{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=766","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=764","results":[{"created":"2022-09-19T07:25:13.822657+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EDA was added\ngene: EDA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic","entity_name":"EDA","entity_type":"gene"},{"created":"2022-09-19T07:25:13.696533+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DYSF was added\ngene: DYSF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYSF were set to Miyoshi muscular dystrophy 1; Muscular dystrophy, limb-girdle, type 2B","entity_name":"DYSF","entity_type":"gene"},{"created":"2022-09-19T07:25:13.504503+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DUOXA2 was added\ngene: DUOXA2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DUOXA2 were set to Thyroid dyshormonogenesis 5, MIM# 274900","entity_name":"DUOXA2","entity_type":"gene"},{"created":"2022-09-19T07:25:13.319410+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DUOX2 was added\ngene: DUOX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis","entity_name":"DUOX2","entity_type":"gene"},{"created":"2022-09-19T07:25:13.192079+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DSP was added\ngene: DSP was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: DSP were set to Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM#\t605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis\t, MIM#615821","entity_name":"DSP","entity_type":"gene"},{"created":"2022-09-19T07:25:13.009555+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DPAGT1 was added\ngene: DPAGT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij, MIM#614750","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2022-09-19T07:25:12.811331+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DOLK was added\ngene: DOLK was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DOLK were set to 30653653; 22242004; 23890587; 17273964; 28816422; 24144945\nPhenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im, MIM# 610768; DK1-CDG, MONDO:0012556","entity_name":"DOLK","entity_type":"gene"},{"created":"2022-09-19T07:25:08.515435+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DOK7 was added\ngene: DOK7 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOK7 were set to Congenital myasthenic syndrome, MIM# 254300","entity_name":"DOK7","entity_type":"gene"},{"created":"2022-09-19T07:25:08.311170+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DOCK8 was added\ngene: DOCK8 was added to gNBS. Sources: Expert Review Green,BabySeq Category A gene,BegniNGS\nMode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK8 were set to Hyper-IgE syndrome, MIM#243700","entity_name":"DOCK8","entity_type":"gene"},{"created":"2022-09-19T07:25:08.113138+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNMT3B was added\ngene: DNMT3B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2022-09-19T07:25:07.923134+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNM2 was added\ngene: DNM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, axonal, type 2M; Myopathy, centronuclear","entity_name":"DNM2","entity_type":"gene"},{"created":"2022-09-19T07:25:07.790003+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAJB6 was added\ngene: DNAJB6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DNAJB6 were set to Muscular dystrophy, limb girdle","entity_name":"DNAJB6","entity_type":"gene"},{"created":"2022-09-19T07:25:07.592405+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAI1 was added\ngene: DNAI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAI1 were set to Primary ciliary dyskinesia","entity_name":"DNAI1","entity_type":"gene"},{"created":"2022-09-19T07:25:07.409727+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAH5 was added\ngene: DNAH5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAH5 were set to Primary ciliary dyskinesia","entity_name":"DNAH5","entity_type":"gene"},{"created":"2022-09-19T07:25:07.224376+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAH11 was added\ngene: DNAH11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia","entity_name":"DNAH11","entity_type":"gene"},{"created":"2022-09-19T07:25:07.028783+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAAF1 was added\ngene: DNAAF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia","entity_name":"DNAAF1","entity_type":"gene"},{"created":"2022-09-19T07:25:06.898918+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DMXL2 was added\ngene: DMXL2 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DMXL2 were set to Developmental and epileptic encephalopathy 81, MIM#618663","entity_name":"DMXL2","entity_type":"gene"},{"created":"2022-09-19T07:25:06.711809+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DMPK was added\ngene: DMPK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DMPK were set to Myotonic dystrophy 1","entity_name":"DMPK","entity_type":"gene"},{"created":"2022-09-19T07:25:06.549875+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DMP1 was added\ngene: DMP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DMP1 were set to Hypophosphatemic rickets, AR","entity_name":"DMP1","entity_type":"gene"},{"created":"2022-09-19T07:25:06.326361+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DMD was added\ngene: DMD was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DMD were set to Duchenne muscular dystrophy, MIM#\t310200","entity_name":"DMD","entity_type":"gene"},{"created":"2022-09-19T07:25:06.123525+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DLL3 was added\ngene: DLL3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLL3 were set to Spondylocostal dysostosis, autosomal recessive, 1","entity_name":"DLL3","entity_type":"gene"},{"created":"2022-09-19T07:25:05.989638+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DLD was added\ngene: DLD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLD were set to Maple syrup urine disease, type III, MIM#246900","entity_name":"DLD","entity_type":"gene"},{"created":"2022-09-19T07:25:05.796580+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DKC1 was added\ngene: DKC1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, MIM#\t305000","entity_name":"DKC1","entity_type":"gene"},{"created":"2022-09-19T07:25:05.607832+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DIAPH1 was added\ngene: DIAPH1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DIAPH1 were set to Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2022-09-19T07:25:05.409139+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DHCR7 was added\ngene: DHCR7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome","entity_name":"DHCR7","entity_type":"gene"},{"created":"2022-09-19T07:25:05.221572+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DGUOK was added\ngene: DGUOK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome","entity_name":"DGUOK","entity_type":"gene"},{"created":"2022-09-19T07:25:05.091153+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DGAT1 was added\ngene: DGAT1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DGAT1 were set to Diarrhea 7, protein-losing enteropathy type , MIM#\t615863","entity_name":"DGAT1","entity_type":"gene"},{"created":"2022-09-19T07:25:04.899024+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DFNB59 was added\ngene: DFNB59 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DFNB59 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DFNB59 were set to Hearing loss","entity_name":"DFNB59","entity_type":"gene"},{"created":"2022-09-19T07:25:04.731123+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DFNA5 was added\ngene: DFNA5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DFNA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DFNA5 were set to Hearing loss","entity_name":"DFNA5","entity_type":"gene"},{"created":"2022-09-19T07:25:04.544342+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DDC was added\ngene: DDC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, MIM#608643","entity_name":"DDC","entity_type":"gene"},{"created":"2022-09-19T07:25:04.333718+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DDB2 was added\ngene: DDB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDB2 were set to Xeroderma pigmentosum","entity_name":"DDB2","entity_type":"gene"},{"created":"2022-09-19T07:25:04.194056+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DCX was added\ngene: DCX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DCX were set to Lissencephaly, X-linked, MIM# 300067","entity_name":"DCX","entity_type":"gene"},{"created":"2022-09-19T07:25:04.000940+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DCLRE1C was added\ngene: DCLRE1C was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type, MIM#603554","entity_name":"DCLRE1C","entity_type":"gene"},{"created":"2022-09-19T07:25:03.820155+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DBT was added\ngene: DBT was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DBT were set to Maple syrup urine disease, MIM#248600","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-19T07:25:03.616106+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: D2HGDH was added\ngene: D2HGDH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria","entity_name":"D2HGDH","entity_type":"gene"},{"created":"2022-09-19T07:25:03.494179+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYP4F22 was added\ngene: CYP4F22 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive","entity_name":"CYP4F22","entity_type":"gene"},{"created":"2022-09-19T07:25:03.305249+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYP27B1 was added\ngene: CYP27B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I","entity_name":"CYP27B1","entity_type":"gene"},{"created":"2022-09-19T07:25:03.140554+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYP27A1 was added\ngene: CYP27A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2022-09-19T07:25:02.931383+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYP21A2 was added\ngene: CYP21A2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM#201910","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2022-09-19T07:25:02.741352+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYP17A1 was added\ngene: CYP17A1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP17A1 were set to 17,20-lyase deficiency, isolated\t, MIM#202110","entity_name":"CYP17A1","entity_type":"gene"},{"created":"2022-09-19T07:25:02.587629+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYP11B2 was added\ngene: CYP11B2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency, MIM#\t203400; Hypoaldosteronism, congenital, due to CMO II deficiency, MIM#\t610600","entity_name":"CYP11B2","entity_type":"gene"},{"created":"2022-09-19T07:25:02.388655+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYP11B1 was added\ngene: CYP11B1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM#202010","entity_name":"CYP11B1","entity_type":"gene"},{"created":"2022-09-19T07:25:02.176858+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYP11A1 was added\ngene: CYP11A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM#613743","entity_name":"CYP11A1","entity_type":"gene"},{"created":"2022-09-19T07:25:01.916979+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYBB was added\ngene: CYBB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CYBB were set to Chronic granulomatous disease, MIM#306400","entity_name":"CYBB","entity_type":"gene"},{"created":"2022-09-19T07:25:01.766581+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYBA was added\ngene: CYBA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYBA were set to Chronic granulomatous disease, MIM#233690","entity_name":"CYBA","entity_type":"gene"},{"created":"2022-09-19T07:25:01.393095+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CXCR4 was added\ngene: CXCR4 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CXCR4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CXCR4 were set to WHIM syndrome 1, MIM#\t193670","entity_name":"CXCR4","entity_type":"gene"},{"created":"2022-09-19T07:25:01.194855+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CUL7 was added\ngene: CUL7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CUL7 were set to 3-M syndrome","entity_name":"CUL7","entity_type":"gene"},{"created":"2022-09-19T07:25:01.000811+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CUBN was added\ngene: CUBN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CUBN were set to Megaloblastic anaemia-1, Finnish type, MIM#261100","entity_name":"CUBN","entity_type":"gene"},{"created":"2022-09-19T07:25:00.806455+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CTSK was added\ngene: CTSK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSK were set to Pycnodysostosis","entity_name":"CTSK","entity_type":"gene"},{"created":"2022-09-19T07:25:00.613229+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CTSD was added\ngene: CTSD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10","entity_name":"CTSD","entity_type":"gene"},{"created":"2022-09-19T07:25:00.488046+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CTPS1 was added\ngene: CTPS1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTPS1 were set to Immunodeficiency 24, MIM#\t615897","entity_name":"CTPS1","entity_type":"gene"},{"created":"2022-09-19T07:25:00.298210+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CTNS was added\ngene: CTNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTNS were set to Cystinosis","entity_name":"CTNS","entity_type":"gene"},{"created":"2022-09-19T07:25:00.103480+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CTC1 was added\ngene: CTC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTC1 were set to Coats plus syndrome","entity_name":"CTC1","entity_type":"gene"},{"created":"2022-09-19T07:24:59.919440+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CSTB was added\ngene: CSTB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A","entity_name":"CSTB","entity_type":"gene"},{"created":"2022-09-19T07:24:59.804484+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CSF3R was added\ngene: CSF3R was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CSF3R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CSF3R were set to Neutropenia, severe congenital, 7, autosomal recessive\t, MIM#617014; Neutrophilia, hereditary , MIM#\t162830","entity_name":"CSF3R","entity_type":"gene"},{"created":"2022-09-19T07:24:59.612712+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CSF2RA was added\ngene: CSF2RA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CSF2RA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSF2RA were set to 25425184; 18955570; 20622029\nPhenotypes for gene: CSF2RA were set to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770","entity_name":"CSF2RA","entity_type":"gene"},{"created":"2022-09-19T07:24:59.435091+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CRTAP was added\ngene: CRTAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII","entity_name":"CRTAP","entity_type":"gene"},{"created":"2022-09-19T07:24:59.305558+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CRLF1 was added\ngene: CRLF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRLF1 were set to Crisponi syndrome","entity_name":"CRLF1","entity_type":"gene"},{"created":"2022-09-19T07:24:59.123644+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CREBBP was added\ngene: CREBBP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome","entity_name":"CREBBP","entity_type":"gene"},{"created":"2022-09-19T07:24:58.988794+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CPT2 was added\ngene: CPT2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPT2 were set to Carnitine palmitoyltransferase 2 deficiency","entity_name":"CPT2","entity_type":"gene"},{"created":"2022-09-19T07:24:58.802321+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CPT1A was added\ngene: CPT1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPT1A were set to Carnitine palmitoyltransferase I deficiency, MIM#255120","entity_name":"CPT1A","entity_type":"gene"},{"created":"2022-09-19T07:24:58.618101+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CPS1 was added\ngene: CPS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency, MIM#237300","entity_name":"CPS1","entity_type":"gene"},{"created":"2022-09-19T07:24:58.493737+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CPOX was added\ngene: CPOX was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CPOX were set to Coproporphyria\t, MIM#121300","entity_name":"CPOX","entity_type":"gene"},{"created":"2022-09-19T07:24:58.303446+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COQ9 was added\ngene: COQ9 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5\t, MIM#614654","entity_name":"COQ9","entity_type":"gene"},{"created":"2022-09-19T07:24:58.188594+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COQ8B was added\ngene: COQ8B was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9, MIM#\t615573","entity_name":"COQ8B","entity_type":"gene"},{"created":"2022-09-19T07:24:58.001049+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COQ8A was added\ngene: COQ8A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, MIM#\t612016","entity_name":"COQ8A","entity_type":"gene"},{"created":"2022-09-19T07:24:57.831353+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COQ7 was added\ngene: COQ7 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8, MIM# \t616733","entity_name":"COQ7","entity_type":"gene"},{"created":"2022-09-19T07:24:57.699059+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COQ6 was added\ngene: COQ6 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, MIM#\t614650","entity_name":"COQ6","entity_type":"gene"},{"created":"2022-09-19T07:24:57.512395+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COQ4 was added\ngene: COQ4 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, MIM#\t616276","entity_name":"COQ4","entity_type":"gene"},{"created":"2022-09-19T07:24:57.325605+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COQ2 was added\ngene: COQ2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, MIM#\t607426","entity_name":"COQ2","entity_type":"gene"},{"created":"2022-09-19T07:24:57.197199+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COLQ was added\ngene: COLQ was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COLQ were set to Congenital myasthenic syndrome, MIM#603034","entity_name":"COLQ","entity_type":"gene"},{"created":"2022-09-19T07:24:57.022163+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL9A3 was added\ngene: COL9A3 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: COL9A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL9A3 were set to Stickler syndrome","entity_name":"COL9A3","entity_type":"gene"},{"created":"2022-09-19T07:24:56.890676+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL9A2 was added\ngene: COL9A2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL9A2 were set to Stickler syndrome, type V, MIM# 614284","entity_name":"COL9A2","entity_type":"gene"},{"created":"2022-09-19T07:24:56.703548+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL9A1 was added\ngene: COL9A1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL9A1 were set to Stickler syndrome, type IV, MIM#614134","entity_name":"COL9A1","entity_type":"gene"},{"created":"2022-09-19T07:24:56.526649+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL7A1 was added\ngene: COL7A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: COL7A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica","entity_name":"COL7A1","entity_type":"gene"},{"created":"2022-09-19T07:24:56.398213+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL6A3 was added\ngene: COL6A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A3 were set to Ullrich congenital muscular dystrophy","entity_name":"COL6A3","entity_type":"gene"},{"created":"2022-09-19T07:24:56.218197+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL6A2 was added\ngene: COL6A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: COL6A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy","entity_name":"COL6A2","entity_type":"gene"},{"created":"2022-09-19T07:24:56.097924+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL6A1 was added\ngene: COL6A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy","entity_name":"COL6A1","entity_type":"gene"},{"created":"2022-09-19T07:24:55.919179+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL5A2 was added\ngene: COL5A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome","entity_name":"COL5A2","entity_type":"gene"},{"created":"2022-09-19T07:24:55.796522+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL5A1 was added\ngene: COL5A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, type I","entity_name":"COL5A1","entity_type":"gene"},{"created":"2022-09-19T07:24:55.606568+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL4A5 was added\ngene: COL4A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: COL4A5 were set to Alport syndrome","entity_name":"COL4A5","entity_type":"gene"},{"created":"2022-09-19T07:24:55.488740+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL4A4 was added\ngene: COL4A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL4A4 were set to Alport syndrome","entity_name":"COL4A4","entity_type":"gene"},{"created":"2022-09-19T07:24:55.302595+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL4A3 was added\ngene: COL4A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: COL4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL4A3 were set to Alport syndrome","entity_name":"COL4A3","entity_type":"gene"},{"created":"2022-09-19T07:24:55.125117+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL3A1 was added\ngene: COL3A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, type IV","entity_name":"COL3A1","entity_type":"gene"},{"created":"2022-09-19T07:24:55.004596+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL2A1 was added\ngene: COL2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL2A1 were set to Stickler syndrome","entity_name":"COL2A1","entity_type":"gene"},{"created":"2022-09-19T07:24:54.817112+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL1A2 was added\ngene: COL1A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: COL1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL1A2 were set to Osteogenesis imperfecta, type II","entity_name":"COL1A2","entity_type":"gene"},{"created":"2022-09-19T07:24:54.699144+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL1A1 was added\ngene: COL1A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL1A1 were set to Osteogenesis imperfecta, type I","entity_name":"COL1A1","entity_type":"gene"},{"created":"2022-09-19T07:24:54.512772+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL17A1 was added\ngene: COL17A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type","entity_name":"COL17A1","entity_type":"gene"},{"created":"2022-09-19T07:24:54.393834+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL13A1 was added\ngene: COL13A1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL13A1 were set to Myasthenic syndrome, congenital, 19, MIM#\t616720","entity_name":"COL13A1","entity_type":"gene"},{"created":"2022-09-19T07:24:54.211408+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL11A2 was added\ngene: COL11A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: COL11A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL11A2 were set to Otospondylomegaepiphyseal dysplasia","entity_name":"COL11A2","entity_type":"gene"},{"created":"2022-09-19T07:24:54.092224+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL11A1 was added\ngene: COL11A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL11A1 were set to Stickler syndrome","entity_name":"COL11A1","entity_type":"gene"},{"created":"2022-09-19T07:24:53.903952+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COG5 was added\ngene: COG5 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG5 were set to 32174980; 23228021; 31572517\nPhenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi","entity_name":"COG5","entity_type":"gene"},{"created":"2022-09-19T07:24:53.791002+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COCH was added\ngene: COCH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: COCH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: COCH were set to 21046548; 26256111; 9806553; 16151338; 28099493; 22931125; 18312449; 28116169; 28733840; 17561763; 18697796; 32562050; 29449721; 32939038; 22610276\nPhenotypes for gene: COCH were set to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094","entity_name":"COCH","entity_type":"gene"},{"created":"2022-09-19T07:24:53.611502+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CNGB3 was added\ngene: CNGB3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CNGB3 were set to Achromatopsia-3","entity_name":"CNGB3","entity_type":"gene"},{"created":"2022-09-19T07:24:53.493437+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLRN1 was added\ngene: CLRN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLRN1 were set to Usher syndrome, type 3A","entity_name":"CLRN1","entity_type":"gene"},{"created":"2022-09-19T07:24:53.308992+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLPP was added\ngene: CLPP was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLPP were set to 25254289; 27087618; 27899912; 23541340\nPhenotypes for gene: CLPP were set to Perrault syndrome 3, MIM# 614129","entity_name":"CLPP","entity_type":"gene"},{"created":"2022-09-19T07:24:53.191875+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLN8 was added\ngene: CLN8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8","entity_name":"CLN8","entity_type":"gene"},{"created":"2022-09-19T07:24:53.012398+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLN6 was added\ngene: CLN6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, 6","entity_name":"CLN6","entity_type":"gene"},{"created":"2022-09-19T07:24:52.894762+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLN5 was added\ngene: CLN5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5","entity_name":"CLN5","entity_type":"gene"},{"created":"2022-09-19T07:24:52.718303+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLN3 was added\ngene: CLN3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3","entity_name":"CLN3","entity_type":"gene"}]}