{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1637","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1635","results":[{"created":"2020-08-27T21:06:39.448012+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GUCY2C was added\ngene: GUCY2C was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GUCY2C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GUCY2C were set to Meconium ileus","entity_name":"GUCY2C","entity_type":"gene"},{"created":"2020-08-27T21:06:39.039695+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GTF2H5 was added\ngene: GTF2H5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GTF2H5 were set to Trichothiodystrophy","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2020-08-27T21:06:38.336183+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GRXCR1 was added\ngene: GRXCR1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GRXCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GRXCR1 were set to Deafness, autosomal recessive","entity_name":"GRXCR1","entity_type":"gene"},{"created":"2020-08-27T21:06:37.843822+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GRIN2A was added\ngene: GRIN2A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GRIN2A were set to Epilepsy with neurodevelopmental defects","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-08-27T21:06:37.429821+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GRHL2 was added\ngene: GRHL2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GRHL2 were set to Hearing loss","entity_name":"GRHL2","entity_type":"gene"},{"created":"2020-08-27T21:06:36.730369+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GPX1 was added\ngene: GPX1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GPX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPX1 were set to Hemolytic anemia due to glutathione peroxidase deficiency","entity_name":"GPX1","entity_type":"gene"},{"created":"2020-08-27T21:06:36.243061+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GPHN was added\ngene: GPHN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPHN were set to Hyperekplexia","entity_name":"GPHN","entity_type":"gene"},{"created":"2020-08-27T21:06:35.544736+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GPC6 was added\ngene: GPC6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPC6 were set to Omodysplasia","entity_name":"GPC6","entity_type":"gene"},{"created":"2020-08-27T21:06:35.130695+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GPC4 was added\ngene: GPC4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GPC4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GPC4 were set to Simpson-Golabi-Behmel syndrome","entity_name":"GPC4","entity_type":"gene"},{"created":"2020-08-27T21:06:34.645351+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GMPPA was added\ngene: GMPPA was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GMPPA were set to Congenital disorder of glycosylation","entity_name":"GMPPA","entity_type":"gene"},{"created":"2020-08-27T21:06:34.227239+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLUL was added\ngene: GLUL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLUL were set to Congenital brain dysgenesis due to glutamine synthetase deficiency","entity_name":"GLUL","entity_type":"gene"},{"created":"2020-08-27T21:06:33.526212+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLRB was added\ngene: GLRB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLRB were set to Hyperekplexia 2, autosomal recessive","entity_name":"GLRB","entity_type":"gene"},{"created":"2020-08-27T21:06:33.042027+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLIS3 was added\ngene: GLIS3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLIS3 were set to Diabetes mellitus, neonatal, with congenital hypothyroidism","entity_name":"GLIS3","entity_type":"gene"},{"created":"2020-08-27T21:06:32.625991+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLI2 was added\ngene: GLI2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GLI2 were set to Holoprosencephaly-9","entity_name":"GLI2","entity_type":"gene"},{"created":"2020-08-27T21:06:31.920892+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLE1 was added\ngene: GLE1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLE1 were set to Lethal arthrogryposis with anterior horn cell disease","entity_name":"GLE1","entity_type":"gene"},{"created":"2020-08-27T21:06:31.439010+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GFER was added\ngene: GFER was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay","entity_name":"GFER","entity_type":"gene"},{"created":"2020-08-27T21:06:30.530085+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Central hypoventilation syndrome for gene: GDNF","entity_name":"GDNF","entity_type":"gene"},{"created":"2020-08-27T21:06:30.071828+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GDNF was added\ngene: GDNF was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GDNF were set to Hirschsprung disease","entity_name":"GDNF","entity_type":"gene"},{"created":"2020-08-27T21:06:29.621894+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GDF1 was added\ngene: GDF1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GDF1 were set to Congenital heart defects","entity_name":"GDF1","entity_type":"gene"},{"created":"2020-08-27T21:06:29.139354+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GCSH was added\ngene: GCSH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCSH were set to Glycine encephalopathy","entity_name":"GCSH","entity_type":"gene"},{"created":"2020-08-27T21:06:28.443967+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GCLC was added\ngene: GCLC was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCLC were set to Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency","entity_name":"GCLC","entity_type":"gene"},{"created":"2020-08-27T21:06:27.754845+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category C gene was added to GBE1.\nSource Expert Review Red was added to GBE1.\nAdded phenotypes Polyglucosan body disease, adult form for gene: GBE1\nRating Changed from Green List (high evidence) to Red List (low evidence)","entity_name":"GBE1","entity_type":"gene"},{"created":"2020-08-27T21:06:27.051980+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GATAD1 was added\ngene: GATAD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GATAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GATAD1 were set to Cardiomyopathy, dilated, 2B","entity_name":"GATAD1","entity_type":"gene"},{"created":"2020-08-27T21:06:26.634556+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GATA6 was added\ngene: GATA6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GATA6 were set to Atrial fibrillation","entity_name":"GATA6","entity_type":"gene"},{"created":"2020-08-27T21:06:26.151937+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GATA5 was added\ngene: GATA5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GATA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GATA5 were set to Familial atrial fibrillation","entity_name":"GATA5","entity_type":"gene"},{"created":"2020-08-27T21:06:25.238922+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category C gene was added to GATA1.\nSource Expert Review Red was added to GATA1.\nAdded phenotypes Porphyria, congenital erythropoietic for gene: GATA1\nRating Changed from Green List (high evidence) to Red List (low evidence)","entity_name":"GATA1","entity_type":"gene"},{"created":"2020-08-27T21:06:24.744870+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GABRG2 was added\ngene: GABRG2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GABRG2 were set to Epilepsy, childhood absence with febrile seizure","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-27T21:06:24.043072+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GABRA1 was added\ngene: GABRA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GABRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GABRA1 were set to Epilepsy, idiopathic generalised","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-08-27T21:06:23.629614+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FTCD was added\ngene: FTCD was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency","entity_name":"FTCD","entity_type":"gene"},{"created":"2020-08-27T21:06:23.140715+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FSCN2 was added\ngene: FSCN2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: FSCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FSCN2 were set to Retinitis pigmentosa","entity_name":"FSCN2","entity_type":"gene"},{"created":"2020-08-27T21:06:22.435527+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FREM2 was added\ngene: FREM2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FREM2 were set to Fraser syndrome","entity_name":"FREM2","entity_type":"gene"},{"created":"2020-08-27T21:06:21.946651+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FREM1 was added\ngene: FREM1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FREM1 were set to Manitoba oculotrichoanal syndrome","entity_name":"FREM1","entity_type":"gene"},{"created":"2020-08-27T21:06:21.437178+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXN1 was added\ngene: FOXN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FOXN1 were set to Congenital alopecia with T-cell immunodeficiency","entity_name":"FOXN1","entity_type":"gene"},{"created":"2020-08-27T21:06:20.948952+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXH1 was added\ngene: FOXH1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: FOXH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FOXH1 were set to Congenital heart defects","entity_name":"FOXH1","entity_type":"gene"},{"created":"2020-08-27T21:06:20.320607+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXF2 was added\ngene: FOXF2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: FOXF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FOXF2 were set to Disorders of sex development with cleft palate","entity_name":"FOXF2","entity_type":"gene"},{"created":"2020-08-27T21:06:19.838678+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXE1 was added\ngene: FOXE1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FOXE1 were set to Bamforth-Lazarus syndrome","entity_name":"FOXE1","entity_type":"gene"},{"created":"2020-08-27T21:06:19.420502+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FMO3 was added\ngene: FMO3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FMO3 were set to Trimethylaminuria","entity_name":"FMO3","entity_type":"gene"},{"created":"2020-08-27T21:06:18.726095+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FLNC was added\ngene: FLNC was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FLNC were set to Myofibrillar myopathy","entity_name":"FLNC","entity_type":"gene"},{"created":"2020-08-27T21:06:18.242133+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FLG was added\ngene: FLG was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FLG were set to Ichthyosis vulgaris","entity_name":"FLG","entity_type":"gene"},{"created":"2020-08-27T21:06:17.829344+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FKBPL was added\ngene: FKBPL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: FKBPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FKBPL were set to Infertility","entity_name":"FKBPL","entity_type":"gene"},{"created":"2020-08-27T21:06:17.133368+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FHL2 was added\ngene: FHL2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: FHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FHL2 were set to Cardiomyopathy, hypertrophic","entity_name":"FHL2","entity_type":"gene"},{"created":"2020-08-27T21:06:16.438337+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category C gene was added to FHL1.\nSource Expert Review Red was added to FHL1.\nAdded phenotypes Myofibrillar myopathy for gene: FHL1\nRating Changed from Green List (high evidence) to Red List (low evidence)","entity_name":"FHL1","entity_type":"gene"},{"created":"2020-08-27T21:06:15.354173+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category C gene was added to FH.\nSource Expert Review Red was added to FH.\nMode of inheritance for gene FH was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Leiomyomatosis and renal cell cancer for gene: FH\nRating Changed from Green List (high evidence) to Red List (low evidence)","entity_name":"FH","entity_type":"gene"},{"created":"2020-08-27T21:06:14.436541+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes LADD syndrome for gene: FGFR3","entity_name":"FGFR3","entity_type":"gene"},{"created":"2020-08-27T21:06:13.660206+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category C gene was added to FGFR3.\nSource Expert Review Red was added to FGFR3.\nAdded phenotypes CATSHL syndrome for gene: FGFR3\nRating Changed from Green List (high evidence) to Red List (low evidence)","entity_name":"FGFR3","entity_type":"gene"},{"created":"2020-08-27T21:06:12.726298+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Shprintzen-Goldberg syndrome for gene: FBN1","entity_name":"FBN1","entity_type":"gene"},{"created":"2020-08-27T21:06:12.033736+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category C gene was added to FBN1.\nSource Expert Review Red was added to FBN1.\nAdded phenotypes Weill-Marchesani syndrome 2, dominant for gene: FBN1\nRating Changed from Green List (high evidence) to Red List (low evidence)","entity_name":"FBN1","entity_type":"gene"},{"created":"2020-08-27T21:06:11.052813+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category C gene was added to FBLN5.\nSource Expert Review Red was added to FBLN5.\nMode of inheritance for gene FBLN5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Age-related macular degeneration for gene: FBLN5\nRating Changed from Green List (high evidence) to Red List (low evidence)","entity_name":"FBLN5","entity_type":"gene"},{"created":"2020-08-27T21:06:10.623118+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCM was added\ngene: FANCM was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCM were set to Fanconi anaemia","entity_name":"FANCM","entity_type":"gene"},{"created":"2020-08-27T21:06:09.921876+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCL was added\ngene: FANCL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCL were set to Fanconi anaemia","entity_name":"FANCL","entity_type":"gene"},{"created":"2020-08-27T21:06:09.442562+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCF was added\ngene: FANCF was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCF were set to Fanconi anaemia","entity_name":"FANCF","entity_type":"gene"},{"created":"2020-08-27T21:06:09.030633+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCE was added\ngene: FANCE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCE were set to Fanconi anaemia","entity_name":"FANCE","entity_type":"gene"},{"created":"2020-08-27T21:06:08.332204+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RETREG1 was added\ngene: RETREG1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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":"2020-08-27T21:06:07.848406+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAM111B was added\ngene: FAM111B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FAM111B were set to Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis","entity_name":"FAM111B","entity_type":"gene"},{"created":"2020-08-27T21:06:07.439260+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAAH2 was added\ngene: FAAH2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: FAAH2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FAAH2 were set to Autism spectrum disorder","entity_name":"FAAH2","entity_type":"gene"},{"created":"2020-08-27T21:06:06.742600+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: F5 was added\ngene: F5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: F5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F5 were set to Risk for deep vein thrombosis","entity_name":"F5","entity_type":"gene"},{"created":"2020-08-27T21:06:06.331309+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ESPN was added\ngene: ESPN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ESPN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ESPN were set to Hearing loss","entity_name":"ESPN","entity_type":"gene"},{"created":"2020-08-27T21:06:05.858956+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERCC4 was added\ngene: ERCC4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC4 were set to Xeroderma pigmentosum","entity_name":"ERCC4","entity_type":"gene"},{"created":"2020-08-27T21:06:05.142565+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERCC3 was added\ngene: ERCC3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC3 were set to Xeroderma pigmentosum","entity_name":"ERCC3","entity_type":"gene"},{"created":"2020-08-27T21:06:04.734565+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERCC1 was added\ngene: ERCC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC1 were set to Xeroderma pigmentosum","entity_name":"ERCC1","entity_type":"gene"},{"created":"2020-08-27T21:06:04.252694+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERBB3 was added\ngene: ERBB3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2","entity_name":"ERBB3","entity_type":"gene"},{"created":"2020-08-27T21:06:03.626315+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EPHX1 was added\ngene: EPHX1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: EPHX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EPHX1 were set to Hypercholanemia, familial","entity_name":"EPHX1","entity_type":"gene"},{"created":"2020-08-27T21:06:03.138348+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EPCAM was added\ngene: EPCAM was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EPCAM were set to Lynch syndrome","entity_name":"EPCAM","entity_type":"gene"},{"created":"2020-08-27T21:06:02.718815+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EPB42 was added\ngene: EPB42 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: EPB42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EPB42 were set to Spherocytosis","entity_name":"EPB42","entity_type":"gene"},{"created":"2020-08-27T21:06:02.018995+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EIF2B1 was added\ngene: EIF2B1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter","entity_name":"EIF2B1","entity_type":"gene"},{"created":"2020-08-27T21:06:01.546354+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EFEMP2 was added\ngene: EFEMP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB","entity_name":"EFEMP2","entity_type":"gene"},{"created":"2020-08-27T21:06:00.542709+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Waardenburg syndrome for gene: EDNRB","entity_name":"EDNRB","entity_type":"gene"},{"created":"2020-08-27T21:06:00.127316+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EDNRB was added\ngene: EDNRB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: EDNRB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EDNRB were set to Hirschsprung disease","entity_name":"EDNRB","entity_type":"gene"},{"created":"2020-08-27T21:05:59.151116+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Waardenburg syndrome for gene: EDN3","entity_name":"EDN3","entity_type":"gene"},{"created":"2020-08-27T21:05:58.729345+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EDN3 was added\ngene: EDN3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: EDN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EDN3 were set to Hirschsprung disease","entity_name":"EDN3","entity_type":"gene"},{"created":"2020-08-27T21:05:58.243402+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ECE1 was added\ngene: ECE1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ECE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ECE1 were set to Hirschsprung disease","entity_name":"ECE1","entity_type":"gene"},{"created":"2020-08-27T21:05:57.541041+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DUOXA2 was added\ngene: DUOXA2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DUOXA2 were set to Thyroid dyshormonogenesis","entity_name":"DUOXA2","entity_type":"gene"},{"created":"2020-08-27T21:05:57.125740+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DTNBP1 was added\ngene: DTNBP1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DTNBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DTNBP1 were set to Hermansky-Pudlak syndrome 7","entity_name":"DTNBP1","entity_type":"gene"},{"created":"2020-08-27T21:05:56.642273+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DTNA was added\ngene: DTNA was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DTNA were set to Left ventricular noncompaction 1","entity_name":"DTNA","entity_type":"gene"},{"created":"2020-08-27T21:05:56.231451+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DTHD1 was added\ngene: DTHD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DTHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DTHD1 were set to Leber congenital amaurosis with myopathy","entity_name":"DTHD1","entity_type":"gene"},{"created":"2020-08-27T21:05:55.534085+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DPYD was added\ngene: DPYD was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency","entity_name":"DPYD","entity_type":"gene"},{"created":"2020-08-27T21:05:55.120672+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DPP6 was added\ngene: DPP6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DPP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DPP6 were set to Ventricular fibrillation, paroxysmal familial, 2","entity_name":"DPP6","entity_type":"gene"},{"created":"2020-08-27T21:05:54.641601+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DPM1 was added\ngene: DPM1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie","entity_name":"DPM1","entity_type":"gene"},{"created":"2020-08-27T21:05:53.942048+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DOLK was added\ngene: DOLK was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-08-27T21:05:53.535356+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAL1 was added\ngene: DNAL1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAL1 were set to Primary ciliary dyskinesia","entity_name":"DNAL1","entity_type":"gene"},{"created":"2020-08-27T21:05:53.121992+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAJC5 was added\ngene: DNAJC5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DNAJC5 were set to Neuronal ceroid lipofuscinosis, adult-onset","entity_name":"DNAJC5","entity_type":"gene"},{"created":"2020-08-27T21:05:52.425822+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAJC19 was added\ngene: DNAJC19 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2020-08-27T21:05:51.937571+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAI2 was added\ngene: DNAI2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAI2 were set to Primary ciliary dyskinesia","entity_name":"DNAI2","entity_type":"gene"},{"created":"2020-08-27T21:05:51.530563+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAAF3 was added\ngene: DNAAF3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF3 were set to Primary ciliary dyskinesia","entity_name":"DNAAF3","entity_type":"gene"},{"created":"2020-08-27T21:05:50.833106+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAAF2 was added\ngene: DNAAF2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF2 were set to Primary ciliary dyskinesia","entity_name":"DNAAF2","entity_type":"gene"},{"created":"2020-08-27T21:05:50.346637+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DLC1 was added\ngene: DLC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DLC1 were set to Congenital heart disease","entity_name":"DLC1","entity_type":"gene"},{"created":"2020-08-27T21:05:49.938973+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DIAPH1 was added\ngene: DIAPH1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DIAPH1 were set to Hearing loss","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2020-08-27T21:05:49.243581+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DIABLO was added\ngene: DIABLO was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DIABLO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DIABLO were set to Deafness, autosomal dominant","entity_name":"DIABLO","entity_type":"gene"},{"created":"2020-08-27T21:05:48.833662+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DHCR24 was added\ngene: DHCR24 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHCR24 were set to Desmosterolosis","entity_name":"DHCR24","entity_type":"gene"},{"created":"2020-08-27T21:05:48.417448+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DGKE was added\ngene: DGKE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DGKE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DGKE were set to Haemolytic uraemic syndrome, atypical","entity_name":"DGKE","entity_type":"gene"},{"created":"2020-08-27T21:05:47.720582+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WHRN was added\ngene: WHRN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WHRN were set to Hearing loss","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-08-27T21:05:47.242543+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DECR1 was added\ngene: DECR1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DECR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DECR1 were set to 2,4-Dienoyl-CoA reductase deficiency","entity_name":"DECR1","entity_type":"gene"},{"created":"2020-08-27T21:05:46.829681+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DDR2 was added\ngene: DDR2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDR2 were set to Spondylometaepiphyseal dysplasia, short limb-hand type","entity_name":"DDR2","entity_type":"gene"},{"created":"2020-08-27T21:05:46.120636+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DDOST was added\ngene: DDOST was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDOST were set to Congenital disorder of glycosylation, type Ir","entity_name":"DDOST","entity_type":"gene"},{"created":"2020-08-27T21:05:45.637123+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DDHD1 was added\ngene: DDHD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDHD1 were set to Spastic paraplegia","entity_name":"DDHD1","entity_type":"gene"},{"created":"2020-08-27T21:05:44.732528+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category C gene was added to DCX.\nSource Expert Review Red was added to DCX.\nAdded phenotypes Lennox-Gastaut syndrome for gene: DCX\nRating Changed from Green List (high evidence) to Red List (low evidence)","entity_name":"DCX","entity_type":"gene"},{"created":"2020-08-27T21:05:44.241158+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DCTN1 was added\ngene: DCTN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DCTN1 were set to Amyotrophic lateral sclerosis","entity_name":"DCTN1","entity_type":"gene"},{"created":"2020-08-27T21:05:43.832577+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DBH was added\ngene: DBH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DBH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DBH were set to Dopamine beta-hydroxylase deficiency","entity_name":"DBH","entity_type":"gene"},{"created":"2020-08-27T21:05:43.140936+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DAPK3 was added\ngene: DAPK3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DAPK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DAPK3 were set to Congenital heart disease","entity_name":"DAPK3","entity_type":"gene"},{"created":"2020-08-27T21:05:42.728856+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DAG1 was added\ngene: DAG1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9","entity_name":"DAG1","entity_type":"gene"}]}