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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1163",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1161",
"results": [
{
"created": "2021-10-24T18:02:15.759217+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS1 was added\ngene: HPS1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS1 were set to HERMANSKY-PUDLAK SYNDROME",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:14.969042+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPRT1 was added\ngene: HPRT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HPRT1 were set to LESCH-NYHAN SYNDROME; GOUT HPRT-RELATED",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:14.458557+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPGD was added\ngene: HPGD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPGD were set to CRANIOOSTEOARTHROPATHY",
"entity_name": "HPGD",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:13.670003+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HOXC13 was added\ngene: HOXC13 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HOXC13 were set to PURE HAIR AND NAIL ECTODERMAL DYSPLASIA",
"entity_name": "HOXC13",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:12.951254+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNRNPU was added\ngene: HNRNPU was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HNRNPU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HNRNPU were set to EPILEPTIC ENCEPHALOPATHY",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:12.363236+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HMGCS2 was added\ngene: HMGCS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HMGCS2 were set to 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:11.567970+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HMGCL was added\ngene: HMGCL was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HMGCL were set to 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:11.053923+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HLCS was added\ngene: HLCS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HLCS were set to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:10.261086+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HINT1 was added\ngene: HINT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HINT1 were set to NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE",
"entity_name": "HINT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:09.672935+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HEXB was added\ngene: HEXB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEXB were set to GM2-GANGLIOSIDOSIS TYPE 2",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:08.864317+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HEXA was added\ngene: HEXA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HEXA were set to 23035047\nPhenotypes for gene: HEXA were set to GM2-GANGLIOSIDOSIS TYPE 1",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:08.357093+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HECW2 was added\ngene: HECW2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HECW2 were set to HECW2",
"entity_name": "HECW2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:07.564225+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HDAC4 was added\ngene: HDAC4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HDAC4 were set to BRACHYDACTYLY-MENTAL RETARDATION SYNDROME",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:06.770464+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HCN1 was added\ngene: HCN1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HCN1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24",
"entity_name": "HCN1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:06.261046+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HAX1 was added\ngene: HAX1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HAX1 were set to NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:05.465810+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADH was added\ngene: HADH was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADH were set to 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:04.949474+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HACE1 was added\ngene: HACE1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HACE1 were set to HACE1 related disorder",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:04.154121+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: H3F3A was added\ngene: H3F3A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: H3F3A were set to Craniofacial with neurodevelopment disorders",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:03.574778+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: H19 was added\ngene: H19 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: H19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: H19 were set to Beckwith-Wiedemann syndrome 130650; Silver-Russell syndrome 180860; Wilms tumor 2 194071\nMode of pathogenicity for gene: H19 was set to Other",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:02.853054+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRM6 was added\ngene: GRM6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GRM6 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:02.263303+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRIN2A was added\ngene: GRIN2A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GRIN2A were set to EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; LANDAU-KLEFFNER SYNDROME",
"entity_name": "GRIN2A",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:01.422944+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRIK2 was added\ngene: GRIK2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GRIK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GRIK2 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6",
"entity_name": "GRIK2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:00.569681+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRIA3 was added\ngene: GRIA3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GRIA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GRIA3 were set to MENTAL RETARDATION X-LINKED TYPE 94",
"entity_name": "GRIA3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:00.074087+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GMPPA was added\ngene: GMPPA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GMPPA were set to GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:59.262582+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLUD1 was added\ngene: GLUD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GLUD1 were set to HYPERINSULINISM-HYPERAMMONEMIA SYNDROME",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:58.665786+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLMN was added\ngene: GLMN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GLMN were set to GLOMUVENOUS MALFORMATIONS",
"entity_name": "GLMN",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:57.953565+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GK was added\ngene: GK was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GK were set to 8651297\nPhenotypes for gene: GK were set to GLYCEROL KINASE DEFICIENCY",
"entity_name": "GK",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:57.375754+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJB2 was added\ngene: GJB2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GJB2 were set to 24346921; 23035047\nPhenotypes for gene: GJB2 were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A; BART-PUMPHREY SYNDROME; VOHWINKEL SYNDROME; ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME; PALMOPLANTAR KERATODERMA WITH DEAFNESS",
"entity_name": "GJB2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:56.651067+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GHR was added\ngene: GHR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GHR were set to PITUITARY DWARFISM II",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:56.066805+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDI1 was added\ngene: GDI1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GDI1 were set to MENTAL RETARDATION X-LINKED TYPE 41; MENTAL RETARDATION X-LINKED TYPE 48",
"entity_name": "GDI1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:55.352124+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDF2 was added\ngene: GDF2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GDF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GDF2 were set to 32618121\nPhenotypes for gene: GDF2 were set to hydrops; hydrothorax; Lymphatic dysplasia",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:54.562493+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GCH1 was added\ngene: GCH1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GCH1 were set to DYSTONIA TYPE 5; GTP CYCLOHYDROLASE 1 DEFICIENCY",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:54.053581+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATM was added\ngene: GATM was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GATM were set to ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:53.263831+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATAD2B was added\ngene: GATAD2B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GATAD2B were set to NONSPECIFIC SEVERE ID",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:52.746126+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GAS8 was added\ngene: GAS8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GAS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GAS8 were set to 30166424\nPhenotypes for gene: GAS8 were set to PRIMARY CILIARY DYSKINESIA",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:51.957772+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GAMT was added\ngene: GAMT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAMT were set to GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:51.448285+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALT was added\ngene: GALT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALT were set to GALACTOSEMIA",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:50.657427+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GABRB3 was added\ngene: GABRB3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GABRB3 were set to CHILDHOOD ABSENCE EPILEPSY TYPE 5; EPILEPTIC ENCEPHALOPATHIES",
"entity_name": "GABRB3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:50.075120+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FZD6 was added\ngene: FZD6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FZD6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FZD6 were set to NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10",
"entity_name": "FZD6",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:49.356746+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FUZ was added\ngene: FUZ was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FUZ was set to Unknown\nPhenotypes for gene: FUZ were set to Neural tube defects 182940",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:48.561737+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FTSJ1 was added\ngene: FTSJ1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FTSJ1 were set to MENTAL RETARDATION X-LINKED TYPE 44",
"entity_name": "FTSJ1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:48.054389+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FTCD was added\ngene: FTCD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FTCD were set to GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:47.265557+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRMD7 was added\ngene: FRMD7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FRMD7 were set to NYSTAGMUS 1, CONGENITAL, X-LINKED",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:46.754740+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXP1 was added\ngene: FOXP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FOXP1 were set to MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:45.964995+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXN1 was added\ngene: FOXN1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FOXN1 were set to ALOPECIA AND T-CELL IMMUNODEFICIENCY",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:45.455989+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FMR1 was added\ngene: FMR1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FMR1 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: FMR1 were set to FRAGILE X TREMOR/ATAXIA SYNDROME; FRAGILE X SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:44.664449+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLVCR1 was added\ngene: FLVCR1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FLVCR1 were set to ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:44.156622+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLRT3 was added\ngene: FLRT3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FLRT3 was set to Unknown\nPhenotypes for gene: FLRT3 were set to Hypogonadotropic hypogonadism 21 with anosmia 615271",
"entity_name": "FLRT3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:43.364735+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLAD1 was added\ngene: FLAD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FLAD1 were set to Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.",
"entity_name": "FLAD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:42.855964+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FHL1 was added\ngene: FHL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FHL1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:42.065833+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGF20 was added\ngene: FGF20 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FGF20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FGF20 were set to 22698282; 23112089\nPhenotypes for gene: FGF20 were set to ?Renal hypodysplasia/aplasia 2, 615721",
"entity_name": "FGF20",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:41.354177+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGF17 was added\ngene: FGF17 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FGF17 was set to Unknown\nPhenotypes for gene: FGF17 were set to Hypogonadotropic hypogonadism 20 with or without anosmia 615270",
"entity_name": "FGF17",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:40.770018+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGF12 was added\ngene: FGF12 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FGF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FGF12 were set to EPILEPTIC ENCEPHALOPATHY",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:40.049976+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGD4 was added\ngene: FGD4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease 609311",
"entity_name": "FGD4",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:39.468847+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBXO11 was added\ngene: FBXO11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FBXO11 were set to 30057029\nPhenotypes for gene: FBXO11 were set to Variable Neurodevelopmental Disorder",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:38.661976+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBP1 was added\ngene: FBP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FBP1 were set to FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:38.153695+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FARS2 was added\ngene: FARS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FARS2 was set to \nPublications for gene: FARS2 were set to 28043061; 29326872; 27549011; 29126765; 27095821\nPhenotypes for gene: FARS2 were set to Neurometabolic disorder due to FARS2 deficiency",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:37.366364+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM161A was added\ngene: FAM161A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM161A were set to RETINITIS PIGMENTOSA 28",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:36.849759+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETHE1 was added\ngene: ETHE1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETHE1 were set to ETHYLMALONIC ENCEPHALOPATHY",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:36.059046+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC6L2 was added\ngene: ERCC6L2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC6L2 were set to BONE MARROW FAILURE SYNDROME 2",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:35.470407+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPHX1 was added\ngene: EPHX1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: EPHX1 was set to Unknown\nPhenotypes for gene: EPHX1 were set to Diphenylhydantoin toxicity; Hypercholanemia, familial; ?Fetal hydantoin syndrome",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:34.753505+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ENPP1 was added\ngene: ENPP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ENPP1 were set to HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:33.968033+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EGR2 was added\ngene: EGR2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: EGR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EGR2 were set to NEUROPATHY, CONGENITAL HYPOMYELINATING, 1",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:33.456322+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EDAR was added\ngene: EDAR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: EDAR was set to Unknown\nPhenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:32.668365+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DUSP6 was added\ngene: DUSP6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DUSP6 was set to Unknown\nPhenotypes for gene: DUSP6 were set to Hypogonadotropic hypogonadism 19 with or without anosmia 615269",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:32.156482+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DSPP was added\ngene: DSPP was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DSPP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DSPP were set to DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II; DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1",
"entity_name": "DSPP",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:31.366017+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOCK8 was added\ngene: DOCK8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK8 were set to HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:30.854263+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAH2 was added\ngene: DNAH2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DNAH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH2 were set to 32732226\nPhenotypes for gene: DNAH2 were set to Hydrops; Complex cardiopathy",
"entity_name": "DNAH2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:30.065539+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DMP1 was added\ngene: DMP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DMP1 were set to HYPOPHOSPHATEMIC RICKETS, AR",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:29.557549+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLG3 was added\ngene: DLG3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DLG3 were set to MENTAL RETARDATION X-LINKED TYPE 90",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:28.763187+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLD was added\ngene: DLD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLD were set to LEIGH SYNDROME; DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:28.256382+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLAT was added\ngene: DLAT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLAT were set to PYRUVATE DEHYDROGENASE E2 DEFICIENCY",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:27.448991+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHH was added\ngene: DHH was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DHH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHH were set to 46XY partial gonadal dysgenesis, with minifascicular neuropathy; 46XY sex reversal 7",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:26.647289+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DEPDC5 was added\ngene: DEPDC5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DEPDC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DEPDC5 were set to FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:26.063846+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DEAF1 was added\ngene: DEAF1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DEAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DEAF1 were set to Autism, intellectual disability, basal ganglia dysfunction and epilepsy; MENTAL RETARDATION, AUTOSOMAL DOMINANT 24",
"entity_name": "DEAF1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:25.349860+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDOST was added\ngene: DDOST was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDOST were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:24.766526+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDHD2 was added\ngene: DDHD2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDHD2 were set to COMPLEX HEREDITARY SPASTIC PARAPLEGIA",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:24.046944+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDHD1 was added\ngene: DDHD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDHD1 were set to HEREDITARY SPASTIC PARAPLEGIA",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:23.472260+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDC was added\ngene: DDC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:22.757054+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDB2 was added\ngene: DDB2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDB2 were set to XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:22.248168+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DBT was added\ngene: DBT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DBT were set to MAPLE SYRUP URINE DISEASEQ",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:21.466010+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DARS2 was added\ngene: DARS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DARS2 were set to LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:20.954170+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP19A1 was added\ngene: CYP19A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CYP19A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CYP19A1 were set to Aromatase deficiency 613546; Aromatase excess syndrome 139300",
"entity_name": "CYP19A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:20.169577+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYC1 was added\ngene: CYC1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYC1 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6",
"entity_name": "CYC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:19.659814+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTNS was added\ngene: CTNS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTNS were set to CYSTINOSIS NEPHROPATHIC TYPE; CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE; CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:18.947669+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSTB was added\ngene: CSTB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CSTB were set to UNVERRICHT-LUNDBORG DISEASE",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:18.154522+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRX was added\ngene: CRX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CRX were set to CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:17.646133+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRB1 was added\ngene: CRB1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRB1 were set to RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE; LEBER CONGENITAL AMAUROSIS 8",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:16.861485+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPS1 was added\ngene: CPS1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPS1 were set to CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:16.348437+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COX6B1 was added\ngene: COX6B1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX6B1 were set to 24781756; 18499082\nPhenotypes for gene: COX6B1 were set to Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051",
"entity_name": "COX6B1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:15.558295+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COX15 was added\ngene: COX15 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX15 were set to LEIGH SYNDROME; MITOCHONDRIAL COMPLEX IV DEFICIENCY",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:15.052026+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COX10 was added\ngene: COX10 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX10 were set to LEIGH SYNDROME; MITOCHONDRIAL COMPLEX IV DEFICIENCY",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:14.265344+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COQ8A was added\ngene: COQ8A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary 4, 612016",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:13.758056+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COQ2 was added\ngene: COQ2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ2 were set to COENZYME Q10 DEFICIENCY",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:12.967870+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COMP was added\ngene: COMP was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COMP were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1; ARE THE CAUSE OF PSEUDOACHONDROPLASIA",
"entity_name": "COMP",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:12.462456+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL9A3 was added\ngene: COL9A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL9A3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:11.747042+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL5A2 was added\ngene: COL5A2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome, classic type 130000",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:11.171742+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL5A1 was added\ngene: COL5A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, classic type 130000",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:10.458012+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL4A4 was added\ngene: COL4A4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL4A4 were set to ALPORT SYNDROME AUTOSOMAL RECESSIVE",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:01:09.946950+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL4A3 was added\ngene: COL4A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: COL4A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL4A3 were set to ALPORT SYNDROME AUTOSOMAL DOMINANT; ALPORT SYNDROME AUTOSOMAL RECESSIVE",
"entity_name": "COL4A3",
"entity_type": "gene"
}
]
}