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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1167",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1165",
"results": [
{
"created": "2021-10-24T17:58:08.867629+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO9A was added\ngene: MYO9A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYO9A were set to 27259756; 29462312; 26752647\nPhenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198; Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:08.260022+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO18B was added\ngene: MYO18B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYO18B were set to 27858739; 25748484; 27879346\nPhenotypes for gene: MYO18B were set to Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, MONDO:0014689; Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549",
"entity_name": "MYO18B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:07.849187+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYMK was added\ngene: MYMK was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYMK were set to 28681861\nPhenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome, MONDO:0009700; Carey-Fineman-Ziter syndrome, OMIM:254940",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:07.367104+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYLK was added\ngene: MYLK was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MYLK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYLK were set to 28602422\nPhenotypes for gene: MYLK were set to MMIH; Megacystis Microcolon Intestinal Hypoperistalsis Syndrome",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:06.749320+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYL9 was added\ngene: MYL9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MYL9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYL9 were set to 29453416; 33031641\nPhenotypes for gene: MYL9 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:06.265846+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYL1 was added\ngene: MYL1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYL1 were set to 30215711\nPhenotypes for gene: MYL1 were set to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414; Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:05.579508+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYH7 was added\ngene: MYH7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MYH7 were set to 22859017; 26337809; 25547560\nPhenotypes for gene: MYH7 were set to Cardiomyopathy, hypertrophic, 1, OMIM:192600; Laing early-onset distal myopathy, MONDO:0008050; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Dilated cardiomyopathy 1S, MONDO:0013262",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:05.158825+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYH2 was added\ngene: MYH2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MYH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MYH2 were set to 15548556; 11114175; 24193343; 23388406; 20418530; 23489661\nPhenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia, OMIM:605637; Myopathy, proximal, and ophthalmoplegia, MONDO:0011577",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:04.671483+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MSTO1 was added\ngene: MSTO1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MSTO1 were set to 28544275; 29339779; 31130378; 31604776; 28554942\nPhenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, OMIM:617675; Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:04.055016+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MSMO1 was added\ngene: MSMO1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MSMO1 were set to 21285510; 24144731\nPhenotypes for gene: MSMO1 were set to Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793; Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:03.568799+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRPS34 was added\ngene: MRPS34 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MRPS34 were set to Leigh Syndrome with Instability of the Small Mitoribosomal Subunit",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:02.951925+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRAS was added\ngene: MRAS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MRAS were set to 31108500; 28289718; 31173466\nPhenotypes for gene: MRAS were set to Noonan syndrome 11, MONDO:0032786; Noonan syndrome 11, OMIM:618499",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:02.479073+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MOGS was added\ngene: MOGS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOGS were set to Congenital disorder of glycosylation, type IIb, OMIM:606056; MOGS-CDG, MONDO:0011629",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:01.765835+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MN1 was added\ngene: MN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MN1 were set to 31834374; 31839203; 15870292\nPhenotypes for gene: MN1 were set to CEBALID syndrome, OMIM:618774; CEBALID syndrome, MONDO:0032908\nMode of pathogenicity for gene: MN1 was set to Other",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:01.350221+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MITF was added\ngene: MITF was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MITF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MITF were set to 27889061\nPhenotypes for gene: MITF were set to Tietz albinism-deafness syndrome, 103500; Waardenburg syndrome/ocular albinism, digenic, 103470; TIETZ SYNDROME; Waardenburg syndrome, type 2A, 193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; COMMAD syndrome, 617306; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:00.860182+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MIR17HG was added\ngene: MIR17HG was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MIR17HG were set to FEINGOLD SYNDROME",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:00.171896+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MESD was added\ngene: MESD was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MESD were set to 31564437\nPhenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, OMIM:618644; Osteogenesis imperfecta, type 20, MONDO:0032846",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:59.757418+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEOX1 was added\ngene: MEOX1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MEOX1 were set to Klippel-Feil syndrome 2, OMIM:214300; Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958",
"entity_name": "MEOX1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:59.064470+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEIS2 was added\ngene: MEIS2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MEIS2 were set to 30055086; 27225850; 25712757; 24678003; 30291340\nPhenotypes for gene: MEIS2 were set to Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970; Cleft palate, cardiac defects, and mental retardation, OMIM:600987",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:58.656917+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED17 was added\ngene: MED17 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MED17 were set to MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:57.968754+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED13L was added\ngene: MED13L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MED13L were set to INTELLECTUAL DISABILITY",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:57.564596+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MECR was added\ngene: MECR was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MECR were set to Childhood-Onset Dystonia and Optic Atrophy",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:57.155246+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MECOM was added\ngene: MECOM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MECOM were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:56.468169+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MDH2 was added\ngene: MDH2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MDH2 were set to Early-Onset Severe Encephalopathy",
"entity_name": "MDH2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:56.060039+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MBOAT7 was added\ngene: MBOAT7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MBOAT7 were set to Intellectual Disability Accompanied by Epilepsy and Autistic Features",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:55.364889+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAT1A was added\ngene: MAT1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAT1A were set to METHIONINE ADENOSYLTRANSFERASE DEFICIENCY",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:54.954710+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP3K7 was added\ngene: MAP3K7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome, OMIM:157800; Frontometaphyseal dysplasia 2, MONDO:0014935; Frontometaphyseal dysplasia 2, OMIM:617137; Cardiospondylocarpofacial syndrome, MONDO:0008005",
"entity_name": "MAP3K7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:54.470077+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP3K20 was added\ngene: MAP3K20 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAP3K20 were set to 26755636; 27816943\nPhenotypes for gene: MAP3K20 were set to Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816; Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695; Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760; Split-foot malformation with mesoaxial polydactyly, OMIM:616890",
"entity_name": "MAP3K20",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:53.864268+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MANBA was added\ngene: MANBA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MANBA were set to LYSOSOMAL BETA-MANNOSIDOSIS",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:53.456550+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAN1B1 was added\ngene: MAN1B1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAN1B1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION",
"entity_name": "MAN1B1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:52.763183+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAMLD1 was added\ngene: MAMLD1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MAMLD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MAMLD1 were set to X-LINKED HYPOSPADIAS TYPE 2",
"entity_name": "MAMLD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:52.358513+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MACF1 was added\ngene: MACF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MACF1 were set to 30471716\nPhenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MONDO:0032677; Lissencephaly 9 with complex brainstem malformation, OMIM:618325",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:51.947058+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRRC56 was added\ngene: LRRC56 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: LRRC56 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRRC56 were set to 30388400\nPhenotypes for gene: LRRC56 were set to Ciliary dyskinesia, primary, 39, OMIM:618254; Ciliary dyskinesia, primary, 39, MONDO:0032637",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:51.260274+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRIT3 was added\ngene: LRIT3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: LRIT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRIT3 were set to AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS",
"entity_name": "LRIT3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:50.852031+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRIG2 was added\ngene: LRIG2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRIG2 were set to UROFACIAL SYNDROME",
"entity_name": "LRIG2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:50.171473+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRBA was added\ngene: LRBA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRBA were set to CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:49.763786+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRAT was added\ngene: LRAT was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRAT were set to LEBER CONGENITAL AMAUROSIS",
"entity_name": "LRAT",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:49.155202+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LONP1 was added\ngene: LONP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LONP1 were set to CODAS syndrome, OMIM:600373; CODAS syndrome, MONDO:0010879",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:48.745323+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIPT2 was added\ngene: LIPT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIPT2 were set to Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:48.268160+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIPT1 was added\ngene: LIPT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIPT1 were set to Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.",
"entity_name": "LIPT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:47.655239+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIPN was added\ngene: LIPN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIPN were set to ICHTHYOSIS, LAMELLAR, 4",
"entity_name": "LIPN",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:47.248329+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LINS1 was added\ngene: LINS1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: LINS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LINS1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION",
"entity_name": "LINS1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:46.563354+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIAS was added\ngene: LIAS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIAS were set to Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:46.159791+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARS2 was added\ngene: LARS2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LARS2 were set to 32442335; 26537577\nPhenotypes for gene: LARS2 were set to Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:45.751543+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMB1 was added\ngene: LAMB1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMB1 were set to Cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077; Lissencephaly 5, OMIM:615191",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:45.072021+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT74 was added\ngene: KRT74 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: KRT74 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KRT74 were set to HYPOTRICHOSIS SIMPLEX OF THE SCALP 2",
"entity_name": "KRT74",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:44.654815+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KPTN was added\ngene: KPTN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KPTN were set to MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:43.964790+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KNL1 was added\ngene: KNL1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: KNL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KNL1 were set to 26626498; 26621532; 22983954\nPhenotypes for gene: KNL1 were set to Microcephaly 4, primary, autosomal recessive, OMIM:604321; Microcephaly 4, primary, autosomal recessive, MONDO:0011437",
"entity_name": "KNL1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:43.559752+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KMT2B was added\ngene: KMT2B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KMT2B were set to Complex early-onset dystonia",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:43.156772+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLHL7 was added\ngene: KLHL7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KLHL7 were set to PERCHING syndrome, MONDO:0014890; PERCHING syndrome, OMIM:617055",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:42.473200+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF5C was added\ngene: KIF5C was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: KIF5C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KIF5C were set to Cortical dysplasia, complex, with other brain malformations 2, OMIM:615282; Complex cortical dysplasia with other brain malformations 2, MONDO:0014116",
"entity_name": "KIF5C",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:42.067182+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF2A was added\ngene: KIF2A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: KIF2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KIF2A were set to Complex cortical dysplasia with other brain malformations 3, MONDO:0014170; Cortical dysplasia, complex, with other brain malformations 3, OMIM:615411",
"entity_name": "KIF2A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:41.455010+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF14 was added\ngene: KIF14 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF14 were set to 29343805; 24128419; 30388224; 28892560\nPhenotypes for gene: KIF14 were set to Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552; Microcephaly 20, primary, autosomal recessive, OMIM:617914; Meckel syndrome 12, OMIM:616258; Microcephaly 20, primary, autosomal recessive, MONDO:0054761",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:41.047013+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIDINS220 was added\ngene: KIDINS220 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIDINS220 were set to 33205811; 28934391; 22048169\nPhenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296; cerebral ventriculomegaly; limb contractures; spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:40.568158+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIAA0753 was added\ngene: KIAA0753 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0753 were set to 28220259; 29138412; 26643951\nPhenotypes for gene: KIAA0753 were set to Orofaciodigital syndrome XV, MONDO:0014932; ?Orofaciodigital syndrome XV, OMIM:617127",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:39.959387+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDM1A was added\ngene: KDM1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KDM1A were set to Developmental delay and distinctive facial features",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:39.553981+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNQ5 was added\ngene: KCNQ5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: KCNQ5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNQ5 were set to Intellectual Disability with or without Epileptic Encephalopathy",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:38.873778+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ8 was added\ngene: KCNJ8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNJ8 were set to 24700710; 25275207; 24176758\nPhenotypes for gene: KCNJ8 were set to Cantu syndrome\nMode of pathogenicity for gene: KCNJ8 was set to Other - please provide details in the comments",
"entity_name": "KCNJ8",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:38.467654+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ6 was added\ngene: KCNJ6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNJ6 were set to KEPPEN-LUBINSKY SYNDROME",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:37.856615+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNH1 was added\ngene: KCNH1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNH1 were set to TEMPLE BARRAISTER SYNDROME",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:37.451677+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNC3 was added\ngene: KCNC3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNC3 were set to SPINOCEREBELLAR ATAXIA TYPE 13",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:36.974689+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KATNB1 was added\ngene: KATNB1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KATNB1 were set to 25521379; 26640080; 25521378\nPhenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:36.366421+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAM3 was added\ngene: JAM3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JAM3 were set to HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS",
"entity_name": "JAM3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:35.964302+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGA8 was added\ngene: ITGA8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITGA8 were set to 24439109\nPhenotypes for gene: ITGA8 were set to Renal hypodysplasia/aplasia 1, OMIM:191830; Renal hypodysplasia/aplasia 1, MONDO:0024519",
"entity_name": "ITGA8",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:35.269001+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITCH was added\ngene: ITCH was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITCH were set to AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:34.858239+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IRX5 was added\ngene: IRX5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: IRX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IRX5 were set to HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:34.456512+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INPP5K was added\ngene: INPP5K was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability",
"entity_name": "INPP5K",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:33.845369+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGFBP7 was added\ngene: IGFBP7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGFBP7 were set to RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS",
"entity_name": "IGFBP7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:33.372562+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT81 was added\ngene: IFT81 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: IFT81 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT81 were set to 30080953; 26275418; 32783357; 27666822\nPhenotypes for gene: IFT81 were set to Short-rib thoracic dysplasia 19 with or without polydactyly, MONDO:0033485; Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895",
"entity_name": "IFT81",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:32.756175+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT52 was added\ngene: IFT52 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT52 were set to 27466190; 26880018; 31042281; 30242358\nPhenotypes for gene: IFT52 were set to Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102; Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:32.353398+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDH1 was added\ngene: IDH1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: IDH1 were set to 22057234; 22057236; 22025298; 24049096\nPhenotypes for gene: IDH1 were set to Maffucci syndrome 614569; Ollier disease/ Dyschondroplasia 166000; Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:31.946194+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ICK was added\ngene: ICK was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ICK were set to 24853502; 19185282; 27466187; 27069622\nPhenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:31.264482+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPD was added\ngene: HPD was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: HPD were set to TYROSINEMIA TYPE 3; HAWKINSINURIA",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:30.860004+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HOXB1 was added\ngene: HOXB1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: HOXB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HOXB1 were set to FACIAL PARESIS, HEREDITARY CONGENITAL, 3",
"entity_name": "HOXB1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:30.245220+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNRNPH2 was added\ngene: HNRNPH2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: HNRNPH2 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: HNRNPH2 were set to Neurodevelopmental Disorder in Females",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:29.771297+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HMX1 was added\ngene: HMX1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HMX1 were set to OCULOAURICULAR SYNDROME",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:29.367834+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HMGA2 was added\ngene: HMGA2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: HMGA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HMGA2 were set to 28796236; 29655892; 29453418; 25809938\nPhenotypes for gene: HMGA2 were set to Silver-Russell syndrome 5, OMIM:618908; Silver-Russell syndrome 5, MONDO:0020795",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:28.759725+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HIST1H4C was added\ngene: HIST1H4C was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: HIST1H4C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HIST1H4C were set to HIST1H4C",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:28.358441+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HIST1H1E was added\ngene: HIST1H1E was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: HIST1H1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HIST1H1E were set to Rahman syndrome, OMIM:617537; Rahman syndrome, MONDO:0044323",
"entity_name": "HIST1H1E",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:27.676544+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HGSNAT was added\ngene: HGSNAT was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HGSNAT were set to MUCOPOLYSACCHARIDOSIS TYPE 3C",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:27.270762+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HESX1 was added\ngene: HESX1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: HESX1 were set to Septooptic dysplasia, OMIM:182230; Septooptic dysplasia, MONDO:0008428",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:26.861626+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADHB was added\ngene: HADHB was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHB were set to Trifunctional protein deficiency, OMIM:609015; Mitochondrial trifunctional protein deficiency, MONDO:0012172",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:26.254445+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GZF1 was added\ngene: GZF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GZF1 were set to Joint laxity, short stature, and myopia, OMIM:617662; Joint laxity, short stature, and myopia, MONDO:0060556",
"entity_name": "GZF1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:25.846186+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GTF2E2 was added\ngene: GTF2E2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GTF2E2 were set to DNA Repair-Proficient Trichothiodystrophy",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:25.153829+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GSPT2 was added\ngene: GSPT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GSPT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GSPT2 were set to XL INTELLECTUAL DISABILITY",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:24.749144+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GSC was added\ngene: GSC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GSC were set to Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, MONDO:0011227; Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, OMIM:602471",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:24.272390+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRM1 was added\ngene: GRM1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GRM1 were set to CONGENITAL CEREBELLAR ATAXIA",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:23.668422+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRIN2D was added\ngene: GRIN2D was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GRIN2D were set to Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:23.268595+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRHL2 was added\ngene: GRHL2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GRHL2 were set to ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:22.658620+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GREB1L was added\ngene: GREB1L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GREB1L were set to 29261186; 32378186; 31974414; 31424080; 29100091\nPhenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, 617805; renal agenesis",
"entity_name": "GREB1L",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:22.258442+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPX4 was added\ngene: GPX4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPX4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE",
"entity_name": "GPX4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:21.856478+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPKOW was added\ngene: GPKOW was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GPKOW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GPKOW were set to 28612833\nPhenotypes for gene: GPKOW were set to male-lethal microcephaly with intrauterine growth restriction",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:21.245296+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPC6 was added\ngene: GPC6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPC6 were set to Omodysplasia 1, OMIM:258315; Autosomal recessive omodysplasia, MONDO:0009779",
"entity_name": "GPC6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:20.773285+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPAA1 was added\ngene: GPAA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPAA1 were set to Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:20.165483+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNB5 was added\ngene: GNB5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNB5 were set to Sinus Bradycardia and Cognitive Disability",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:19.757571+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAQ was added\ngene: GNAQ was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GNAQ were set to Congenital Hemangioma",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:19.356459+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAI1 was added\ngene: GNAI1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GNAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GNAI1 were set to GNAI1 syndrome",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:18.749943+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNA14 was added\ngene: GNA14 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GNA14 were set to Congenital vascular tumours",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:18.346168+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNA11 was added\ngene: GNA11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GNA11 were set to Congenital Hemangioma",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:57:17.668498+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GMNN was added\ngene: GMNN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GMNN were set to Meier-Gorlin syndrome 6, OMIM:616835; Meier-Gorlin syndrome 6, MONDO:0014794",
"entity_name": "GMNN",
"entity_type": "gene"
}
]
}