{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=632","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=630","results":[{"created":"2023-03-09T18:28:16.700721+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5185","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ywhaz has been classified as Red List (Low Evidence).","entity_name":"YWHAZ","entity_type":"gene"},{"created":"2023-03-09T18:27:16.571805+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5185","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: YWHAZ as Red List (low evidence)","entity_name":"YWHAZ","entity_type":"gene"},{"created":"2023-03-09T18:27:16.560274+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5185","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ywhaz has been classified as Red List (Low Evidence).","entity_name":"YWHAZ","entity_type":"gene"},{"created":"2023-03-09T18:18:29.559363+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.707","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIF5B were set to PMID: 35342932","entity_name":"KIF5B","entity_type":"gene"},{"created":"2023-03-09T18:14:20.100213+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLXND1 as ready","entity_name":"PLXND1","entity_type":"gene"},{"created":"2023-03-09T18:14:20.091450+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plxnd1 has been classified as Green List (High Evidence).","entity_name":"PLXND1","entity_type":"gene"},{"created":"2023-03-09T18:14:13.632388+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLXND1 as Green List (high evidence)","entity_name":"PLXND1","entity_type":"gene"},{"created":"2023-03-09T18:14:13.617093+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plxnd1 has been classified as Green List (High Evidence).","entity_name":"PLXND1","entity_type":"gene"},{"created":"2023-03-09T18:14:02.490246+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.90","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLXND1 was added\ngene: PLXND1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PLXND1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLXND1 were set to 35396997\nPhenotypes for gene: PLXND1 were set to Congenital heart disease, MONDO:0005453, PLXND1-related\nReview for gene: PLXND1 was set to GREEN\nAdded comment: 10 individuals including four fetal cases from five unrelated families were identified with biallelic variants in PLXND1 gene and they presented with cardiac defects. The most frequent defect is common arterial trunk (CAT)/truncus arteriosus. \nSources: Literature","entity_name":"PLXND1","entity_type":"gene"},{"created":"2023-03-09T18:13:50.397232+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLXND1 as ready","entity_name":"PLXND1","entity_type":"gene"},{"created":"2023-03-09T18:13:50.383113+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plxnd1 has been classified as Green List (High Evidence).","entity_name":"PLXND1","entity_type":"gene"},{"created":"2023-03-09T18:13:02.153323+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLXND1 as Green List (high evidence)","entity_name":"PLXND1","entity_type":"gene"},{"created":"2023-03-09T18:13:02.145675+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plxnd1 has been classified as Green List (High Evidence).","entity_name":"PLXND1","entity_type":"gene"},{"created":"2023-03-09T18:12:31.047972+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.273","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLXND1 was added\ngene: PLXND1 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: PLXND1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLXND1 were set to 35396997\nPhenotypes for gene: PLXND1 were set to Congenital heart disease, MONDO:0005453, PLXND1-related\nReview for gene: PLXND1 was set to GREEN\nAdded comment: 10 individuals including four fetal cases from five unrelated families were identified with biallelic variants in PLXND1 gene and they presented with cardiac defects. The most frequent defect is common arterial trunk (CAT)/truncus arteriosus. \nSources: Literature","entity_name":"PLXND1","entity_type":"gene"},{"created":"2023-03-09T18:10:40.639348+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.706","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLXND1 were changed from Möbius syndrome to Möbius syndrome, MONDO:0008006; Congenital heart disease, MONDO:0005453, PLXND1-related","entity_name":"PLXND1","entity_type":"gene"},{"created":"2023-03-09T18:09:57.545667+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.705","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLXND1 were set to 26068067","entity_name":"PLXND1","entity_type":"gene"},{"created":"2023-03-09T18:08:56.873833+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.704","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLXND1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PLXND1","entity_type":"gene"},{"created":"2023-03-09T18:08:35.037075+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.703","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PLXND1: Changed phenotypes: Möbius syndrome, Congenital heart disease, MONDO:0005453, PLXND1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PLXND1","entity_type":"gene"},{"created":"2023-03-09T18:06:13.041408+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRPM3 as ready","entity_name":"TRPM3","entity_type":"gene"},{"created":"2023-03-09T18:06:13.029738+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm3 has been classified as Green List (High Evidence).","entity_name":"TRPM3","entity_type":"gene"},{"created":"2023-03-09T18:06:10.471246+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRPM3 were changed from Intellectual disability; epilepsy; chorea; athetosis; hypotonia; dysmorphic features to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224","entity_name":"TRPM3","entity_type":"gene"},{"created":"2023-03-09T18:05:45.663331+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.221","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRPM3 as Green List (high evidence)","entity_name":"TRPM3","entity_type":"gene"},{"created":"2023-03-09T18:05:45.655749+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.221","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm3 has been classified as Green List (High Evidence).","entity_name":"TRPM3","entity_type":"gene"},{"created":"2023-03-09T18:04:10.649878+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRPM3","entity_type":"gene"},{"created":"2023-03-09T18:03:15.492175+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1958","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WDR72 as ready","entity_name":"WDR72","entity_type":"gene"},{"created":"2023-03-09T18:03:15.484580+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1958","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr72 has been classified as Green List (High Evidence).","entity_name":"WDR72","entity_type":"gene"},{"created":"2023-03-09T18:03:10.558421+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1958","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WDR72 were changed from Distal renal tubular acidosis to Amelogenesis imperfecta, type IIA3, MIM# 613211; Distal RTA MONDO:0015827","entity_name":"WDR72","entity_type":"gene"},{"created":"2023-03-09T18:02:55.849752+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1957","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WDR72 as Green List (high evidence)","entity_name":"WDR72","entity_type":"gene"},{"created":"2023-03-09T18:02:55.828028+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1957","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr72 has been classified as Green List (High Evidence).","entity_name":"WDR72","entity_type":"gene"},{"created":"2023-03-09T18:02:45.385752+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1956","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: WDR72.\nTag renal tag was added to gene: WDR72.","entity_name":"WDR72","entity_type":"gene"},{"created":"2023-03-09T18:02:33.205774+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1956","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WDR72: Rating: GREEN; Mode of pathogenicity: None; Publications: 30028003; Phenotypes: Amelogenesis imperfecta, type IIA3, MIM# 613211, Distal RTA MONDO:0015827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR72","entity_type":"gene"},{"created":"2023-03-09T17:57:14.444293+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1956","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WIPF1 as ready","entity_name":"WIPF1","entity_type":"gene"},{"created":"2023-03-09T17:57:14.437028+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1956","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wipf1 has been classified as Green List (High Evidence).","entity_name":"WIPF1","entity_type":"gene"},{"created":"2023-03-09T17:57:08.518628+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1956","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WIPF1 as Green List (high evidence)","entity_name":"WIPF1","entity_type":"gene"},{"created":"2023-03-09T17:57:08.501026+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1956","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wipf1 has been classified as Green List (High Evidence).","entity_name":"WIPF1","entity_type":"gene"},{"created":"2023-03-09T17:56:59.222875+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1955","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: WIPF1.\nTag immunological tag was added to gene: WIPF1.\nTag haematological tag was added to gene: WIPF1.","entity_name":"WIPF1","entity_type":"gene"},{"created":"2023-03-09T17:55:58.717664+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.220","user_name":"Shekeeb Mohammad","item_type":"entity","text":"gene: TRPM3 was added\ngene: TRPM3 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPM3 were set to 31278393; 35146895\nPhenotypes for gene: TRPM3 were set to Intellectual disability; epilepsy; chorea; athetosis; hypotonia; dysmorphic features\nPenetrance for gene: TRPM3 were set to Complete\nReview for gene: TRPM3 was set to GREEN\ngene: TRPM3 was marked as current diagnostic\nAdded comment: Sources: Literature","entity_name":"TRPM3","entity_type":"gene"},{"created":"2023-03-09T17:42:43.896549+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1955","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNK4 as ready","entity_name":"WNK4","entity_type":"gene"},{"created":"2023-03-09T17:42:43.889084+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1955","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnk4 has been classified as Green List (High Evidence).","entity_name":"WNK4","entity_type":"gene"},{"created":"2023-03-09T17:42:38.745129+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1955","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WNK4 as Green List (high evidence)","entity_name":"WNK4","entity_type":"gene"},{"created":"2023-03-09T17:42:38.731927+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1955","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnk4 has been classified as Green List (High Evidence).","entity_name":"WNK4","entity_type":"gene"},{"created":"2023-03-09T17:42:28.261415+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1954","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: WNK4.\nTag endocrine tag was added to gene: WNK4.","entity_name":"WNK4","entity_type":"gene"},{"created":"2023-03-09T17:40:12.737461+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1954","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZBTB24 as ready","entity_name":"ZBTB24","entity_type":"gene"},{"created":"2023-03-09T17:40:12.730140+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1954","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zbtb24 has been classified as Amber List (Moderate Evidence).","entity_name":"ZBTB24","entity_type":"gene"},{"created":"2023-03-09T17:40:06.772515+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1954","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZBTB24 as Amber List (moderate evidence)","entity_name":"ZBTB24","entity_type":"gene"},{"created":"2023-03-09T17:40:06.764344+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1954","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zbtb24 has been classified as Amber List (Moderate Evidence).","entity_name":"ZBTB24","entity_type":"gene"},{"created":"2023-03-09T17:39:55.288816+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1953","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ZBTB24.\nTag immunological tag was added to gene: ZBTB24.","entity_name":"ZBTB24","entity_type":"gene"},{"created":"2023-03-09T17:39:34.342237+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1953","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZBTB24: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZBTB24","entity_type":"gene"},{"created":"2023-03-09T17:36:20.189698+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZNF143 as ready","entity_name":"ZNF143","entity_type":"gene"},{"created":"2023-03-09T17:36:20.182007+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf143 has been classified as Red List (Low Evidence).","entity_name":"ZNF143","entity_type":"gene"},{"created":"2023-03-09T17:36:12.867318+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF143 was added\ngene: ZNF143 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review\nMode of inheritance for gene: ZNF143 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF143 were set to 27349184\nPhenotypes for gene: ZNF143 were set to Combined methylmalonic acidemia and homocystinuria, cblX like 1, MONDO:0002012, ZNF143-related\nReview for gene: ZNF143 was set to RED\nAdded comment: Single individual reported with compound heterozygous variants. \nSources: Expert Review","entity_name":"ZNF143","entity_type":"gene"},{"created":"2023-03-09T17:34:08.125872+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.703","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZNF143 as ready","entity_name":"ZNF143","entity_type":"gene"},{"created":"2023-03-09T17:34:08.114209+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.703","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf143 has been classified as Red List (Low Evidence).","entity_name":"ZNF143","entity_type":"gene"},{"created":"2023-03-09T17:33:54.808047+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.703","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF143 was added\ngene: ZNF143 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZNF143 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF143 were set to 27349184\nPhenotypes for gene: ZNF143 were set to Combined methylmalonic acidemia and homocystinuria, cblX like 1, MONDO:0002012, ZNF143-related\nReview for gene: ZNF143 was set to RED\nAdded comment: Single individual reported with compound heterozygous variants. \nSources: Literature","entity_name":"ZNF143","entity_type":"gene"},{"created":"2023-03-09T17:31:15.174589+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1953","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZNF143 as ready","entity_name":"ZNF143","entity_type":"gene"},{"created":"2023-03-09T17:31:15.166606+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1953","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf143 has been classified as Red List (Low Evidence).","entity_name":"ZNF143","entity_type":"gene"},{"created":"2023-03-09T17:30:55.400142+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1953","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZNF143 as Red List (low evidence)","entity_name":"ZNF143","entity_type":"gene"},{"created":"2023-03-09T17:30:55.387908+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1953","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf143 has been classified as Red List (Low Evidence).","entity_name":"ZNF143","entity_type":"gene"},{"created":"2023-03-09T17:30:42.046661+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1952","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZNF143: Rating: RED; Mode of pathogenicity: None; Publications: 27349184; Phenotypes: Combined methylmalonic acidemia and homocystinuria, cblX like 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZNF143","entity_type":"gene"},{"created":"2023-03-09T14:07:43.600732+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1952","user_name":"Lilian Downie","item_type":"entity","text":"gene: WDR72 was added\ngene: WDR72 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR72 were set to PMID: 30028003, PMID: 30779877, PMID:36836560, PMID: 33033857\nPhenotypes for gene: WDR72 were set to Distal renal tubular acidosis\nReview for gene: WDR72 was set to GREEN\nAdded comment: Amelogenesis imperecta - thickened and disoloured dental enamal with RTA \r\nReduced penetrance or variable expression? Some patients only have the tooth phenotype... \r\nPresents with polyuria and growth restriction \r\nTreat with oral alkali replacement therapy, potassium chloride \nSources: Expert list","entity_name":"WDR72","entity_type":"gene"},{"created":"2023-03-09T13:54:24.658126+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1952","user_name":"Lilian Downie","item_type":"entity","text":"gene: WIPF1 was added\ngene: WIPF1 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: WIPF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WIPF1 were set to PMID: 27742395, PMID: 30450104, PMID: 22231303\nPhenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome 2 MIM#614493\nReview for gene: WIPF1 was set to GREEN\nAdded comment: Infant onset \r\nrecurrent infections, thrombycytopenia and eczema \r\nImmunology testing to correlate\r\nTreatment/cure with bone marrow transplant \nSources: Expert list","entity_name":"WIPF1","entity_type":"gene"},{"created":"2023-03-09T13:36:06.718050+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1952","user_name":"Lilian Downie","item_type":"entity","text":"gene: WNK4 was added\ngene: WNK4 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: WNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WNK4 were set to PMID: 22073419, PMID: 31795491, PMID: 10869238,\nPhenotypes for gene: WNK4 were set to Pseudohypoaldosteronism, type IIB MIM#614491\nReview for gene: WNK4 was set to GREEN\nAdded comment: Hyperkalaemia and hypertension\r\nHypercalciuria\r\nHypocalcaemia\r\nDecreased bone mineral density\r\nRenal calcium stones\r\nTreatable with thiazide diuretics \r\nVariable age of onset from infancy to adulthood but highly effective treatment so leaning toward include. \nSources: Expert list","entity_name":"WNK4","entity_type":"gene"},{"created":"2023-03-09T13:18:12.057446+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1952","user_name":"Lilian Downie","item_type":"entity","text":"gene: ZBTB24 was added\ngene: ZBTB24 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZBTB24 were set to PMID: 28128455,  21906047, 21596365, 23486536\nPhenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069\nReview for gene: ZBTB24 was set to AMBER\nAdded comment: INfant onset \r\nAgammaglobulinemia, facial anomalies, and mental retardation. Facial anomalies included broad, flat nasal bridge, hypertelorism, and epicanthal folds.\r\nTreat immunoglobulin and bone marrow transplant however, this only treats the immune deficiency\r\nConsider exclusion due to untreatable ID phenotype? \nSources: Expert list","entity_name":"ZBTB24","entity_type":"gene"},{"created":"2023-03-09T13:09:57.897893+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1952","user_name":"Lilian Downie","item_type":"entity","text":"gene: ZNF143 was added\ngene: ZNF143 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: ZNF143 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF143 were set to PMID: 20301503, PMID: 27349184\nPhenotypes for gene: ZNF143 were set to Combined methylmalonic acidemia and homocystinuria, cblX like 1\nReview for gene: ZNF143 was set to RED\nAdded comment: Not in our mendeliome \r\nSingle case \nSources: Expert list","entity_name":"ZNF143","entity_type":"gene"},{"created":"2023-03-09T06:19:05.416206+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.702","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"changed review comment from: 10 individuals including four foetal cases from five unrelated families were identified with biallelic variants in PLXND1 gene and they presented with cardiac defects.  The most frequent defect is common arterial trunk (CAT), which is also known as truncus arteriosus, a conotruncal malformation characterized by a single vessel exiting both ventricles.\r\n\r\nThis gene has already been associated with PLXND1-related cardiac malformation syndrome with the confidence category of 'strong' in DD panel of Gene2Phenotype. However, no relevant phenotypes have been currently reported in OMIM.; to: 10 individuals including four foetal cases from five unrelated families were identified with biallelic variants in PLXND1 gene and they presented with cardiac defects.  The most frequent defect is common arterial trunk (CAT), which is also known as truncus arteriosus, a conotruncal malformation characterized by a single vessel exiting both ventricles.\r\n\r\nThis gene has already been associated with PLXND1-related cardiac malformation syndrome with the confidence category of 'strong' in DD panel of Gene2Phenotype. However, no relevant phenotypes have been currently reported in OMIM.","entity_name":"PLXND1","entity_type":"gene"},{"created":"2023-03-09T04:17:13.890577+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.702","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"changed review comment from: 10 individuals including four foetal cases from five unrelated families were identified with biallelic variants in PLXND1 gene and they presented with cardiac defects.  The most frequent defect is common arterial trunk (CAT), which is also known as truncus arteriosus, a conotruncal malformation characterized by a single vessel exiting both ventricles.; to: 10 individuals including four foetal cases from five unrelated families were identified with biallelic variants in PLXND1 gene and they presented with cardiac defects.  The most frequent defect is common arterial trunk (CAT), which is also known as truncus arteriosus, a conotruncal malformation characterized by a single vessel exiting both ventricles.\r\n\r\nThis gene has already been associated with PLXND1-related cardiac malformation syndrome with the confidence category of 'strong' in DD panel of Gene2Phenotype. However, no relevant phenotypes have been currently reported in OMIM.","entity_name":"PLXND1","entity_type":"gene"},{"created":"2023-03-09T04:13:16.823487+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.702","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"edited their review of gene: PLXND1: Changed phenotypes: Truncus arteriosus, HP:0001660","entity_name":"PLXND1","entity_type":"gene"},{"created":"2023-03-09T04:11:29.155469+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.702","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: PLXND1: Rating: ; Mode of pathogenicity: None; Publications: 35396997; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLXND1","entity_type":"gene"},{"created":"2023-03-09T00:57:09.385718+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.702","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: KIF5B: Rating: ; Mode of pathogenicity: None; Publications: 36018820; Phenotypes: dilated cardiomyopathy, MONDO:0005021, ophthalmoplegia, MONDO:0003425, myopathy, MONDO:0005336, Hypotonia, HP:0001252, Seizure, HP:0001250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KIF5B","entity_type":"gene"},{"created":"2023-03-08T20:31:44.481007+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5184","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"gene: YWHAZ was added\ngene: YWHAZ was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: YWHAZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: YWHAZ were set to 36001342\nPhenotypes for gene: YWHAZ were set to Intellectual disability, MONDO:0001071\nReview for gene: YWHAZ was set to RED\nAdded comment: PMID:36001342 reported one large three-generation family with intellectual disability and global developmental delay, where all affected members were identified with a heterozygous missense variant (c.147A>T/ p.Lys49Asn) in YWHAZ gene. Although there were 10 other rare variants located in 10 genes (ARHGAP4, AGPS, APOL3, CES3, DACT2, ECH1, FAM71E2, KREMEN1, YWHAZ, ZFYVE26) that co-segregated with the ID/GDD phenotype were identified in the family, they were either not present in all affected members or present in unaffected members.\r\n\r\nIn addition, computational modeling and knockdown/ knockin studies with Drosophila also confirmed the role of this YWHAZ variant in intellectual disability. \nSources: Literature","entity_name":"YWHAZ","entity_type":"gene"},{"created":"2023-03-08T16:44:39.743396+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1952","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOLR1 as ready","entity_name":"FOLR1","entity_type":"gene"},{"created":"2023-03-08T16:44:39.734834+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1952","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: folr1 has been classified as Green List (High Evidence).","entity_name":"FOLR1","entity_type":"gene"},{"created":"2023-03-08T16:44:32.255707+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1952","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOLR1 as Green List (high evidence)","entity_name":"FOLR1","entity_type":"gene"},{"created":"2023-03-08T16:44:32.243961+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1952","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: folr1 has been classified as Green List (High Evidence).","entity_name":"FOLR1","entity_type":"gene"},{"created":"2023-03-08T16:44:19.992896+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1951","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOLR1 was added\ngene: FOLR1 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, metabolic tags were added to gene: FOLR1.\nMode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FOLR1 were set to 19732866; 30420205; 27743887\nPhenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068\nReview for gene: FOLR1 was set to GREEN\nAdded comment: Folate is a neurotransmitter precursor. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.\r\n\r\nTreatment: folinic acid\r\n\r\nNon-genetic confirmatory testing: cerebrospinal fluid 5-methyltetrahydrofolate level \nSources: Expert list","entity_name":"FOLR1","entity_type":"gene"},{"created":"2023-03-08T16:38:54.665245+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1950","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FCHO1 as ready","entity_name":"FCHO1","entity_type":"gene"},{"created":"2023-03-08T16:38:54.657596+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1950","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fcho1 has been classified as Green List (High Evidence).","entity_name":"FCHO1","entity_type":"gene"},{"created":"2023-03-08T16:38:49.482579+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1950","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FCHO1 as Green List (high evidence)","entity_name":"FCHO1","entity_type":"gene"},{"created":"2023-03-08T16:38:49.474055+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1950","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fcho1 has been classified as Green List (High Evidence).","entity_name":"FCHO1","entity_type":"gene"},{"created":"2023-03-08T16:38:33.820110+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1949","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FCHO1: Changed rating: GREEN","entity_name":"FCHO1","entity_type":"gene"},{"created":"2023-03-08T16:38:20.606524+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1949","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FCHO1 was added\ngene: FCHO1 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: FCHO1.\nMode of inheritance for gene: FCHO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FCHO1 were set to 32098969; 30822429\nPhenotypes for gene: FCHO1 were set to Immunodeficiency 76, MIM# 619164\nAdded comment: More than 10 affected individuals with bi-allelic variants in this gene reported. Functional data.\r\n\r\nImmunodeficiency-76 (IMD76) is an autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features.\r\n\r\nTreatment: bone marrow transplant.\r\n\r\nNon-genetic confirmatory testing: T and B Lymphocyte and Natural Killer Cell Profile, immunoglobulin levels \nSources: Expert list","entity_name":"FCHO1","entity_type":"gene"},{"created":"2023-03-08T16:24:27.400620+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1948","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAM111A as ready","entity_name":"FAM111A","entity_type":"gene"},{"created":"2023-03-08T16:24:27.385306+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1948","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam111a has been classified as Green List (High Evidence).","entity_name":"FAM111A","entity_type":"gene"},{"created":"2023-03-08T16:24:22.073922+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1948","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAM111A as Green List (high evidence)","entity_name":"FAM111A","entity_type":"gene"},{"created":"2023-03-08T16:24:22.061719+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1948","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam111a has been classified as Green List (High Evidence).","entity_name":"FAM111A","entity_type":"gene"},{"created":"2023-03-08T16:24:04.429895+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1947","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: FAM111A.\nTag skeletal tag was added to gene: FAM111A.","entity_name":"FAM111A","entity_type":"gene"},{"created":"2023-03-08T16:23:52.169205+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1947","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAM111A was added\ngene: FAM111A was added to Baby Screen+ newborn screening. Sources: Expert Review\nMode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FAM111A were set to Kenny-Caffey syndrome, type 2, MIM# 127000\nReview for gene: FAM111A was set to GREEN\nAdded comment: Condition is characterised by impaired skeletal development with small and dense bones, short stature, ocular abnormalities, and primary hypoparathyroidism with hypocalcemia. At least 10 unrelated cases reported with de novo missense variants. Intellectual disability/developmental delay is a rare feature of the condition.\r\n\r\nTreatment: magnesium, calcium and calcitriol or alfacalcidol\r\n\r\nNon-genetic confirmatory testing: serum calcium, parathyroid hormone level, calcitonin level \nSources: Expert Review","entity_name":"FAM111A","entity_type":"gene"},{"created":"2023-03-08T15:29:28.309138+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1946","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC6L2 as ready","entity_name":"ERCC6L2","entity_type":"gene"},{"created":"2023-03-08T15:29:28.301263+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1946","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc6l2 has been classified as Amber List (Moderate Evidence).","entity_name":"ERCC6L2","entity_type":"gene"},{"created":"2023-03-08T15:29:20.182064+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1946","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERCC6L2 as Amber List (moderate evidence)","entity_name":"ERCC6L2","entity_type":"gene"},{"created":"2023-03-08T15:29:20.169295+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1946","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc6l2 has been classified as Amber List (Moderate Evidence).","entity_name":"ERCC6L2","entity_type":"gene"},{"created":"2023-03-08T15:29:07.479370+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1945","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERCC6L2 was added\ngene: ERCC6L2 was added to Baby Screen+ newborn screening. Sources: Expert Review\ntreatable, haematological tags were added to gene: ERCC6L2.\nMode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC6L2 were set to 24507776; 27185855\nPhenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, MIM#\t615715\nReview for gene: ERCC6L2 was set to AMBER\nAdded comment: Trilineage bone marrow failure, learning disabilities, and microcephaly. Three consanguineous families reported, but two with the same truncating variant, founder effect likely.\r\n\r\nTreatment: bone marrow transplant.\r\n\r\nAmber rating due to limited number of families reported. \nSources: Expert Review","entity_name":"ERCC6L2","entity_type":"gene"},{"created":"2023-03-08T15:23:16.940894+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1944","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOCK2 as ready","entity_name":"DOCK2","entity_type":"gene"},{"created":"2023-03-08T15:23:16.932458+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1944","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dock2 has been classified as Green List (High Evidence).","entity_name":"DOCK2","entity_type":"gene"},{"created":"2023-03-08T15:22:47.479284+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1944","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: DOCK2.\nTag immunological tag was added to gene: DOCK2.","entity_name":"DOCK2","entity_type":"gene"},{"created":"2023-03-08T15:22:37.683824+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1944","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DOCK2 as Green List (high evidence)","entity_name":"DOCK2","entity_type":"gene"},{"created":"2023-03-08T15:22:37.672456+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1944","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dock2 has been classified as Green List (High Evidence).","entity_name":"DOCK2","entity_type":"gene"},{"created":"2023-03-08T15:22:24.348251+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1943","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DOCK2 was added\ngene: DOCK2 was added to Baby Screen+ newborn screening. Sources: Expert Review\nMode of inheritance for gene: DOCK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DOCK2 were set to 26083206; 29204803; 33928462; 30826364; 30838481; 11518968\nPhenotypes for gene: DOCK2 were set to Immunodeficiency 40 MIM# 616433\nReview for gene: DOCK2 was set to GREEN\nAdded comment: 13 unrelated individuals; two mouse models; 10 biallelic mutations found (6 led to premature termination of the protein & 4 missense mutations affecting conserved residues) All patients presented with combined immunodeficiency in infancy (defective IFN-mediated immunity), early onset of invasive bacterial and viral infections, functional defects in T/B/NK cells and elevated IgM (normal IgG/IgA).\r\n\r\nTreatment: bone marrow transplant.\r\n\r\nNon-genetic confirmatory testing: T and B Lymphocyte and Natural Killer Cell Profile \nSources: Expert Review","entity_name":"DOCK2","entity_type":"gene"},{"created":"2023-03-08T15:11:14.646823+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1942","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNASE2 as ready","entity_name":"DNASE2","entity_type":"gene"},{"created":"2023-03-08T15:11:14.627578+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1942","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnase2 has been classified as Green List (High Evidence).","entity_name":"DNASE2","entity_type":"gene"}]}