1A 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: SMC1A were set to Cornelia de Lange syndrome 2 300590","entity_name":"SMC1A","entity_type":"gene"},{"created":"2021-09-22T11:21:07.507368+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SMARCE1 was added\ngene: SMARCE1 was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMARCE1 were set to Coffin-Siris syndrome 5 MIM#616938","entity_name":"SMARCE1","entity_type":"gene"},{"created":"2021-09-22T11:21:07.463595+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SMARCB1 was added\ngene: SMARCB1 was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMARCB1 were set to Coffin-Siris syndrome 3 MIM#614608","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2021-09-22T11:21:07.420212+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SMARCA4 was added\ngene: SMARCA4 was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMARCA4 were set to Coffin-Siris syndrome 4 MIM#614609","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2021-09-22T11:21:07.374557+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SMARCA2 was added\ngene: SMARCA2 was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMARCA2 were set to Nicolaides-Baraitser syndrome MIM#601358","entity_name":"SMARCA2","entity_type":"gene"},{"created":"2021-09-22T11:21:07.329597+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SMAD4 was added\ngene: SMAD4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD4 were set to Myhre syndrome 139210","entity_name":"SMAD4","entity_type":"gene"},{"created":"2021-09-22T11:21:07.276641+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SF3B4 was added\ngene: SF3B4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SF3B4 were set to Acrofacial dysostosis 1, Nager type 154400","entity_name":"SF3B4","entity_type":"gene"},{"created":"2021-09-22T11:21:07.223587+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ROR2 was added\ngene: ROR2 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ROR2 were set to Robinow syndrome, autosomal recessive 268310; Brachydactyly, type B1 113000","entity_name":"ROR2","entity_type":"gene"},{"created":"2021-09-22T11:21:07.174655+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RECQL4 was added\ngene: RECQL4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome 268400; RAPILINO syndrome 266280; Baller-Gerold syndrome 218600","entity_name":"RECQL4","entity_type":"gene"},{"created":"2021-09-22T11:21:07.125226+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RBPJ was added\ngene: RBPJ was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RBPJ were set to Adams-Oliver syndrome 3, 614814","entity_name":"RBPJ","entity_type":"gene"},{"created":"2021-09-22T11:21:07.078082+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RBM8A was added\ngene: RBM8A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome 274000","entity_name":"RBM8A","entity_type":"gene"},{"created":"2021-09-22T11:21:07.031607+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RAD21 was added\ngene: RAD21 was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAD21 were set to Cornelia de Lange syndrome 4 614701","entity_name":"RAD21","entity_type":"gene"},{"created":"2021-09-22T11:21:06.988058+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PTHLH was added\ngene: PTHLH was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTHLH were set to Brachydactyly, type E2 613382","entity_name":"PTHLH","entity_type":"gene"},{"created":"2021-09-22T11:21:06.936434+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PTDSS1 was added\ngene: PTDSS1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTDSS1 were set to Lenz-Majewski hyperostotic dwarfism 151050","entity_name":"PTDSS1","entity_type":"gene"},{"created":"2021-09-22T11:21:06.881273+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PRMT7 was added\ngene: PRMT7 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRMT7 were set to Short stature, brachydactyly, intellectual developmental disability, and seizures 617157","entity_name":"PRMT7","entity_type":"gene"},{"created":"2021-09-22T11:21:06.831142+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PRKAR1A was added\ngene: PRKAR1A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: PRKAR1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PRKAR1A were set to Myxoma, intracardiac 255960; Acrodysostosis 1, with or without hormone resistance 101800; Pigmented nodular adrenocortical disease, primary, 1 610489","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2021-09-22T11:21:06.783624+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POLR1A was added\ngene: POLR1A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: POLR1A were set to Acrofacial dysostosis, Cincinnati type 616462","entity_name":"POLR1A","entity_type":"gene"},{"created":"2021-09-22T11:21:06.736004+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PIGV was added\ngene: PIGV was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1 239300","entity_name":"PIGV","entity_type":"gene"},{"created":"2021-09-22T11:21:06.688252+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PHF6 was added\ngene: PHF6 was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome MIM#301900","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-09-22T11:21:06.642261+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PGM3 was added\ngene: PGM3 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGM3 were set to Immunodeficiency 23 615816","entity_name":"PGM3","entity_type":"gene"},{"created":"2021-09-22T11:21:06.595302+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PDE4D was added\ngene: PDE4D was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PDE4D were set to Acrodysostosis 2, with or without hormone resistance 614613","entity_name":"PDE4D","entity_type":"gene"},{"created":"2021-09-22T11:21:06.547122+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PDE3A was added\ngene: PDE3A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome, 112410","entity_name":"PDE3A","entity_type":"gene"},{"created":"2021-09-22T11:21:06.500056+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NXN was added\ngene: NXN was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: NXN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NXN were set to Robinow syndrome, autosomal recessive 2 MIM#618529","entity_name":"NXN","entity_type":"gene"},{"created":"2021-09-22T11:21:06.455131+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NSDHL was added\ngene: NSDHL was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: NSDHL 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: NSDHL were set to CK syndrome 300831; Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050","entity_name":"NSDHL","entity_type":"gene"},{"created":"2021-09-22T11:21:06.405141+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NOTCH1 was added\ngene: NOTCH1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NOTCH1 were set to Limb, scalp and skull defects; AOS; Adams-Oliver syndrome 5, 616028; Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly)","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2021-09-22T11:21:06.353261+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NOG was added\ngene: NOG was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NOG were set to Stapes ankylosis with broad thumb and toes 184460; Symphalangism, proximal, 1A 185800; Multiple synostoses syndrome 1 186500; Tarsal-carpal coalition syndrome 186570; Brachydactyly, type B2 611377","entity_name":"NOG","entity_type":"gene"},{"created":"2021-09-22T11:21:06.306937+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NIPBL was added\ngene: NIPBL was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NIPBL were set to Cornelia de Lange syndrome 1 122470","entity_name":"NIPBL","entity_type":"gene"},{"created":"2021-09-22T11:21:06.260430+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NECTIN4 was added\ngene: NECTIN4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: NECTIN4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NECTIN4 were set to Ectodermal dysplasia-syndactyly syndrome 1 MIM#613573","entity_name":"NECTIN4","entity_type":"gene"},{"created":"2021-09-22T11:21:06.213237+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NECTIN1 was added\ngene: NECTIN1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2021-09-22T11:21:06.166818+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MYCN was added\ngene: MYCN was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYCN were set to Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280","entity_name":"MYCN","entity_type":"gene"},{"created":"2021-09-22T11:21:06.116775+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MGP was added\ngene: MGP was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MGP were set to Keutel syndrome 245150","entity_name":"MGP","entity_type":"gene"},{"created":"2021-09-22T11:21:06.066591+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LTBP3 was added\ngene: LTBP3 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: LTBP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: LTBP3 were set to Geleophysic dysplasia 3 617809; Dental anomalies and short stature 610216","entity_name":"LTBP3","entity_type":"gene"},{"created":"2021-09-22T11:21:06.021152+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LTBP2 was added\ngene: LTBP2 was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: LTBP2 was set to Unknown\nPhenotypes for gene: LTBP2 were set to Weill-Marchesani","entity_name":"LTBP2","entity_type":"gene"},{"created":"2021-09-22T11:21:05.977220+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LRP4 was added\ngene: LRP4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: LRP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: LRP4 were set to Sclerosteosis 2 614305; Cenani-Lenz syndactyly syndrome 212780","entity_name":"LRP4","entity_type":"gene"},{"created":"2021-09-22T11:21:05.923977+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KMT2D was added\ngene: KMT2D was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KMT2D were set to Kabuki syndrome 1 - 147920","entity_name":"KMT2D","entity_type":"gene"},{"created":"2021-09-22T11:21:05.876145+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KMT2A was added\ngene: KMT2A was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome MIM#605130","entity_name":"KMT2A","entity_type":"gene"},{"created":"2021-09-22T11:21:05.832844+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KDM6A was added\ngene: KDM6A was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: KDM6A 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: KDM6A were set to Kabuki syndrome 2 MIM#300867","entity_name":"KDM6A","entity_type":"gene"},{"created":"2021-09-22T11:21:05.791550+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: IHH was added\ngene: IHH was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: IHH were set to Brachydactyly, type A1 112500; Acrocapitofemoral dysplasia 607778","entity_name":"IHH","entity_type":"gene"},{"created":"2021-09-22T11:21:05.746670+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: IFT57 was added\ngene: IFT57 was added to Hand and foot malformation. Sources: Expert list\nMode of inheritance for gene: IFT57 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT57 were set to ?Orofaciodigital syndrome XVIII MIM#617927","entity_name":"IFT57","entity_type":"gene"},{"created":"2021-09-22T11:21:05.705255+10:00","panel_name":"Hand and foot malformation","panel_id":3729,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HDAC8 was added\ngene: HDAC8 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: HDAC8 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: HDAC8 were set to Wilson-Turner syndrome 309585; Cornelia de Lange syndrome 5 300882","entity_name":"HDAC8","entity_type":"gene"}]}