{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=762","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=760","results":[{"created":"2022-09-19T07:27:02.819291+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDX1 was added\ngene: PDX1 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDX1 were set to Pancreatic agenesis, MIM# # 260370","entity_name":"PDX1","entity_type":"gene"},{"created":"2022-09-19T07:27:02.314707+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDSS2 was added\ngene: PDSS2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDSS2 were set to Coenzyme Q10 deficiency, primary, 3, MIM#\t614652","entity_name":"PDSS2","entity_type":"gene"},{"created":"2022-09-19T07:27:01.956670+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDSS1 was added\ngene: PDSS1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, MIM#\t614651","entity_name":"PDSS1","entity_type":"gene"},{"created":"2022-09-19T07:27:01.624330+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDHX was added\ngene: PDHX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDHX were set to Pyruvate dehydrogenase complex deficiency","entity_name":"PDHX","entity_type":"gene"},{"created":"2022-09-19T07:27:01.295436+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDHA1 was added\ngene: PDHA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase deficiency","entity_name":"PDHA1","entity_type":"gene"},{"created":"2022-09-19T07:27:00.735110+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDE4D was added\ngene: PDE4D was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PDE4D were set to Acrodysostosis 2, with or without hormone resistance","entity_name":"PDE4D","entity_type":"gene"},{"created":"2022-09-19T07:27:00.416677+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCNT was added\ngene: PCNT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism type 2","entity_name":"PCNT","entity_type":"gene"},{"created":"2022-09-19T07:27:00.120538+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCDH15 was added\ngene: PCDH15 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCDH15 were set to Usher syndrome","entity_name":"PCDH15","entity_type":"gene"},{"created":"2022-09-19T07:26:59.828178+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCCB was added\ngene: PCCB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCCB were set to Propionicacidemia","entity_name":"PCCB","entity_type":"gene"},{"created":"2022-09-19T07:26:59.544853+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCCA was added\ngene: PCCA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCCA were set to Propionic acidaemia, MIM#606054","entity_name":"PCCA","entity_type":"gene"},{"created":"2022-09-19T07:26:59.014584+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCBD1 was added\ngene: PCBD1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D, MIM#\t264070","entity_name":"PCBD1","entity_type":"gene"},{"created":"2022-09-19T07:26:58.714079+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PC was added\ngene: PC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PC were set to Pyruvate carboxylase deficiency","entity_name":"PC","entity_type":"gene"},{"created":"2022-09-19T07:26:58.441652+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PAX8 was added\ngene: PAX8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PAX8 were set to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia","entity_name":"PAX8","entity_type":"gene"},{"created":"2022-09-19T07:26:58.122948+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PAX6 was added\ngene: PAX6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PAX6 were set to Aniridia","entity_name":"PAX6","entity_type":"gene"},{"created":"2022-09-19T07:26:57.633175+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PAX3 was added\ngene: PAX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PAX3 were set to Waardenburg syndrome","entity_name":"PAX3","entity_type":"gene"},{"created":"2022-09-19T07:26:57.394440+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PANK2 was added\ngene: PANK2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1","entity_name":"PANK2","entity_type":"gene"},{"created":"2022-09-19T07:26:57.099813+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PALB2 was added\ngene: PALB2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PALB2 were set to 17200671\nPhenotypes for gene: PALB2 were set to Fanconi anemia, complementation group N, MIM# 610832","entity_name":"PALB2","entity_type":"gene"},{"created":"2022-09-19T07:26:56.798818+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PAK3 was added\ngene: PAK3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PAK3 were set to Mental retardation syndrome, X-linked","entity_name":"PAK3","entity_type":"gene"},{"created":"2022-09-19T07:26:56.296745+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PAH was added\ngene: PAH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PAH were set to Phenylketonuria, MIM#261600","entity_name":"PAH","entity_type":"gene"},{"created":"2022-09-19T07:26:55.998742+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: P2RY12 was added\ngene: P2RY12 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: P2RY12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: P2RY12 were set to 29117459; 11196645; 19237732; 12578987\nPhenotypes for gene: P2RY12 were set to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354","entity_name":"P2RY12","entity_type":"gene"},{"created":"2022-09-19T07:26:55.697497+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OXCT1 was added\ngene: OXCT1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM#\t245050","entity_name":"OXCT1","entity_type":"gene"},{"created":"2022-09-19T07:26:55.404092+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OTOGL was added\ngene: OTOGL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OTOGL were set to Deafness, autosomal recessive","entity_name":"OTOGL","entity_type":"gene"},{"created":"2022-09-19T07:26:55.106466+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OTOF was added\ngene: OTOF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OTOF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OTOF were set to Deafness, autosomal recessive","entity_name":"OTOF","entity_type":"gene"},{"created":"2022-09-19T07:26:54.624851+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OTOA was added\ngene: OTOA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OTOA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OTOA were set to Deafness, autosomal recessive","entity_name":"OTOA","entity_type":"gene"},{"created":"2022-09-19T07:26:54.310721+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OTC was added\ngene: OTC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, MIM#311250","entity_name":"OTC","entity_type":"gene"},{"created":"2022-09-19T07:26:54.026331+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OSTM1 was added\ngene: OSTM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OSTM1 were set to Osteopetrosis","entity_name":"OSTM1","entity_type":"gene"},{"created":"2022-09-19T07:26:53.791598+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OSMR was added\ngene: OSMR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: OSMR were set to Amyloidosis, primary cutaneous","entity_name":"OSMR","entity_type":"gene"},{"created":"2022-09-19T07:26:53.499007+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ORC1 was added\ngene: ORC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ORC1 were set to Meier-Gorlin syndrome","entity_name":"ORC1","entity_type":"gene"},{"created":"2022-09-19T07:26:52.994223+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OPA1 was added\ngene: OPA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: OPA1 were set to Optic atrophy 1","entity_name":"OPA1","entity_type":"gene"},{"created":"2022-09-19T07:26:52.700959+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OFD1 was added\ngene: OFD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OFD1 were set to Oral-facial-digital syndrome","entity_name":"OFD1","entity_type":"gene"},{"created":"2022-09-19T07:26:52.422484+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OCRL was added\ngene: OCRL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OCRL were set to Lowe oculocerebrorenal syndrome","entity_name":"OCRL","entity_type":"gene"},{"created":"2022-09-19T07:26:52.188632+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OCA2 was added\ngene: OCA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OCA2 were set to Albinism, oculocutaneous","entity_name":"OCA2","entity_type":"gene"},{"created":"2022-09-19T07:26:51.898140+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OBSL1 was added\ngene: OBSL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OBSL1 were set to 3-M syndrome","entity_name":"OBSL1","entity_type":"gene"},{"created":"2022-09-19T07:26:51.399869+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NTRK1 was added\ngene: NTRK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NTRK1 were set to Congenital insensitivity to pain with anhidrosis MIM#256800","entity_name":"NTRK1","entity_type":"gene"},{"created":"2022-09-19T07:26:51.019342+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NSD1 was added\ngene: NSD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NSD1 were set to Sotos syndrome","entity_name":"NSD1","entity_type":"gene"},{"created":"2022-09-19T07:26:50.787627+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NR5A1 was added\ngene: NR5A1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NR5A1 were set to 46, XX sex reversal 4, MIM#\t617480; 46XY sex reversal 3, MIM#\t612965","entity_name":"NR5A1","entity_type":"gene"},{"created":"2022-09-19T07:26:50.493911+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NR3C2 was added\ngene: NR3C2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: NR3C2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NR3C2 were set to Pseudohypoaldosteronism type I, autosomal dominant\t, MIM#177735","entity_name":"NR3C2","entity_type":"gene"},{"created":"2022-09-19T07:26:50.194268+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NR0B1 was added\ngene: NR0B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NR0B1 were set to Congenital adrenal hypoplasia","entity_name":"NR0B1","entity_type":"gene"},{"created":"2022-09-19T07:26:49.644621+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NPHS1 was added\ngene: NPHS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHS1 were set to Congenital nephrotic syndrome, Finnish type","entity_name":"NPHS1","entity_type":"gene"},{"created":"2022-09-19T07:26:49.397064+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NPHP4 was added\ngene: NPHP4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP4 were set to Nephronophthisis","entity_name":"NPHP4","entity_type":"gene"},{"created":"2022-09-19T07:26:49.099729+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NPHP3 was added\ngene: NPHP3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP3 were set to Nephronophthisis","entity_name":"NPHP3","entity_type":"gene"},{"created":"2022-09-19T07:26:48.807938+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NPHP1 was added\ngene: NPHP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP1 were set to Nephronophthisis","entity_name":"NPHP1","entity_type":"gene"},{"created":"2022-09-19T07:26:48.524546+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NPC2 was added\ngene: NPC2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPC2 were set to Niemann-Pick disease type C2, MIM#607625","entity_name":"NPC2","entity_type":"gene"},{"created":"2022-09-19T07:26:48.021099+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NPC1 was added\ngene: NPC1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPC1 were set to Niemann-Pick disease type C1, MIM#257220","entity_name":"NPC1","entity_type":"gene"},{"created":"2022-09-19T07:26:47.795696+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NOTCH3 was added\ngene: NOTCH3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NOTCH3 were set to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2022-09-19T07:26:47.511984+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NOTCH2 was added\ngene: NOTCH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome","entity_name":"NOTCH2","entity_type":"gene"},{"created":"2022-09-19T07:26:47.207550+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NOG was added\ngene: NOG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NOG were set to Symphalangism, proximal, 1A","entity_name":"NOG","entity_type":"gene"},{"created":"2022-09-19T07:26:46.710894+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NNT was added\ngene: NNT was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, MIM#\t614736","entity_name":"NNT","entity_type":"gene"},{"created":"2022-09-19T07:26:46.488659+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NKX2-1 was added\ngene: NKX2-1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2022-09-19T07:26:46.194400+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NIPBL was added\ngene: NIPBL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NIPBL were set to Cornelia de Lange syndrome","entity_name":"NIPBL","entity_type":"gene"},{"created":"2022-09-19T07:26:45.900083+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NIPAL4 was added\ngene: NIPAL4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NIPAL4 were set to Ichthyosis, autosomal recessive","entity_name":"NIPAL4","entity_type":"gene"},{"created":"2022-09-19T07:26:45.605413+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NHLRC1 was added\ngene: NHLRC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NHLRC1 were set to Myoclonic epilepsy of Lafora","entity_name":"NHLRC1","entity_type":"gene"},{"created":"2022-09-19T07:26:45.111785+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NHEJ1 was added\ngene: NHEJ1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2022-09-19T07:26:44.808573+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NGLY1 was added\ngene: NGLY1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NGLY1 were set to Developmental delay, multifocal epilepsy & abnormal liver function","entity_name":"NGLY1","entity_type":"gene"},{"created":"2022-09-19T07:26:44.591990+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NF2 was added\ngene: NF2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NF2 were set to Neurofibromatosis 2","entity_name":"NF2","entity_type":"gene"},{"created":"2022-09-19T07:26:44.301455+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NF1 was added\ngene: NF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NF1 were set to Neurofibromatosis, type 1","entity_name":"NF1","entity_type":"gene"},{"created":"2022-09-19T07:26:44.013622+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NEUROG3 was added\ngene: NEUROG3 was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEUROG3 were set to 32574610; 16855267; 21490072; 28724572\nPhenotypes for gene: NEUROG3 were set to Diarrhoea 4, malabsorptive, congenital, MIM# 610370","entity_name":"NEUROG3","entity_type":"gene"},{"created":"2022-09-19T07:26:43.517953+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NEU1 was added\ngene: NEU1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEU1 were set to Sialidosis","entity_name":"NEU1","entity_type":"gene"},{"created":"2022-09-19T07:26:43.295009+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NEK8 was added\ngene: NEK8 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEK8 were set to 26967905; 33131162; 26697755; 23274954; 26862157; 31633649; 23418306\nPhenotypes for gene: NEK8 were set to MONDO:0014174; Renal-hepatic-pancreatic dysplasia 2, MIM# 615415","entity_name":"NEK8","entity_type":"gene"},{"created":"2022-09-19T07:26:43.007491+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NEK1 was added\ngene: NEK1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEK1 were set to 22499340; 21211617; 28123176; 25492405\nPhenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520","entity_name":"NEK1","entity_type":"gene"},{"created":"2022-09-19T07:26:42.704297+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NEFL was added\ngene: NEFL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NEFL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NEFL were set to Charcot-Marie-Tooth disease","entity_name":"NEFL","entity_type":"gene"},{"created":"2022-09-19T07:26:42.434595+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NEB was added\ngene: NEB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEB were set to Nemaline myopathy","entity_name":"NEB","entity_type":"gene"},{"created":"2022-09-19T07:26:41.919201+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDP was added\ngene: NDP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NDP were set to Norrie disease","entity_name":"NDP","entity_type":"gene"},{"created":"2022-09-19T07:26:41.694798+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NCF4 was added\ngene: NCF4 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: NCF4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NCF4 were set to Chronic granulomatous disease 3, autosomal recessive, MIM#\t613960","entity_name":"NCF4","entity_type":"gene"},{"created":"2022-09-19T07:26:41.402205+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NCF2 was added\ngene: NCF2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NCF2 were set to Chronic granulomatous disease, MIM#233710","entity_name":"NCF2","entity_type":"gene"},{"created":"2022-09-19T07:26:41.101607+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NCF1 was added\ngene: NCF1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NCF1 were set to Chronic granulomatous disease, MIM#233700","entity_name":"NCF1","entity_type":"gene"},{"created":"2022-09-19T07:26:40.602595+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NBN was added\ngene: NBN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NBN were set to Nijmegen breakage syndrome, MIM#251260","entity_name":"NBN","entity_type":"gene"},{"created":"2022-09-19T07:26:40.308760+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAGS was added\ngene: NAGS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAGS were set to N-acetylglutamate synthetase deficiency, MIM#237310","entity_name":"NAGS","entity_type":"gene"},{"created":"2022-09-19T07:26:40.023432+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAGLU was added\ngene: NAGLU was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAGLU were set to Sanfilippo syndrome type B","entity_name":"NAGLU","entity_type":"gene"},{"created":"2022-09-19T07:26:39.792528+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAGA was added\ngene: NAGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAGA were set to N-acetylgalactosaminidase alpha deficiency","entity_name":"NAGA","entity_type":"gene"},{"created":"2022-09-19T07:26:39.499859+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYSM1 was added\ngene: MYSM1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM#\t618116","entity_name":"MYSM1","entity_type":"gene"},{"created":"2022-09-19T07:26:39.211089+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYO9A was added\ngene: MYO9A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic, MIM#\t618198","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-09-19T07:26:38.716185+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYO7A was added\ngene: MYO7A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO7A were set to Usher syndrome","entity_name":"MYO7A","entity_type":"gene"},{"created":"2022-09-19T07:26:38.498754+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYO6 was added\ngene: MYO6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MYO6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO6 were set to Deafness","entity_name":"MYO6","entity_type":"gene"},{"created":"2022-09-19T07:26:38.207833+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYO3A was added\ngene: MYO3A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MYO3A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO3A were set to Sensorineural hearing loss","entity_name":"MYO3A","entity_type":"gene"},{"created":"2022-09-19T07:26:37.991623+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYO15A was added\ngene: MYO15A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MYO15A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO15A were set to Sensorineural hearing loss","entity_name":"MYO15A","entity_type":"gene"},{"created":"2022-09-19T07:26:37.703372+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYH9 was added\ngene: MYH9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYH9 were set to Macrothrombocytopenia and progressive sensorineural deafness","entity_name":"MYH9","entity_type":"gene"},{"created":"2022-09-19T07:26:37.202372+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYH7 was added\ngene: MYH7 was added to gNBS. Sources: BabySeq Category B gene,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYH7 were set to Laing early-onset distal myopathy, MONDO:0008050; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Dilated cardiomyopathy 1S, MONDO:0013262; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426","entity_name":"MYH7","entity_type":"gene"},{"created":"2022-09-19T07:26:36.901683+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYH3 was added\ngene: MYH3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYH3 were set to Arthrogryposis, distal","entity_name":"MYH3","entity_type":"gene"},{"created":"2022-09-19T07:26:36.635634+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYH2 was added\ngene: MYH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MYH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia","entity_name":"MYH2","entity_type":"gene"},{"created":"2022-09-19T07:26:36.323847+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYH14 was added\ngene: MYH14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYH14 were set to Deafness, autosomal dominant","entity_name":"MYH14","entity_type":"gene"},{"created":"2022-09-19T07:26:36.093788+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYCN was added\ngene: MYCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYCN were set to Feingold syndrome","entity_name":"MYCN","entity_type":"gene"},{"created":"2022-09-19T07:26:35.594632+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYBPC1 was added\ngene: MYBPC1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MYBPC1 were set to 23873045; 20045868; 22610851; 26661508; 31025394; 31264822\nPhenotypes for gene: MYBPC1 were set to Myopathy, congenital, with tremor MIM#618524; Lethal congenital contracture syndrome 4, MIM# 614915; Arthrogryposis, distal, type 1B 614335","entity_name":"MYBPC1","entity_type":"gene"},{"created":"2022-09-19T07:26:35.313246+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MVK was added\ngene: MVK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MVK were set to Hyperimmunoglobulin D and periodic fever syndrome, MIM#610377","entity_name":"MVK","entity_type":"gene"},{"created":"2022-09-19T07:26:35.002662+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MUTYH was added\ngene: MUTYH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MUTYH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MUTYH were set to MUTYH-associated polyposis","entity_name":"MUTYH","entity_type":"gene"},{"created":"2022-09-19T07:26:34.617363+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category A gene was added to MUT.\nAdded phenotypes Methylmalonic aciduria, mut(0) type for gene: MUT","entity_name":"MUT","entity_type":"gene"},{"created":"2022-09-19T07:26:34.097790+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MUSK was added\ngene: MUSK was added to gNBS. Sources: BeginNGS:BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MUSK were set to Congenital myasthenic syndrome, MIM#616325","entity_name":"MUSK","entity_type":"gene"},{"created":"2022-09-19T07:26:33.807457+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTTP was added\ngene: MTTP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTTP were set to Abetalipoproteinaemia","entity_name":"MTTP","entity_type":"gene"},{"created":"2022-09-19T07:26:33.597558+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTRR was added\ngene: MTRR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTRR were set to Methylmalonic aciduria and homocystinuria, MIM#236270","entity_name":"MTRR","entity_type":"gene"},{"created":"2022-09-19T07:26:33.309824+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTR was added\ngene: MTR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTR were set to Methylmalonic aciduria and homocystinuria, MIM#250940","entity_name":"MTR","entity_type":"gene"},{"created":"2022-09-19T07:26:33.024111+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTM1 was added\ngene: MTM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked","entity_name":"MTM1","entity_type":"gene"},{"created":"2022-09-19T07:26:32.595516+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MSX2 was added\ngene: MSX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MSX2 were set to Parietal foramina 1","entity_name":"MSX2","entity_type":"gene"},{"created":"2022-09-19T07:26:32.310301+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MRAP was added\ngene: MRAP was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MRAP were set to Glucocorticoid deficiency 2, MIM#\t607398","entity_name":"MRAP","entity_type":"gene"},{"created":"2022-09-19T07:26:32.017417+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPZ was added\ngene: MPZ was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MPZ were set to Charcot-Marie-Tooth disease","entity_name":"MPZ","entity_type":"gene"},{"created":"2022-09-19T07:26:31.805373+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPV17 was added\ngene: MPV17 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome, hepatic","entity_name":"MPV17","entity_type":"gene"},{"created":"2022-09-19T07:26:31.509161+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPL was added\ngene: MPL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPL were set to Amegakaryocytic thrombocytopaenia, congenital","entity_name":"MPL","entity_type":"gene"},{"created":"2022-09-19T07:26:31.005108+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPI was added\ngene: MPI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPI were set to Congenital disorder of glycosylation 1b","entity_name":"MPI","entity_type":"gene"},{"created":"2022-09-19T07:26:30.705941+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPDU1 was added\ngene: MPDU1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPDU1 were set to 11733564; 11733556; 31741824; 29721919\nPhenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211","entity_name":"MPDU1","entity_type":"gene"},{"created":"2022-09-19T07:26:30.487639+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MOCS2 was added\ngene: MOCS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency","entity_name":"MOCS2","entity_type":"gene"},{"created":"2022-09-19T07:26:30.200710+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MOCS1 was added\ngene: MOCS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency, MIM#252150","entity_name":"MOCS1","entity_type":"gene"}]}