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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1584",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1582",
"results": [
{
"created": "2020-09-16T18:00:29.211949+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGAP2 was added\ngene: PGAP2 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: PGAP2 was set to Unknown\nPhenotypes for gene: PGAP2 were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3",
"entity_name": "PGAP2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:29.013535+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NSDHL was added\ngene: NSDHL was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NSDHL were set to CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:28.813351+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKX2-6 was added\ngene: NKX2-6 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: NKX2-6 was set to Unknown\nPhenotypes for gene: NKX2-6 were set to CTHM; CONOTRUNCAL HEART MALFORMATIONS",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:28.611636+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKX2-5 was added\ngene: NKX2-5 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: NKX2-5 was set to Unknown\nPublications for gene: NKX2-5 were set to 22155005\nPhenotypes for gene: NKX2-5 were set to CTHM; CONOTRUNCAL HEART MALFORMATIONS",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:28.413610+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NBN was added\ngene: NBN was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NBN were set to 3857858; 22373003\nPhenotypes for gene: NBN were set to Nijmegen breakage syndrome, 251260; NBS",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:28.214597+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: METTL23 was added\ngene: METTL23 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: METTL23 were set to 24501276\nPhenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44, 615942; MRT44",
"entity_name": "METTL23",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:28.016571+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED12 was added\ngene: MED12 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MED12 were set to 12784307\nPhenotypes for gene: MED12 were set to Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:27.821572+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMX1B was added\ngene: LMX1B was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: LMX1B were set to 2012138\nPhenotypes for gene: LMX1B were set to Nail-patella syndrome, 161200",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:27.620820+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF22 was added\ngene: KIF22 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KIF22 were set to 22653704\nPhenotypes for gene: KIF22 were set to SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:27.423542+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KAT6B was added\ngene: KAT6B was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KAT6B were set to 20182757; 27031267\nPhenotypes for gene: KAT6B were set to Genitopatellar syndrome, 606170; GTPTS",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:27.224121+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KANSL1 was added\ngene: KANSL1 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KANSL1 were set to 20301783; 22544363\nPhenotypes for gene: KANSL1 were set to KDVS; Koolen-De Vries syndrome, 610443",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:27.025080+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INTS1 was added\ngene: INTS1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: INTS1 was set to Unknown\nPhenotypes for gene: INTS1 were set to Cleft palate",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:26.818643+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HOXA2 was added\ngene: HOXA2 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Victorian Clinical Genetics Services\nMode of inheritance for gene: HOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: HOXA2 were set to 18394579; 23775976; 27503514\nPhenotypes for gene: HOXA2 were set to Ear anomalies and orofacial clefting; Microtia, Hearing Impairment, and Cleft Palate; Cleft palate; ?Microtia with or without hearing impairment (includes clefting), 612290, (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); ?Microtia with or without hearing impairment (includes clefting), 612290, (BIALLELIC, autosomal or pseudoautosomal)",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:26.612569+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GYPE was added\ngene: GYPE was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: GYPE was set to Unknown",
"entity_name": "GYPE",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:26.413479+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRIP1 was added\ngene: GRIP1 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: GRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GRIP1 were set to 22510445; 16894541; 18000968\nPhenotypes for gene: GRIP1 were set to Fraser syndrome, 219000",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:26.145153+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAI3 was added\ngene: GNAI3 was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: GNAI3 was set to Unknown\nPhenotypes for gene: GNAI3 were set to Cleft palate",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:25.935553+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GMNN was added\ngene: GMNN was added to Clefting_GEL. Sources: Expert list,Expert Review Red,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GMNN were set to 26637980\nPhenotypes for gene: GMNN were set to Meier-Gorlin syndrome 6, 616835",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:25.728590+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDF1 was added\ngene: GDF1 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: GDF1 was set to Unknown\nPublications for gene: GDF1 were set to 16564040\nPhenotypes for gene: GDF1 were set to CTHM; CONOTRUNCAL HEART MALFORMATIONS",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:25.535018+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA6 was added\ngene: GATA6 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: GATA6 was set to Unknown\nPublications for gene: GATA6 were set to 27391658\nPhenotypes for gene: GATA6 were set to CTHM; CONOTRUNCAL HEART MALFORMATIONS",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:25.337319+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FREM2 was added\ngene: FREM2 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FREM2 were set to 15838507; 16894541; 18671281; 18203166\nPhenotypes for gene: FREM2 were set to Fraser syndrome, 219000",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:25.126790+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXE1 was added\ngene: FOXE1 was added to Clefting_GEL. Sources: Victorian Clinical Genetics Services\nMode of inheritance for gene: FOXE1 was set to Unknown\nPhenotypes for gene: FOXE1 were set to Cleft palate",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:24.933898+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCL was added\ngene: FANCL was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Red\nMode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCL were set to 25754594\nPhenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, 614083",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:24.716413+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM111A was added\ngene: FAM111A was added to Clefting_GEL. Sources: Expert list,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FAM111A were set to 23684011; 16086393\nPhenotypes for gene: FAM111A were set to 602361; Gracile bone dysplasia",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:24.515890+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EDN1 was added\ngene: EDN1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: EDN1 was set to Unknown\nPhenotypes for gene: EDN1 were set to Cleft palate",
"entity_name": "EDN1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:24.316883+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNMT3B was added\ngene: DNMT3B was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNMT3B were set to 17893117; 23486536\nPhenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 267000",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:24.119013+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLG1 was added\ngene: DLG1 was added to Clefting_GEL. Sources: Literature,Expert Review Red\nMode of inheritance for gene: DLG1 was set to Unknown\nPublications for gene: DLG1 were set to PMID: 28926086\nPhenotypes for gene: DLG1 were set to Non-syndromic cleft lip with or without cleft palate",
"entity_name": "DLG1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:23.917628+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DIS3L2 was added\ngene: DIS3L2 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DIS3L2 were set to 23486540; 22306653; 28328139\nPhenotypes for gene: DIS3L2 were set to Perlman syndrome, 267000",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:23.436220+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL9A3 was added\ngene: COL9A3 was added to Clefting_GEL. Sources: Victorian Clinical Genetics Services\nMode of inheritance for gene: COL9A3 was set to Unknown\nPhenotypes for gene: COL9A3 were set to Cleft palate",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:23.232253+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CKAP2L was added\ngene: CKAP2L was added to Clefting_GEL. Sources: Expert list,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CKAP2L were set to 12416644; 15365457\nPhenotypes for gene: CKAP2L were set to Filippi syndrome, 272440",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:23.021050+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHSY1 was added\ngene: CHSY1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHSY1 were set to 15365460\nPhenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome, 605282; TPBS",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:22.820945+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHD1 was added\ngene: CHD1 was added to Clefting_GEL. Sources: Victorian Clinical Genetics Services\nMode of inheritance for gene: CHD1 was set to Unknown\nPhenotypes for gene: CHD1 were set to Cleft palate",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:22.626387+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASK was added\ngene: CASK was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: CASK was set to Unknown\nPhenotypes for gene: CASK were set to MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:22.430782+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CANT1 was added\ngene: CANT1 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: CANT1 was set to Unknown\nPublications for gene: CANT1 were set to 27881841\nPhenotypes for gene: CANT1 were set to DBQD1; DESBUQUOIS DYSPLASIA 1",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:22.234781+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BMP4 was added\ngene: BMP4 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services\nMode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: BMP4 were set to Cleft lip with or without cleft palate, non syndromic, 11; MCOPS6, OROFACIAL CLEFT 11; OFC11; Orofacial Cleft; Cleft Lip with or without Cleft Palate; Cleft lip; MICROPHTHALMIA, SYNDROMIC 6; Orofacial cleft 11, 600625",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:22.025986+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B3GAT3 was added\ngene: B3GAT3 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: B3GAT3 was set to Unknown\nPhenotypes for gene: B3GAT3 were set to JDSCD; MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:21.830683+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATRX was added\ngene: ATRX was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: ATRX was set to Unknown\nPublications for gene: ATRX were set to 9788563\nPhenotypes for gene: ATRX were set to MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:21.644879+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARCN1 was added\ngene: ARCN1 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ARCN1 were set to 27476655\nPhenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 617164",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:21.451856+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG9 was added\ngene: ALG9 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG9 were set to GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:21.310665+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACBD5 was added\ngene: ACBD5 was added to Clefting_GEL. Sources: Victorian Clinical Genetics Services\nMode of inheritance for gene: ACBD5 was set to Unknown\nPhenotypes for gene: ACBD5 were set to Cleft palate",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:21.126331+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZMPSTE24 was added\ngene: ZMPSTE24 was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZMPSTE24 were set to RESTRICTIVE DERMOPATHY, LETHAL",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:20.923347+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZBTB24 was added\ngene: ZBTB24 was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZBTB24 were set to 23486536\nPhenotypes for gene: ZBTB24 were set to IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:20.729002+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR60 was added\ngene: WDR60 was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR60 were set to SRTD8; SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:20.539918+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR35 was added\ngene: WDR35 was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR35 were set to SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:20.405791+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR34 was added\ngene: WDR34 was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR34 were set to SRTD11; SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY",
"entity_name": "WDR34",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:20.212531+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR19 was added\ngene: WDR19 was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR19 were set to SRTD5; SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:20.034997+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC21B was added\ngene: TTC21B was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC21B were set to SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; SRTD4",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:19.822967+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX15 was added\ngene: TBX15 was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBX15 were set to COUSIN SYNDROME",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:19.630840+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX1 was added\ngene: TBX1 was added to Clefting_GEL. Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TBX1 were set to CTHM; CONOTRUNCAL HEART MALFORMATIONS; Cleft palate",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:19.432390+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMG9 was added\ngene: SMG9 was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMG9 were set to 27018474\nPhenotypes for gene: SMG9 were set to HBMS; HEART AND BRAIN MALFORMATION SYNDROME",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:19.245255+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC23A was added\ngene: SEC23A was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SEC23A were set to CLSD; CRANIOLENTICULOSUTURAL DYSPLASIA",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:19.105851+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RYR1 was added\ngene: RYR1 was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RYR1 were set to 23553484\nPhenotypes for gene: RYR1 were set to CCD; CENTRAL CORE DISEASE OF MUSCLE",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:18.911087+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS28 was added\ngene: RPS28 was added to Clefting_GEL. Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RPS28 were set to DBA15; DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; Cleft palate",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:18.710925+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBPJ was added\ngene: RBPJ was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RBPJ were set to 28160419; 22883147\nPhenotypes for gene: RBPJ were set to ADAMS-OLIVER SYNDROME",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:18.519128+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RARB was added\ngene: RARB was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: RARB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RARB were set to MICROPHTHALMIA, SYNDROMIC 12; MCOPS12",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:18.322873+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR1A was added\ngene: POLR1A was added to Clefting_GEL. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: POLR1A were set to 25913037\nPhenotypes for gene: POLR1A were set to cleft palte",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:18.123161+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLEKHA7 was added\ngene: PLEKHA7 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: PLEKHA7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PLEKHA7 were set to 29805042\nPhenotypes for gene: PLEKHA7 were set to cleft lip",
"entity_name": "PLEKHA7",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:17.923070+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHGDH was added\ngene: PHGDH was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PHGDH were set to 25152457; 24836451\nPhenotypes for gene: PHGDH were set to NEU-LAXOVA SYNDROME 1; NLS1",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:17.730570+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEOX1 was added\ngene: MEOX1 was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MEOX1 were set to 23290072; 24073994\nPhenotypes for gene: MEOX1 were set to KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE; KFS2",
"entity_name": "MEOX1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:17.539469+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED25 was added\ngene: MED25 was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED25 were set to 25792360\nPhenotypes for gene: MED25 were set to BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME; BVSYS",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:17.407925+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED13L was added\ngene: MED13L was added to Clefting_GEL. Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MED13L were set to 25712080; 25137640\nPhenotypes for gene: MED13L were set to Mental retardation and distinctive facial features with or without cardiac defects, 616789; Cleft palate; MRFACD",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:17.215945+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMNA was added\ngene: LMNA was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMNA were set to RESTRICTIVE DERMOPATHY, LETHAL",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:17.030080+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDM1A was added\ngene: KDM1A was added to Clefting_GEL. Sources: Expert Review Amber,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KDM1A were set to 23020937; 24838796; 26656649\nPhenotypes for gene: KDM1A were set to Cleft palate,psychomotor retardation,distinctive facial features, 616728",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:16.850501+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT52 was added\ngene: IFT52 was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT52 were set to SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY; SRTD16",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:16.652523+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNB1 was added\ngene: GNB1 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GNB1 were set to 27108799\nPhenotypes for gene: GNB1 were set to Mental retardation, autosomal dominant 42, 616973",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:16.422243+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA3 was added\ngene: GATA3 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GATA3 were set to 10935639; 11389161; 28303854; 21834031; 19659764\nPhenotypes for gene: GATA3 were set to HDR syndrome; Barakat syndrome; Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:16.205870+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FTO was added\ngene: FTO was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FTO were set to 26378117; 19559399\nPhenotypes for gene: FTO were set to Growth retardation, developmental delay, facial dysmorphism, 612938; Lethal polymalformative syndrome, Boissel type",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:15.946236+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXP2 was added\ngene: FOXP2 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXP2 were set to 27734906; 15326624\nPhenotypes for gene: FOXP2 were set to Speech-language disorder-1, 602081",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:15.747151+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBXO11 was added\ngene: FBXO11 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FBXO11 were set to 17035249; 30057029; 30679813\nPhenotypes for gene: FBXO11 were set to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089; cleft lip",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:15.608052+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ESRP2 was added\ngene: ESRP2 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: ESRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ESRP2 were set to 29805042\nPhenotypes for gene: ESRP2 were set to cleft lip",
"entity_name": "ESRP2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:15.411119+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLX4 was added\ngene: DLX4 was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: DLX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DLX4 were set to 25954033\nPhenotypes for gene: DLX4 were set to nonsyndromic cleft/lip palate (CL/P); OFC15; OROFACIAL CLEFT 15; ?Orofacial cleft 15, 616788",
"entity_name": "DLX4",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:15.222867+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDX59 was added\ngene: DDX59 was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDX59 were set to OROFACIODIGITAL SYNDROME V; OFD5",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:15.041691+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDX3X was added\ngene: DDX3X was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: DDX3X 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: DDX3X were set to MRX102; MENTAL RETARDATION, X-LINKED 102",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:14.832689+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL9A2 was added\ngene: COL9A2 was added to Clefting_GEL. Sources: Expert Review Amber,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services\nMode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COL9A2 were set to 21671392\nPhenotypes for gene: COL9A2 were set to Stickler syndrome; Orofacial Clefting with skeletal features; ?Stickler syndrome type V, 614284; Cleft palate",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:14.619217+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDC45 was added\ngene: CDC45 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDC45 were set to 27374770\nPhenotypes for gene: CDC45 were set to Meier-Gorlin syndrome 7, 617063; MGORS7",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:14.422879+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BUB1B was added\ngene: BUB1B was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BUB1B were set to MVA1; MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:14.233160+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B4GALT7 was added\ngene: B4GALT7 was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B4GALT7 were set to 24755949\nPhenotypes for gene: B4GALT7 were set to EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES; EDSSLA",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:13.819141+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B3GALT6 was added\ngene: B3GALT6 was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: B3GALT6 was set to Unknown\nPhenotypes for gene: B3GALT6 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES; Ehlers-Danlos syndrome, progeroid type, 2 615349; SEMDJL1",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:13.629315+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATR was added\ngene: ATR was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: ATR was set to Unknown\nPhenotypes for gene: ATR were set to SECKEL SYNDROME 1; SCKL1",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:13.504443+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALX3 was added\ngene: ALX3 was added to Clefting_GEL. Sources: Expert Review Amber\nMode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALX3 were set to 19409524; 22106187; 19401770\nPhenotypes for gene: ALX3 were set to FND1; Frontorhiny; FRONTONASAL DYSPLASIA 1",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:13.325154+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALX1 was added\ngene: ALX1 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALX1 were set to 26610632; 20451171; 27324866\nPhenotypes for gene: ALX1 were set to ?Frontonasal dysplasia 3, 613456",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:13.118915+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZSWIM6 was added\ngene: ZSWIM6 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZSWIM6 were set to 25105228\nPhenotypes for gene: ZSWIM6 were set to AFND; ACROMELIC FRONTONASAL DYSOSTOSIS",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:12.934097+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZIC3 was added\ngene: ZIC3 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZIC3 were set to VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:12.807869+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZIC2 was added\ngene: ZIC2 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZIC2 were set to 19955556\nPhenotypes for gene: ZIC2 were set to HOLOPROSENCEPHALY 5; HPE5",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:12.622917+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZEB2 was added\ngene: ZEB2 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ZEB2 were set to MOWAT-WILSON SYNDROME; MOWS",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:12.432352+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XYLT1 was added\ngene: XYLT1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XYLT1 were set to DESBUQUOIS DYSPLASIA 2; DBQD2",
"entity_name": "XYLT1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:12.305948+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNT5A was added\ngene: WNT5A was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: WNT5A were set to DRS1; ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1",
"entity_name": "WNT5A",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:12.105906+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USP9X was added\ngene: USP9X was added to Clefting_GEL. Sources: Expert Review Green,Literature\nMode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: USP9X were set to 26833328\nPhenotypes for gene: USP9X were set to Mental retardation, X-linked 99 300919 XLR; Mental retardation, X-linked 99, syndromic, female-restricted 300968",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:11.912258+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TXNL4A was added\ngene: TXNL4A was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TXNL4A were set to 25434003\nPhenotypes for gene: TXNL4A were set to BURN-MCKEOWN SYNDROME; BMKS; Cleft palate",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:11.734414+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBB was added\ngene: TUBB was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TUBB were set to CSCSC1; SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:11.537588+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIM37 was added\ngene: TRIM37 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIM37 were set to MULIBREY NANISM",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:11.408097+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC9 was added\ngene: TRAPPC9 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC9 were set to 20004764\nPhenotypes for gene: TRAPPC9 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:11.239701+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TP63 was added\ngene: TP63 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TP63 were set to Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome, 129400; EEC3; Limb-mammary syndrome, 603543; AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Clefting), Hay Wells syndrome 106260; EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Clefting); ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; Cleft lip; Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3, 604292",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:11.017803+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMCO1 was added\ngene: TMCO1 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMCO1 were set to CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR; Cleft palate",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:10.832137+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGFBR2 was added\ngene: TGFBR2 was added to Clefting_GEL. Sources: Expert Review Green,Expert Review\nMode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TGFBR2 were set to 12975342; 15731757; 16928994\nPhenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome; Loeys-Dietz syndrome 2, 610168",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:10.634161+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGFBR1 was added\ngene: TGFBR1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TGFBR1 were set to LOEYS-DIETZ SYNDROME 1; LDS1",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:10.507921+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGFB3 was added\ngene: TGFB3 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TGFB3 were set to LDS5; LOEYS-DIETZ SYNDROME 5",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:10.323497+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGDS was added\ngene: TGDS was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: TGDS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TGDS were set to 25480037\nPhenotypes for gene: TGDS were set to CATEL-MANZKE SYNDROME; Cleft palate; CATMANS",
"entity_name": "TGDS",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:10.131498+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TFAP2A was added\ngene: TFAP2A was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TFAP2A were set to 10767004\nPhenotypes for gene: TFAP2A were set to BRANCHIOOCULOFACIAL SYNDROME; BOFS; Cleft lip",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:10.006062+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TELO2 was added\ngene: TELO2 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TELO2 were set to YHFS; YOU-HOOVER-FONG SYNDROME",
"entity_name": "TELO2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:09.818387+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCTN3 was added\ngene: TCTN3 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCTN3 were set to OFD4; OROFACIODIGITAL SYNDROME IV",
"entity_name": "TCTN3",
"entity_type": "gene"
}
]
}