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"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=765",
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"results": [
{
"created": "2022-09-19T07:25:35.407166+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GAMT was added\ngene: GAMT was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2, MIM#\t612736",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:35.199357+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALT was added\ngene: GALT was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALT were set to Galactosaemia, MIM#230400",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:34.993548+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALNS was added\ngene: GALNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:34.514032+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALK1 was added\ngene: GALK1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts, MIM#230200",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:34.307745+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALE was added\ngene: GALE was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALE were set to Galactose epimerase deficiency\t, MIM#230350",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:34.113890+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALC was added\ngene: GALC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALC were set to Krabbe disease",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:33.905047+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GAA was added\ngene: GAA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAA were set to Glycogen storage disease II, MIM#232300",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:33.711987+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: G6PD was added\ngene: G6PD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: G6PD were set to Glucose-6-phosphate dehydrogenase deficiency, MIM#300908",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:33.500197+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: G6PC3 was added\ngene: G6PC3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: G6PC3 were set to Neutropaenia, congenital, MIM#612541",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:33.296653+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: G6PC was added\ngene: G6PC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: G6PC were set to Glycogen storage disease Ia, MIM#232200",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:33.095539+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FXN was added\ngene: FXN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FXN were set to Friedreich ataxia",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:32.894455+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FUCA1 was added\ngene: FUCA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FUCA1 were set to Fucosidosis",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:32.698359+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FTL was added\ngene: FTL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FTL were set to Neuroferritinopathy",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:32.497906+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRAS1 was added\ngene: FRAS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FRAS1 were set to Fraser syndrome",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:32.293487+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXP3 was added\ngene: FOXP3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FOXP3 were set to IPEX syndrome, MIM#304790",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:32.023986+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXN1 was added\ngene: FOXN1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: FOXN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy\t, MIM#601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, MIM#\t618806",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:31.831101+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXI1 was added\ngene: FOXI1 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FOXI1 were set to sensorineural deafness and distal renal tubular acidosis",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:31.402503+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXF1 was added\ngene: FOXF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:31.205167+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXC2 was added\ngene: FOXC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FOXC2 were set to Lymphoedema, primary",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:31.002580+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXC1 was added\ngene: FOXC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FOXC1 were set to Axenfeld-Rieger syndrome",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:30.805059+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXA2 was added\ngene: FOXA2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: FOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: FOXA2 were set to Combined pituitary hormone deficiencies, genetic forms, ORPHA:95494; Congenital isolated hyperinsulinism, ORPHA:657",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:30.612952+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLNA was added\ngene: FLNA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FLNA were set to Otopalatodigital spectrum disorder",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:30.423217+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLCN was added\ngene: FLCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:30.207270+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLAD1 was added\ngene: FLAD1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM#\t255100",
"entity_name": "FLAD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:29.996048+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FKTN was added\ngene: FKTN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKTN were set to Muscular dystrophy, Fukuyama; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:29.792343+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FKRP was added\ngene: FKRP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKRP were set to Muscle-eye-brain disease; Muscular dystrophy, limb girdle 2I",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:29.590902+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FH was added\ngene: FH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FH were set to Fumurase deficiency MIM# 606812",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:29.348151+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGG was added\ngene: FGG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGG were set to Afibrinogenaemia",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:29.139574+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGFR3 was added\ngene: FGFR3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FGFR3 were set to Muenke syndrome; Thanatophoric dysplasia type 1; Crouzon syndrome with acanthosis nigricans; LADD syndrome; Hypochondroplasia; Achondroplasia; CATSHL syndrome",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:28.966036+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGFR2 was added\ngene: FGFR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FGFR2 were set to Jackson-Weiss syndrome; Apert syndrome; Crouzon syndrome; Pfeiffer syndrome; Beare-Stevenson cutis gyrata syndrome",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:28.609641+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGFR1 was added\ngene: FGFR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FGFR1 were set to Kallmann syndrome",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:28.417063+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGF3 was added\ngene: FGF3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGF3 were set to Deafness, congenital with inner ear agenesis, microtia, and microdontia",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:28.206101+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGD4 was added\ngene: FGD4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease",
"entity_name": "FGD4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:28.006685+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGD1 was added\ngene: FGD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FGD1 were set to Aarskog-Scott syndrome",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:27.702458+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGB was added\ngene: FGB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGB were set to Afibrinogenaemia",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:27.500246+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGA was added\ngene: FGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGA were set to Afibrinogenaemia",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:27.098658+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FERMT3 was added\ngene: FERMT3 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, MIM#\t612840",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:26.901093+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBP1 was added\ngene: FBP1 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green\nMode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency MIM# 229700",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:26.709347+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBN2 was added\ngene: FBN2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: FBN2 were set to 33571691\nPhenotypes for gene: FBN2 were set to Contractural arachnodactyly, congenital MIM#121050",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:26.500933+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBN1 was added\ngene: FBN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FBN1 were set to Marfan's syndrome; Weill-Marchesani syndrome 2, dominant; Shprintzen-Goldberg syndrome",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:26.294329+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAS was added\ngene: FAS was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: FAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: FAS were set to Autoimmune lymphoproliferative syndrome, type IA, MIM#\t601859",
"entity_name": "FAS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:26.094489+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCL was added\ngene: FANCL was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCL were set to Fanconi anaemia, MIM#614083",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:25.893863+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCI was added\ngene: FANCI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCI were set to Fanconi anaemia, MIM#609053",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:25.693916+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCG was added\ngene: FANCG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCG were set to Fanconi anaemia, MIM#614082",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:25.493353+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCF was added\ngene: FANCF was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCF were set to Fanconi anaemia, MIM#603467",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:25.295478+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCE was added\ngene: FANCE was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCE were set to Fanconi anaemia, MIM#600901",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:25.088936+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCD2 was added\ngene: FANCD2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCD2 were set to Fanconi anaemia, MIM#227646",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:24.815322+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCC was added\ngene: FANCC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCC were set to Fanconi anaemia, MIM#227645",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:24.638849+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCB was added\ngene: FANCB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FANCB were set to Fanconi anaemia, MIM#300514",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:24.418096+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCA was added\ngene: FANCA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCA were set to Fanconi anaemia, MIM#227650",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:24.006162+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM58A was added\ngene: FAM58A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FAM58A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FAM58A were set to Syndactyly - telecanthus - anogenital and renal malformations",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:23.814669+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM20C was added\ngene: FAM20C was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM20C were set to Osteosclerotic bone dysplasia",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:23.621406+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM161A was added\ngene: FAM161A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM161A were set to Retinal dystrophy",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:23.422222+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM126A was added\ngene: FAM126A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM126A were set to Hypomyelination and congenital cataract",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:23.220667+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAH was added\ngene: FAH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAH were set to Tyrosinaemia, type I, MIM#276700",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:23.029926+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F9 was added\ngene: F9 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: F9 were set to Haemophilia B, MIM#306900",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:22.857351+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F8 was added\ngene: F8 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: F8 were set to Haemophilia A, MIM#306700",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:22.620015+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F7 was added\ngene: F7 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F7 were set to Factor VII deficiency MIM# 227500",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:22.412942+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F5 was added\ngene: F5 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: F5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: F5 were set to Factor V deficiency MIM# 227400; Thrombophilia due to activated protein C resistance MIM# 188055",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:22.209125+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F2 was added\ngene: F2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F2 were set to Prothrombin deficiency, MIM#613679",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:22.024899+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F13B was added\ngene: F13B was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F13B were set to Factor XIIIB deficiency, MIM#\t613235",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:21.812845+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F13A1 was added\ngene: F13A1 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green\nMode of inheritance for gene: F13A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F13A1 were set to Factor XIIIA deficiency, MIM#\t613225",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:21.636130+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F11 was added\ngene: F11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: F11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F11 were set to Factor XI deficiency",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:21.421318+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F10 was added\ngene: F10 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: F10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F10 were set to Factor X deficiency, MIM#\t227600",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:21.210575+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EZH2 was added\ngene: EZH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EZH2 were set to Weaver syndrome 2",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:20.794237+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EYA4 was added\ngene: EYA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EYA4 were set to Deafness, autosomal dominant",
"entity_name": "EYA4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:20.600287+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EYA1 was added\ngene: EYA1 was added to gNBS. Sources: BabySeq Category A gene,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 Branchiootorenal syndrome",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:20.396080+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXT2 was added\ngene: EXT2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EXT2 were set to Exostoses, multiple, type 2",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:20.199499+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXT1 was added\ngene: EXT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EXT1 were set to Exostoses, multiple, type 1",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:20.005884+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EVC2 was added\ngene: EVC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:19.805021+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EVC was added\ngene: EVC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EVC were set to Ellis-van Creveld syndrome",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:19.612629+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETHE1 was added\ngene: ETHE1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, MIM#602473",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:19.430427+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETFDH was added\ngene: ETFDH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFDH were set to Glutaric acidemia IIC, MIM#231680",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:19.222854+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETFB was added\ngene: ETFB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFB were set to Glutaric acidemia IIB, MIM#231680",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:19.087653+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETFA was added\ngene: ETFA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFA were set to Glutaric acidaemia IIA, MIM#231680",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:18.892711+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ESRRB was added\ngene: ESRRB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ESRRB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ESRRB were set to Hearing loss",
"entity_name": "ESRRB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:18.693532+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ESPN was added\ngene: ESPN was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: ESPN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ESPN were set to 26445815; 28281779; 10975527; 18973245; 15930085; 15286153\nPhenotypes for gene: ESPN were set to Deafness, autosomal recessive 36, MIM# 609006",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:18.497475+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ESCO2 was added\ngene: ESCO2 was added to gNBS. Sources: BabySeq Category A gene,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",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:18.302680+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC8 was added\ngene: ERCC8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC8 were set to Cockayne syndrome",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:18.106011+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC6 was added\ngene: ERCC6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC6 were set to Cockayne syndrome",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:17.911990+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC5 was added\ngene: ERCC5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC5 were set to Xeroderma pigmentosum",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:17.703441+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC4 was added\ngene: ERCC4 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC4 were set to Xeroderma pigmentosum, group F, MIM#\t278760; Fanconi anaemia, complementation group Q, MIM#\t615272",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:17.505055+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC2 was added\ngene: ERCC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC2 were set to Xeroderma pigmentosum",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:17.106476+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPS8L2 was added\ngene: EPS8L2 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EPS8L2 were set to Deafness, MIM#617637",
"entity_name": "EPS8L2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:16.905001+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPS8 was added\ngene: EPS8 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: EPS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EPS8 were set to deafness MIM#600205",
"entity_name": "EPS8",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:16.711707+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPM2A was added\ngene: EPM2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora)",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:16.523272+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ENPP1 was added\ngene: ENPP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ENPP1 were set to Arterial calcification, generalized, of infancy, 1",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:16.388995+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ENG was added\ngene: ENG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:16.190077+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EMD was added\ngene: EMD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: EMD were set to Muscular dystrophy, Emery-Dreifuss",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:15.990273+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELP1 was added\ngene: ELP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ELP1 were set to Dysautonomia, familial",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:15.795547+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELN was added\ngene: ELN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ELN were set to Supravalvar aortic stenosis",
"entity_name": "ELN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:15.602602+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELANE was added\ngene: ELANE was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ELANE were set to Neutropenia, congenital, MIM#202700",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:15.418906+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2AK3 was added\ngene: EIF2AK3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome, MIM#226980",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:15.213665+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EGR2 was added\ngene: EGR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: EGR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EGR2 were set to Charcot-Marie-Tooth disease",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:15.023221+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EFTUD2 was added\ngene: EFTUD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis with microcephaly",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:14.802478+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EFL1 was added\ngene: EFL1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM#\t617941",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:14.602510+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EDNRB was added\ngene: EDNRB was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: EDNRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: EDNRB were set to Waardenburg syndrome, type 4A, MIM# 277580",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:14.398052+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EDN3 was added\ngene: EDN3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: EDN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EDN3 were set to Waardenburg syndrome",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:14.201873+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EDARADD was added\ngene: EDARADD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: EDARADD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EDARADD were set to Ectodermal dysplasia, hypohidrotic",
"entity_name": "EDARADD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:14.026148+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EDAR was added\ngene: EDAR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EDAR were set to Ectodermal dysplasia, hypohidrotic",
"entity_name": "EDAR",
"entity_type": "gene"
}
]
}