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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1175",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1173",
"results": [
{
"created": "2021-10-24T17:52:55.068361+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INPP5E was added\ngene: INPP5E was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INPP5E were set to MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS; JOUBERT SYNDROME TYPE 1",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:54.858758+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IMPAD1 was added\ngene: IMPAD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IMPAD1 were set to CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE",
"entity_name": "IMPAD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:54.655528+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL1RAPL1 was added\ngene: IL1RAPL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IL1RAPL1 were set to MENTAL RETARDATION X-LINKED TYPE 21",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:54.449368+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL11RA was added\ngene: IL11RA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL11RA were set to Crouzon-like craniosynostosis; Autosomal Recessive Craniosynostosis; Craniosynostosis and dental anomalies, 614188",
"entity_name": "IL11RA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:54.179094+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IKBKG was added\ngene: IKBKG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IKBKG 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: IKBKG were set to ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA; SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1; ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED; INCONTINENTIA PIGMENTI; IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:53.969498+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IHH was added\ngene: IHH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: IHH were set to ACROCAPITOFEMORAL DYSPLASIA; BRACHYDACTYLY, TYPE A1",
"entity_name": "IHH",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:53.763948+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGHMBP2 was added\ngene: IGHMBP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGHMBP2 were set to SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:53.356433+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGF2 was added\ngene: IGF2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPhenotypes for gene: IGF2 were set to BECKWITH-WIEDEMANN SYNDROME; CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:53.148481+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGF1R was added\ngene: IGF1R was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: IGF1R were set to INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:52.878630+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGF1 was added\ngene: IGF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGF1 were set to INSULIN-LIKE GROWTH FACTOR I DEFICIENCY",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:52.664544+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT80 was added\ngene: IFT80 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT80 were set to ASPHYXIATING THORACIC DYSTROPHY 2",
"entity_name": "IFT80",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:52.464128+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT43 was added\ngene: IFT43 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT43 were set to CRANIOECTODERMAL DYSPLASIA TYPE 3",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:52.256741+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT172 was added\ngene: IFT172 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT172 were set to JEUNE SYNDROME; MAINZER-SALDINO SYNDROME",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:52.053653+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT140 was added\ngene: IFT140 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT140 were set to MAINZER-SALDINO SYNDROME",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:51.846207+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT122 was added\ngene: IFT122 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT122 were set to CRANIOECTODERMAL DYSPLASIA",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:51.569232+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFITM5 was added\ngene: IFITM5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: IFITM5 were set to OSTEOGENESIS IMPERFECTA TYPE V",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:51.169149+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFIH1 was added\ngene: IFIH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: IFIH1 were set to 25542954\nPhenotypes for gene: IFIH1 were set to SINGLETON-MERTEN SYNDROME; Singleton-Merten syndrome 1, 182250; Aicardi-Goutieres syndrome 7, 615846; AICARDI-GOUTIERES SYNDROME 7\nMode of pathogenicity for gene: IFIH1 was set to Other",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:50.949501+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IER3IP1 was added\ngene: IER3IP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome 614231",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:50.676755+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDUA was added\ngene: IDUA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IDUA were set to MUCOPOLYSACCHARIDOSIS TYPE 1H; MUCOPOLYSACCHARIDOSIS TYPE 1H/S; MUCOPOLYSACCHARIDOSIS TYPE 1S",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:50.468163+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDS was added\ngene: IDS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IDS were set to MUCOPOLYSACCHARIDOSIS TYPE 2",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:50.267282+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IARS was added\ngene: IARS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IARS were set to 27426735\nPhenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:50.074599+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HYLS1 was added\ngene: HYLS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HYLS1 were set to HYDROLETHALUS SYNDROME TYPE 1",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:49.857593+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HUWE1 was added\ngene: HUWE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HUWE1 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:49.655248+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSPG2 was added\ngene: HSPG2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome, MONDO:0009717; Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140; Schwartz-Jampel syndrome, type 1, OMIM:255800; Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:49.450028+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSPD1 was added\ngene: HSPD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSPD1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 4",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:48.970332+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSF4 was added\ngene: HSF4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HSF4 were set to CATARACT ZONULAR HSF4-RELATED; CATARACT MARNER TYPE",
"entity_name": "HSF4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:48.763217+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD17B4 was added\ngene: HSD17B4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD17B4 were set to PERRAULT SYNDROME; D-BIFUNCTIONAL PROTEIN DEFICIENCY",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:48.573531+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD17B3 was added\ngene: HSD17B3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia 264300",
"entity_name": "HSD17B3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:48.358587+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HRAS was added\ngene: HRAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HRAS were set to 28425981\nPhenotypes for gene: HRAS were set to CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES; COSTELLO SYNDROME",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:48.156393+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HR was added\ngene: HR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HR were set to ATRICHIA WITH PAPULAR LESIONS; ALOPECIA UNIVERSALIS",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:47.953854+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPSE2 was added\ngene: HPSE2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPSE2 were set to UROFACIAL SYNDROME",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:47.750538+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HOXD13 was added\ngene: HOXD13 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HOXD13 were set to SYNDACTYLY TYPE 5; BRACHYDACTYLY-SYNDACTYLY SYNDROME; SYNPOLYDACTYLY 1; VACTERL ASSOCIATION; BRACHYDACTYLY TYPE D; BRACHYDACTYLY TYPE E",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:47.480335+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HOXA13 was added\ngene: HOXA13 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HOXA13 were set to HAND-FOOT-GENITAL SYNDROME",
"entity_name": "HOXA13",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:47.280005+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HOXA1 was added\ngene: HOXA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HOXA1 were set to BOSLEY-SALIH-ALORAINY SYNDROME; ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:47.085089+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNRNPK was added\ngene: HNRNPK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HNRNPK were set to 30998304; 26173930; 29904177; 26954065; 28771707\nPhenotypes for gene: HNRNPK were set to Au-Kline syndrome, 616580",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:46.661889+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNF4A was added\ngene: HNF4A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HNF4A were set to HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1; ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:46.459737+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNF1B was added\ngene: HNF1B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HNF1B were set to RENAL CYSTS AND DIABETES SYNDROME",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:46.256661+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HIVEP2 was added\ngene: HIVEP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HIVEP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HIVEP2 were set to HIVEP2 associated syndromic developmental delay with intellectual disability",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:46.054017+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HIBCH was added\ngene: HIBCH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HIBCH were set to HIBCH DEFICIENCY",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:45.852101+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HES7 was added\ngene: HES7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HES7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HES7 were set to Spondylocostal dysostosis 4, autosomal recessive 613686",
"entity_name": "HES7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:45.647581+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HDAC8 was added\ngene: HDAC8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: HDAC8 were set to WILSON-TURNER SYNDROME; CORNELIA DE LANGE-LIKE SYNDROME",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:45.446222+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HCFC1 was added\ngene: HCFC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HCFC1 were set to COBALAMIN DISORDER; MENTAL RETARDATION, X-LINKED 3",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:45.178046+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HCCS was added\ngene: HCCS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HCCS 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: HCCS were set to 30266093\nPhenotypes for gene: HCCS were set to MICROPHTHALMIA SYNDROMIC TYPE 7",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:44.973465+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HBA2 was added\ngene: HBA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HBA2 were set to Thalassemia, alpha-, 604131; Fetal hydrops",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:44.563681+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HBA1 was added\ngene: HBA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HBA1 were set to Thalassemia, alpha-, 604131; Fetal hydrops",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:44.364464+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADHA was added\ngene: HADHA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHA were set to LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:44.158935+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HAAO was added\ngene: HAAO was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HAAO were set to 28792876\nPhenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1 617660",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:43.956459+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GUSB was added\ngene: GUSB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GUSB were set to MUCOPOLYSACCHARIDOSIS TYPE 7",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:43.756357+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GUCY2C was added\ngene: GUCY2C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GUCY2C was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GUCY2C were set to MECONIUM ILEUS; FAMILIAL DIARRHEA DIARRHEA 6",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:43.557093+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GTPBP3 was added\ngene: GTPBP3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GTPBP3 were set to MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:43.355319+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GTF2H5 was added\ngene: GTF2H5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GTF2H5 were set to TRICHOTHIODYSTROPHY PHOTOSENSITIVE",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:43.154077+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRIP1 was added\ngene: GRIP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GRIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRIP1 were set to 22510445\nPhenotypes for gene: GRIP1 were set to Fraser syndrome 219000",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:42.952717+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRIN2B was added\ngene: GRIN2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GRIN2B were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; AUTISM; EPILEPTIC ENCEPHALOPATHY",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:42.748201+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRIN1 was added\ngene: GRIN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GRIN1 were set to intellectual disability, autosomal dominant 8 MONDO:0013655; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820; neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:42.277508+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRHL3 was added\ngene: GRHL3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GRHL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GRHL3 were set to VAN DER WOUDE SYNDROME",
"entity_name": "GRHL3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:42.073375+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPSM2 was added\ngene: GPSM2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPSM2 were set to CHUDLEY-MCCULLOUGH SYNDROME",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:41.869010+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPI was added\ngene: GPI was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GPI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPI were set to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 613470",
"entity_name": "GPI",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:41.670574+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPC3 was added\ngene: GPC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GPC3 were set to SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:41.475984+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GORAB was added\ngene: GORAB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GORAB were set to Geroderma osteodysplasticum",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:41.264179+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNS was added\ngene: GNS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNS were set to MUCOPOLYSACCHARIDOSIS TYPE 3D",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:41.075920+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNPTG was added\ngene: GNPTG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPTG were set to MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:40.857676+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNPTAB was added\ngene: GNPTAB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPTAB were set to MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A; MUCOLIPIDOSIS TYPE II",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:40.657855+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNPAT was added\ngene: GNPAT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPAT were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:40.253889+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNB1 was added\ngene: GNB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GNB1 were set to Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:40.052435+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAS was added\ngene: GNAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GNAS were set to ALBRIGHT HEREDITARY OSTEODYSTROPHY; GNAS HYPERFUNCTION; PSEUDOHYPOPARATHYROIDISM TYPE 1B; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:39.852211+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAO1 was added\ngene: GNAO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GNAO1 were set to EPILEPTIC ENCEPHALOPATHY",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:39.649052+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAI3 was added\ngene: GNAI3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GNAI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GNAI3 were set to AURICULOCONDYLAR SYNDROME",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:39.448897+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GMPPB was added\ngene: GMPPB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GMPPB were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:39.247121+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLUL was added\ngene: GLUL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLUL were set to CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:39.046243+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLIS3 was added\ngene: GLIS3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLIS3 were set to DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:38.846170+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLI3 was added\ngene: GLI3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GLI3 were set to GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; PALLISTER-HALL SYNDROME; POSTAXIAL POLYDACTYLY TYPE A; PREAXIAL POLYDACTYLY TYPE IV",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:38.572888+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLI2 was added\ngene: GLI2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GLI2 were set to GLI2-RELATED HOLOPROSENCEPHALY",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:38.179860+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLE1 was added\ngene: GLE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLE1 were set to ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:37.978325+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLDN was added\ngene: GLDN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLDN were set to Lethal arthroogryposis",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:37.768655+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLDC was added\ngene: GLDC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLDC were set to GLDC-RELATED GLYCINE ENCEPHALOPATHY",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:37.570863+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLB1 was added\ngene: GLB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLB1 were set to GM1-GANGLIOSIDOSIS TYPE 1; GM1-GANGLIOSIDOSIS TYPE 2; GM1-GANGLIOSIDOSIS TYPE 3; MUCOPOLYSACCHARIDOSIS TYPE 4B",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:37.372538+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLA was added\ngene: GLA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLA 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: GLA were set to Fabry disease, 301500",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:37.171973+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJC2 was added\ngene: GJC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GJC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GJC2 were set to LYMPHEDEMA, HEREDITARY, IC; SPASTIC PARAPLEGIA, 44; LEUKODYSTROPHY, HYPOMYELINATING, 2",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:36.971917+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJA8 was added\ngene: GJA8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GJA8 were set to CATARACT ZONULAR PULVERULENT TYPE 1; CATARACT-MICROCORNEA SYNDROME",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:36.776908+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJA3 was added\ngene: GJA3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GJA3 were set to CATARACT ZONULAR PULVERULENT CATARACT TYPE 3",
"entity_name": "GJA3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:36.571673+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJA1 was added\ngene: GJA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GJA1 were set to AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA; HALLERMANN-STREIFF SYNDROME; HYPOPLASTIC LEFT HEART SYNDROME; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:36.169395+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GFM1 was added\ngene: GFM1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GFM1 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:35.968261+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GFAP was added\ngene: GFAP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GFAP were set to ALEXANDER DISEASE",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:35.767362+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDF6 was added\ngene: GDF6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GDF6 were set to 32737436\nPhenotypes for gene: GDF6 were set to KLIPPEL-FEIL SYNDROME TYPE 1; MICROPHTHALMIA ISOLATED TYPE 4; Syndromic CAKUT",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:35.571864+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDF5 was added\ngene: GDF5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GDF5 were set to MULTIPLE SYNOSTOSES SYNDROME TYPE 2; ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE; BRACHYDACTYLY TYPE A1; SYMPHALANGISM PROXIMAL SYNDROME; DU PAN SYNDROME; BRACHYDACTYLY TYPE C; ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE; BRACHYDACTYLY TYPE A2",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:35.368888+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDF1 was added\ngene: GDF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GDF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GDF1 were set to 17924340; PMID: 20413652; 28991257\nPhenotypes for gene: GDF1 were set to Right atrial isomerism (Ivemark); Congenital heart defects, multiple types",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:35.171392+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GCDH was added\ngene: GCDH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCDH were set to GLUTARICACIDEMIA TYPE 1",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:34.976128+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GBE1 was added\ngene: GBE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GBE1 were set to 21620786\nPhenotypes for gene: GBE1 were set to Fetal akinesia deformation sequence; Glycogen storage disease IV, OMIM:232500",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:34.778312+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GBA2 was added\ngene: GBA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBA2 were set to AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:34.647042+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GBA was added\ngene: GBA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GBA were set to 30712880\nPhenotypes for gene: GBA were set to GAUCHER DISEASE TYPE 1; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:34.449777+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA6 was added\ngene: GATA6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GATA6 were set to ATRIOVENTRICULAR SEPTAL DEFECT 5; PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS; ATRIAL SEPTAL DEFECT 9",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:34.251782+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA4 was added\ngene: GATA4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GATA4 were set to ATRIAL SEPTAL DEFECT TYPE 2",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:33.846273+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA2 was added\ngene: GATA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GATA2 were set to EMBERGER SYNDROME",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:33.653211+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALNS was added\ngene: GALNS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALNS were set to MUCOPOLYSACCHARIDOSIS TYPE 4A",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:33.451769+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALK1 was added\ngene: GALK1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALK1 were set to GALACTOSEMIA II",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:33.256051+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALE was added\ngene: GALE was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALE were set to EPIMERASE-DEFICIENCY GALACTOSEMIA",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:33.057397+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALC was added\ngene: GALC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALC were set to Krabbe disease, OMIM:245200",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:32.858013+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GAA was added\ngene: GAA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAA were set to GLYCOGEN STORAGE DISEASE TYPE II",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:32.662987+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: G6PC3 was added\ngene: G6PC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: G6PC3 were set to Dursun syndrome; Neutropenia, severe congenital 4, autosomal recessive",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:32.467434+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FYCO1 was added\ngene: FYCO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FYCO1 were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2",
"entity_name": "FYCO1",
"entity_type": "gene"
}
]
}