{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1587","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1585","results":[{"created":"2020-09-16T08:34:51.954175+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Variable phenotype: one patient reported with neurodevelopmental disorder, autism spectrum disorder and a muscular-dystrophy-like myopathy; another with progressive encephalopathy with brain oedema. \nSources: Expert list; to: Seven unrelated cases, episodes of fever/infection prior to deterioration reported. Variable phenotype: one patient reported with neurodevelopmental disorder, autism spectrum disorder and a muscular-dystrophy-like myopathy; another with progressive encephalopathy with brain oedema. Patient cells and muscle biopsies also showed impaired mitochondrial function, higher sensitivity to metabolic stress, and decreased mitochondrial reactive oxygen species production. In vitro functional assays also conducted.Sources: Expert list","entity_name":"NAXD","entity_type":"gene"},{"created":"2020-09-16T08:34:39.238395+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4460","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NAXD: Rating: GREEN; Mode of pathogenicity: None; Publications: 30576410, 31755961, 32462209; Phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAXD","entity_type":"gene"},{"created":"2020-09-16T08:30:43.825279+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NAXD: Changed publications: 32462209, 30576410","entity_name":"NAXD","entity_type":"gene"},{"created":"2020-09-16T08:22:46.273781+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MEF2C as ready","entity_name":"MEF2C","entity_type":"gene"},{"created":"2020-09-16T08:22:46.265590+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mef2c has been classified as Green List (High Evidence).","entity_name":"MEF2C","entity_type":"gene"},{"created":"2020-09-16T08:22:42.454108+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MEF2C as Green List (high evidence)","entity_name":"MEF2C","entity_type":"gene"},{"created":"2020-09-16T08:22:42.445960+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mef2c has been classified as Green List (High Evidence).","entity_name":"MEF2C","entity_type":"gene"},{"created":"2020-09-16T08:22:34.227795+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MEF2C was added\ngene: MEF2C was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MEF2C were set to 27255693; 20333642\nPhenotypes for gene: MEF2C were set to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM#\t613443\nReview for gene: MEF2C was set to GREEN\nAdded comment: Delayed myelination and periventricular white matter hyperintensities reported in this syndrome. \nSources: Expert list","entity_name":"MEF2C","entity_type":"gene"},{"created":"2020-09-16T08:14:35.268180+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF5A as ready","entity_name":"KIF5A","entity_type":"gene"},{"created":"2020-09-16T08:14:35.259741+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif5a has been classified as Green List (High Evidence).","entity_name":"KIF5A","entity_type":"gene"},{"created":"2020-09-16T08:14:28.526472+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIF5A were set to ","entity_name":"KIF5A","entity_type":"gene"},{"created":"2020-09-16T08:14:15.418977+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27463701, 27414745; Phenotypes: Myoclonus, intractable, neonatal, MIM# 617235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KIF5A","entity_type":"gene"},{"created":"2020-09-16T08:02:03.081307+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ISCA2 as ready","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T08:02:03.059500+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: isca2 has been classified as Green List (High Evidence).","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T08:01:57.561800+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ISCA2 as Green List (high evidence)","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T08:01:57.553462+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: isca2 has been classified as Green List (High Evidence).","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T08:01:32.269019+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ISCA2 was added\ngene: ISCA2 was added to Regression. Sources: Expert Review\nMode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ISCA2 were set to 25539947; 29297947; 29122497; 29359243\nPhenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370\nReview for gene: ISCA2 was set to GREEN\nAdded comment: Over 10 unrelated families reported with bi-allelic variants in this gene and a neurodegenerative disorder that usually results in death in early childhood. Affected individuals have normal development for the first months of life, but thereafter show progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus. Patients regress to a vegetative state with lack of eye contact and speech, and poor feeding. Most patients have optic atrophy, and some may develop seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. \nSources: Expert Review","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T07:59:52.925503+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ISCA2 as ready","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T07:59:52.911429+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: isca2 has been classified as Green List (High Evidence).","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T07:59:49.841815+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ISCA2 were changed from  to Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T07:59:23.389958+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.492","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ISCA2 were set to ","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T07:58:56.721455+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.491","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ISCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T07:58:27.633868+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.490","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T07:57:43.846388+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4460","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ISCA2 as ready","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T07:57:43.838387+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4460","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: isca2 has been classified as Green List (High Evidence).","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T07:57:37.501479+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4460","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ISCA2 were changed from  to Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T07:57:19.869788+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4459","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ISCA2 were set to ","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T07:57:00.344916+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4458","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ISCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T07:56:38.654995+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4457","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T07:55:09.968694+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ISCA2 as ready","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T07:55:09.957725+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: isca2 has been classified as Green List (High Evidence).","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T07:55:06.941250+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ISCA2 were set to ","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T07:54:53.499568+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ISCA2","entity_type":"gene"},{"created":"2020-09-16T07:51:28.577643+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ISCA1 was added\ngene: ISCA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122\nPhenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM#\t617613\nReview for gene: ISCA1 was set to GREEN\nAdded comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families. \nSources: Expert Review","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-09-15T22:09:33.815049+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSPD1 as ready","entity_name":"HSPD1","entity_type":"gene"},{"created":"2020-09-15T22:09:33.806665+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hspd1 has been classified as Green List (High Evidence).","entity_name":"HSPD1","entity_type":"gene"},{"created":"2020-09-15T22:09:27.587832+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HSPD1 were set to ","entity_name":"HSPD1","entity_type":"gene"},{"created":"2020-09-15T22:09:07.896035+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HSPD1 was changed from  to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HSPD1","entity_type":"gene"},{"created":"2020-09-15T22:08:55.739786+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18571143, 27405012, 32532876, 28377887, 27405012; Phenotypes: Leukodystrophy, hypomyelinating, 4, MIM# 612233; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HSPD1","entity_type":"gene"},{"created":"2020-09-15T22:03:22.940981+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HMGCL as ready","entity_name":"HMGCL","entity_type":"gene"},{"created":"2020-09-15T22:03:22.930257+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hmgcl has been classified as Green List (High Evidence).","entity_name":"HMGCL","entity_type":"gene"},{"created":"2020-09-15T22:03:19.363534+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HMGCL were set to ","entity_name":"HMGCL","entity_type":"gene"},{"created":"2020-09-15T22:03:07.067033+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 11461194; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HMGCL","entity_type":"gene"},{"created":"2020-09-15T20:28:39.468177+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FA2H as ready","entity_name":"FA2H","entity_type":"gene"},{"created":"2020-09-15T20:28:39.458367+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fa2h has been classified as Green List (High Evidence).","entity_name":"FA2H","entity_type":"gene"},{"created":"2020-09-15T20:27:57.085989+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FA2H were set to ","entity_name":"FA2H","entity_type":"gene"},{"created":"2020-09-15T20:27:45.551793+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 31837835, 30446360, 22965561, 21592092; Phenotypes: Spastic paraplegia 35, autosomal recessive, MIM# 612319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FA2H","entity_type":"gene"},{"created":"2020-09-15T19:58:54.939732+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CNTNAP1 as ready","entity_name":"CNTNAP1","entity_type":"gene"},{"created":"2020-09-15T19:58:54.931791+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cntnap1 has been classified as Green List (High Evidence).","entity_name":"CNTNAP1","entity_type":"gene"},{"created":"2020-09-15T19:58:52.233544+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CNTNAP1 were changed from Hypomyelinating neuropathy, congenital, 3, MIM#618186 to Hypomyelinating neuropathy, congenital, 3, MIM# 618186; Lethal congenital contracture syndrome 7, MIM# 616286","entity_name":"CNTNAP1","entity_type":"gene"},{"created":"2020-09-15T19:58:36.551931+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CNTNAP1 were set to ","entity_name":"CNTNAP1","entity_type":"gene"},{"created":"2020-09-15T19:58:24.892802+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374019, 29882456; Phenotypes: Hypomyelinating neuropathy, congenital, 3, MIM# 618186, Lethal congenital contracture syndrome 7, MIM# 616286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CNTNAP1","entity_type":"gene"},{"created":"2020-09-15T19:53:50.324507+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLPP as ready","entity_name":"CLPP","entity_type":"gene"},{"created":"2020-09-15T19:53:50.314941+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clpp has been classified as Green List (High Evidence).","entity_name":"CLPP","entity_type":"gene"},{"created":"2020-09-15T19:53:41.100009+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27899912; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLPP","entity_type":"gene"},{"created":"2020-09-15T19:50:13.416542+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BOLA3 as ready","entity_name":"BOLA3","entity_type":"gene"},{"created":"2020-09-15T19:50:13.407641+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bola3 has been classified as Green List (High Evidence).","entity_name":"BOLA3","entity_type":"gene"},{"created":"2020-09-15T19:50:06.921541+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BOLA3 were set to ","entity_name":"BOLA3","entity_type":"gene"},{"created":"2020-09-15T19:49:53.390908+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BOLA3","entity_type":"gene"},{"created":"2020-09-15T19:35:27.248705+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4457","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRIMPOL as ready","entity_name":"PRIMPOL","entity_type":"gene"},{"created":"2020-09-15T19:35:27.240472+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4457","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: primpol has been classified as Amber List (Moderate Evidence).","entity_name":"PRIMPOL","entity_type":"gene"},{"created":"2020-09-15T19:35:18.576683+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4457","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRIMPOL were changed from  to Myopia 22, autosomal dominant, MIM# 615420","entity_name":"PRIMPOL","entity_type":"gene"},{"created":"2020-09-15T19:34:56.044707+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4456","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRIMPOL were set to ","entity_name":"PRIMPOL","entity_type":"gene"},{"created":"2020-09-15T19:34:35.710156+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4455","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRIMPOL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRIMPOL","entity_type":"gene"},{"created":"2020-09-15T19:34:16.926154+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4454","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRIMPOL as Amber List (moderate evidence)","entity_name":"PRIMPOL","entity_type":"gene"},{"created":"2020-09-15T19:34:16.918084+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4454","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: primpol has been classified as Amber List (Moderate Evidence).","entity_name":"PRIMPOL","entity_type":"gene"},{"created":"2020-09-15T19:33:59.671722+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4453","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRIMPOL: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopia 22, autosomal dominant, MIM# 615420; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRIMPOL","entity_type":"gene"},{"created":"2020-09-15T18:58:22.885439+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4453","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: PRIMPOL: Rating: GREEN; Mode of pathogenicity: None; Publications: 23579484, 25262353, 27230014, 32375772; Phenotypes: Myopia 22 (MIM#615420) AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRIMPOL","entity_type":"gene"},{"created":"2020-09-15T17:47:29.985917+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AIFM1 as ready","entity_name":"AIFM1","entity_type":"gene"},{"created":"2020-09-15T17:47:29.975579+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aifm1 has been classified as Green List (High Evidence).","entity_name":"AIFM1","entity_type":"gene"},{"created":"2020-09-15T17:47:27.828436+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AIFM1 were changed from hypomyelinating leukodystrophy and spondylometaphyseal dysplasia to Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232","entity_name":"AIFM1","entity_type":"gene"},{"created":"2020-09-15T17:47:16.053861+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AIFM1 were set to 28842795","entity_name":"AIFM1","entity_type":"gene"},{"created":"2020-09-15T17:46:59.376345+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28842795, 27102849; Phenotypes: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AIFM1","entity_type":"gene"},{"created":"2020-09-15T17:41:59.021753+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCD1 as ready","entity_name":"ABCD1","entity_type":"gene"},{"created":"2020-09-15T17:41:59.012095+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcd1 has been classified as Green List (High Evidence).","entity_name":"ABCD1","entity_type":"gene"},{"created":"2020-09-15T17:41:22.671758+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABCD1 as Green List (high evidence)","entity_name":"ABCD1","entity_type":"gene"},{"created":"2020-09-15T17:41:22.662773+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcd1 has been classified as Green List (High Evidence).","entity_name":"ABCD1","entity_type":"gene"},{"created":"2020-09-15T17:41:08.852207+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCD1 was added\ngene: ABCD1 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, MIM#\t300100\nReview for gene: ABCD1 was set to GREEN\nAdded comment: Well established gene-disease association, variable age of onset from childhood to adulthood. \nSources: Expert list","entity_name":"ABCD1","entity_type":"gene"},{"created":"2020-09-15T17:11:59.010545+10:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"panel","text":"Panel deleted","entity_name":null,"entity_type":null},{"created":"2020-09-15T17:00:14.354007+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4453","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNN4 as ready","entity_name":"KCNN4","entity_type":"gene"},{"created":"2020-09-15T17:00:14.339007+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4453","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnn4 has been classified as Green List (High Evidence).","entity_name":"KCNN4","entity_type":"gene"},{"created":"2020-09-15T17:00:06.755230+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4453","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNN4 as Green List (high evidence)","entity_name":"KCNN4","entity_type":"gene"},{"created":"2020-09-15T17:00:06.745813+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4453","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnn4 has been classified as Green List (High Evidence).","entity_name":"KCNN4","entity_type":"gene"},{"created":"2020-09-15T16:59:49.136903+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4452","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNN4 was added\ngene: KCNN4 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: KCNN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNN4 were set to 26148990; 26198474; 26178367\nPhenotypes for gene: KCNN4 were set to Dehydrated hereditary stomatocytosis 2, MIM#\t616689\nReview for gene: KCNN4 was set to GREEN\nAdded comment: At least three families reported. \nSources: Expert list","entity_name":"KCNN4","entity_type":"gene"},{"created":"2020-09-15T16:57:27.125146+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4451","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C15orf41 as ready","entity_name":"C15orf41","entity_type":"gene"},{"created":"2020-09-15T16:57:27.117074+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4451","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c15orf41 has been classified as Green List (High Evidence).","entity_name":"C15orf41","entity_type":"gene"},{"created":"2020-09-15T16:53:12.853426+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4451","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C15orf41 as Green List (high evidence)","entity_name":"C15orf41","entity_type":"gene"},{"created":"2020-09-15T16:53:12.842711+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4451","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c15orf41 has been classified as Green List (High Evidence).","entity_name":"C15orf41","entity_type":"gene"},{"created":"2020-09-15T16:52:55.458845+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4450","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C15orf41 was added\ngene: C15orf41 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: C15orf41 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C15orf41 were set to 23716552; 32293259; 31191338; 29885034\nPhenotypes for gene: C15orf41 were set to Dyserythropoietic anemia, congenital, type Ib, MIM#\t615631\nReview for gene: C15orf41 was set to GREEN\nAdded comment: At least 6 families reported, functional data. \nSources: Expert list","entity_name":"C15orf41","entity_type":"gene"},{"created":"2020-09-15T16:52:38.714667+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C15orf41 as ready","entity_name":"C15orf41","entity_type":"gene"},{"created":"2020-09-15T16:52:38.704813+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c15orf41 has been classified as Green List (High Evidence).","entity_name":"C15orf41","entity_type":"gene"},{"created":"2020-09-15T16:52:28.236161+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C15orf41 as Green List (high evidence)","entity_name":"C15orf41","entity_type":"gene"},{"created":"2020-09-15T16:52:28.224784+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c15orf41 has been classified as Green List (High Evidence).","entity_name":"C15orf41","entity_type":"gene"},{"created":"2020-09-15T16:51:25.207267+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C15orf41 was added\ngene: C15orf41 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: C15orf41 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C15orf41 were set to 23716552; 32293259; 31191338; 29885034\nPhenotypes for gene: C15orf41 were set to Dyserythropoietic anemia, congenital, type Ib, MIM#\t615631\nReview for gene: C15orf41 was set to GREEN\nAdded comment: At least 6 families reported, functional data. \nSources: Expert list","entity_name":"C15orf41","entity_type":"gene"},{"created":"2020-09-15T16:31:44.756714+10:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SF3B1 was added\ngene: SF3B1 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH\nMode of inheritance for gene: SF3B1 was set to Unknown\nPublications for gene: SF3B1 were set to 21995386; 28188970\nPhenotypes for gene: SF3B1 were set to 605590 Refractory anaemia with ring sideroblasts","entity_name":"SF3B1","entity_type":"gene"},{"created":"2020-09-15T16:31:44.706409+10:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HBE1 was added\ngene: HBE1 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH\nMode of inheritance for gene: HBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HBE1 were set to 17712794\nPhenotypes for gene: HBE1 were set to Epsilon-gamma-delta-beta thalassaemia","entity_name":"HBE1","entity_type":"gene"},{"created":"2020-09-15T16:31:44.653873+10:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GPX1 was added\ngene: GPX1 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH\nMode of inheritance for gene: GPX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPX1 were set to 1131421\nPhenotypes for gene: GPX1 were set to 614164 Hemolytic anemia due to glutathione peroxidase deficiency","entity_name":"GPX1","entity_type":"gene"},{"created":"2020-09-15T16:31:44.610487+10:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FTCD was added\ngene: FTCD was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH\nMode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FTCD were set to 12815595\nPhenotypes for gene: FTCD were set to 229100 Glutamate formiminotransferase deficiency","entity_name":"FTCD","entity_type":"gene"},{"created":"2020-09-15T16:31:44.566457+10:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DKC1 was added\ngene: DKC1 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,Yorkshire and North East GLH\nMode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DKC1 were set to 305000 Dyskeratosis congenita, X-linked","entity_name":"DKC1","entity_type":"gene"},{"created":"2020-09-15T16:31:44.522942+10:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYB5A was added\ngene: CYB5A was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH\nMode of inheritance for gene: CYB5A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYB5A were set to 20080843; 8168836\nPhenotypes for gene: CYB5A were set to 250790 Methemoglobinemia and ambiguous genitalia","entity_name":"CYB5A","entity_type":"gene"}]}