{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=778","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=776","results":[{"created":"2022-08-31T14:13:29.725753+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM218 as Green List (high evidence)","entity_name":"TMEM218","entity_type":"gene"},{"created":"2022-08-31T14:13:29.717399+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem218 has been classified as Green List (High Evidence).","entity_name":"TMEM218","entity_type":"gene"},{"created":"2022-08-31T14:13:04.091985+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM218 was added\ngene: TMEM218 was added to Ciliopathies. Sources: Expert Review\nMode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM218 were set to 35137054; 33791682\nPhenotypes for gene: TMEM218 were set to Joubert syndrome 39, MIM#619562; retinal dystrophy; polycystic kidneys; occipital encephalocele\nReview for gene: TMEM218 was set to GREEN\nAdded comment: More than 3 unrelated families reported, with a range of ciliopathy phenotypes, including Joubert syndrome, MKS and BBS. \nSources: Expert Review","entity_name":"TMEM218","entity_type":"gene"},{"created":"2022-08-31T13:46:59.450578+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4909","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LNPK were set to 30032983","entity_name":"LNPK","entity_type":"gene"},{"created":"2022-08-31T13:45:24.321073+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCDC82 as ready","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-31T13:45:24.308972+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc82 has been classified as Green List (High Evidence).","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-31T13:45:14.618980+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CCDC82 were changed from Intellectual disability and spastic paraparesis, no OMIM # to Neurodevelopmental disorder, MONDO:0700092, CCDC82-related","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-31T13:44:56.568619+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-31T13:44:33.212678+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.42","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CCDC82: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, CCDC82-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-31T13:44:16.577487+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4908","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCDC82 as ready","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-31T13:44:16.557144+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4908","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc82 has been classified as Green List (High Evidence).","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-31T13:43:58.554627+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4908","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CCDC82 were changed from Intellectual disability and spastic paraparesis, no OMIM # to Neurodevelopmental disorder, MONDO:0700092, CCDC82-related","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-31T13:43:20.712425+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4907","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-31T13:42:42.987729+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4906","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CCDC82: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, CCDC82-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-31T13:42:12.114202+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.270","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCDC82 as ready","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-31T13:42:12.102228+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.270","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc82 has been classified as Green List (High Evidence).","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-31T13:42:01.093225+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.270","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CCDC82 were changed from Intellectual disability and spastic paraparesis, no OMIM # to Neurodevelopmental disorder, MONDO:0700092, CCDC82-related","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-31T13:41:33.427681+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.269","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-31T13:41:05.793294+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.268","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CCDC82: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, CCDC82-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-31T13:39:15.159156+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPNT as ready","entity_name":"NPNT","entity_type":"gene"},{"created":"2022-08-31T13:39:15.146741+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npnt has been classified as Green List (High Evidence).","entity_name":"NPNT","entity_type":"gene"},{"created":"2022-08-31T13:39:11.078335+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPNT were changed from Renal agenesis, no OMIM # to Renal agenesis, MONDO:0018470, NPNT-related","entity_name":"NPNT","entity_type":"gene"},{"created":"2022-08-31T13:38:52.913239+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.62","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792","entity_name":"NPNT","entity_type":"gene"},{"created":"2022-08-31T13:38:31.352746+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NPNT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal agenesis, MONDO:0018470, NPNT-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPNT","entity_type":"gene"},{"created":"2022-08-31T13:38:08.872913+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.268","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPNT as ready","entity_name":"NPNT","entity_type":"gene"},{"created":"2022-08-31T13:38:08.864036+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.268","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npnt has been classified as Green List (High Evidence).","entity_name":"NPNT","entity_type":"gene"},{"created":"2022-08-31T13:37:57.957676+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.268","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPNT were changed from Renal agenesis, no OMIM # to Renal agenesis, MONDO:0018470, NPNT-related","entity_name":"NPNT","entity_type":"gene"},{"created":"2022-08-31T13:37:30.218651+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.267","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792","entity_name":"NPNT","entity_type":"gene"},{"created":"2022-08-31T13:37:03.373094+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.266","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NPNT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal agenesis, MONDO:0018470, NPNT-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPNT","entity_type":"gene"},{"created":"2022-08-31T13:33:04.261703+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF5B as ready","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-31T13:33:04.251620+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif5b has been classified as Green List (High Evidence).","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-31T13:33:01.349124+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF5B were changed from Kyphomelic dysplasia, no OMIM # to Skeletal dysplasia, MONDO:0018230, KIF5B-related; Kyphomelic dysplasia","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-31T13:32:29.980151+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KIF5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia, MONDO:0018230, KIF5B-related, Kyphomelic dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-31T13:31:59.247719+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.266","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF5B were changed from Skeletal dysplasia, MONDO:0018230 to Skeletal dysplasia, MONDO:0018230, KIF5B-related; Kyphomelic dysplasia","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-31T13:31:27.210768+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.265","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF5B as ready","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-31T13:31:27.202057+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.265","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif5b has been classified as Green List (High Evidence).","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-31T13:31:16.813482+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.265","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF5B were changed from Kyphomelic dysplasia, no OMIM # to Skeletal dysplasia, MONDO:0018230","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-31T13:30:53.762543+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.264","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KIF5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia, MONDO:0018230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-31T07:09:55.686779+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL9A3 were changed from Stickler syndrome; Cleft palate to Stickler syndrome, type VI, MIM# 620022","entity_name":"COL9A3","entity_type":"gene"},{"created":"2022-08-31T07:09:43.135472+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COL9A3: Changed phenotypes: Stickler syndrome, type VI, MIM# 620022","entity_name":"COL9A3","entity_type":"gene"},{"created":"2022-08-31T07:09:20.607053+10:00","panel_name":"Stickler Syndrome","panel_id":3114,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL9A3 were changed from Stickler syndrome, AR; Deafness, AD; Peripheral vitreoretinal degeneration and retinal detachment, AD to Stickler syndrome, type VI, MIM# 620022; Deafness, AD; Peripheral vitreoretinal degeneration and retinal detachment, AD","entity_name":"COL9A3","entity_type":"gene"},{"created":"2022-08-31T07:09:02.094429+10:00","panel_name":"Stickler Syndrome","panel_id":3114,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COL9A3: Changed phenotypes: Stickler syndrome, type VI, MIM# 620022, Deafness, AD, Peripheral vitreoretinal degeneration and retinal detachment, AD","entity_name":"COL9A3","entity_type":"gene"},{"created":"2022-08-31T07:08:42.664326+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.144","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL9A3 were changed from Stickler syndrome to Stickler syndrome, type VI, MIM# 620022","entity_name":"COL9A3","entity_type":"gene"},{"created":"2022-08-31T07:08:15.826934+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.143","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COL9A3: Changed phenotypes: Stickler syndrome, type VI, MIM# 620022","entity_name":"COL9A3","entity_type":"gene"},{"created":"2022-08-31T07:07:51.648450+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.264","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL9A3 were changed from Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969; Stickler syndrome AR; Deafness AD; Peripheral vitreoretinal degeneration and retinal detachment, AD to Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969; Stickler syndrome, type VI, MIM# 620022; Deafness AD; Peripheral vitreoretinal degeneration and retinal detachment, AD","entity_name":"COL9A3","entity_type":"gene"},{"created":"2022-08-31T07:06:55.343359+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.263","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COL9A3: Changed phenotypes: Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969, Stickler syndrome, type VI, MIM# 620022, Deafness","entity_name":"COL9A3","entity_type":"gene"},{"created":"2022-08-30T08:53:58.571783+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.263","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: LNPK as Green List (high evidence)","entity_name":"LNPK","entity_type":"gene"},{"created":"2022-08-30T08:53:58.556383+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.263","user_name":"Chirag Patel","item_type":"entity","text":"Gene: lnpk has been classified as Green List (High Evidence).","entity_name":"LNPK","entity_type":"gene"},{"created":"2022-08-30T08:38:52.477278+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.462","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: LNPK as Green List (high evidence)","entity_name":"LNPK","entity_type":"gene"},{"created":"2022-08-30T08:38:52.457145+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.462","user_name":"Chirag Patel","item_type":"entity","text":"Gene: lnpk has been classified as Green List (High Evidence).","entity_name":"LNPK","entity_type":"gene"},{"created":"2022-08-30T08:38:17.909553+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.462","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: LNPK as Green List (high evidence)","entity_name":"LNPK","entity_type":"gene"},{"created":"2022-08-30T08:38:17.901322+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.462","user_name":"Chirag Patel","item_type":"entity","text":"Gene: lnpk has been classified as Green List (High Evidence).","entity_name":"LNPK","entity_type":"gene"},{"created":"2022-08-30T08:38:15.964358+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1645","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: LNPK as Green List (high evidence)","entity_name":"LNPK","entity_type":"gene"},{"created":"2022-08-30T08:38:15.954257+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1645","user_name":"Chirag Patel","item_type":"entity","text":"Gene: lnpk has been classified as Green List (High Evidence).","entity_name":"LNPK","entity_type":"gene"},{"created":"2022-08-30T08:37:36.639290+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4906","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: LNPK as Green List (high evidence)","entity_name":"LNPK","entity_type":"gene"},{"created":"2022-08-30T08:37:36.620334+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4906","user_name":"Chirag Patel","item_type":"entity","text":"Gene: lnpk has been classified as Green List (High Evidence).","entity_name":"LNPK","entity_type":"gene"},{"created":"2022-08-30T08:36:46.287147+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.461","user_name":"Chirag Patel","item_type":"entity","text":"gene: LNPK was added\ngene: LNPK was added to Callosome. Sources: Literature\nMode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LNPK were set to PMID: 35599435, 30032983\nPhenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090\nReview for gene: LNPK was set to GREEN\nAdded comment: 3 unrelated consanguineous families with 4 affected individuals reported. WES revealed 3 novel homozygous frameshift variants in exon 10 of the LNPK gene (detected as a heterozygote in healthy parents). Some functional evidence with mRNA expression decreased in the fibroblast tissues of the affected individuals with homozygous variants and healthy heterozygous parents, with a greater rate in individuals with homozygous variants. There was no full-length protein in the affected individuals with homozygous variants detected using immunohistochemical studies. Common clinical manifestations in all cases included developmental delay, movement disorders, epilepsy, corpus callosum anomalies, and regression phenotype. \nSources: Literature","entity_name":"LNPK","entity_type":"gene"},{"created":"2022-08-30T08:36:28.778648+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.262","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35599435; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LNPK","entity_type":"gene"},{"created":"2022-08-30T08:36:26.728360+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1644","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35599435; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LNPK","entity_type":"gene"},{"created":"2022-08-30T08:36:25.164470+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4905","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35599435; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LNPK","entity_type":"gene"},{"created":"2022-08-30T08:13:10.577728+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4905","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CCDC82 as Green List (high evidence)","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-30T08:13:10.564720+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4905","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ccdc82 has been classified as Green List (High Evidence).","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-30T08:12:49.363927+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4905","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CCDC82 as Green List (high evidence)","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-30T08:12:49.356417+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4905","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ccdc82 has been classified as Green List (High Evidence).","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-30T08:11:52.747170+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.42","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CCDC82 as Green List (high evidence)","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-30T08:11:52.739410+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.42","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ccdc82 has been classified as Green List (High Evidence).","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-30T08:11:43.442418+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4904","user_name":"Chirag Patel","item_type":"entity","text":"gene: CCDC82 was added\ngene: CCDC82 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CCDC82 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812\nPhenotypes for gene: CCDC82 were set to Intellectual disability and spastic paraparesis, no OMIM #\nReview for gene: CCDC82 was set to GREEN\nAdded comment: 4 consanguineous families with 9 affected individuals with developmental delay/intellectual disability, and 2 families had spasticity and 1 had epilepsy. WES identified 3 homozgyous truncating variants, segregating with disease and parents as carriers. No functional studies. \nSources: Literature","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-30T08:11:32.957576+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.262","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CCDC82 as Green List (high evidence)","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-30T08:11:32.947660+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.262","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ccdc82 has been classified as Green List (High Evidence).","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-30T08:11:17.810262+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.41","user_name":"Chirag Patel","item_type":"entity","text":"gene: CCDC82 was added\ngene: CCDC82 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: CCDC82 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812\nPhenotypes for gene: CCDC82 were set to Intellectual disability and spastic paraparesis, no OMIM #\nReview for gene: CCDC82 was set to GREEN\nAdded comment: 4 consanguineous families with 9 affected individuals with developmental delay/intellectual disability, and 2 families had spasticity and 1 had epilepsy. WES identified 3 homozgyous truncating variants, segregating with disease and parents as carriers. No functional studies. \nSources: Literature","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-30T08:08:44.190128+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.261","user_name":"Chirag Patel","item_type":"entity","text":"gene: CCDC82 was added\ngene: CCDC82 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCDC82 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812\nPhenotypes for gene: CCDC82 were set to Intellectual disability and spastic paraparesis, no OMIM #\nReview for gene: CCDC82 was set to GREEN\nAdded comment: 4 consanguineous families with 9 affected individuals with developmental delay/intellectual disability, and 2 families had spasticity and 1 had epilepsy. WES identified 3 homozgyous truncating variants, segregating with disease and parents as carriers. No functional studies. \nSources: Literature","entity_name":"CCDC82","entity_type":"gene"},{"created":"2022-08-30T07:50:41.414195+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.260","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NPNT as Green List (high evidence)","entity_name":"NPNT","entity_type":"gene"},{"created":"2022-08-30T07:50:41.406626+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.260","user_name":"Chirag Patel","item_type":"entity","text":"Gene: npnt has been classified as Green List (High Evidence).","entity_name":"NPNT","entity_type":"gene"},{"created":"2022-08-30T07:50:41.099770+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.260","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NPNT as Green List (high evidence)","entity_name":"NPNT","entity_type":"gene"},{"created":"2022-08-30T07:50:41.090500+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.260","user_name":"Chirag Patel","item_type":"entity","text":"Gene: npnt has been classified as Green List (High Evidence).","entity_name":"NPNT","entity_type":"gene"},{"created":"2022-08-30T07:50:15.573992+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.259","user_name":"Chirag Patel","item_type":"entity","text":"gene: NPNT was added\ngene: NPNT was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NPNT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792\nPhenotypes for gene: NPNT were set to Renal agenesis, no OMIM #\nReview for gene: NPNT was set to GREEN\nAdded comment: 3 consanguineous families with multiple affecteds with bilateral renal agenesis. Whole-exome sequencing (WES)-based homozygosity mapping identified 2 homozygous truncating variants. Reverse transcription polymerase chain reaction data showing complete nonsense-mediated decay of the NPNT transcript. Loss of nephronectin (NPNT) is known to lead to failure of metanephric kidney development with resulting renal agenesis in murine models. \nSources: Literature","entity_name":"NPNT","entity_type":"gene"},{"created":"2022-08-30T07:49:28.463295+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.61","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NPNT as Green List (high evidence)","entity_name":"NPNT","entity_type":"gene"},{"created":"2022-08-30T07:49:28.455293+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.61","user_name":"Chirag Patel","item_type":"entity","text":"Gene: npnt has been classified as Green List (High Evidence).","entity_name":"NPNT","entity_type":"gene"},{"created":"2022-08-30T07:49:10.862861+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.60","user_name":"Chirag Patel","item_type":"entity","text":"gene: NPNT was added\ngene: NPNT was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: NPNT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792\nPhenotypes for gene: NPNT were set to Renal agenesis, no OMIM #\nReview for gene: NPNT was set to GREEN\nAdded comment: 3 consanguineous families with multiple affecteds with bilateral renal agenesis. Whole-exome sequencing (WES)-based homozygosity mapping identified 2 homozygous truncating variants. Reverse transcription polymerase chain reaction data showing complete nonsense-mediated decay of the NPNT transcript. Loss of nephronectin (NPNT) is known to lead to failure of metanephric kidney development with resulting renal agenesis in murine models. \nSources: Literature","entity_name":"NPNT","entity_type":"gene"},{"created":"2022-08-30T07:36:28.843409+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.258","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KIF5B as Green List (high evidence)","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-30T07:36:28.831359+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.258","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kif5b has been classified as Green List (High Evidence).","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-30T07:36:27.449050+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.258","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KIF5B as Green List (high evidence)","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-30T07:36:27.441051+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.258","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kif5b has been classified as Green List (High Evidence).","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-30T07:35:23.897178+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.257","user_name":"Chirag Patel","item_type":"entity","text":"gene: KIF5B was added\ngene: KIF5B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF5B were set to PMID: 35342932\nPhenotypes for gene: KIF5B were set to Kyphomelic dysplasia, no OMIM #\nReview for gene: KIF5B was set to GREEN\nAdded comment: 4 individuals with Kyphomelic dysplasia (severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. WES found de novo heterozygous missense variants in KIF5B encoding kinesin-1 heavy chain. All variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein. No functional studies of variants. Previously 2 animal model experiments showed that loss of function of KIF5B can cause kyphomelic dysplasia. First, chondrocyte-specific knockout of Kif5b in mice was shown to produce a disorganized growth plate, leading to bone deformity. Second, double mutants disrupting the two zebrafish kif5b caused abnormal skeletal morphogenesis and the curvature of Meckel's and ceratohyal cartilages. \nSources: Literature","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-30T07:34:24.529710+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.59","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KIF5B as Green List (high evidence)","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-30T07:34:24.500335+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.59","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kif5b has been classified as Green List (High Evidence).","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-30T07:34:10.788483+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.58","user_name":"Chirag Patel","item_type":"entity","text":"gene: KIF5B was added\ngene: KIF5B was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF5B were set to PMID: 35342932\nPhenotypes for gene: KIF5B were set to Kyphomelic dysplasia, no OMIM #\nReview for gene: KIF5B was set to GREEN\nAdded comment: 4 individuals with Kyphomelic dysplasia (severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. WES found de novo heterozygous missense variants in KIF5B encoding kinesin-1 heavy chain. All variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein. No functional studies of variants. \r\n\r\nPreviously 2 animal model experiments showed that loss of function of KIF5B can cause kyphomelic dysplasia. First, chondrocyte-specific knockout of Kif5b in mice was shown to produce a disorganized growth plate, leading to bone deformity. Second, double mutants disrupting the two zebrafish kif5b caused abnormal skeletal morphogenesis and the curvature of Meckel's and ceratohyal cartilages. \nSources: Literature","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-30T07:33:57.700769+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.183","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KIF5B as Green List (high evidence)","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-30T07:33:57.688252+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.183","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kif5b has been classified as Green List (High Evidence).","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-30T07:33:08.768701+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.182","user_name":"Chirag Patel","item_type":"entity","text":"gene: KIF5B was added\ngene: KIF5B was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF5B were set to PMID: 35342932\nPhenotypes for gene: KIF5B were set to Kyphomelic dysplasia, no OMIM #\nReview for gene: KIF5B was set to GREEN\nAdded comment: 4 individuals with Kyphomelic dysplasia (severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. WES found de novo heterozygous missense variants in KIF5B encoding kinesin-1 heavy chain. All variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein. No functional studies of variants. \r\n\r\nPreviously 2 animal model experiments showed that loss of function of KIF5B can cause kyphomelic dysplasia. First, chondrocyte-specific knockout of Kif5b in mice was shown to produce a disorganized growth plate, leading to bone deformity. Second, double mutants disrupting the two zebrafish kif5b caused abnormal skeletal morphogenesis and the curvature of Meckel's and ceratohyal cartilages. \nSources: Literature","entity_name":"KIF5B","entity_type":"gene"},{"created":"2022-08-28T17:34:38.495799+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4903","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBXW7 were changed from FBXW7-related neurodevelopmental syndrome to Developmental delay, hypotonia, and impaired language, MIM# 620012","entity_name":"FBXW7","entity_type":"gene"},{"created":"2022-08-28T17:34:07.120031+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4902","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FBXW7: Changed phenotypes: Developmental delay, hypotonia, and impaired language, MIM# 620012","entity_name":"FBXW7","entity_type":"gene"},{"created":"2022-08-28T17:33:44.362724+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.256","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBXW7 were changed from neurodevelopmental disorder MONDO:0700092; FBXW7-related neurodevelopmental syndrome; Wilms tumor MONDO:0006058 to Developmental delay, hypotonia, and impaired language, MIM# 620012; Wilms tumour predisposition","entity_name":"FBXW7","entity_type":"gene"},{"created":"2022-08-28T17:33:08.991755+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.255","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FBXW7: Changed phenotypes: Developmental delay, hypotonia, and impaired language, MIM# 620012, Wilms tumour predisposition","entity_name":"FBXW7","entity_type":"gene"},{"created":"2022-08-26T16:54:20.931448+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS13A as ready","entity_name":"VPS13A","entity_type":"gene"},{"created":"2022-08-26T16:54:20.923025+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps13a has been classified as Red List (Low Evidence).","entity_name":"VPS13A","entity_type":"gene"},{"created":"2022-08-26T16:54:17.384255+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VPS13A were set to ","entity_name":"VPS13A","entity_type":"gene"},{"created":"2022-08-26T16:54:02.230946+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VPS13A as Red List (low evidence)","entity_name":"VPS13A","entity_type":"gene"},{"created":"2022-08-26T16:54:02.220636+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps13a has been classified as Red List (Low Evidence).","entity_name":"VPS13A","entity_type":"gene"},{"created":"2022-08-26T16:53:51.969807+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: VPS13A.","entity_name":"VPS13A","entity_type":"gene"}]}