{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=763","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=761","results":[{"created":"2022-09-19T07:26:29.902996+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MUT was added\ngene: MUT was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, MIM#\t251000","entity_name":"MUT","entity_type":"gene"},{"created":"2022-09-19T07:26:29.419362+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMADHC was added\ngene: MMADHC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type, MIM#277410","entity_name":"MMADHC","entity_type":"gene"},{"created":"2022-09-19T07:26:29.128004+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMACHC was added\ngene: MMACHC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-09-19T07:26:28.899574+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMAB was added\ngene: MMAB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, MIM#251110","entity_name":"MMAB","entity_type":"gene"},{"created":"2022-09-19T07:26:28.600894+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMAA was added\ngene: MMAA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive, MIM#251100","entity_name":"MMAA","entity_type":"gene"},{"created":"2022-09-19T07:26:28.308163+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MLYCD was added\ngene: MLYCD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency","entity_name":"MLYCD","entity_type":"gene"},{"created":"2022-09-19T07:26:27.851919+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MLC1 was added\ngene: MLC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy","entity_name":"MLC1","entity_type":"gene"},{"created":"2022-09-19T07:26:27.601040+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MKS1 was added\ngene: MKS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKS1 were set to Meckel syndrome","entity_name":"MKS1","entity_type":"gene"},{"created":"2022-09-19T07:26:27.288616+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MKKS was added\ngene: MKKS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKKS were set to Bardet-Biedl syndrome","entity_name":"MKKS","entity_type":"gene"},{"created":"2022-09-19T07:26:26.998112+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MITF was added\ngene: MITF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MITF were set to Waardenburg syndrome","entity_name":"MITF","entity_type":"gene"},{"created":"2022-09-19T07:26:26.713150+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MGP was added\ngene: MGP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MGP were set to Keutel syndrome","entity_name":"MGP","entity_type":"gene"},{"created":"2022-09-19T07:26:26.214785+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MGAT2 was added\ngene: MGAT2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MGAT2 were set to 22105986; 31420886; 11228641; 33044030; 8808595\nPhenotypes for gene: MGAT2 were set to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908","entity_name":"MGAT2","entity_type":"gene"},{"created":"2022-09-19T07:26:25.988529+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MFSD8 was added\ngene: MFSD8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal","entity_name":"MFSD8","entity_type":"gene"},{"created":"2022-09-19T07:26:25.705957+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MFN2 was added\ngene: MFN2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MFN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease","entity_name":"MFN2","entity_type":"gene"},{"created":"2022-09-19T07:26:25.434729+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MEN1 was added\ngene: MEN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MEN1 were set to Multiple endocrine neoplasia I","entity_name":"MEN1","entity_type":"gene"},{"created":"2022-09-19T07:26:25.207165+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MEGF10 was added\ngene: MEGF10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset","entity_name":"MEGF10","entity_type":"gene"},{"created":"2022-09-19T07:26:24.908792+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MEFV was added\ngene: MEFV was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MEFV was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MEFV were set to Mediterranean fever, familial","entity_name":"MEFV","entity_type":"gene"},{"created":"2022-09-19T07:26:24.423316+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MED25 was added\ngene: MED25 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED25 were set to 25792360; 32816121\nPhenotypes for gene: MED25 were set to Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449","entity_name":"MED25","entity_type":"gene"},{"created":"2022-09-19T07:26:24.202574+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MED12 was added\ngene: MED12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MED12 were set to Intellectual disability","entity_name":"MED12","entity_type":"gene"},{"created":"2022-09-19T07:26:23.921964+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MECP2 was added\ngene: MECP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MECP2 were set to Rett syndrome","entity_name":"MECP2","entity_type":"gene"},{"created":"2022-09-19T07:26:23.701812+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCPH1 was added\ngene: MCPH1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive","entity_name":"MCPH1","entity_type":"gene"},{"created":"2022-09-19T07:26:23.425554+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCOLN1 was added\ngene: MCOLN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCOLN1 were set to Mucolipidosis IV","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2022-09-19T07:26:23.208112+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCFD2 was added\ngene: MCFD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCFD2 were set to Factor V and Factor VIII deficiency, combined","entity_name":"MCFD2","entity_type":"gene"},{"created":"2022-09-19T07:26:22.717784+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCCC2 was added\ngene: MCCC2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCCC2 were set to 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MIM#\t210210","entity_name":"MCCC2","entity_type":"gene"},{"created":"2022-09-19T07:26:22.499184+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCCC1 was added\ngene: MCCC1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCCC1 were set to 3-Methylcrotonyl-CoA carboxylase 1 deficiency, MIM#\t210200","entity_name":"MCCC1","entity_type":"gene"},{"created":"2022-09-19T07:26:22.209644+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MC2R was added\ngene: MC2R was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM#\t202200","entity_name":"MC2R","entity_type":"gene"},{"created":"2022-09-19T07:26:21.993154+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MBTPS2 was added\ngene: MBTPS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MBTPS2 were set to Ichthyosis follicularis, alopecia & photophobia","entity_name":"MBTPS2","entity_type":"gene"},{"created":"2022-09-19T07:26:21.704369+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MARVELD2 was added\ngene: MARVELD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MARVELD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MARVELD2 were set to Deafness, autosomal recessive","entity_name":"MARVELD2","entity_type":"gene"},{"created":"2022-09-19T07:26:21.490021+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAP2K2 was added\ngene: MAP2K2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome","entity_name":"MAP2K2","entity_type":"gene"},{"created":"2022-09-19T07:26:20.923004+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAP2K1 was added\ngene: MAP2K1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome","entity_name":"MAP2K1","entity_type":"gene"},{"created":"2022-09-19T07:26:20.693785+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAN2B1 was added\ngene: MAN2B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAN2B1 were set to Mannosidosis, alpha","entity_name":"MAN2B1","entity_type":"gene"},{"created":"2022-09-19T07:26:20.411322+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAGI2 was added\ngene: MAGI2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MAGI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAGI2 were set to Infantile spasms","entity_name":"MAGI2","entity_type":"gene"},{"created":"2022-09-19T07:26:20.118876+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAFB was added\ngene: MAFB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome","entity_name":"MAFB","entity_type":"gene"},{"created":"2022-09-19T07:26:19.899482+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAD2L2 was added\ngene: MAD2L2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM# \t617243","entity_name":"MAD2L2","entity_type":"gene"},{"created":"2022-09-19T07:26:19.616846+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LYST was added\ngene: LYST was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LYST were set to Chediak-Higashi syndrome, MIM#214500","entity_name":"LYST","entity_type":"gene"},{"created":"2022-09-19T07:26:19.126042+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LTBP4 was added\ngene: LTBP4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC","entity_name":"LTBP4","entity_type":"gene"},{"created":"2022-09-19T07:26:18.894137+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRTOMT was added\ngene: LRTOMT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LRTOMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRTOMT were set to Deafness, autosomal recessive","entity_name":"LRTOMT","entity_type":"gene"},{"created":"2022-09-19T07:26:18.620212+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRSAM1 was added\ngene: LRSAM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LRSAM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LRSAM1 were set to Charcot-Marie-Tooth disease","entity_name":"LRSAM1","entity_type":"gene"},{"created":"2022-09-19T07:26:18.390911+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRRC6 was added\ngene: LRRC6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRRC6 were set to Primary ciliary dyskinesia","entity_name":"LRRC6","entity_type":"gene"},{"created":"2022-09-19T07:26:18.106375+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRPPRC was added\ngene: LRPPRC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRPPRC were set to Leigh syndrome","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2022-09-19T07:26:17.887637+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRP5 was added\ngene: LRP5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LRP5 were set to Osteopetrosis, autosomal dominant; Osteoporosis-pseudoglioma syndrome","entity_name":"LRP5","entity_type":"gene"},{"created":"2022-09-19T07:26:17.401770+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRP4 was added\ngene: LRP4 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome; Myasthenic syndrome, congenital, 17 , MIM#616304","entity_name":"LRP4","entity_type":"gene"},{"created":"2022-09-19T07:26:17.122166+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRP2 was added\ngene: LRP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP2 were set to Donnai-Barrow syndrome","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-09-19T07:26:16.893329+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LOXHD1 was added\ngene: LOXHD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LOXHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LOXHD1 were set to Deafness, autosomal recessive","entity_name":"LOXHD1","entity_type":"gene"},{"created":"2022-09-19T07:26:16.606438+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LMX1B was added\ngene: LMX1B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LMX1B were set to Nail patella syndrome","entity_name":"LMX1B","entity_type":"gene"},{"created":"2022-09-19T07:26:16.394395+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LMOD3 was added\ngene: LMOD3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMOD3 were set to Nemaline myopathy","entity_name":"LMOD3","entity_type":"gene"},{"created":"2022-09-19T07:26:16.106455+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LMBRD1 was added\ngene: LMBRD1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, MIM#277380","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2022-09-19T07:26:15.814774+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LITAF was added\ngene: LITAF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LITAF were set to Charcot-Marie-Tooth disease","entity_name":"LITAF","entity_type":"gene"},{"created":"2022-09-19T07:26:15.397814+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LIPA was added\ngene: LIPA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIPA were set to Wolman syndrome, MIM#278000","entity_name":"LIPA","entity_type":"gene"},{"created":"2022-09-19T07:26:15.108305+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LIG4 was added\ngene: LIG4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIG4 were set to Severe combined immunodeficiency with sensitivity to ionizing radiation","entity_name":"LIG4","entity_type":"gene"},{"created":"2022-09-19T07:26:14.892218+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LIFR was added\ngene: LIFR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome","entity_name":"LIFR","entity_type":"gene"},{"created":"2022-09-19T07:26:14.607501+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LHX4 was added\ngene: LHX4 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: LHX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: LHX4 were set to Pituitary hormone deficiency, combined, 4, MIM#\t262700","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-09-19T07:26:14.395085+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LHX3 was added\ngene: LHX3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, MIM#221750","entity_name":"LHX3","entity_type":"gene"},{"created":"2022-09-19T07:26:13.900007+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LHFPL5 was added\ngene: LHFPL5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LHFPL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LHFPL5 were set to Deafness, autosomal recessive","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2022-09-19T07:26:13.625530+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LEPR was added\ngene: LEPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency","entity_name":"LEPR","entity_type":"gene"},{"created":"2022-09-19T07:26:13.413719+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LDLR was added\ngene: LDLR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LDLR were set to Hypercholesterolemia","entity_name":"LDLR","entity_type":"gene"},{"created":"2022-09-19T07:26:13.193050+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LARS2 was added\ngene: LARS2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARS2 were set to Perrault syndrome","entity_name":"LARS2","entity_type":"gene"},{"created":"2022-09-19T07:26:12.907472+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LARGE1 was added\ngene: LARGE1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARGE1 were set to Walker-Warburg syndrome","entity_name":"LARGE1","entity_type":"gene"},{"created":"2022-09-19T07:26:12.708026+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMTOR2 was added\ngene: LAMTOR2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: LAMTOR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMTOR2 were set to Immunodeficiency due to defect in MAPBP-interacting protein, MIM#\t610798","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2022-09-19T07:26:12.422649+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMP2 was added\ngene: LAMP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: LAMP2 were set to Danon disease","entity_name":"LAMP2","entity_type":"gene"},{"created":"2022-09-19T07:26:12.205910+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMC2 was added\ngene: LAMC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional","entity_name":"LAMC2","entity_type":"gene"},{"created":"2022-09-19T07:26:11.919900+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMB3 was added\ngene: LAMB3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional","entity_name":"LAMB3","entity_type":"gene"},{"created":"2022-09-19T07:26:11.501572+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMB2 was added\ngene: LAMB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMB2 were set to Pierson syndrome","entity_name":"LAMB2","entity_type":"gene"},{"created":"2022-09-19T07:26:11.203168+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMA3 was added\ngene: LAMA3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional","entity_name":"LAMA3","entity_type":"gene"},{"created":"2022-09-19T07:26:10.915051+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMA2 was added\ngene: LAMA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient","entity_name":"LAMA2","entity_type":"gene"},{"created":"2022-09-19T07:26:10.697038+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: L1CAM was added\ngene: L1CAM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: L1CAM were set to X-linked hydrocephalus syndrome","entity_name":"L1CAM","entity_type":"gene"},{"created":"2022-09-19T07:26:10.431793+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KRT6A was added\ngene: KRT6A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KRT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT6A were set to Pachyonychia congenita","entity_name":"KRT6A","entity_type":"gene"},{"created":"2022-09-19T07:26:10.191197+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KRT5 was added\ngene: KRT5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex","entity_name":"KRT5","entity_type":"gene"},{"created":"2022-09-19T07:26:09.705452+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KRT17 was added\ngene: KRT17 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KRT17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT17 were set to Pachyonychia congenita","entity_name":"KRT17","entity_type":"gene"},{"created":"2022-09-19T07:26:09.420099+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KRT16 was added\ngene: KRT16 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT16 were set to Pachyonychia congenita","entity_name":"KRT16","entity_type":"gene"},{"created":"2022-09-19T07:26:09.202509+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KRT14 was added\ngene: KRT14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex","entity_name":"KRT14","entity_type":"gene"},{"created":"2022-09-19T07:26:08.923209+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KRAS was added\ngene: KRAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRAS were set to Noonan syndrome","entity_name":"KRAS","entity_type":"gene"},{"created":"2022-09-19T07:26:08.708939+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KMT2D was added\ngene: KMT2D was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KMT2D were set to Kabuki syndrome 1","entity_name":"KMT2D","entity_type":"gene"},{"created":"2022-09-19T07:26:08.513837+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KLHL41 was added\ngene: KLHL41 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KLHL41 were set to Nemaline myopathy","entity_name":"KLHL41","entity_type":"gene"},{"created":"2022-09-19T07:26:08.208086+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KLHL40 was added\ngene: KLHL40 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KLHL40 were set to Nemaline myopathy","entity_name":"KLHL40","entity_type":"gene"},{"created":"2022-09-19T07:26:07.992792+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KLF1 was added\ngene: KLF1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLF1 were set to 33339573; 32815883; 32032242; 21055716; 32221653; 31818881\nPhenotypes for gene: KLF1 were set to MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673","entity_name":"KLF1","entity_type":"gene"},{"created":"2022-09-19T07:26:07.503965+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIT was added\ngene: KIT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KIT were set to Piebaldism","entity_name":"KIT","entity_type":"gene"},{"created":"2022-09-19T07:26:07.228686+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF21A was added\ngene: KIF21A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital","entity_name":"KIF21A","entity_type":"gene"},{"created":"2022-09-19T07:26:06.997546+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KDM6A was added\ngene: KDM6A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: KDM6A were set to Kabuki syndrome 2","entity_name":"KDM6A","entity_type":"gene"},{"created":"2022-09-19T07:26:06.723502+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCTD7 was added\ngene: KCTD7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic","entity_name":"KCTD7","entity_type":"gene"},{"created":"2022-09-19T07:26:06.500659+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNT1 was added\ngene: KCNT1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNT1 were set to Developmental and epileptic encephalopathy 14, MIM#\t614959","entity_name":"KCNT1","entity_type":"gene"},{"created":"2022-09-19T07:26:06.216597+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNQ4 was added\ngene: KCNQ4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KCNQ4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNQ4 were set to Deafness, autosomal dominant","entity_name":"KCNQ4","entity_type":"gene"},{"created":"2022-09-19T07:26:05.789890+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNQ2 was added\ngene: KCNQ2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNQ2 were set to Seizures, benign neonatal, 1, MIM#\t121200; Developmental and epileptic encephalopathy 7, MIM#\t613720","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2022-09-19T07:26:05.509288+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNQ1 was added\ngene: KCNQ1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: KCNQ1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: KCNQ1 were set to Short QT syndrome 2, MIM#\t609621; Long QT syndrome 1, MIM#\t192500; Jervell and Lange-Nielsen syndrome, MIM#\t220400","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2022-09-19T07:26:05.293872+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNJ2 was added\ngene: KCNJ2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNJ2 were set to Andersen cardiodysrhythmic periodic paralysis","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2022-09-19T07:26:05.008172+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNJ11 was added\ngene: KCNJ11 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, MIM#601820","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2022-09-19T07:26:04.788789+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNJ1 was added\ngene: KCNJ1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ1 were set to Bartter syndrome","entity_name":"KCNJ1","entity_type":"gene"},{"created":"2022-09-19T07:26:04.517015+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNA1 was added\ngene: KCNA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNA1 were set to Episodic ataxia type 1","entity_name":"KCNA1","entity_type":"gene"},{"created":"2022-09-19T07:26:04.288675+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KBTBD13 was added\ngene: KBTBD13 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KBTBD13 were set to Nemaline myopathy","entity_name":"KBTBD13","entity_type":"gene"},{"created":"2022-09-19T07:26:03.795154+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KAT6B was added\ngene: KAT6B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KAT6B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KAT6B were set to Genitopatellar syndrome","entity_name":"KAT6B","entity_type":"gene"},{"created":"2022-09-19T07:26:03.515555+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KARS was added\ngene: KARS was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KARS were set to 30737337; 30715177; 31116475\nPhenotypes for gene: KARS were set to deafness with progressive leukodystrophy","entity_name":"KARS","entity_type":"gene"},{"created":"2022-09-19T07:26:03.296625+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KANSL1 was added\ngene: KANSL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome","entity_name":"KANSL1","entity_type":"gene"},{"created":"2022-09-19T07:26:03.017173+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JAK3 was added\ngene: JAK3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, MIM#600802","entity_name":"JAK3","entity_type":"gene"},{"created":"2022-09-19T07:26:02.799960+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JAG1 was added\ngene: JAG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: JAG1 were set to Alagille syndrome","entity_name":"JAG1","entity_type":"gene"},{"created":"2022-09-19T07:26:02.525593+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IYD was added\ngene: IYD was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: IYD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IYD were set to 18765512; 30240412; 18434651\nPhenotypes for gene: IYD were set to Thyroid dyshormonogenesis 4, MIM# 274800","entity_name":"IYD","entity_type":"gene"},{"created":"2022-09-19T07:26:02.289776+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IVD was added\ngene: IVD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IVD were set to Isovaleric acidemia, MIM#243500","entity_name":"IVD","entity_type":"gene"},{"created":"2022-09-19T07:26:01.997136+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITGB4 was added\ngene: ITGB4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia","entity_name":"ITGB4","entity_type":"gene"},{"created":"2022-09-19T07:26:01.502979+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITGB2 was added\ngene: ITGB2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGB2 were set to Leukocyte adhesion deficiency, MIM#\t116920","entity_name":"ITGB2","entity_type":"gene"},{"created":"2022-09-19T07:26:01.218064+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITGA3 was added\ngene: ITGA3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital","entity_name":"ITGA3","entity_type":"gene"},{"created":"2022-09-19T07:26:00.992998+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ISPD was added\ngene: ISPD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7","entity_name":"ISPD","entity_type":"gene"}]}