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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1161",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1159",
"results": [
{
"created": "2021-10-24T18:04:39.156251+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFRSF11B was added\ngene: TNFRSF11B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNFRSF11B were set to Paget disease 239000",
"entity_name": "TNFRSF11B",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:38.550016+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMPRSS6 was added\ngene: TMPRSS6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMPRSS6 were set to IRON-REFRACTORY IRON DEFICIENCY ANEMIA",
"entity_name": "TMPRSS6",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:37.665329+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM70 was added\ngene: TMEM70 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM70 were set to MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:37.072954+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM126B was added\ngene: TMEM126B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM126B were set to Muscle Weakness and Isolated Complex I Deficiency",
"entity_name": "TMEM126B",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:36.247444+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TK2 was added\ngene: TK2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TK2 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:35.358599+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TIMM8A was added\ngene: TIMM8A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TIMM8A were set to JENSEN SYNDROME; MOHR-TRANEBJAERG SYNDROME",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:34.758746+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THAP1 was added\ngene: THAP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: THAP1 were set to DYSTONIA 6, TORSION",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:33.951256+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TH was added\ngene: TH was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TH were set to DOPA-RESPONSIVE DYSTONIA",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:33.068087+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGFB1 was added\ngene: TGFB1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TGFB1 were set to CAMURATI-ENGELMANN DISEASE",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:32.451796+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TERT was added\ngene: TERT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal recessive 4",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:31.580997+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TEK was added\ngene: TEK was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TEK were set to VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:30.759011+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCN2 was added\ngene: TCN2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCN2 were set to Transcobalamin II deficiency",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:30.155671+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBXAS1 was added\ngene: TBXAS1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBXAS1 were set to GHOSAL HEMATODIAPHYSEAL SYNDROME",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:29.269040+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TAT was added\ngene: TAT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TAT were set to TYROSINEMIA TYPE 2",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:28.663827+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TANGO2 was added\ngene: TANGO2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TANGO2 were set to Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:27.856590+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SYP was added\ngene: SYP was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SYP were set to MENTAL RETARDATION X-LINKED SYP-RELATED",
"entity_name": "SYP",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:27.051998+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SYNGAP1 was added\ngene: SYNGAP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SYNGAP1 were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5; EPILEPTIC ENCEPHALOPATHY",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:26.449841+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SURF1 was added\ngene: SURF1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SURF1 were set to LEIGH SYNDROME; COMPLEX IV DEFICIENCY",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:25.572100+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STXBP1 was added\ngene: STXBP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: STXBP1 were set to ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER; EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:24.764945+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STS was added\ngene: STS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: STS were set to ICHTHYOSIS, X-LINKED",
"entity_name": "STS",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:24.168726+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAT1 was added\ngene: STAT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: STAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: STAT1 were set to STAT1 DEFICIENCY COMPLETE; FAMILIAL CANDIDIASIS TYPE 7; MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:23.365065+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAG1 was added\ngene: STAG1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: STAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: STAG1 were set to STAG1 syndromic intellectual disability",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:22.762405+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPTLC2 was added\ngene: SPTLC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SPTLC2 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC",
"entity_name": "SPTLC2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:21.957000+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPTBN5 was added\ngene: SPTBN5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SPTBN5 was set to Unknown\nPublications for gene: SPTBN5 were set to 28007035; 32732226\nPhenotypes for gene: SPTBN5 were set to Sacral agenesis; Multicystic kidney; Oligohydramnios",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:21.150619+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPTBN2 was added\ngene: SPTBN2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SPTBN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPTBN2 were set to 28636205; 29196973\nPhenotypes for gene: SPTBN2 were set to Infantile ataxia with oculomotor and pyramidal signs; SCA14; Spinocerebellar ataxia, autosomal recessive 14, 615386",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:20.548380+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPRY4 was added\ngene: SPRY4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SPRY4 was set to Unknown\nPhenotypes for gene: SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia 615266",
"entity_name": "SPRY4",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:19.670590+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPR was added\ngene: SPR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPR were set to DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:18.864245+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SP110 was added\ngene: SP110 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency 235550",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:18.266494+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCAL1 was added\ngene: SMARCAL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMARCAL1 were set to SCHIMKE IMMUNOOSSEOUS DYSPLASIA",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:17.465806+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC9A6 was added\ngene: SLC9A6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC9A6 were set to MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:16.857269+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A8 was added\ngene: SLC6A8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC6A8 were set to X-LINKED CREATINE DEFICIENCY SYNDROME",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:16.052779+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A5 was added\ngene: SLC6A5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC6A5 were set to Hyperekplexia 3, 614618",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:15.171193+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A3 was added\ngene: SLC6A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC6A3 were set to PARKINSONISM-DYSTONIA, INFANTILE",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:14.569679+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A1 was added\ngene: SLC6A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SLC6A1 were set to EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES",
"entity_name": "SLC6A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:13.768740+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC5A5 was added\ngene: SLC5A5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC5A5 were set to THYROID HORMONOGENESIS DEFECT I",
"entity_name": "SLC5A5",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:12.966520+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC52A3 was added\ngene: SLC52A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC52A3 were set to BROWN-VIALETTO-VAN LAERE SYNDROME",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:12.359425+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC52A2 was added\ngene: SLC52A2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC52A2 were set to 22740598; 24253200\nPhenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:11.551299+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC4A4 was added\ngene: SLC4A4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC4A4 were set to 16636648; 10545938; 11131345\nPhenotypes for gene: SLC4A4 were set to PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:10.951836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC4A11 was added\ngene: SLC4A11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC4A11 were set to CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4",
"entity_name": "SLC4A11",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:10.147423+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC4A1 was added\ngene: SLC4A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SLC4A1 were set to RENAL TUBULAR ACIDOSIS, DISTAL, AD; RENAL TUBULAR ACIDOSIS, DISTAL, AR",
"entity_name": "SLC4A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:09.270127+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC46A1 was added\ngene: SLC46A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC46A1 were set to HEREDITARY FOLATE MALABSORPTION",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:08.746125+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC39A13 was added\ngene: SLC39A13 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC39A13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION; EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA",
"entity_name": "SLC39A13",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:07.870640+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC37A4 was added\ngene: SLC37A4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib 232220",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:07.347331+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC2A2 was added\ngene: SLC2A2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC2A2 were set to FANCONI-BICKEL SYNDROME",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:06.513608+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC2A1 was added\ngene: SLC2A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SLC2A1 were set to GLUT1 DEFICIENCY SYNDROME TYPE 2; GLUT1 DEFICIENCY SYNDROME TYPE 1",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:05.659097+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A26 was added\ngene: SLC25A26 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A26 were set to INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:05.060627+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A15 was added\ngene: SLC25A15 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A15 were set to HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:04.255334+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC22A5 was added\ngene: SLC22A5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC22A5 were set to SYSTEMIC PRIMARY CARNITINE DEFICIENCY",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:03.456826+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC19A3 was added\ngene: SLC19A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC19A3 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:02.852554+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SKIV2L was added\ngene: SKIV2L was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SKIV2L were set to TRICHOHEPATOENTERIC SYNDROME 2",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:01.951460+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIX1 was added\ngene: SIX1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SIX1 were set to BRANCHIOOTIC SYNDROME TYPE 3; DEAFNESS AUTOSOMAL DOMINANT TYPE 23",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:01.284368+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIM1 was added\ngene: SIM1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SIM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SIM1 were set to 23778136; 23778139; 28472148\nPhenotypes for gene: SIM1 were set to Severe obesity with neurobehavioral features",
"entity_name": "SIM1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:00.460056+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIK1 was added\ngene: SIK1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SIK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SIK1 were set to NEONATAL EPILEPSY SPECTRUM",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:59.571177+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHROOM4 was added\ngene: SHROOM4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SHROOM4 were set to 32565546\nPhenotypes for gene: SHROOM4 were set to Stocco dos Santos X-linked mental retardation syndrome, 300434",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:58.973124+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGCA was added\ngene: SGCA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D 608099",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:58.170140+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SELENON was added\ngene: SELENON was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SELENON were set to Myopathy, congenital, with fiber-type disproportion 255310; Muscular dystrophy, rigid spine 602771",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:57.571188+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SDHAF1 was added\ngene: SDHAF1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDHAF1 were set to MITOCHONDRIAL COMPLEX II DEFICIENCY",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:56.766984+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SDHA was added\ngene: SDHA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDHA were set to LEIGH SYNDROME",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:55.959981+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCO1 was added\ngene: SCO1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048",
"entity_name": "SCO1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:55.360459+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN8A was added\ngene: SCN8A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SCN8A were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:54.557030+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN7A was added\ngene: SCN7A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SCN7A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCN7A were set to 32732226\nPhenotypes for gene: SCN7A were set to Holoprosencephaly",
"entity_name": "SCN7A",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:53.756436+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN1B was added\ngene: SCN1B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SCN1B were set to EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1; BRUGADA SYNDROME 5",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:53.157003+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN1A was added\ngene: SCN1A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SCN1A were set to 29543227; 32928894\nPhenotypes for gene: SCN1A were set to Dravet syndrome, OMIM:607208; Arthrogryposis multiplex congenita",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:52.346182+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN11A was added\ngene: SCN11A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SCN11A were set to CONGENITAL INABILITY TO EXPERIENCE PAIN",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:51.751728+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RTN4IP1 was added\ngene: RTN4IP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RTN4IP1 were set to EARLY-ONSET RECESSIVE OPTIC NEUROPATHY",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:50.947532+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RSPO4 was added\ngene: RSPO4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RSPO4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RSPO4 were set to ANONYCHIA CONGENITA",
"entity_name": "RSPO4",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:50.150075+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RSPH3 was added\ngene: RSPH3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RSPH3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RSPH3 were set to 30166424\nPhenotypes for gene: RSPH3 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:49.555404+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RSPH1 was added\ngene: RSPH1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RSPH1 were set to 30166424\nPhenotypes for gene: RSPH1 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:48.747641+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPGRIP1 was added\ngene: RPGRIP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPGRIP1 were set to CONE-ROD DYSTROPHY 13; LEBER CONGENITAL AMAUROSIS 6",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:48.154644+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPE65 was added\ngene: RPE65 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPE65 were set to LEBER CONGENITAL AMAUROSIS",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:47.357515+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RFWD3 was added\ngene: RFWD3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RFWD3 were set to 28691929\nPhenotypes for gene: RFWD3 were set to ?Fanconi anemia, complementation group W, OMIM:617784",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:46.551742+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RETREG1 was added\ngene: RETREG1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RETREG1 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:45.953736+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB39B was added\ngene: RAB39B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RAB39B were set to 29152164; 20159109\nPhenotypes for gene: RAB39B were set to MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:45.157030+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: QDPR was added\ngene: QDPR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: QDPR were set to BH4-DEFICIENT HYPERPHENYLALANINEMIA C",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:44.556851+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PYGL was added\ngene: PYGL was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYGL were set to GLYCOGEN STORAGE DISEASE TYPE VI",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:43.757873+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PURA was added\ngene: PURA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PURA were set to INTELLECTUAL DISABILITY",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:42.956896+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTEN was added\ngene: PTEN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PTEN were set to LHERMITTE-DUCLOS DISEASE; PROTEUS SYNDROME; COWDEN DISEASE; BANNAYAN-ZONANA SYNDROME; VACTERL ASSOCIATION WITH HYDROCEPHALUS; MACROCEPHALY/AUTISM SYNDROME",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:42.353888+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTCHD1 was added\ngene: PTCHD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PTCHD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PTCHD1 were set to AUTISM/ID",
"entity_name": "PTCHD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:41.553961+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMB8 was added\ngene: PSMB8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSMB8 were set to NAKAJO SYNDROME",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:40.957239+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRX was added\ngene: PRX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PRX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PRX were set to Charcot-Marie-Tooth disease, type 4F 614895; Dejerine-Sottas disease 145900",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:40.154161+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRSS12 was added\ngene: PRSS12 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PRSS12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRSS12 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1",
"entity_name": "PRSS12",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:39.349907+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRRT2 was added\ngene: PRRT2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PRRT2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION; BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:38.754979+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRPS1 was added\ngene: PRPS1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PRPS1 were set to DEAFNESS X-LINKED TYPE 1; PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY; CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5; ARTS SYNDROME",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:37.956904+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PROP1 was added\ngene: PROP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PROP1 were set to PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:37.157644+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PROKR2 was added\ngene: PROKR2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PROKR2 were set to 17054399\nPhenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia 244200",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:36.553715+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PROK2 was added\ngene: PROK2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PROK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PROK2 were set to 17054399; 30712880\nPhenotypes for gene: PROK2 were set to Hypogonadotropic hypogonadism 4 with or without anosmia, 610628",
"entity_name": "PROK2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:35.749079+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRDM12 was added\ngene: PRDM12 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRDM12 were set to HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:35.154346+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPT1 was added\ngene: PPT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPT1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 1",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:34.349059+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPM1D was added\ngene: PPM1D was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PPM1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PPM1D were set to PPM1D syndrome",
"entity_name": "PPM1D",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:33.550415+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPA2 was added\ngene: PPA2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPA2 were set to Sudden arrhythmic cardiac death after infectious or alcohol trigger",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:32.955613+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLG was added\ngene: POLG was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLG were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 4A",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:32.149872+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLD1 was added\ngene: POLD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: POLD1 were set to SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:31.548593+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POC1B was added\ngene: POC1B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POC1B were set to AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:30.745242+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNPT1 was added\ngene: PNPT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNPT1 were set to RESPIRATORY CHAIN DISORDER; HEARING LOSS",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:29.870655+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PMS2 was added\ngene: PMS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PMS2 were set to MISMATCH REPAIR CANCER SYNDROME",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:29.352916+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PMP22 was added\ngene: PMP22 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PMP22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PMP22 were set to Neuropathy, recurrent, with pressure palsies 162500; Roussy-Levy syndrome 180800; Charcot-Marie-Tooth disease, type 1A 118220; Dejerine-Sottas disease 145900; Charcot-Marie-Tooth disease, type 1E 118300; Neuropathy, inflammatory demyelinating 139393",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:28.545510+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLP1 was added\ngene: PLP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PLP1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 1; SPASTIC PARAPLEGIA X-LINKED TYPE 2",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:27.953498+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLCE1 was added\ngene: PLCE1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLCE1 were set to NEPHROTIC SYNDROME, TYPE 3",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:27.154331+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLA2G6 was added\ngene: PLA2G6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLA2G6 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; INFANTILE NEUROAXONAL DYSTROPHY 1",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:26.352503+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGK1 was added\ngene: PGK1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PGK1 were set to PHOSPHOGLYCERATE KINASE 1 DEFICIENCY",
"entity_name": "PGK1",
"entity_type": "gene"
}
]
}