{"count":220314,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=853","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=851","results":[{"created":"2022-05-06T09:57:08.715729+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAPKAPK5 were changed from Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic to Neurocardiofaciodigital syndrome, MIM# 619869","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2022-05-06T09:56:36.121264+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAPKAPK5: Changed phenotypes: Neurocardiofaciodigital syndrome, MIM# 619869","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2022-05-06T09:56:16.310427+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13862","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAPKAPK5 were changed from Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic to Neurocardiofaciodigital syndrome, MIM# 619869","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2022-05-06T09:55:53.475866+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13861","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAPKAPK5: Changed phenotypes: Neurocardiofaciodigital syndrome, MIM# 619869","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2022-05-06T09:55:36.093987+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAPKAPK5 were changed from Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic to Neurocardiofaciodigital syndrome, MIM# 619869","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2022-05-06T09:55:03.430935+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAPKAPK5: Changed phenotypes: Neurocardiofaciodigital syndrome, MIM# 619869","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2022-05-06T09:54:47.211349+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4755","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAPKAPK5 as ready","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2022-05-06T09:54:47.197771+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4755","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapkapk5 has been classified as Green List (High Evidence).","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2022-05-06T09:54:42.299451+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4755","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAPKAPK5 were changed from Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic to Neurocardiofaciodigital syndrome, MIM# 619869","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2022-05-06T09:53:59.294581+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4754","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAPKAPK5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurocardiofaciodigital syndrome, MIM# 619869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2022-05-06T09:42:19.552987+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.167","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: KCNJ2 as ready","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2022-05-06T09:42:19.542425+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.167","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kcnj2 has been classified as Green List (High Evidence).","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2022-05-06T09:42:17.167089+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.167","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: KCNJ2 as Green List (high evidence)","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2022-05-06T09:42:17.155681+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.167","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kcnj2 has been classified as Green List (High Evidence).","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2022-05-06T09:41:45.538100+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.166","user_name":"Ain Roesley","item_type":"entity","text":"gene: KCNJ2 was added\ngene: KCNJ2 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNJ2 were set to 20301441\nPhenotypes for gene: KCNJ2 were set to Andersen syndrome\tMIM#170390\nReview for gene: KCNJ2 was set to GREEN\ngene: KCNJ2 was marked as current diagnostic\nAdded comment: Established association.\r\n\r\nFrom Genereviews:\r\nAndersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. \nSources: Literature","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2022-05-06T09:35:48.748749+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13861","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: KCNJ2 were set to ","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2022-05-06T09:35:47.366793+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13861","user_name":"Ain Roesley","item_type":"entity","text":"Mode of pathogenicity for gene: KCNJ2 was changed from Other to None","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2022-05-06T09:35:30.098527+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13860","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: KCNJ2: Changed publications: 24383070","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2022-05-06T09:35:21.541337+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13860","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: well-established association, including short QT, long QT, clefting disorders, myopathy adult onset, channelopathies. tenuous association  for CPVT\r\n\r\nDominant-negative is the disease mechanism; to: well-established association, including short QT, long QT, clefting disorders, myopathy adult onset, channelopathies. tenuous association  for CPVT\r\n\r\nDominant-negative and LoF is the disease mechanism for ATS and CPVT while GoF is the mechanism for short QT","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2022-05-06T08:27:30.897167+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.129","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCAF17 as ready","entity_name":"DCAF17","entity_type":"gene"},{"created":"2022-05-06T08:27:30.874148+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcaf17 has been classified as Green List (High Evidence).","entity_name":"DCAF17","entity_type":"gene"},{"created":"2022-05-06T08:27:25.972741+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.129","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DCAF17 as Green List (high evidence)","entity_name":"DCAF17","entity_type":"gene"},{"created":"2022-05-06T08:27:25.960152+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcaf17 has been classified as Green List (High Evidence).","entity_name":"DCAF17","entity_type":"gene"},{"created":"2022-05-06T08:26:53.194036+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.128","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DCAF17 was added\ngene: DCAF17 was added to Deafness_IsolatedAndComplex. Sources: Expert Review\nMode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCAF17 were set to 19026396; 20507343; 35002959; 34877714; 34732557; 34590781\nPhenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, MIM# 241080\nReview for gene: DCAF17 was set to GREEN\nAdded comment: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder characterised by hypogonadism and ID. In Qatar, the c.436delC variant has been reported as a possible founder pathogenic variant. Multiple families from different backgrounds reported. In a cohort of 58 individuals from Qatar reported in PMID 3459078: ectodermal and endocrine (primary hypogonadism) manifestations were the most common presentations (100%), followed by diabetes mellitus (46%) and hypothyroidism (36%). Neurological manifestations were overlapping with intellectual disability (ID) being the most common (75%), followed by sensorineural hearing loss (43%) and both ID and aggressive behaviour (10%). \nSources: Expert Review","entity_name":"DCAF17","entity_type":"gene"},{"created":"2022-05-06T08:23:41.947952+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4754","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCAF17 as ready","entity_name":"DCAF17","entity_type":"gene"},{"created":"2022-05-06T08:23:41.936580+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4754","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcaf17 has been classified as Green List (High Evidence).","entity_name":"DCAF17","entity_type":"gene"},{"created":"2022-05-06T08:23:36.595617+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4754","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DCAF17 were changed from  to Woodhouse-Sakati syndrome, MIM# 241080","entity_name":"DCAF17","entity_type":"gene"},{"created":"2022-05-06T08:22:56.372539+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4753","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DCAF17 were set to ","entity_name":"DCAF17","entity_type":"gene"},{"created":"2022-05-06T08:22:21.467784+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4752","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DCAF17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DCAF17","entity_type":"gene"},{"created":"2022-05-06T08:21:43.064568+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13860","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCAF17 as ready","entity_name":"DCAF17","entity_type":"gene"},{"created":"2022-05-06T08:21:43.055447+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13860","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcaf17 has been classified as Green List (High Evidence).","entity_name":"DCAF17","entity_type":"gene"},{"created":"2022-05-06T08:21:36.738034+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4751","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 19026396, 20507343, 35002959, 34877714, 34732557, 34590781; Phenotypes: Woodhouse-Sakati syndrome, MIM# 241080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DCAF17","entity_type":"gene"},{"created":"2022-05-06T08:21:18.729622+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13860","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DCAF17 were changed from  to Woodhouse-Sakati syndrome, MIM# 241080","entity_name":"DCAF17","entity_type":"gene"},{"created":"2022-05-06T08:20:59.428418+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13859","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DCAF17 were set to ","entity_name":"DCAF17","entity_type":"gene"},{"created":"2022-05-06T08:20:40.969801+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13858","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DCAF17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DCAF17","entity_type":"gene"},{"created":"2022-05-06T08:20:07.568309+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13857","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 19026396, 20507343, 35002959, 34877714, 34732557, 34590781; Phenotypes: Woodhouse-Sakati syndrome, MIM# 241080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DCAF17","entity_type":"gene"},{"created":"2022-05-05T20:36:27.496047+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13857","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CYP2C19 as ready","entity_name":"CYP2C19","entity_type":"gene"},{"created":"2022-05-05T20:36:27.486561+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13857","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cyp2c19 has been classified as Green List (High Evidence).","entity_name":"CYP2C19","entity_type":"gene"},{"created":"2022-05-05T20:36:17.734630+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13857","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CYP2C19 were changed from  to Voriconazole","entity_name":"CYP2C19","entity_type":"gene"},{"created":"2022-05-05T20:36:17.702542+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13857","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CYP2C19 were set to ","entity_name":"CYP2C19","entity_type":"gene"},{"created":"2022-05-05T20:35:57.142232+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13857","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CYP2C19 was changed from Unknown to Other","entity_name":"CYP2C19","entity_type":"gene"},{"created":"2022-05-05T20:35:15.541902+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13856","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CYP2C19: Rating: GREEN; Mode of pathogenicity: None; Publications: 27981572, 26616742, 31549386, 31549389; Phenotypes: Voriconazole; Mode of inheritance: Other; Current diagnostic: yes","entity_name":"CYP2C19","entity_type":"gene"},{"created":"2022-05-05T20:31:48.872710+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13856","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CYP2B6 as ready","entity_name":"CYP2B6","entity_type":"gene"},{"created":"2022-05-05T20:31:48.861619+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13856","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cyp2b6 has been classified as Red List (Low Evidence).","entity_name":"CYP2B6","entity_type":"gene"},{"created":"2022-05-05T20:31:33.079627+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13856","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CYP2B6 were changed from  to Efavirenz, poor metabolism of MIM#614546","entity_name":"CYP2B6","entity_type":"gene"},{"created":"2022-05-05T20:31:11.516622+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13855","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: CYP2B6 as Red List (low evidence)","entity_name":"CYP2B6","entity_type":"gene"},{"created":"2022-05-05T20:31:11.506957+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13855","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cyp2b6 has been classified as Red List (Low Evidence).","entity_name":"CYP2B6","entity_type":"gene"},{"created":"2022-05-05T20:30:54.847960+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13854","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: No other Mendelian disease association found via punned; to: No other Mendelian disease association found via pubmed","entity_name":"CYP2B6","entity_type":"gene"},{"created":"2022-05-05T20:30:46.912695+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13854","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CYP2B6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Efavirenz, poor metabolism of MIM#614546; Mode of inheritance: None; Current diagnostic: yes","entity_name":"CYP2B6","entity_type":"gene"},{"created":"2022-05-05T20:30:32.196379+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13854","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DAZ4 as ready","entity_name":"DAZ4","entity_type":"gene"},{"created":"2022-05-05T20:30:32.187535+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13854","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: daz4 has been classified as Red List (Low Evidence).","entity_name":"DAZ4","entity_type":"gene"},{"created":"2022-05-05T20:29:46.332846+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13854","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DAZ4 as Red List (low evidence)","entity_name":"DAZ4","entity_type":"gene"},{"created":"2022-05-05T20:29:46.321658+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13854","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: daz4 has been classified as Red List (Low Evidence).","entity_name":"DAZ4","entity_type":"gene"},{"created":"2022-05-05T20:29:18.394899+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13853","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DAZ4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"DAZ4","entity_type":"gene"},{"created":"2022-05-05T20:28:15.118931+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13853","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DAZ3 as ready","entity_name":"DAZ3","entity_type":"gene"},{"created":"2022-05-05T20:28:15.095115+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13853","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: daz3 has been classified as Red List (Low Evidence).","entity_name":"DAZ3","entity_type":"gene"},{"created":"2022-05-05T20:28:03.989305+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13853","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DAZ3 as Red List (low evidence)","entity_name":"DAZ3","entity_type":"gene"},{"created":"2022-05-05T20:28:03.970807+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13853","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: daz3 has been classified as Red List (Low Evidence).","entity_name":"DAZ3","entity_type":"gene"},{"created":"2022-05-05T20:27:49.565241+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13852","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CYP2A6 as ready","entity_name":"CYP2A6","entity_type":"gene"},{"created":"2022-05-05T20:27:49.553891+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13852","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cyp2a6 has been classified as Red List (Low Evidence).","entity_name":"CYP2A6","entity_type":"gene"},{"created":"2022-05-05T20:27:43.449775+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13852","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DAZ3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"DAZ3","entity_type":"gene"},{"created":"2022-05-05T20:27:38.394138+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13852","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CYP2A6 were changed from  to Coumarin resistance MIM#122700","entity_name":"CYP2A6","entity_type":"gene"},{"created":"2022-05-05T20:27:32.094793+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13852","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: CYP2A6 as Red List (low evidence)","entity_name":"CYP2A6","entity_type":"gene"},{"created":"2022-05-05T20:27:32.084642+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13852","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cyp2a6 has been classified as Red List (Low Evidence).","entity_name":"CYP2A6","entity_type":"gene"},{"created":"2022-05-05T20:27:15.119454+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13851","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CYP2A6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coumarin resistance MIM#122700; Mode of inheritance: None; Current diagnostic: yes","entity_name":"CYP2A6","entity_type":"gene"},{"created":"2022-05-05T20:26:51.607969+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13851","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DAZ2 as ready","entity_name":"DAZ2","entity_type":"gene"},{"created":"2022-05-05T20:26:51.598829+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13851","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: daz2 has been classified as Red List (Low Evidence).","entity_name":"DAZ2","entity_type":"gene"},{"created":"2022-05-05T20:26:42.284483+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13851","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DAZ2 as Red List (low evidence)","entity_name":"DAZ2","entity_type":"gene"},{"created":"2022-05-05T20:26:42.273187+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13851","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: daz2 has been classified as Red List (Low Evidence).","entity_name":"DAZ2","entity_type":"gene"},{"created":"2022-05-05T20:26:18.694433+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13850","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DAZ2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"DAZ2","entity_type":"gene"},{"created":"2022-05-05T20:25:22.471104+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13850","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DAZ1 as ready","entity_name":"DAZ1","entity_type":"gene"},{"created":"2022-05-05T20:25:22.456228+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13850","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: daz1 has been classified as Red List (Low Evidence).","entity_name":"DAZ1","entity_type":"gene"},{"created":"2022-05-05T20:25:08.671530+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13850","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DAZ1 as Red List (low evidence)","entity_name":"DAZ1","entity_type":"gene"},{"created":"2022-05-05T20:25:08.660525+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13850","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: daz1 has been classified as Red List (Low Evidence).","entity_name":"DAZ1","entity_type":"gene"},{"created":"2022-05-05T20:24:28.238336+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13849","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DAZ1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"DAZ1","entity_type":"gene"},{"created":"2022-05-05T20:24:02.004444+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13849","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis MIM#213700; Disorders of bile acid biosynthesis to Cerebrotendinous xanthomatosis MIM#213700; Disorders of bile acid biosynthesis","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2022-05-05T20:24:00.979103+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13848","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CYP27A1 as ready","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2022-05-05T20:24:00.965382+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13848","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cyp27a1 has been classified as Green List (High Evidence).","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2022-05-05T20:23:28.517984+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13848","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CYP27A1 were changed from  to Cerebrotendinous xanthomatosis MIM#213700; Disorders of bile acid biosynthesis","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2022-05-05T20:23:15.262838+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13847","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CYP27A1 were set to ","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2022-05-05T20:23:10.699322+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13847","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CYP27A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2022-05-05T20:22:25.529843+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13846","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DARS2 as ready","entity_name":"DARS2","entity_type":"gene"},{"created":"2022-05-05T20:22:25.518916+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13846","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dars2 has been classified as Green List (High Evidence).","entity_name":"DARS2","entity_type":"gene"},{"created":"2022-05-05T20:22:12.124537+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13846","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DARS2 were changed from  to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105","entity_name":"DARS2","entity_type":"gene"},{"created":"2022-05-05T20:21:50.612216+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13845","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CYP26C1 as ready","entity_name":"CYP26C1","entity_type":"gene"},{"created":"2022-05-05T20:21:50.600627+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13845","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cyp26c1 has been classified as Green List (High Evidence).","entity_name":"CYP26C1","entity_type":"gene"},{"created":"2022-05-05T20:21:48.548627+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13845","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DARS2 were set to ","entity_name":"DARS2","entity_type":"gene"},{"created":"2022-05-05T20:21:43.307419+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13845","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CYP26C1 were changed from  to Focal facial dermal dysplasia 4 MIM#614974","entity_name":"CYP26C1","entity_type":"gene"},{"created":"2022-05-05T20:21:27.522703+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13844","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DARS2","entity_type":"gene"},{"created":"2022-05-05T20:21:04.339501+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13843","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Slowly progressive disorder with variable age of onset, multiple families reported.; to: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy (Scheper et al., 2007). Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline.","entity_name":"DARS2","entity_type":"gene"},{"created":"2022-05-05T20:20:58.698734+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13843","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CYP26C1 were set to ","entity_name":"CYP26C1","entity_type":"gene"},{"created":"2022-05-05T20:20:53.663594+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13843","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CYP26C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP26C1","entity_type":"gene"},{"created":"2022-05-05T20:20:31.285015+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13842","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CYP26C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29263414, 23161670, 16530710; Phenotypes: Focal facial dermal dysplasia 4 MIM#614974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CYP26C1","entity_type":"gene"},{"created":"2022-05-05T20:20:13.363526+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13842","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17384640, 15002045, 16788019; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DARS2","entity_type":"gene"},{"created":"2022-05-05T20:18:25.197284+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13842","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: D2HGDH as ready","entity_name":"D2HGDH","entity_type":"gene"},{"created":"2022-05-05T20:18:25.182236+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13842","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: d2hgdh has been classified as Green List (High Evidence).","entity_name":"D2HGDH","entity_type":"gene"},{"created":"2022-05-05T20:18:16.166296+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13842","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: D2HGDH were changed from  to D-2-hydroxyglutaric aciduria MIM#600721","entity_name":"D2HGDH","entity_type":"gene"},{"created":"2022-05-05T20:17:48.370938+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13841","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: D2HGDH were set to ","entity_name":"D2HGDH","entity_type":"gene"},{"created":"2022-05-05T20:17:19.820365+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13840","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: D2HGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"D2HGDH","entity_type":"gene"},{"created":"2022-05-05T20:16:48.791411+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13839","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: D2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 31349060, 15609246, 20020533; Phenotypes: D-2-hydroxyglutaric aciduria MIM#600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"D2HGDH","entity_type":"gene"}]}