{"count":220806,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=184","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=182","results":[{"created":"2025-08-29T17:20:02.562403+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TMPRSS9: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TMPRSS9-related","entity_name":"TMPRSS9","entity_type":"gene"},{"created":"2025-08-29T17:17:46.493916+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.992","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM65 were changed from Mitochondrial disease, MONDO:0044970, TMEM65-related to Mitochondrial disease, MONDO:0044970, TMEM65-related","entity_name":"TMEM65","entity_type":"gene"},{"created":"2025-08-29T17:17:23.832165+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.992","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM65 were changed from Mitochondrial encephalomyopathy to Mitochondrial disease, MONDO:0044970, TMEM65-related","entity_name":"TMEM65","entity_type":"gene"},{"created":"2025-08-29T17:16:49.030581+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.991","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TMEM65: Changed phenotypes: Mitochondrial disease, MONDO:0044970, TMEM65-related","entity_name":"TMEM65","entity_type":"gene"},{"created":"2025-08-29T17:16:34.558224+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2888","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM65 were changed from Mitochondrial encephalomyopathy to Mitochondrial disease, MONDO:0044970, TMEM65-related","entity_name":"TMEM65","entity_type":"gene"},{"created":"2025-08-29T17:16:15.896311+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2887","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TMEM65: Changed phenotypes: Mitochondrial disease, MONDO:0044970, TMEM65-related","entity_name":"TMEM65","entity_type":"gene"},{"created":"2025-08-29T16:51:24.919610+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.126","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLE2 were changed from Combined immunodeficiency; Lymphopaenia; Lack of TRECS, absent proliferation in response to antigens; Hypoglobulinaemia; Recurrent infections, disseminated BCG infections; Autoimmunity; Facial dysmorphism to Combined immunodeficiency MONDO:0015131, POLE2-related","entity_name":"POLE2","entity_type":"gene"},{"created":"2025-08-29T16:50:55.409664+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.125","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POLE2: Changed phenotypes: Combined immunodeficiency MONDO:0015131, POLE2-related","entity_name":"POLE2","entity_type":"gene"},{"created":"2025-08-29T16:50:35.284353+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2887","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLE2 were changed from Combined immunodeficiency; Lymphopaenia; Lack of TRECS, absent proliferation in response to antigens; Hypoglobulinaemia; Recurrent infections, disseminated BCG infections; Autoimmunity; Facial dysmorphism to Combined immunodeficiency MONDO:0015131, POLE2-related","entity_name":"POLE2","entity_type":"gene"},{"created":"2025-08-29T16:49:35.088310+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNPLA6 as ready","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2025-08-29T16:49:35.079252+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnpla6 has been classified as Green List (High Evidence).","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2025-08-29T16:49:30.970569+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PNPLA6 were set to ","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2025-08-29T16:49:14.159377+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNPLA6 were changed from  to Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2025-08-29T16:49:04.711172+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PNPLA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2025-08-29T16:48:53.017861+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PNPLA6: Changed phenotypes: Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2025-08-29T16:47:48.015976+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2886","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNPLA6 were changed from Boucher-Neuhauser syndrome, 215470; ?Laurence-Moon syndrome, 245800; Oliver-McFarlane syndrome, 275400; Spastic paraplegia 39, autosomal recessive, 612020 to Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155; Spastic paraplegia 39, autosomal recessive MIM#612020","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2025-08-29T16:46:38.946089+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.991","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNPLA4 were changed from  to Mitochondrial disease (MONDO:0044970), PNPLA4-related","entity_name":"PNPLA4","entity_type":"gene"},{"created":"2025-08-29T16:46:05.158749+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.990","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PNPLA4: Changed phenotypes: Mitochondrial disease (MONDO:0044970), PNPLA4-related","entity_name":"PNPLA4","entity_type":"gene"},{"created":"2025-08-29T16:45:34.167572+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2885","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNPLA4 were changed from  to Mitochondrial disease (MONDO:0044970), PNPLA4-related","entity_name":"PNPLA4","entity_type":"gene"},{"created":"2025-08-29T16:44:47.075389+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2884","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNPLA3 were changed from Susceptibility to nonalcoholic fatty liver disease to Metabolic dysfunction-associated steatotic liver disease MONDO:0013209, PNPLA3-related","entity_name":"PNPLA3","entity_type":"gene"},{"created":"2025-08-29T16:31:30.352972+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2883","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: POLE2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined immunodeficiency MONDO:0015131, POLE2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POLE2","entity_type":"gene"},{"created":"2025-08-29T15:12:12.718620+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2883","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155, Spastic paraplegia 39, autosomal recessive MIM#612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2025-08-29T15:02:46.890454+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2883","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: PNPLA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disease (MONDO:0044970), PNPLA4-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PNPLA4","entity_type":"gene"},{"created":"2025-08-29T14:57:11.939934+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2883","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: PNPLA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Metabolic dysfunction-associated steatotic liver disease MONDO:0013209, PNPLA3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"PNPLA3","entity_type":"gene"},{"created":"2025-08-29T13:47:20.928336+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2883","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM173 as ready","entity_name":"TMEM173","entity_type":"gene"},{"created":"2025-08-29T13:47:20.923011+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2883","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: HGNC approved name is STING1","entity_name":"TMEM173","entity_type":"gene"},{"created":"2025-08-29T13:47:20.892831+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2883","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem173 has been classified as Green List (High Evidence).","entity_name":"TMEM173","entity_type":"gene"},{"created":"2025-08-29T13:46:58.586232+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2883","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: TMEM173.","entity_name":"TMEM173","entity_type":"gene"},{"created":"2025-08-29T12:11:34.762027+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2883","user_name":"Lucy Spencer","item_type":"entity","text":"changed review comment from: Adding HIPKD MONDO term specific for this gene; to: Adding HIPKD MONDO term specific for this gene","entity_name":"PMM2","entity_type":"gene"},{"created":"2025-08-29T12:09:20.454549+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2883","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinaemic Hypoglycaemia with polycystic kidney disease MONDO:1030000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PMM2","entity_type":"gene"},{"created":"2025-08-29T12:04:15.603323+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2883","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: PMFBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 31 MIM#618112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PMFBP1","entity_type":"gene"},{"created":"2025-08-29T11:52:58.697280+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2883","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: PLXNC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral cortical dysplasia MONDO:0017094, PLXNC1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PLXNC1","entity_type":"gene"},{"created":"2025-08-29T10:00:20.647957+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2883","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: PLXNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism, MONDO:0018555, PLXNA3-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PLXNA3","entity_type":"gene"},{"created":"2025-08-28T18:23:44.130010+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.990","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TIMM22 were changed from hypotonia; gastroesophageal reflux disease to Mitochondrial disease, MONDO:0044970, TIMM22-related","entity_name":"TIMM22","entity_type":"gene"},{"created":"2025-08-28T18:23:16.245829+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.989","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TIMM22: Changed phenotypes: Mitochondrial disease, MONDO:0044970, TIMM22-related","entity_name":"TIMM22","entity_type":"gene"},{"created":"2025-08-28T18:23:00.271131+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2883","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TIMM22 were changed from mitochondrial myopathy; hypotonia; gastroesophageal reflux disease to Mitochondrial disease, MONDO:0044970, TIMM22-related","entity_name":"TIMM22","entity_type":"gene"},{"created":"2025-08-28T18:22:37.923301+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2882","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TIMM22: Changed phenotypes: Mitochondrial disease, MONDO:0044970, TIMM22-related","entity_name":"TIMM22","entity_type":"gene"},{"created":"2025-08-28T17:29:23.567393+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2882","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: THOC1 were changed from Nonsyndromic hearing loss to Hearing loss disorder, MONDO:0005365, THOC1-related","entity_name":"THOC1","entity_type":"gene"},{"created":"2025-08-28T17:29:07.953828+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2881","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: THOC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hearing loss disorder, MONDO:0005365, THOC1-related; Mode of inheritance: None","entity_name":"THOC1","entity_type":"gene"},{"created":"2025-08-28T17:28:55.364043+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.220","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: THOC1 were changed from Nonsyndromic hearing loss to Hearing loss disorder, MONDO:0005365, THOC1-related","entity_name":"THOC1","entity_type":"gene"},{"created":"2025-08-28T17:28:36.069489+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.219","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: THOC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hearing loss disorder, MONDO:0005365, THOC1-related; Mode of inheritance: None","entity_name":"THOC1","entity_type":"gene"},{"created":"2025-08-28T14:29:19.259482+10:00","panel_name":"Genomic newborn screening: BabyScreen+","panel_id":3931,"panel_version":"1.136","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33642254; Phenotypes: Cardiomyopathy, hypertrophic, 3 MIM#115196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TPM1","entity_type":"gene"},{"created":"2025-08-28T14:22:28.830238+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.232","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TDGF1 were changed from  to Congenital nervous system disorder, MONDO:0002320, TDGF1-related","entity_name":"TDGF1","entity_type":"gene"},{"created":"2025-08-28T14:21:56.415544+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.231","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TDGF1: Changed rating: RED; Changed phenotypes: Congenital nervous system disorder, MONDO:0002320, TDGF1-related","entity_name":"TDGF1","entity_type":"gene"},{"created":"2025-08-28T14:21:36.276748+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2881","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TDGF1 were changed from Forebrain abnormalities to Congenital nervous system disorder, MONDO:0002320, TDGF1-related","entity_name":"TDGF1","entity_type":"gene"},{"created":"2025-08-28T14:21:19.659586+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2880","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: TDGF1.","entity_name":"TDGF1","entity_type":"gene"},{"created":"2025-08-28T14:21:08.883200+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2880","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TDGF1: Changed phenotypes: Congenital nervous system disorder, MONDO:0002320, TDGF1-related","entity_name":"TDGF1","entity_type":"gene"},{"created":"2025-08-28T14:20:56.760497+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TDGF1 were changed from Forebrain abnormalities to Congenital nervous system disorder, MONDO:0002320, TDGF1-related","entity_name":"TDGF1","entity_type":"gene"},{"created":"2025-08-28T14:20:35.571864+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TDGF1: Changed phenotypes: Congenital nervous system disorder, MONDO:0002320, TDGF1-related","entity_name":"TDGF1","entity_type":"gene"},{"created":"2025-08-28T14:15:02.142925+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.231","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCF7L2 were changed from Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Myopia; Abnormality of skeletal system to Neurodevelopmental disorder, MONDO:0700092, TCF7L2-related","entity_name":"TCF7L2","entity_type":"gene"},{"created":"2025-08-28T14:14:33.744903+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.230","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TCF7L2: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TCF7L2-related","entity_name":"TCF7L2","entity_type":"gene"},{"created":"2025-08-28T14:13:28.921539+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2880","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCF7L2 were changed from Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Myopia; Abnormality of skeletal system to Neurodevelopmental disorder, MONDO:0700092, TCF7L2-related","entity_name":"TCF7L2","entity_type":"gene"},{"created":"2025-08-28T14:13:08.821582+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2879","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TCF7L2: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TCF7L2-related","entity_name":"TCF7L2","entity_type":"gene"},{"created":"2025-08-28T14:11:50.090362+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCF7L1 as ready","entity_name":"TCF7L1","entity_type":"gene"},{"created":"2025-08-28T14:11:50.078845+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tcf7l1 has been classified as Red List (Low Evidence).","entity_name":"TCF7L1","entity_type":"gene"},{"created":"2025-08-28T14:11:47.880158+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCF7L1 were changed from No OMIM number; pituitary hormone deficiency to Combined pituitary deficiencies, genetic form, MONDO:0013099, TCF7L1-related","entity_name":"TCF7L1","entity_type":"gene"},{"created":"2025-08-28T14:11:37.577961+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TCF7L1 as Red List (low evidence)","entity_name":"TCF7L1","entity_type":"gene"},{"created":"2025-08-28T14:11:37.563241+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tcf7l1 has been classified as Red List (Low Evidence).","entity_name":"TCF7L1","entity_type":"gene"},{"created":"2025-08-28T14:11:29.537739+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TCF7L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined pituitary deficiencies, genetic form, MONDO:0013099, TCF7L1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TCF7L1","entity_type":"gene"},{"created":"2025-08-28T14:10:40.092647+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2879","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCF7L1 were changed from Congenital hypopituitarism to Combined pituitary deficiencies, genetic form, MONDO:0013099, TCF7L1-related","entity_name":"TCF7L1","entity_type":"gene"},{"created":"2025-08-28T14:10:21.435315+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2878","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TCF7L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined pituitary deficiencies, genetic form, MONDO:0013099, TCF7L1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TCF7L1","entity_type":"gene"},{"created":"2025-08-28T14:07:32.760912+10:00","panel_name":"Genomic newborn screening: BabyScreen+","panel_id":3931,"panel_version":"1.136","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: VCL: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32516855; Phenotypes: Cardiomyopathy, dilated, 1W MIM#611407; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"VCL","entity_type":"gene"},{"created":"2025-08-28T13:22:12.863595+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2878","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NIT1 were changed from Cerebrovascular disorder, NIT1-related (MONDO:0011057) to Brain small vessel disease 4, MIM# 621313","entity_name":"NIT1","entity_type":"gene"},{"created":"2025-08-28T13:21:58.460261+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2877","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease 4, MIM# 621313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NIT1","entity_type":"gene"},{"created":"2025-08-28T13:21:05.172061+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NIT1 were changed from Cerebrovascular disorder, NIT1-related (MONDO:0011057) to Brain small vessel disease 4, MIM# 621313","entity_name":"NIT1","entity_type":"gene"},{"created":"2025-08-28T13:20:51.359835+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease 4, MIM# 621313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NIT1","entity_type":"gene"},{"created":"2025-08-28T13:19:29.960481+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NLRP1 as ready","entity_name":"NLRP1","entity_type":"gene"},{"created":"2025-08-28T13:19:29.950151+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlrp1 has been classified as Green List (High Evidence).","entity_name":"NLRP1","entity_type":"gene"},{"created":"2025-08-28T13:19:27.732258+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NLRP1 were changed from Autoinflammation with arthritis and dyskeratosis to Autoinflammation with arthritis and dyskeratosis, MIM# 617388","entity_name":"NLRP1","entity_type":"gene"},{"created":"2025-08-28T13:19:03.529707+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NLRP1 as Green List (high evidence)","entity_name":"NLRP1","entity_type":"gene"},{"created":"2025-08-28T13:19:03.519595+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlrp1 has been classified as Green List (High Evidence).","entity_name":"NLRP1","entity_type":"gene"},{"created":"2025-08-28T13:18:32.544592+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammation with arthritis and dyskeratosis, MIM# 617388; Mode of inheritance: None","entity_name":"NLRP1","entity_type":"gene"},{"created":"2025-08-28T12:47:24.501655+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.182","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NALCN were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419) to Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419","entity_name":"NALCN","entity_type":"gene"},{"created":"2025-08-28T12:46:55.567993+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.181","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NALCN were set to 30167850","entity_name":"NALCN","entity_type":"gene"},{"created":"2025-08-28T12:46:23.056485+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.180","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NALCN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NALCN","entity_type":"gene"},{"created":"2025-08-28T12:45:54.396901+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.179","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683120, 35388452, 28327206, 27473021, 27558372; Phenotypes: Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266, Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NALCN","entity_type":"gene"},{"created":"2025-08-28T11:56:10.817068+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.21","user_name":"Peter McNaughton","item_type":"entity","text":"gene: NLRP1 was added\ngene: NLRP1 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: NLRP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NLRP1 were set to PMID: 27965258\nPhenotypes for gene: NLRP1 were set to Autoinflammation with arthritis and dyskeratosis\nReview for gene: NLRP1 was set to GREEN\nAdded comment: Given overlap autoinflammatory / auto-immune phenotype with arthritis, thyroiditis, cytopaenias, hepatosplenomegaly should be included in immune dysregulation panel in addition to autoinflammatory panel. \nSources: Literature","entity_name":"NLRP1","entity_type":"gene"},{"created":"2025-08-27T07:47:36.595979+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSNK2B as ready","entity_name":"CSNK2B","entity_type":"gene"},{"created":"2025-08-27T07:47:36.585145+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csnk2b has been classified as Green List (High Evidence).","entity_name":"CSNK2B","entity_type":"gene"},{"created":"2025-08-27T07:47:34.404395+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSNK2B were changed from intellectual disability; ataxia; epilepsy to Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732","entity_name":"CSNK2B","entity_type":"gene"},{"created":"2025-08-27T07:47:04.956048+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CSNK2B as Green List (high evidence)","entity_name":"CSNK2B","entity_type":"gene"},{"created":"2025-08-27T07:47:04.944930+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csnk2b has been classified as Green List (High Evidence).","entity_name":"CSNK2B","entity_type":"gene"},{"created":"2025-08-26T22:47:02.435512+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.44","user_name":"Boris Keren","item_type":"entity","text":"gene: CSNK2B was added\ngene: CSNK2B was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: CSNK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CSNK2B were set to PMID: 34041744\nPhenotypes for gene: CSNK2B were set to intellectual disability; ataxia; epilepsy\nPenetrance for gene: CSNK2B were set to Complete\nReview for gene: CSNK2B was set to GREEN\nAdded comment: PMID: 34041744. 25 patients with mostly de novo LoF or missenses and NDD. 25% have ataxia \nSources: Literature","entity_name":"CSNK2B","entity_type":"gene"},{"created":"2025-08-26T20:20:17.839030+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDE4D as ready","entity_name":"PDE4D","entity_type":"gene"},{"created":"2025-08-26T20:20:17.829009+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde4d has been classified as Green List (High Evidence).","entity_name":"PDE4D","entity_type":"gene"},{"created":"2025-08-26T20:20:14.492422+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDE4D were changed from  to Acrodysostosis 2, with or without hormone resistance, MIM# 614613","entity_name":"PDE4D","entity_type":"gene"},{"created":"2025-08-26T20:19:48.625698+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDE4D were set to ","entity_name":"PDE4D","entity_type":"gene"},{"created":"2025-08-26T20:19:16.847193+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDE4D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PDE4D","entity_type":"gene"},{"created":"2025-08-26T20:18:44.844253+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKAR1A as ready","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2025-08-26T20:18:44.834315+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkar1a has been classified as Green List (High Evidence).","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2025-08-26T20:18:41.874182+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRKAR1A were changed from  to Acrodysostosis 1, with or without hormone resistance, MIM# 101800","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2025-08-26T20:18:17.717005+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRKAR1A were set to ","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2025-08-26T20:17:52.846148+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRKAR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2025-08-26T20:17:20.642657+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNAS as ready","entity_name":"GNAS","entity_type":"gene"},{"created":"2025-08-26T20:17:20.632365+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnas has been classified as Green List (High Evidence).","entity_name":"GNAS","entity_type":"gene"},{"created":"2025-08-26T20:17:17.381405+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNAS were changed from  to Pseudohypoparathyroidism Ia (103580) AD; Pseudohypoparathyroidism Ib (603233) AD; Pseudohypoparathyroidism Ic (612462) AD; Pseudopseudohypoparathyroidism (612463); Osseous heteroplasia, progressive (166350) AD; Pituitary adenoma 3, multiple types, somatic (617686)","entity_name":"GNAS","entity_type":"gene"},{"created":"2025-08-26T20:17:03.498277+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNAS was changed from Unknown to Other","entity_name":"GNAS","entity_type":"gene"},{"created":"2025-08-26T20:16:19.960177+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTHLH as ready","entity_name":"PTHLH","entity_type":"gene"},{"created":"2025-08-26T20:16:19.953711+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pthlh has been classified as Green List (High Evidence).","entity_name":"PTHLH","entity_type":"gene"},{"created":"2025-08-26T20:16:17.993862+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTHLH were changed from  to Brachydactyly, type E2, MIM# 613382","entity_name":"PTHLH","entity_type":"gene"}]}