{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=764","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=762","results":[{"created":"2022-09-19T07:26:00.707996+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IRF6 was added\ngene: IRF6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: IRF6 were set to van der Woude syndrome MIM# 119300","entity_name":"IRF6","entity_type":"gene"},{"created":"2022-09-19T07:26:00.495757+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IRAK4 was added\ngene: IRAK4 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: IRAK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IRAK4 were set to Immunodeficiency 67, MIM#\t607676","entity_name":"IRAK4","entity_type":"gene"},{"created":"2022-09-19T07:26:00.209888+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IQCB1 was added\ngene: IQCB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5","entity_name":"IQCB1","entity_type":"gene"},{"created":"2022-09-19T07:25:59.914880+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: INVS was added\ngene: INVS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INVS were set to Nephronophthisis 2","entity_name":"INVS","entity_type":"gene"},{"created":"2022-09-19T07:25:59.497481+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: INSR was added\ngene: INSR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INSR were set to Leprechaunism","entity_name":"INSR","entity_type":"gene"},{"created":"2022-09-19T07:25:59.230066+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: INS was added\ngene: INS was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green\nMode of inheritance for gene: INS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: INS were set to Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life","entity_name":"INS","entity_type":"gene"},{"created":"2022-09-19T07:25:59.007608+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ILDR1 was added\ngene: ILDR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ILDR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ILDR1 were set to Deafness, autosomal recessive","entity_name":"ILDR1","entity_type":"gene"},{"created":"2022-09-19T07:25:58.724049+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IL7R was added\ngene: IL7R was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green\nMode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971","entity_name":"IL7R","entity_type":"gene"},{"created":"2022-09-19T07:25:58.505330+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IL2RG was added\ngene: IL2RG was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked, MIM#312863","entity_name":"IL2RG","entity_type":"gene"},{"created":"2022-09-19T07:25:58.291169+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IL2RB was added\ngene: IL2RB was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL2RB were set to Immunodeficiency 63 with lymphoproliferation and autoimmunity\t, MIM#618495","entity_name":"IL2RB","entity_type":"gene"},{"created":"2022-09-19T07:25:58.010086+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IL10RB was added\ngene: IL10RB was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL10RB were set to Inflammatory bowel disease 25, early onset, autosomal recessive, MIM#\t612567","entity_name":"IL10RB","entity_type":"gene"},{"created":"2022-09-19T07:25:57.801182+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IL10RA was added\ngene: IL10RA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL10RA were set to Inflammatory bowel disease, MIM#613148","entity_name":"IL10RA","entity_type":"gene"},{"created":"2022-09-19T07:25:57.322377+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IKBKG was added\ngene: IKBKG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IKBKG were set to Incontinentia pigmenti 1","entity_name":"IKBKG","entity_type":"gene"},{"created":"2022-09-19T07:25:57.108769+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IGSF1 was added\ngene: IGSF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IGSF1 were set to Central hypothyroidism and testicular enlargement","entity_name":"IGSF1","entity_type":"gene"},{"created":"2022-09-19T07:25:56.902221+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IGLL1 was added\ngene: IGLL1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: IGLL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGLL1 were set to Agammaglobulinaemia 2, MIM#\t613500","entity_name":"IGLL1","entity_type":"gene"},{"created":"2022-09-19T07:25:56.690852+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IGHMBP2 was added\ngene: IGHMBP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGHMBP2 were set to Spinal muscular atrophy with respiratory distress","entity_name":"IGHMBP2","entity_type":"gene"},{"created":"2022-09-19T07:25:56.431403+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IGHM was added\ngene: IGHM was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGHM were set to Agammaglobulinaemia 1, MIM#\t601495","entity_name":"IGHM","entity_type":"gene"},{"created":"2022-09-19T07:25:56.202558+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IDUA was added\ngene: IDUA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih, MIM#607014","entity_name":"IDUA","entity_type":"gene"},{"created":"2022-09-19T07:25:55.989899+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IDS was added\ngene: IDS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IDS were set to Mucopolysaccharidosis II","entity_name":"IDS","entity_type":"gene"},{"created":"2022-09-19T07:25:55.510221+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HTRA1 was added\ngene: HTRA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HTRA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HTRA1 were set to CARASIL syndrome","entity_name":"HTRA1","entity_type":"gene"},{"created":"2022-09-19T07:25:55.303205+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSPG2 was added\ngene: HSPG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome","entity_name":"HSPG2","entity_type":"gene"},{"created":"2022-09-19T07:25:55.094639+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSPB8 was added\ngene: HSPB8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HSPB8 were set to Charcot-Marie-Tooth disease, axonal, type 2L","entity_name":"HSPB8","entity_type":"gene"},{"created":"2022-09-19T07:25:54.831553+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSD3B7 was added\ngene: HSD3B7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD3B7 were set to 3 beta-hydroxysteroid dehydrogenase deficiency","entity_name":"HSD3B7","entity_type":"gene"},{"created":"2022-09-19T07:25:54.611863+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSD3B2 was added\ngene: HSD3B2 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green\nMode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-09-19T07:25:54.389923+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSD17B4 was added\ngene: HSD17B4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2022-09-19T07:25:54.107655+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSD17B3 was added\ngene: HSD17B3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia","entity_name":"HSD17B3","entity_type":"gene"},{"created":"2022-09-19T07:25:53.901892+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSD17B10 was added\ngene: HSD17B10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HSD17B10 were set to 17-beta-hydroxysteroid dehydrogenase X deficiency","entity_name":"HSD17B10","entity_type":"gene"},{"created":"2022-09-19T07:25:53.493518+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HRAS was added\ngene: HRAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HRAS were set to Costello syndrome","entity_name":"HRAS","entity_type":"gene"},{"created":"2022-09-19T07:25:53.214534+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HPS5 was added\ngene: HPS5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5","entity_name":"HPS5","entity_type":"gene"},{"created":"2022-09-19T07:25:53.005962+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HPS4 was added\ngene: HPS4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4","entity_name":"HPS4","entity_type":"gene"},{"created":"2022-09-19T07:25:52.799788+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HPS3 was added\ngene: HPS3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3","entity_name":"HPS3","entity_type":"gene"},{"created":"2022-09-19T07:25:52.530179+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HPS1 was added\ngene: HPS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1","entity_name":"HPS1","entity_type":"gene"},{"created":"2022-09-19T07:25:52.314080+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HPRT1 was added\ngene: HPRT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome 1","entity_name":"HPRT1","entity_type":"gene"},{"created":"2022-09-19T07:25:52.103108+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HPD was added\ngene: HPD was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: HPD were set to Hawkinsinuria\t, MIM#140350; Tyrosinaemia, type III\t276710","entity_name":"HPD","entity_type":"gene"},{"created":"2022-09-19T07:25:51.899302+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HOMER2 was added\ngene: HOMER2 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: HOMER2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HOMER2 were set to Autosomal dominant non syndromic deafness","entity_name":"HOMER2","entity_type":"gene"},{"created":"2022-09-19T07:25:51.422875+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HNF4A was added\ngene: HNF4A was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM#\t616026; Hypoglycaemia, hyperinsulinaemic, MIM#125850","entity_name":"HNF4A","entity_type":"gene"},{"created":"2022-09-19T07:25:51.210362+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HNF1A was added\ngene: HNF1A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNF1A were set to MODY, type III\t, MIM#600496","entity_name":"HNF1A","entity_type":"gene"},{"created":"2022-09-19T07:25:51.008757+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HMGCL was added\ngene: HMGCL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HMGCL were set to 3-hydroxy-3-methylglutaric aciduria, MIM#246450","entity_name":"HMGCL","entity_type":"gene"},{"created":"2022-09-19T07:25:50.726197+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HLCS was added\ngene: HLCS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, MIM#253270","entity_name":"HLCS","entity_type":"gene"},{"created":"2022-09-19T07:25:50.505495+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HK1 was added\ngene: HK1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HK1 were set to Haemolytic anaemia due to hexokinase deficiency\t, MIM#235700","entity_name":"HK1","entity_type":"gene"},{"created":"2022-09-19T07:25:50.296702+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HINT1 was added\ngene: HINT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HINT1 were set to Axonal neuropathy with neuromyotonia","entity_name":"HINT1","entity_type":"gene"},{"created":"2022-09-19T07:25:50.022926+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HGSNAT was added\ngene: HGSNAT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HGSNAT were set to Mucopolysaccharidosis IIIC","entity_name":"HGSNAT","entity_type":"gene"},{"created":"2022-09-19T07:25:49.809056+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HGF was added\ngene: HGF was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: HGF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HGF were set to Deafness, autosomal recessive","entity_name":"HGF","entity_type":"gene"},{"created":"2022-09-19T07:25:49.599057+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HGD was added\ngene: HGD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HGD were set to Alkaptonuria","entity_name":"HGD","entity_type":"gene"},{"created":"2022-09-19T07:25:49.396727+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HEXB was added\ngene: HEXB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms","entity_name":"HEXB","entity_type":"gene"},{"created":"2022-09-19T07:25:48.888501+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HEXA was added\ngene: HEXA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEXA were set to Tay-Sachs disease","entity_name":"HEXA","entity_type":"gene"},{"created":"2022-09-19T07:25:48.628049+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HESX1 was added\ngene: HESX1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: HESX1 were set to Septooptic dysplasia, MIM#\t182230","entity_name":"HESX1","entity_type":"gene"},{"created":"2022-09-19T07:25:48.441516+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HDAC8 was added\ngene: HDAC8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle","entity_name":"HDAC8","entity_type":"gene"},{"created":"2022-09-19T07:25:48.199948+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HCFC1 was added\ngene: HCFC1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: HCFC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HCFC1 were set to Methylmalonic aciduria and homocysteinemia, cblX type, MIM#\t309541","entity_name":"HCFC1","entity_type":"gene"},{"created":"2022-09-19T07:25:47.916159+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HBB was added\ngene: HBB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HBB were set to Beta-thalassemia","entity_name":"HBB","entity_type":"gene"},{"created":"2022-09-19T07:25:47.713984+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HBA2 was added\ngene: HBA2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HBA2 were set to Thalassemia, alpha, MIM#604131","entity_name":"HBA2","entity_type":"gene"},{"created":"2022-09-19T07:25:47.507582+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HBA1 was added\ngene: HBA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HBA1 were set to Thalassaemia alpha, MIM#604131","entity_name":"HBA1","entity_type":"gene"},{"created":"2022-09-19T07:25:47.303316+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HAX1 was added\ngene: HAX1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HAX1 were set to Neutropenia, severe congenital 3, autosomal recessive, MIM#\t610738","entity_name":"HAX1","entity_type":"gene"},{"created":"2022-09-19T07:25:46.894060+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HARS2 was added\ngene: HARS2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HARS2 were set to Perrault syndrome; autosomal recessive sensorineural hearing loss","entity_name":"HARS2","entity_type":"gene"},{"created":"2022-09-19T07:25:46.646334+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HADHB was added\ngene: HADHB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHB were set to Mitochondrial trifunctional protein deficiency, MIM#609015","entity_name":"HADHB","entity_type":"gene"},{"created":"2022-09-19T07:25:46.410220+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HADHA was added\ngene: HADHA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHA were set to Mitochondrial trifunctional protein deficiency, MIM#609015; LCHAD deficiency, MIM#\t609016","entity_name":"HADHA","entity_type":"gene"},{"created":"2022-09-19T07:25:46.118687+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HADH was added\ngene: HADH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADH were set to Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975","entity_name":"HADH","entity_type":"gene"},{"created":"2022-09-19T07:25:45.913432+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GYS2 was added\ngene: GYS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GYS2 were set to Glycogen storage disease 0","entity_name":"GYS2","entity_type":"gene"},{"created":"2022-09-19T07:25:45.693866+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GUSB was added\ngene: GUSB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, MIM#253220","entity_name":"GUSB","entity_type":"gene"},{"created":"2022-09-19T07:25:45.428400+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GSS was added\ngene: GSS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GSS were set to Glutathione synthetase deficiency","entity_name":"GSS","entity_type":"gene"},{"created":"2022-09-19T07:25:45.231492+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GRXCR1 was added\ngene: GRXCR1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: GRXCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRXCR1 were set to 26445815; 20137778; 20137774; 26226137; 25802247; 26969326\nPhenotypes for gene: GRXCR1 were set to Deafness, autosomal recessive 25, MIM#\t613285","entity_name":"GRXCR1","entity_type":"gene"},{"created":"2022-09-19T07:25:44.757434+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GRHPR was added\ngene: GRHPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II","entity_name":"GRHPR","entity_type":"gene"},{"created":"2022-09-19T07:25:44.562140+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GRHL2 was added\ngene: GRHL2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GRHL2 were set to Autosomal dominant hearing loss, MIM# 608641","entity_name":"GRHL2","entity_type":"gene"},{"created":"2022-09-19T07:25:44.298218+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GPSM2 was added\ngene: GPSM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome","entity_name":"GPSM2","entity_type":"gene"},{"created":"2022-09-19T07:25:44.092133+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GPR143 was added\ngene: GPR143 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GPR143 were set to Ocular albinism, type I","entity_name":"GPR143","entity_type":"gene"},{"created":"2022-09-19T07:25:43.835405+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GPC3 was added\ngene: GPC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome","entity_name":"GPC3","entity_type":"gene"},{"created":"2022-09-19T07:25:43.614901+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GOT2 was added\ngene: GOT2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GOT2 were set to Developmental and epileptic encephalopathy 82, MIM#\t618721","entity_name":"GOT2","entity_type":"gene"},{"created":"2022-09-19T07:25:43.413771+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNS was added\ngene: GNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNS were set to Mucopolysaccharidosis IIId","entity_name":"GNS","entity_type":"gene"},{"created":"2022-09-19T07:25:43.201030+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNPTG was added\ngene: GNPTG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPTG were set to Mucolipidosis III gamma","entity_name":"GNPTG","entity_type":"gene"},{"created":"2022-09-19T07:25:43.004839+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNPTAB was added\ngene: GNPTAB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPTAB were set to Mucolipidosis II","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2022-09-19T07:25:42.588465+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNE was added\ngene: GNE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNE were set to Inclusion body myopathy","entity_name":"GNE","entity_type":"gene"},{"created":"2022-09-19T07:25:42.316025+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNAS was added\ngene: GNAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GNAS was set to Unknown\nPhenotypes for gene: GNAS were set to Pseudopseudohypoparathyroidism; Pseudohypoparathyroidism","entity_name":"GNAS","entity_type":"gene"},{"created":"2022-09-19T07:25:42.120130+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLUD1 was added\ngene: GLUD1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GLUD1 were set to Hyperinsulinism, MIM#606762","entity_name":"GLUD1","entity_type":"gene"},{"created":"2022-09-19T07:25:41.901348+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLRB was added\ngene: GLRB was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLRB were set to Hyperekplexia 2, MIM#\t614619","entity_name":"GLRB","entity_type":"gene"},{"created":"2022-09-19T07:25:41.706496+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLRA1 was added\ngene: GLRA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, autosomal dominant or recessive, MIM#149400","entity_name":"GLRA1","entity_type":"gene"},{"created":"2022-09-19T07:25:41.488639+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLIS3 was added\ngene: GLIS3 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLIS3 were set to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#\t610199","entity_name":"GLIS3","entity_type":"gene"},{"created":"2022-09-19T07:25:41.231492+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLI3 was added\ngene: GLI3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome","entity_name":"GLI3","entity_type":"gene"},{"created":"2022-09-19T07:25:41.013074+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLDC was added\ngene: GLDC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLDC were set to Glycine encephalopathy","entity_name":"GLDC","entity_type":"gene"},{"created":"2022-09-19T07:25:40.807445+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLB1 was added\ngene: GLB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLB1 were set to Gangliosidosis GM1","entity_name":"GLB1","entity_type":"gene"},{"created":"2022-09-19T07:25:40.600130+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLA was added\ngene: GLA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GLA were set to Fabry disease","entity_name":"GLA","entity_type":"gene"},{"created":"2022-09-19T07:25:40.190094+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GJC2 was added\ngene: GJC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GJC2 were set to Pelizaeus-Merzbacher-like disease","entity_name":"GJC2","entity_type":"gene"},{"created":"2022-09-19T07:25:39.916459+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GJB2 was added\ngene: GJB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GJB2 were set to Deafness and palmoplantar keratoderma; Deafness","entity_name":"GJB2","entity_type":"gene"},{"created":"2022-09-19T07:25:39.732979+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GJB1 was added\ngene: GJB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy","entity_name":"GJB1","entity_type":"gene"},{"created":"2022-09-19T07:25:39.517276+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GJA1 was added\ngene: GJA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GJA1 were set to Oculodentodigital dysplasia","entity_name":"GJA1","entity_type":"gene"},{"created":"2022-09-19T07:25:39.309763+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GIPC3 was added\ngene: GIPC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GIPC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GIPC3 were set to Hearing loss","entity_name":"GIPC3","entity_type":"gene"},{"created":"2022-09-19T07:25:39.029324+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Source Expert list was added to GIF.\nAdded phenotypes Intrinsic factor deficiency # 261000 for gene: GIF","entity_name":"GIF","entity_type":"gene"},{"created":"2022-09-19T07:25:38.799431+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GGCX was added\ngene: GGCX was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450","entity_name":"GGCX","entity_type":"gene"},{"created":"2022-09-19T07:25:38.592941+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GFPT1 was added\ngene: GFPT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GFPT1 were set to Congenital myasthenic syndrome, limb-girdle, MIM#610542","entity_name":"GFPT1","entity_type":"gene"},{"created":"2022-09-19T07:25:38.332246+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GFM1 was added\ngene: GFM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1","entity_name":"GFM1","entity_type":"gene"},{"created":"2022-09-19T07:25:38.157529+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GFAP was added\ngene: GFAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GFAP were set to Alexander disease","entity_name":"GFAP","entity_type":"gene"},{"created":"2022-09-19T07:25:37.681871+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GDAP1 was added\ngene: GDAP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease","entity_name":"GDAP1","entity_type":"gene"},{"created":"2022-09-19T07:25:37.422047+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GCK was added\ngene: GCK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GCK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GCK were set to Hyperinsulinemic hypoglycemia, familial, MIM#602485","entity_name":"GCK","entity_type":"gene"},{"created":"2022-09-19T07:25:37.195949+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GCH1 was added\ngene: GCH1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: GCH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM#\t128230","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-09-19T07:25:36.990883+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GCDH was added\ngene: GCDH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCDH were set to Glutaric aciduria, type I, MIM#231670","entity_name":"GCDH","entity_type":"gene"},{"created":"2022-09-19T07:25:36.720823+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GBA was added\ngene: GBA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBA were set to Gaucher disease 1","entity_name":"GBA","entity_type":"gene"},{"created":"2022-09-19T07:25:36.511343+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GATA4 was added\ngene: GATA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GATA4 were set to Congenital heart defects","entity_name":"GATA4","entity_type":"gene"},{"created":"2022-09-19T07:25:36.304000+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GATA3 was added\ngene: GATA3 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255","entity_name":"GATA3","entity_type":"gene"},{"created":"2022-09-19T07:25:36.151854+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GATA2 was added\ngene: GATA2 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GATA2 were set to PMID: 25397911, 30047422\nPhenotypes for gene: GATA2 were set to Immunodeficiency 21 MIM#  614172; Emberger syndrome MIM# 614038","entity_name":"GATA2","entity_type":"gene"},{"created":"2022-09-19T07:25:35.881963+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GATA1 was added\ngene: GATA1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GATA1 were set to Blackfan-Diamond anaemia, ORPHA:124; Anaemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#\t300835; Congenital erythropoietic porphyria, ORPHA:79277; Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM#\t300367","entity_name":"GATA1","entity_type":"gene"},{"created":"2022-09-19T07:25:35.619443+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GAN was added\ngene: GAN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAN were set to Giant axonal neuropathy","entity_name":"GAN","entity_type":"gene"}]}