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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1265",
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{
"created": "2021-07-19T18:37:17.124209+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHD7 was added\ngene: CHD7 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHD7 were set to 16400610\nPhenotypes for gene: CHD7 were set to CHARGE syndrome, 214800; CHARGE syndrome - ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.078894+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CENPJ was added\ngene: CENPJ was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CENPJ were set to 20522431\nPhenotypes for gene: CENPJ were set to seckel syndrome",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.034416+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDT1 was added\ngene: CDT1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDT1 were set to 21358632\nPhenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4, 613804; micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia; Meier-Gorlin",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.989428+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDC6 was added\ngene: CDC6 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDC6 were set to 21358632\nPhenotypes for gene: CDC6 were set to patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia; ?Meier-Gorlin syndrome 5, 613805",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.945501+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BTK was added\ngene: BTK was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: BTK was set to Unknown",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.900851+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATRX was added\ngene: ATRX was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: ATRX was set to Unknown\nPhenotypes for gene: ATRX were set to SGA, which is sometimes called intrauterine growth restriction (IUGR),",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.856732+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATRIP was added\ngene: ATRIP was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: ATRIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATRIP were set to 23144622\nPhenotypes for gene: ATRIP were set to microcephaly, micrognathia, small ear lobes, dental crowding",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.812569+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZFP57 was added\ngene: ZFP57 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFP57 were set to 18622393\nPhenotypes for gene: ZFP57 were set to diabetes mellitus, transient neonatal, 1MONDO:0011073; Diabetes mellitus, transient neonatal 1 OMIM:601410; IUGR; Multi Locus Imprinting Disturbance",
"entity_name": "ZFP57",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.769176+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNPC3 was added\ngene: RNPC3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNPC3 were set to 32462814; 29866761; 24480542\nPhenotypes for gene: RNPC3 were set to ?Growth hormone deficiency, isolated, type V, 618160; isolated growth hormone deficiency",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.725942+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAP1B was added\ngene: RAP1B was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RAP1B were set to 26280580; 32627184\nPhenotypes for gene: RAP1B were set to short stature; Syndromic intellectual disability",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.681505+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLK4 was added\ngene: PLK4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLK4 were set to 27650967; 25320347; 25344692\nPhenotypes for gene: PLK4 were set to microcephaly and chorioretinopathy 2, MONDO:0014516; Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.638671+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PADI6 was added\ngene: PADI6 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: PADI6 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: PADI6 were set to 33221824; 32928291; 29574422\nPhenotypes for gene: PADI6 were set to miscarriages in the family; Preimplantation embryonic lethality 2 OMIM:617234; Short stature; preimplantation embryonic lethality 2 MONDO:0014978; Multi Locus Imprinting Disturbance; IUGR; Beckwith-Wiedemann syndrome",
"entity_name": "PADI6",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.593012+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NLRP7 was added\ngene: NLRP7 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: NLRP7 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: NLRP7 were set to 28561018\nPhenotypes for gene: NLRP7 were set to hydatidiform mole, recurrent, 1 MONDO:0009273; Short stature; fetal wastage; Hydatidiform mole, recurrent, 1\tOMIM:231090; IUGR; Multi Locus Imprinting Disturbance",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.549563+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NLRP5 was added\ngene: NLRP5 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: NLRP5 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: NLRP5 were set to 26323243; 29574422\nPhenotypes for gene: NLRP5 were set to body asymmetry; Short stature; Failure to thrive; multilocus imprinting disturbances; IUGR",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.506538+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NLRP2 was added\ngene: NLRP2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: NLRP2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: NLRP2 were set to 30877238; 33090377; 29574422; 26323243; 19300480\nPhenotypes for gene: NLRP2 were set to Maternal effect gene- causing phenotypes that include IUGR",
"entity_name": "NLRP2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.463062+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NHLRC2 was added\ngene: NHLRC2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NHLRC2 were set to 29423877; 32435055\nPhenotypes for gene: NHLRC2 were set to FINCA syndrome OMIM:618278",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.419296+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NBAS was added\ngene: NBAS was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NBAS were set to 31761904\nPhenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.374814+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTX2 was added\ngene: MTX2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTX2 were set to 32917887\nPhenotypes for gene: MTX2 were set to Mandibuloacral dysplasia; growth retardation; arterial calcification; lipodystrophy",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.330449+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MSTO1 was added\ngene: MSTO1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MSTO1 were set to 29339779; 28554942; 31604776; 28544275; 31130378\nPhenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, OMIM:617675",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.285707+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDM3B was added\ngene: KDM3B was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KDM3B were set to 30929739\nPhenotypes for gene: KDM3B were set to Behavioral abnormality; Seizures; Global developmental delay; Short stature; Intellectual disability",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.242716+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INTS1 was added\ngene: INTS1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTS1 were set to 28542170; 31428919; 30622326\nPhenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.200651+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXP4 was added\ngene: FOXP4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FOXP4 were set to 33110267\nPhenotypes for gene: FOXP4 were set to Neurodevelopmental disorder; multiple congenital abnormalities",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.148796+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG4 was added\ngene: COG4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: COG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: COG4 were set to 30290151; 31949312\nPhenotypes for gene: COG4 were set to microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407; Saul-Wilson syndrome, OMIM:618150\nMode of pathogenicity for gene: COG4 was set to Other",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.097796+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP57 was added\ngene: CEP57 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP57 were set to 24259107; 21552266\nPhenotypes for gene: CEP57 were set to Mosaic variegated aneuploidy syndrome 2, 614114",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.054889+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC186 was added\ngene: CCDC186 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: CCDC186 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC186 were set to 33259146; 28600779\nPhenotypes for gene: CCDC186 were set to failure to thrive and developmental delay",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:16.011947+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANAPC1 was added\ngene: ANAPC1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANAPC1 were set to 31303264\nPhenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.954688+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBE2T was added\ngene: UBE2T was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBE2T were set to 26046368\nPhenotypes for gene: UBE2T were set to Falcon anemia; 616435 Fanconi anemia, complementation group T; Fanconi anemia, complementation group T, 616435",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.895089+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIM37 was added\ngene: TRIM37 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIM37 were set to Mulibrey nanism; Mulibery Nanism, 253250",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.833549+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TOP3A was added\ngene: TOP3A was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TOP3A were set to Microcephaly, growth restriction, and increased sister chromatid exchange 2; MGRISCE2 (Bloom-like syndrome) 618097; 618097 MGRISCE2 (Bloom-like syndrome)",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.780790+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SRCAP was added\ngene: SRCAP was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SRCAP were set to Floating-Harbor syndrome, 136140; Floating Harbor",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.726669+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOS2 was added\ngene: SOS2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SOS2 were set to 25795793; 26173643\nPhenotypes for gene: SOS2 were set to Noonan syndrome 9\nMode of pathogenicity for gene: SOS2 was set to Other - please provide details in the comments",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.670304+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOS1 was added\ngene: SOS1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOS1 were set to 17143285; 17586837; 17143282; 19438935\nPhenotypes for gene: SOS1 were set to Noonan syndrome; Rasopathy; Noonan syndrome 4\nMode of pathogenicity for gene: SOS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.623128+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLX4 was added\ngene: SLX4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLX4 were set to 21240275; 21240277\nPhenotypes for gene: SLX4 were set to 613951 Fanconi Anemia Fanconi anemia, complementation group P; Fanconi anemia, complementation group P, 613951; Fanconi Anemia",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.562123+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHOC2 was added\ngene: SHOC2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SHOC2 were set to 23918763; 19684605; 22528146\nPhenotypes for gene: SHOC2 were set to Noonan with loss of anagen hair; Noonan-like syndrome with loose anagen hair\nMode of pathogenicity for gene: SHOC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.519738+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RIT1 was added\ngene: RIT1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RIT1 were set to 24939608; 25124994; 23791108\nPhenotypes for gene: RIT1 were set to Rasopathy; Noonan syndrome type 8; Noonan syndrome 8\nMode of pathogenicity for gene: RIT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.476046+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAF1 was added\ngene: RAF1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAF1 were set to 17603483; 17603482\nPhenotypes for gene: RAF1 were set to Noonan syndrome 5; Noonan syndrome; LEOPARD syndrome 2; Rasopathy; LEOPARD syndrome\nMode of pathogenicity for gene: RAF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.433969+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTPN11 was added\ngene: PTPN11 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTPN11 were set to 16263833; 17603483; 17497712; 12634870; 11704759; 18678287; 15384080; 15240615; 12529711\nPhenotypes for gene: PTPN11 were set to Noonan syndrome; LEOPARD syndrome 1; Noonan syndrome 1; LEOPARD syndrome\nMode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.392082+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPP1CB was added\ngene: PPP1CB was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PPP1CB were set to 27264673; 27681385; 28211982\nPhenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2, 617506; Rasopathy with developmental delay, short stature and sparse slow-growing hair",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.345925+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLAG1 was added\ngene: PLAG1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLAG1 were set to 28796236\nPhenotypes for gene: PLAG1 were set to SRS; Silver-Russell syndrome",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.302759+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3R1 was added\ngene: PIK3R1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIK3R1 were set to SHORT syndrome, 269880; SHORT",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.260718+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PALB2 was added\ngene: PALB2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PALB2 were set to 17200672; 17200671\nPhenotypes for gene: PALB2 were set to Fanconi anemia, complementation group N, 610832; 610832 Fanconi anemia, complementation group N",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.219812+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OBSL1 was added\ngene: OBSL1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OBSL1 were set to 21737058\nPhenotypes for gene: OBSL1 were set to 3M; 3-M syndrome 2, 612921",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.174361+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NRAS was added\ngene: NRAS was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NRAS were set to 19966803; 19775298\nPhenotypes for gene: NRAS were set to Cardio-Facio-cutanenous syndrome; A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.); Noonan syndrome; CFC Syndrome; Noonan syndrome 6\nMode of pathogenicity for gene: NRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.126052+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NBN was added\ngene: NBN was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NBN were set to Nijmegen; Nijmegen breakage syndrome, 251260",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.084123+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP2K2 was added\ngene: MAP2K2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP2K2 were set to 16439621; 21396583; 23379592\nPhenotypes for gene: MAP2K2 were set to CFC syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome; Cardiofaciocutaneous syndrome 4; Cardio-Facio-Cutaneous syndrome; Cardio-Facio-Cutaneous syndrome type 4\nMode of pathogenicity for gene: MAP2K2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:15.041159+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP2K1 was added\ngene: MAP2K1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP2K1 were set to 23321623; 16439621; 21396583; 16825433\nPhenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome 3; CFC syndrome; ?Noonan syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome; Cardio-Facio-Cutaneous syndrome; LEOPARD syndrome\nMode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.990107+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LZTR1 was added\ngene: LZTR1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: LZTR1 were set to 29469822; 25795793\nPhenotypes for gene: LZTR1 were set to increased nuchal translucency; Prenatal hydrops; cardiac findings; Noonan syndrome 10",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.946665+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRAS was added\ngene: KRAS was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRAS were set to 21396583\nPhenotypes for gene: KRAS were set to Noonan syndrome 3; CFC syndrome; Cardiofaciocutaneous syndrome 2; Cardiofaciocutaneous Syndrome; Noonan syndrome; Rasopathy; Cardio-Facio-Cutaneous syndrome\nMode of pathogenicity for gene: KRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.902082+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGF2 was added\ngene: IGF2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: IGF2 were set to 26154720\nPhenotypes for gene: IGF2 were set to Pre- and post-natal growth failure; SRS; ?Growth restriction, severe, with distinctive facies, 616489; Silver-Russell phenptype; IUGR",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.861361+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGF1R was added\ngene: IGF1R was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: IGF1R were set to 15q-Del; Insulin likegrowthfactorI,resistanceto,270450; Insulin-Like Growth Factor I Resistance",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.820157+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGF1 was added\ngene: IGF1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGF1 were set to Insulin-Like Growth Factor I Deficiency; Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747; IGF1",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.778051+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HRAS was added\ngene: HRAS was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HRAS were set to 16969868; 16443854; 21396583; 16170316\nPhenotypes for gene: HRAS were set to Costello syndrome, 218040; Costello; Costello syndrome\nMode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.737960+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HMGA2 was added\ngene: HMGA2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: HMGA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HMGA2 were set to 29655892\nPhenotypes for gene: HMGA2 were set to Silver-Russell syndrome 5, MONDO:0020795; Silver-Russell syndrome 5, OMIM:618908",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.693369+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGFR3 was added\ngene: FGFR3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FGFR3 were set to Hypochondroplasia, 146000",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.652438+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCL was added\ngene: FANCL was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCL were set to 25754594; 12724401; 19405097; 12973351; 16474160\nPhenotypes for gene: FANCL were set to Fanconi anemia; 614083Fanconi anemia, complementation group L; Fanconi anemia, complementation group L, 614083; Fanconi Anemia",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.612642+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCI was added\ngene: FANCI was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCI were set to 17452773; 11239453\nPhenotypes for gene: FANCI were set to 609053 Fanconi anemia, complementation group I; Fanconi anemia; Fanconi anemia, complementation group I, 609053; Fanconi Anemia",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.566336+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCG was added\ngene: FANCG was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCG were set to 16493006; 9806548\nPhenotypes for gene: FANCG were set to 614082 Fanconi anemia, complementation group G; hypogonadism and reduced fertility; Fanconi Anemia; bone marrow failure; a typical facial appearance with small head, eyes, and mouth; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; Fanconi anemia; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi anemia, complementation group G, 614082; Fanconi anemia complementation group G; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); pre- and postnatal growth retardation",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.524753+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCF was added\ngene: FANCF was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCF were set to 10615118\nPhenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, 603467; Fanconi anemia; 603467 Fanconi anemia, complementation group F; Fanconi Anemia",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.484449+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCE was added\ngene: FANCE was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCE were set to 7662964; 10205272; 9147877; 9382107\nPhenotypes for gene: FANCE were set to Fanconi anemia; Fanconi anemia, complementation group E, 600901; 600901 Fanconi anemia, complementation group E; Fanconi Anemia",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.440895+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCD2 was added\ngene: FANCD2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCD2 were set to 11239454\nPhenotypes for gene: FANCD2 were set to Fanconi anemia; 227646 Fanconi anemia, complementation group D2; Fanconi anemia, complementation group D2, 227646; Fanconi Anemia",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.401511+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCC was added\ngene: FANCC was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCC were set to 16493006; 1574115\nPhenotypes for gene: FANCC were set to hypogonadism and reduced fertility; Fanconi Anemia; bone marrow failure; a typical facial appearance with small head, eyes, and mouth; Fanconi anemia, complementation group C, 227645; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; Fanconi anemia; and susceptibility to cancer, predominantly acute myeloid leukemia.; 227645 Fanconi anemia, complementation group C; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); pre- and postnatal growth retardation",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.362041+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCB was added\ngene: FANCB was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: FANCB 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: FANCB were set to Fanconi anemia, complementation group B, 300514; Falcon anemia; VACTERL Association with Hydrocephalus; Fanconi Anaemia; Fanconi Anemia Type B; 300514 Fanconi anemia, complementation group B; Fanconi anemia; Fanconi Anemia, X-Linked",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.322332+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCA was added\ngene: FANCA was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCA were set to 16493006; 8896563\nPhenotypes for gene: FANCA were set to hypogonadism and reduced fertility; Fanconi Anemia; bone marrow failure; a typical facial appearance with small head, eyes, and mouth; 227650 Fanconi anemia complementation group A; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; Fanconi anemia; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi anemia, complementation group A, 227650; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); pre- and postnatal growth retardation",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.279736+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC4 was added\ngene: ERCC4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC4 were set to 23623386; 23623389; 24027083\nPhenotypes for gene: ERCC4 were set to 615272 Fanconi anemia, complementation group Q; Fanconi anemia, complementation group Q, 615272",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.240451+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CUL7 was added\ngene: CUL7 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CUL7 were set to 3M; 3-M syndrome 1, 273750",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.201373+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDKN1C was added\ngene: CDKN1C was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPhenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, 130650; Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies; SRS/BWS",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.158356+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC8 was added\ngene: CCDC8 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC8 were set to 21737058\nPhenotypes for gene: CCDC8 were set to 3M; 3-M syndrome 3, 614205",
"entity_name": "CCDC8",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.112251+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CBL was added\ngene: CBL was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CBL were set to 20619386; 20543203; 19571318\nPhenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA\nMode of pathogenicity for gene: CBL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.068424+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRIP1 was added\ngene: BRIP1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRIP1 were set to 14630800; 16153896; 16116424; 16116423\nPhenotypes for gene: BRIP1 were set to Fanconi anemia, complementation group J, 609054; 609054 Fanconi anemia, complementation group J",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:14.029072+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRCA2 was added\ngene: BRCA2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRCA2 were set to 24395671; 11239453; 14670928; 12065746; 28185119\nPhenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1, 605724; 605724 Fanconi anemia, complementation group D1",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:13.984439+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRAF was added\ngene: BRAF was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BRAF were set to 16474404; 21396583; 16825433; 19206169\nPhenotypes for gene: BRAF were set to Noonan Syndrome; LEOPARD Syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome; Cardio-facio-cutaneous syndrome; LEOPARD syndrome 3\nMode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:13.943901+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BLM was added\ngene: BLM was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BLM were set to Bloom syndrome, 210900; 210900 Bloom syndrome; Bloom",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:13.901263+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANKRD11 was added\ngene: ANKRD11 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANKRD11 were set to 21782149\nPhenotypes for gene: ANKRD11 were set to KBG syndrome, 148050; KBG",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:13.860446+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACAN was added\ngene: ACAN was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ACAN were set to 24762113; 27870580\nPhenotypes for gene: ACAN were set to Spondyloepimetaphyseal dysplasia, aggrecan type (AR), 612813; ?Spondyloepiphyseal dysplasia, Kimberley type (AD), 608361; short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (AD), 165800",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:13.834318+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel Growth failure in early childhood",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-07-19T13:58:44.122285+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8445",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SYP: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 23966691, 19377476; Phenotypes: Mental retardation, X-linked 96 MIM#300802; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SYP",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:42:57.921593+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZIC3 as ready",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:42:57.910909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic3 has been classified as Green List (High Evidence).",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:42:50.057349+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZIC3 were changed from to Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955); Heterotaxy, visceral, 1, X-linked (MIM#306955); VACTERL association, X-linked, MIM# 314390",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:42:29.668524+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZIC3 were set to ",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:42:06.732038+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZIC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:41:44.223917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZIC3: Changed phenotypes: Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955), Heterotaxy, visceral, 1, X-linked (MIM#306955), VACTERL association, X-linked, MIM# 314390",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:41:22.831111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: This gene belongs on the Heterotaxy panel.; to: Well established gene-disease associations.",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:41:04.143490+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZIC3: Changed rating: GREEN",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:40:26.843552+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS13B as ready",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:40:26.828408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13b has been classified as Green List (High Evidence).",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:40:18.879896+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS13B were changed from to Cohen syndrome, MIM# 216550",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:39:58.678288+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:39:40.868573+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cohen syndrome, MIM# 216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:39:09.893127+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:38:35.840689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TULP1 as ready",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:38:35.828431+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tulp1 has been classified as Green List (High Evidence).",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:38:27.746125+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TULP1 were changed from to Retinitis pigmentosa 14 M(MIM#600132); Leber congenital amaurosis 15, MIM# 613843",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:38:04.708294+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TULP1 were set to ",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:37:37.387953+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TULP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:37:17.097153+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: TULP1: Several families also reported with LCA.",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:37:03.152091+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TULP1: Changed publications: 15024725",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:36:39.277782+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TULP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis 15, MIM# 613843; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:35:48.923549+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOPORS as ready",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:35:48.913926+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: topors has been classified as Green List (High Evidence).",
"entity_name": "TOPORS",
"entity_type": "gene"
}
]
}