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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1585",
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"results": [
{
"created": "2020-09-16T18:00:09.642345+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCOF1 was added\ngene: TCOF1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TCOF1 were set to TREACHER COLLINS SYNDROME 1; TCS1",
"entity_name": "TCOF1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:09.511855+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX22 was added\ngene: TBX22 was added to Clefting_GEL. Sources: Expert Review Green,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services\nMode of inheritance for gene: TBX22 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: TBX22 were set to 19648124; 17846996; 21248356; 12374769; 11559848; 19648291; 22784330; 14729838\nPhenotypes for gene: TBX22 were set to Cleft palate with ankyloglossia, 303400; Cleft palate; CPX; cleft lip; palate; CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED; sub mucous cleft",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:09.314541+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAMBP was added\ngene: STAMBP was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STAMBP were set to MICCAP; MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:09.130924+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPECC1L was added\ngene: SPECC1L was added to Clefting_GEL. Sources: Expert Review Green,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SPECC1L were set to 8849002; 21703590; 25412741; 1897571\nPhenotypes for gene: SPECC1L were set to GBBB2; ?Facial clefting, oblique, 1, 600251; Opitz GBBB syndrome, type II (with clefting), 145410; OPITZ GBBB SYNDROME, TYPE II",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:08.945336+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOX9 was added\ngene: SOX9 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SOX9 were set to 7485151; 7990924; 24038782; 12783851; 19449405; 15806394; 8894698\nPhenotypes for gene: SOX9 were set to CAMPOMELIC DYSPLASIA,114290; Campomelic dysplasia with autosomal sex reversal, 114290; CAMPOMELIC DYSPLASIA; Cleft palate; Cleft palate with skeletal abnormalities; Orofacial Clefting with Skeletal Features; Acampomelic campomelic dysplasia, 114290",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:08.738174+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SON was added\ngene: SON was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SON were set to 27545680\nPhenotypes for gene: SON were set to ZTTK SYNDROME; ZTTKS",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:08.618691+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNRPB was added\ngene: SNRPB was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: SNRPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SNRPB were set to 25047197\nPhenotypes for gene: SNRPB were set to CEREBROCOSTOMANDIBULAR SYNDROME; CCMS; Cleft palate",
"entity_name": "SNRPB",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:08.430876+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMS was added\ngene: SMS was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SMS were set to MRXSSR; MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:08.307775+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMC3 was added\ngene: SMC3 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SMC3 were set to CORNELIA DE LANGE SYNDROME 3; CDLS3",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:08.126684+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMC1A was added\ngene: SMC1A was added to Clefting_GEL. Sources: Expert Review Green\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 CDLS2; CORNELIA DE LANGE SYNDROME 2",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:08.004505+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMAD4 was added\ngene: SMAD4 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SMAD4 were set to MYHRE SYNDROME; MYHRS",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:07.822754+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMAD3 was added\ngene: SMAD3 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SMAD3 were set to LOEYS-DIETZ SYNDROME 3; LDS3",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:07.647845+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC26A2 was added\ngene: SLC26A2 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC26A2 were set to 12866518; 25667404; 8931695; 8571951; 10465113; 18708426; 15316973; 11565064; 7923357\nPhenotypes for gene: SLC26A2 were set to De la Chapelle dysplasia (includes clefting), 256050; DIASTROPHIC DYSPLASIA; Diastrophic dysplasia (includes clefting), 222600; Atelosteogenesis II (includes clefting), 256050; DTD; Diastrophic dysplasia, broad bonehplatyspondylic variant, 222600; McAlister Dysplasia; Orofacial Clefting with skeletal features",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:07.505700+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SKI was added\ngene: SKI was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SKI were set to SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:07.324685+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIX5 was added\ngene: SIX5 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SIX5 were set to BOR2; BRANCHIOOTORENAL SYNDROME 2",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:07.141420+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIX3 was added\ngene: SIX3 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SIX3 were set to HOLOPROSENCEPHALY 2; HPE2",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:07.022031+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIX1 was added\ngene: SIX1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SIX1 were set to BOS3; BRANCHIOOTIC SYNDROME 3",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:06.841273+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHH was added\ngene: SHH was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SHH were set to HOLOPROSENCEPHALY 3; HPE3",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:06.718385+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SF3B4 was added\ngene: SF3B4 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SF3B4 were set to 22541558\nPhenotypes for gene: SF3B4 were set to ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:06.537515+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEPT9 was added\ngene: SEPT9 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SEPT9 were set to HNA; AMYOTROPHY, HEREDITARY NEURALGIC",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:06.421542+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCARF2 was added\ngene: SCARF2 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCARF2 were set to VDEGS; VAN DEN ENDE-GUPTA SYNDROME",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:06.243327+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SATB2 was added\ngene: SATB2 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services\nMode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SATB2 were set to 16179223\nPhenotypes for gene: SATB2 were set to Glass syndrome; GLASS SYNDROME; Cleft palate; GLASS; Cleft palate, intellectual disability, poor- absent speech, bone fragility- raised serum alkaline phosphatas; Chromosome 2q32-q33 deletion syndrome; Orofacial Clefting with skeletal features",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:06.042657+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SALL4 was added\ngene: SALL4 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SALL4 were set to DUANE-RADIAL RAY SYNDROME; DRRS",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:05.924660+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS26 was added\ngene: RPS26 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RPS26 were set to 20116044\nPhenotypes for gene: RPS26 were set to DBA10; DIAMOND-BLACKFAN ANEMIA 10; Cleft palate",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:05.739432+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL5 was added\ngene: RPL5 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RPL5 were set to 19061985\nPhenotypes for gene: RPL5 were set to DIAMOND-BLACKFAN ANEMIA 6; Cleft palate; DBA6",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:05.619214+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ROR2 was added\ngene: ROR2 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ROR2 were set to ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:05.432694+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBM10 was added\ngene: RBM10 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RBM10 were set to 20451169\nPhenotypes for gene: RBM10 were set to TARPS; Cleft palate; TARP SYNDROME",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:05.309103+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTCH1 was added\ngene: PTCH1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PTCH1 were set to HPE7; BCNS, HOLOPROSENCEPHALY 7; BASAL CELL NEVUS SYNDROME",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:05.131809+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PORCN was added\ngene: PORCN was added to Clefting_GEL. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Expert Review Green\nMode of inheritance for gene: PORCN 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: PORCN were set to 12071796; 21484999; 20301712; 10602117; 13948891; 18325042\nPhenotypes for gene: PORCN were set to GOLTZ SYNDROME; Focal dermal hypoplasia, 305600",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:04.939825+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR1D was added\ngene: POLR1D was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: POLR1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: POLR1D were set to TCS2; TREACHER COLLINS SYNDROME 2",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:04.818264+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR1C was added\ngene: POLR1C was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLR1C were set to TREACHER COLLINS SYNDROME 3; TCS3",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:04.640186+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGV was added\ngene: PIGV was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGV were set to 24129430; 21739589\nPhenotypes for gene: PIGV were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1",
"entity_name": "PIGV",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:04.521374+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGN was added\ngene: PIGN was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGN were set to 27038415; 24852103\nPhenotypes for gene: PIGN were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:04.405880+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIEZO2 was added\ngene: PIEZO2 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: PIEZO2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PIEZO2 were set to 24726473\nPhenotypes for gene: PIEZO2 were set to MWKS; DA3, MARDEN-WALKER SYNDROME; ARTHROGRYPOSIS, DISTAL, TYPE 3",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:04.227700+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHF8 was added\ngene: PHF8 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PHF8 were set to MRXSSD; SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; Cleft lip",
"entity_name": "PHF8",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:04.045432+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAX3 was added\ngene: PAX3 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PAX3 were set to WAARDENBURG",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:03.923175+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OFD1 was added\ngene: OFD1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: OFD1 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: OFD1 were set to OROFACIODIGITAL SYNDROME I; OFD1",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:03.805865+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOTCH1 was added\ngene: NOTCH1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NOTCH1 were set to ADAMS-OLIVER SYNDROME",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:03.632553+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NIPBL was added\ngene: NIPBL was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NIPBL were set to CDLS1; CORNELIA DE LANGE SYNDROME 1",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:03.515477+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEK1 was added\ngene: NEK1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEK1 were set to SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:03.334051+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEDD4L was added\ngene: NEDD4L was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services,Literature,Expert Review\nMode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NEDD4L were set to 27694961\nPhenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia 7 (includes clefting), 617201; Cleft palate; Cleft palate, toe syndactyly, periventricular nodular heterotopia",
"entity_name": "NEDD4L",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:03.138779+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NECTIN1 was added\ngene: NECTIN1 was added to Clefting_GEL. Sources: Expert Review Green,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services\nMode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NECTIN1 were set to 10932188; 26953873; 11559849\nPhenotypes for gene: NECTIN1 were set to Cleft Lip with or without Cleft Palate; CLP, partial syndactyly of digits, intellectual disability, dysmorphism; Orofacial cleft 7, 225060; Cleft lip/Palate ectodermal dysplasia syndrome, 225060; Ectodermal dysplasia, Margarita Island type; Cleft lip; Zlotogora-Ogur syndrome",
"entity_name": "NECTIN1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:02.953456+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYMK was added\ngene: MYMK was added to Clefting_GEL. Sources: Expert Review Green,Literature\nMode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYMK were set to 28681861\nPhenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome\t254940",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:02.814645+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MSX1 was added\ngene: MSX1 was added to Clefting_GEL. Sources: Expert Review Green,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services\nMode of inheritance for gene: MSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MSX1 were set to 16498076; 10742093; 27228008; 15264286; 12097313; 12807959; 25565750\nPhenotypes for gene: MSX1 were set to Tooth agenesis, selective, 1, with or without orofacial cleft, 106600; Orofacial cleft 5, 608874; Cleft lip; CLP with dental anomalies",
"entity_name": "MSX1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:02.626240+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MKS1 was added\ngene: MKS1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MKS1 were set to 24643152; 26037304; 25182137\nPhenotypes for gene: MKS1 were set to Meckel syndrome 1, 249000; Meckel-Gruber Syndrome (MGS); MKS1",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:02.508199+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MID1 was added\ngene: MID1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: MID1 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: MID1 were set to OPITZ GBBB SYNDROME, TYPE I; GBBB1",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:02.330156+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEIS2 was added\ngene: MEIS2 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services,Expert Review\nMode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MEIS2 were set to 25712757; 27225850; 24678003\nPhenotypes for gene: MEIS2 were set to intellectual disability; cardiac defects; Orofacial clefting; Cleft palate",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:02.131544+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MBTPS2 was added\ngene: MBTPS2 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MBTPS2 were set to IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:02.015055+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MASP1 was added\ngene: MASP1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MASP1 were set to 3MC1; 3MC SYNDROME 1",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:01.833473+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAPRE2 was added\ngene: MAPRE2 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: MAPRE2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MAPRE2 were set to SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2",
"entity_name": "MAPRE2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:01.710855+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP3K7 was added\ngene: MAP3K7 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAP3K7 were set to 28498505; 25899317\nPhenotypes for gene: MAP3K7 were set to AD-FMD; Frontometaphyseal dysplasia 2, 617137; autosomal dominant FMD; FMD2",
"entity_name": "MAP3K7",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:01.533874+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KMT2D was added\ngene: KMT2D was added to Clefting_GEL. Sources: Expert Review,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green,Literature\nMode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2D were set to 22126750; 20711175; 21671394; 26049589; 25142838\nPhenotypes for gene: KMT2D were set to Kabuki syndrome 1, 147920",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:01.334141+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF7 was added\ngene: KIF7 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF7 were set to 21552264\nPhenotypes for gene: KIF7 were set to ACLS; ACROCALLOSAL SYNDROME",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:01.221227+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF1BP was added\ngene: KIF1BP was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF1BP were set to 16760737; 7338549\nPhenotypes for gene: KIF1BP were set to GOSHS; Goldberg-Shprintzen megacolon syndrome, 609460",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:01.042402+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIAA0586 was added\ngene: KIAA0586 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIAA0586 were set to SRTD14; SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:00.929039+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDM6A was added\ngene: KDM6A was added to Clefting_GEL. Sources: Expert Review,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green\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)\nPublications for gene: KDM6A were set to 24664873; 22197486; 23076834\nPhenotypes for gene: KDM6A were set to Kabuki syndrome 2, 300867",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:00.734907+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ2 was added\ngene: KCNJ2 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNJ2 were set to 12163457\nPhenotypes for gene: KCNJ2 were set to ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Cleft palate",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:00.561306+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KAT6A was added\ngene: KAT6A was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KAT6A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 32; MRD32",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:00.434106+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IRF6 was added\ngene: IRF6 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: IRF6 were set to lip pits; Cleft palate; Orofacial cleft 6, 608864; VWS1, POPLITEAL PTERYGIUM SYNDROME; Cleft Lip with or without Cleft Palate; VAN DER WOUDE SYNDROME 1; PPS; Cleft lip +/- palate- unilateral or bilateral; Orofacial Clefting with skeletal features; cleft palate",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:00.280299+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IMPAD1 was added\ngene: IMPAD1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IMPAD1 were set to 22887726; 21549340\nPhenotypes for gene: IMPAD1 were set to Chondrodysplasia with joint dislocations, GPAPP type, 614078 (includes cleft palate)",
"entity_name": "IMPAD1",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:59.935988+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT80 was added\ngene: IFT80 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT80 were set to SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2",
"entity_name": "IFT80",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:59.825422+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT172 was added\ngene: IFT172 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT172 were set to SRTD10; SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:59.713149+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT140 was added\ngene: IFT140 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT140 were set to SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:59.539140+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ICK was added\ngene: ICK was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ICK were set to 19185282; 27069622; 24853502\nPhenotypes for gene: ICK were set to ECO; Endocrine-cerebroosteodysplasia, 612651 (includes cleft lip, cleft palate)",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:59.429627+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HYLS1 was added\ngene: HYLS1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HYLS1 were set to 3296755; 22029171; 8322817; 15843405\nPhenotypes for gene: HYLS1 were set to Hydrolethalus syndrome, 236680 (includes Cleft palate, Lateral or midline cleft lip, Lower lip cleft)",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:59.317213+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HDAC8 was added\ngene: HDAC8 was added to Clefting_GEL. Sources: Expert Review Green\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 CDLS5; CORNELIA DE LANGE SYNDROME 5",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:59.141890+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRHL3 was added\ngene: GRHL3 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: GRHL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GRHL3 were set to Cleft lip; VAN DER WOUDE SYNDROME 2",
"entity_name": "GRHL3",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:59.026402+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPC3 was added\ngene: GPC3 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: GPC3 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: GPC3 were set to SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:58.910664+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLI3 was added\ngene: GLI3 was added to Clefting_GEL. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GLI3 were set to 15739154; 24736735; 7211952; 20301638; 1605268\nPhenotypes for gene: GLI3 were set to Pallister-Hall syndrome, 146510",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:58.725973+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJA1 was added\ngene: GJA1 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Green\nMode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GJA1 were set to 1057461; 12457340; 19338053; 15108203\nPhenotypes for gene: GJA1 were set to Oculodentodigital dysplasia,164200; ODDD",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:58.543738+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRAS1 was added\ngene: FRAS1 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Green\nMode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FRAS1 were set to 17163535; 16894541; 18203166; 18671281\nPhenotypes for gene: FRAS1 were set to Fraser syndrome, 219000",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:58.422509+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXC2 was added\ngene: FOXC2 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FOXC2 were set to Cleft palate; LYMPHEDEMA-DISTICHIASIS SYNDROME",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:58.243726+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLNB was added\ngene: FLNB was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: FLNB were set to Spondylocarpotarsal synostosis syndrome (includes clefting), BIALLELIC, autosomal or pseudoautosomal, 272460; Atelosteogenesis, type I (includes clefting), MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 108720; Atelosteogenesis, type III MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown (includes clefting), 108721; Larsen syndrome (includes clefting) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 150250; Orofacial Clefting with skeletal features; Skeletal dysplasia with midline cleft palate",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:58.113365+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLNA was added\ngene: FLNA was added to Clefting_GEL. Sources: Expert Review Green,UKGTN\nMode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: FLNA were set to 10706363; 20301567; 12612583; 16538226\nPhenotypes for gene: FLNA were set to OTOPALATODIGITAL SYNDROME, TYPE I; Otopalatodigital syndrome, type II, 304120 (includes clefting); Orofacial Clefting with skeletal anomalies; OPD1, OTOPALATODIGITAL SYNDROME, TYPE II; OPD2, FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1; Melnick-Needles syndrome, 309350 (includes clefting); Otopalatodigital syndrome, type I, 311300 (includes clefting)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:57.934814+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGFR2 was added\ngene: FGFR2 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FGFR2 were set to APERT SYNDROME",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:57.819840+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGFR1 was added\ngene: FGFR1 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FGFR1 were set to 19504604; 25394172; 1342859; 16606836; 14564207; 12627230\nPhenotypes for gene: FGFR1 were set to Kallmann syndrome 2; Hartsfield syndrome, 615465; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:57.632121+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGD1 was added\ngene: FGD1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: FGD1 were set to 20082460\nPhenotypes for gene: FGD1 were set to AARSKOG-SCOTT SYNDROME; AAS",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:57.521248+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM20C was added\ngene: FAM20C was added to Clefting_GEL. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Expert Review Green\nMode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM20C were set to 2194867118000911; 2614802; 25974638; 17924334; 10482879\nPhenotypes for gene: FAM20C were set to Raine syndrome, 259775",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:57.338636+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EYA1 was added\ngene: EYA1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EYA1 were set to BOR1; BRANCHIOOTORENAL SYNDROME 1",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:57.233757+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ESCO2 was added\ngene: ESCO2 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ESCO2 were set to ROBERTS SYNDROME; RBS, SC PHOCOMELIA SYNDROME",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:57.123670+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPG5 was added\ngene: EPG5 was added to Clefting_GEL. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green\nMode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EPG5 were set to 23222957; 26927810; 20583151; 3344762; 17163544\nPhenotypes for gene: EPG5 were set to Vici syndrome, 242840",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:56.936957+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EOGT was added\ngene: EOGT was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EOGT were set to ADAMS-OLIVER SYNDROME",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:56.831691+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF4A3 was added\ngene: EIF4A3 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: EIF4A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIF4A3 were set to 10594883; 29112243; 29922329\nPhenotypes for gene: EIF4A3 were set to Richieri-Costa-Pereira syndrome; Robin sequence with cleft mandible and limb anomalies, 268305; Cleft palate",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:56.716556+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2S3 was added\ngene: EIF2S3 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: EIF2S3 were set to MRXSBRK; MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:56.607658+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EFTUD2 was added\ngene: EFTUD2 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: EFTUD2 were set to MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:56.437974+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EFNB1 was added\ngene: EFNB1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: EFNB1 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: EFNB1 were set to CRANIOFRONTONASAL SYNDROME; CFNS",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:56.329784+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EDNRA was added\ngene: EDNRA was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: EDNRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: EDNRA were set to MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA; MFDA; Cleft palate",
"entity_name": "EDNRA",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:56.214504+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EBP was added\ngene: EBP was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: EBP were set to MEND SYNDROME; MEND",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:56.104507+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DYNC2LI1 was added\ngene: DYNC2LI1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYNC2LI1 were set to SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:55.934020+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DYNC2H1 was added\ngene: DYNC2H1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYNC2H1 were set to SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:55.824975+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DVL3 was added\ngene: DVL3 was added to Clefting_GEL. Sources: Expert Review Green,Other\nMode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DVL3 were set to 26924530; 29575616\nPhenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3, 616894",
"entity_name": "DVL3",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:55.712691+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DVL1 was added\ngene: DVL1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DVL1 were set to DRS2; ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:55.544490+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOCK6 was added\ngene: DOCK6 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK6 were set to ADAMS-OLIVER SYNDROME",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:55.435243+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLL4 was added\ngene: DLL4 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DLL4 were set to ADAMS-OLIVER SYNDROME",
"entity_name": "DLL4",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:55.328123+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHODH was added\ngene: DHODH was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHODH were set to POADS = MILLER; POSTAXIAL ACROFACIAL DYSOSTOSIS",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:55.224954+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHCR7 was added\ngene: DHCR7 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHCR7 were set to SMITH-LEMLI-OPITZ SYNDROME; SLOS",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:55.110670+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTNND1 was added\ngene: CTNND1 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CTNND1 were set to 28301459\nPhenotypes for gene: CTNND1 were set to BLEPHAROCHEILODONTIC; Cleft palate",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:54.935974+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTCF was added\ngene: CTCF was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CTCF were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:54.828142+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COLEC11 was added\ngene: COLEC11 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COLEC11 were set to 3MC2; 3MC SYNDROME 2",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2020-09-16T17:59:54.726339+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COLEC10 was added\ngene: COLEC10 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: COLEC10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COLEC10 were set to 21258343\nPhenotypes for gene: COLEC10 were set to 3MC SYNDROME 3; 3MC3",
"entity_name": "COLEC10",
"entity_type": "gene"
}
]
}