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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1173",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1171",
"results": [
{
"created": "2021-10-24T17:53:51.855680+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGAP2 was added\ngene: PGAP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGAP2 were set to INTELLECTUAL DISABILITY",
"entity_name": "PGAP2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:51.563997+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX7 was added\ngene: PEX7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX7 were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1; REFSUM DISEASE; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:51.057451+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX6 was added\ngene: PEX6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX6 were set to ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:50.759695+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX5 was added\ngene: PEX5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX5 were set to ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; ADRENOLEUKODYSTROPHY NEONATAL",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:50.468711+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX3 was added\ngene: PEX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX3 were set to ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:50.246415+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX26 was added\ngene: PEX26 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX26 were set to ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 8; INFANTILE REFSUM DISEASE; ADRENOLEUKODYSTROPHY NEONATAL",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:49.950052+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX2 was added\ngene: PEX2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX2 were set to ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:49.455239+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX19 was added\ngene: PEX19 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX19 were set to ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:49.158567+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX16 was added\ngene: PEX16 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX16 were set to ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:48.866109+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX14 was added\ngene: PEX14 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX14 were set to ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:48.646279+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX13 was added\ngene: PEX13 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX13 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13; ADRENOLEUKODYSTROPHY NEONATAL",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:48.155519+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX12 was added\ngene: PEX12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX12 were set to ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:47.865020+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX11B was added\ngene: PEX11B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:47.577065+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX10 was added\ngene: PEX10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX10 were set to ZELLWEGER SYNDROME; ADRENOLEUKODYSTROPHY NEONATAL; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:47.357997+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX1 was added\ngene: PEX1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX1 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1; INFANTILE REFSUM DISEASE; ADRENOLEUKODYSTROPHY NEONATAL",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:47.062169+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEPD was added\ngene: PEPD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEPD were set to PROLIDASE DEFICIENCY",
"entity_name": "PEPD",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:46.564284+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDHA1 was added\ngene: PDHA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PDHA1 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: PDHA1 were set to 26865159\nPhenotypes for gene: PDHA1 were set to X-LINKED LEIGH SYNDROME; PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES; INTELLECTUAL DISABILTIY; Pyruvate dehydrogenase E1-alpha deficiency",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:46.345320+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDGFRB was added\ngene: PDGFRB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PDGFRB were set to FAMILIAL INFANTILE MYOFIBROMATOSIS; PREMATURE AGING SYNDROME, PENTTINEN TYPE",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:46.055644+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDE4D was added\ngene: PDE4D was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PDE4D were set to ACRODYSOSTOSIS",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:45.763332+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDCD10 was added\ngene: PDCD10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PDCD10 were set to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:45.475234+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCYT1A was added\ngene: PCYT1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCYT1A were set to SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:45.253317+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCNT was added\ngene: PCNT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCNT were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:44.755835+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCGF2 was added\ngene: PCGF2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PCGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PCGF2 were set to 30526864\nPhenotypes for gene: PCGF2 were set to Craniofacial Neurological Cardiovascular and Skeletal Features; Intellectual disability; INTELLECTUAL DUSBILITY",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:44.463057+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAX8 was added\ngene: PAX8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PAX8 were set to CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:44.246208+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAX6 was added\ngene: PAX6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PAX6 were set to COLOBOMA OF OPTIC NERVE; FOVEAL HYPOPLASIA; ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY; PETERS ANOMALY; KERATITIS HEREDITARY; ANIRIDIA; BILATERAL OPTIC NERVE HYPOPLASIA",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:43.956156+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAX3 was added\ngene: PAX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PAX3 were set to CRANIOFACIAL-DEAFNESS-HAND SYNDROME; WAARDENBURG SYNDROME, TYPE 1",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:43.665894+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAX2 was added\ngene: PAX2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PAX2 were set to RENAL-COLOBOMA SYNDROME",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:43.247357+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PARN was added\ngene: PARN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PARN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PARN were set to Dyskeratosis congenita, autosomal recessive 6",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:42.961008+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAPSS2 was added\ngene: PAPSS2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PAPSS2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:42.666692+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PALB2 was added\ngene: PALB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PALB2 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP N",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:42.449945+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAK3 was added\ngene: PAK3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PAK3 were set to 24556213\nPhenotypes for gene: PAK3 were set to AGENESIS OF THE CORPUS CALLOSUM; MENTAL RETARDATION X-LINKED TYPE 30",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:42.158637+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAFAH1B1 was added\ngene: PAFAH1B1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PAFAH1B1 were set to SUBCORTICAL BAND HETEROTOPIA; LISSENCEPHALY TYPE 1",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:41.666708+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: P3H1 was added\ngene: P3H1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: P3H1 were set to OSTEOGENESIS IMPERFECTA, TYPE VIII",
"entity_name": "P3H1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:41.451271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTX2 was added\ngene: OTX2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: OTX2 were set to MICROPHTHALMIA SYNDROMIC TYPE 5",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:41.153323+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OSTM1 was added\ngene: OSTM1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OSTM1 were set to Osteopetrosis 259720",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:40.859825+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ORC6 was added\ngene: ORC6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ORC6 were set to MEIER-GORLIN SYNDROME 3",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:40.571147+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ORC4 was added\ngene: ORC4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ORC4 were set to MEIER-GORLIN SYNDROME 2",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:40.153756+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ORC1 was added\ngene: ORC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ORC1 were set to MEIER-GORLIN SYNDROME 1",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:39.860315+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OPHN1 was added\ngene: OPHN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OPHN1 were set to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:39.574771+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OFD1 was added\ngene: OFD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: OFD1 were set to SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2; JOUBERT SYNDROME TYPE 10; ORAL-FACIAL-DIGITAL SYNDROME TYPE 1",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:39.355306+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OCRL was added\ngene: OCRL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: OCRL were set to 33517444\nPhenotypes for gene: OCRL were set to Lowe syndrome, OMIM:309000; Dent disease 2, OMIM:300555",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:38.862542+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OCLN was added\ngene: OCLN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria 251290",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:38.646267+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OBSL1 was added\ngene: OBSL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OBSL1 were set to 3-M SYNDROME 2",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:38.360136+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP107 was added\ngene: NUP107 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUP107 were set to EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:38.072526+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUBPL was added\ngene: NUBPL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUBPL were set to MITOCHONDRIAL COMPLEX I DEFICIENCY",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:37.853928+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NSDHL was added\ngene: NSDHL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NSDHL 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: NSDHL were set to CK SYNDROME; CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:37.562453+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NSD1 was added\ngene: NSD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NSD1 were set to BECKWITH-WIEDEMANN SYNDROME; WEAVER SYNDROME; SOTOS SYNDROME",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:37.072443+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NRAS was added\ngene: NRAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NRAS were set to NOONAN SYNDROME TYPE 6",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:36.854677+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NR5A1 was added\ngene: NR5A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NR5A1 were set to SPERMATOGENIC FAILURE 8; 46XY SEX REVERSAL 3",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:36.564095+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NR2F2 was added\ngene: NR2F2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NR2F2 were set to CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:36.346106+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NR0B1 was added\ngene: NR0B1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NR0B1 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: NR0B1 were set to 46XY sex reversal 2, dosage-sensitive 300018; Adrenal hypoplasia, congenital 300200",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:36.058845+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPR2 was added\ngene: NPR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPR2 were set to ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE",
"entity_name": "NPR2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:35.566402+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPHS1 was added\ngene: NPHS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHS1 were set to NEPHROTIC SYNDROME TYPE 1",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:35.346153+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPHP4 was added\ngene: NPHP4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP4 were set to NEPHRONOPHTHISIS TYPE 4",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:35.057016+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPHP3 was added\ngene: NPHP3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP3 were set to RENAL-HEPATIC-PANCREATIC DYSPLASIA; NEPHRONOPHTHISIS TYPE 3; MECKEL SYNDROME TYPE 7",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:34.768994+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPHP1 was added\ngene: NPHP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP1 were set to NEPHRONOPHTHISIS TYPE 1; JOUBERT SYNDROME TYPE 4; SENIOR-LOKEN SYNDROME TYPE 1",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:34.554174+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPC2 was added\ngene: NPC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPC2 were set to NIEMANN-PICK DISEASE, TYPE C2",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:34.061138+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPC1 was added\ngene: NPC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPC1 were set to NIEMANN-PICK DISEASE, TYPE C1",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:33.779274+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOTCH2 was added\ngene: NOTCH2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NOTCH2 were set to HAJDU-CHENEY SYNDROME",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:33.557416+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOTCH1 was added\ngene: NOTCH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NOTCH1 were set to ADAMS OLIVER SYNDROME; LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:33.271271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOG was added\ngene: NOG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NOG were set to SYMPHALANGISM PROXIMAL SYNDROME; TARSAL-CARPAL COALITION SYNDROME; MULTIPLE SYNOSTOSES SYNDROME TYPE 1; BRACHYDACTYLY TYPE B2; STAPES ANKYLOSIS WITH BROAD THUMB AND TOES",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:33.054055+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NODAL was added\ngene: NODAL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NODAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NODAL were set to HETEROTAXY SYNDROME",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:32.568245+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKX3-2 was added\ngene: NKX3-2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NKX3-2 were set to SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA",
"entity_name": "NKX3-2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:32.277013+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKX2-5 was added\ngene: NKX2-5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NKX2-5 were set to CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5; TETRALOGY OF FALLOT; ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:32.056980+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NIPBL was added\ngene: NIPBL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NIPBL were set to CORNELIA DE LANGE SYNDROME TYPE 1",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:31.771756+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NHS was added\ngene: NHS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NHS were set to CATARACT CONGENITAL X-LINKED; NANCE-HORAN SYNDROME",
"entity_name": "NHS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:31.555734+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NHEJ1 was added\ngene: NHEJ1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:31.265972+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NFIX was added\ngene: NFIX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NFIX were set to SOTOS-LIKE SYNDROME; MARSHALL-SMITH SYNDROME",
"entity_name": "NFIX",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:30.762644+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NF1 was added\ngene: NF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NF1 were set to FAMILIAL SPINAL NEUROFIBROMATOSIS; NEUROFIBROMATOSIS-NOONAN SYNDROME; WATSON SYNDROME; NEUROFIBROMATOSIS TYPE 1",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:30.546249+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEU1 was added\ngene: NEU1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEU1 were set to SIALIDOSIS",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:30.261483+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEK1 was added\ngene: NEK1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEK1 were set to SHORT RIB-POLYDACTYLY SYNDROME, TYPE II; Short-rib thoracic dysplasia 6 with or without polydactyly, 263520; SHORT RIB-POLYDACTYLY SYNDORME, TYPE II",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:30.045340+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NECTIN4 was added\ngene: NECTIN4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NECTIN4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NECTIN4 were set to ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1",
"entity_name": "NECTIN4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:29.751804+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEB was added\ngene: NEB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEB were set to AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:29.466256+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFAF5 was added\ngene: NDUFAF5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFAF5 were set to 30266093; 18940309; 21620786\nPhenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 618238",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:28.970065+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDP was added\ngene: NDP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: NDP were set to 30125416\nPhenotypes for gene: NDP were set to NORRIE DISEASE",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:28.754235+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDE1 was added\ngene: NDE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDE1 were set to LISSENCEPHALY 4",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:28.466409+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NBN was added\ngene: NBN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NBN were set to NIJMEGEN BREAKAGE SYNDROME",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:28.252013+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NBAS was added\ngene: NBAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NBAS were set to ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:27.965620+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NANS was added\ngene: NANS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NANS were set to infantile-onset severe developmental delay and skeletal dysplasia",
"entity_name": "NANS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:27.751435+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NALCN was added\ngene: NALCN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NALCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: NALCN were set to HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES; CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:27.269327+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAGA was added\ngene: NAGA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAGA were set to SCHINDLER DISEASE; KANZAKI DISEASE",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:26.973345+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NACC1 was added\ngene: NACC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NACC1 were set to Infantile Epilepsy, Cataracts, and Profound Developmental Delay",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:26.759469+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAA10 was added\ngene: NAA10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NAA10 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: NAA10 were set to X-linked anophthalmia syndrome/Lenz; X-linked anophthalmia syndrome; NONPECIFIC SEVERE ID; OGDEN SYNDROME",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:26.474398+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYT1 was added\ngene: MYT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MYT1 were set to 28612832; 27358179\nPhenotypes for gene: MYT1 were set to Oculo-auriculo-vertebral spectrum (OAVS); OAVS/Goldenhar syndrome\nMode of pathogenicity for gene: MYT1 was set to Other",
"entity_name": "MYT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:26.260879+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYRF was added\ngene: MYRF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MYRF were set to 30985895; 30070761; 31069960; 29446546; 30532227\nPhenotypes for gene: MYRF were set to Congenital diaphragmatic hernia (CDH); Cardiac-urogenital syndrome, 618280; Disorders of sex development (DSD)",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:25.977955+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYH9 was added\ngene: MYH9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MYH9 were set to MAY-HEGGLIN ANOMALY; FECHTNER SYNDROME; EPSTEIN SYNDROME; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS; SEBASTIAN SYNDROME; DEAFNESS AUTOSOMAL DOMINANT TYPE 17",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:25.552902+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYH8 was added\ngene: MYH8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MYH8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MYH8 were set to CARNEY COMPLEX VARIANT; DISTAL ARTHROGRYPOSIS TYPE",
"entity_name": "MYH8",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:25.265864+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYH6 was added\ngene: MYH6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MYH6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYH6 were set to ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14; CARDIOMYOPATHY DILATED TYPE 1EE",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:25.055682+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYH3 was added\ngene: MYH3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MYH3 were set to DISTAL ARTHROGRYPOSIS TYPE 2A; DISTAL ARTHROGRYPOSIS TYPE 2B",
"entity_name": "MYH3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:24.771489+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYH11 was added\ngene: MYH11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MYH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYH11 were set to 29575632; 25407000; 31427716\nPhenotypes for gene: MYH11 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:24.554179+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYH10 was added\ngene: MYH10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MYH10 were set to 30712878\nPhenotypes for gene: MYH10 were set to MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly; aqueductal stenosis",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:24.271132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYCN was added\ngene: MYCN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MYCN were set to FEINGOLD SYNDROME TYPE 1",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:24.053268+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYBPC1 was added\ngene: MYBPC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: MYBPC1 were set to Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:23.564016+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MUSK was added\ngene: MUSK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Fetal akinesia deformation sequence",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:23.347424+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTOR was added\ngene: MTOR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MTOR were set to Smith-Kingsmore syndrome",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:23.061110+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTO1 was added\ngene: MTO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTO1 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:22.845378+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTM1 was added\ngene: MTM1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MTM1 were set to MYOTUBULAR MYOPATHY, X-LINKED",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:22.560986+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MSX2 was added\ngene: MSX2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MSX2 were set to ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM; CRANIOSYNOSTOSIS, TYPE 2",
"entity_name": "MSX2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:22.347575+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MSX1 was added\ngene: MSX1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MSX1 were set to CLEFT LIP +/- CLEFT PALATE",
"entity_name": "MSX1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:22.060443+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MSL3 was added\ngene: MSL3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MSL3 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: MSL3 were set to 30224647\nPhenotypes for gene: MSL3 were set to Basilicata-Akhtar syndrome, 301032; MSL3 syndrome",
"entity_name": "MSL3",
"entity_type": "gene"
}
]
}