{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1273","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1271","results":[{"created":"2021-07-14T09:07:32.433910+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8318","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATG7 as Green List (high evidence)","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:07:32.424114+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8318","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atg7 has been classified as Green List (High Evidence).","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:07:16.342961+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8317","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATG7 was added\ngene: ATG7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATG7 were set to 34161705\nPhenotypes for gene: ATG7 were set to Spinocerebellar ataxia, SCAR31, MIM#619422\nReview for gene: ATG7 was set to GREEN\nAdded comment: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk. \nSources: Literature","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-13T15:17:43.538721+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8316","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADA as ready","entity_name":"ADA","entity_type":"gene"},{"created":"2021-07-13T15:17:43.529084+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8316","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ada has been classified as Green List (High Evidence).","entity_name":"ADA","entity_type":"gene"},{"created":"2021-07-13T15:17:35.834835+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8316","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADA were changed from  to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; MONDO:0007064","entity_name":"ADA","entity_type":"gene"},{"created":"2021-07-13T15:17:15.478331+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8315","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADA were set to ","entity_name":"ADA","entity_type":"gene"},{"created":"2021-07-13T15:16:34.624166+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8314","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADA","entity_type":"gene"},{"created":"2021-07-13T15:16:17.758848+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8313","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 3007108, 3475710, 8178821, 8227344, 2783588; Phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADA","entity_type":"gene"},{"created":"2021-07-12T18:09:06.052024+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C2orf69 as ready","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:09:06.039657+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c2orf69 has been classified as Green List (High Evidence).","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:08:22.929007+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C2orf69 as Green List (high evidence)","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:08:22.907886+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c2orf69 has been classified as Green List (High Evidence).","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:08:10.653931+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C2orf69 as ready","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:08:10.643710+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c2orf69 has been classified as Green List (High Evidence).","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:07:56.890010+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C2orf69 as Green List (high evidence)","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:07:56.881091+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c2orf69 has been classified as Green List (High Evidence).","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:07:29.830790+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C2orf69 was added\ngene: C2orf69 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C2orf69 were set to 34038740; 33945503\nPhenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423\nReview for gene: C2orf69 was set to GREEN\nAdded comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.\r\n\r\nPMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures. \nSources: Literature","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:07:17.126185+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C2orf69 was added\ngene: C2orf69 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C2orf69 were set to 34038740; 33945503\nPhenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423\nReview for gene: C2orf69 was set to GREEN\nAdded comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.\r\n\r\nPMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures. \nSources: Literature","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:04:38.903342+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1141","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C2orf69 as Green List (high evidence)","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:04:38.894283+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1141","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c2orf69 has been classified as Green List (High Evidence).","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:03:56.216660+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3976","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C2orf69 as ready","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:03:56.206564+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3976","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c2orf69 has been classified as Green List (High Evidence).","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:03:48.770140+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3976","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C2orf69 as Green List (high evidence)","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:03:48.760811+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3976","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c2orf69 has been classified as Green List (High Evidence).","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:03:20.068478+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1140","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C2orf69 was added\ngene: C2orf69 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C2orf69 were set to 34038740; 33945503\nPhenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423\nReview for gene: C2orf69 was set to GREEN\nAdded comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.\r\n\r\nPMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures. \nSources: Literature","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:03:06.768955+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8313","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C2orf69 as ready","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:03:06.759570+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8313","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c2orf69 has been classified as Green List (High Evidence).","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:02:53.839031+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8313","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C2orf69 as Green List (high evidence)","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:02:53.828467+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8313","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c2orf69 has been classified as Green List (High Evidence).","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:02:44.702590+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3975","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C2orf69 was added\ngene: C2orf69 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C2orf69 were set to 34038740; 33945503\nPhenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423\nReview for gene: C2orf69 was set to GREEN\nAdded comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.\r\n\r\nPMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures. \nSources: Literature","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T18:00:26.288635+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8312","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C2orf69 was added\ngene: C2orf69 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C2orf69 were set to 34038740; 33945503\nPhenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423\nReview for gene: C2orf69 was set to GREEN\nAdded comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.\r\n\r\nPMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures. \nSources: Literature","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T17:59:46.240995+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.640","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C2orf69 as ready","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T17:59:46.230573+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.640","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c2orf69 has been classified as Green List (High Evidence).","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T17:59:39.781725+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.640","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: C2orf69: Changed publications: 34038740, 33945503","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T17:59:17.624292+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.640","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C2orf69 were set to 34038740","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T17:55:09.082454+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.639","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C2orf69 as Green List (high evidence)","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T17:55:09.073259+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.639","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c2orf69 has been classified as Green List (High Evidence).","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-12T17:52:57.553552+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.638","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C2orf69 was added\ngene: C2orf69 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C2orf69 were set to 34038740\nPhenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423\nReview for gene: C2orf69 was set to GREEN\nAdded comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.\r\n\r\nPMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures. \nSources: Literature","entity_name":"C2orf69","entity_type":"gene"},{"created":"2021-07-11T16:34:39.810361+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3974","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KDM3B were changed from Intellectual disability; dysmorphic features; short stature; no OMIM number yet to Diets-Jongmans syndrome, MIM# 618846; Intellectual disability; dysmorphic features; short stature","entity_name":"KDM3B","entity_type":"gene"},{"created":"2021-07-11T16:32:28.275188+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3973","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KDM3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diets-Jongmans syndrome, MIM# 618846, Intellectual disability, dysmorphic features, short stature, Intellectual disability, short stature, deafness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KDM3B","entity_type":"gene"},{"created":"2021-07-11T16:32:04.876283+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KDM3B were changed from Intellectual disability; short stature; deafness to Diets-Jongmans syndrome, MIM# 618846; Intellectual disability; short stature; deafness","entity_name":"KDM3B","entity_type":"gene"},{"created":"2021-07-11T16:31:32.873688+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.82","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KDM3B: Changed phenotypes: Diets-Jongmans syndrome, MIM# 618846, Intellectual disability, short stature, deafness","entity_name":"KDM3B","entity_type":"gene"},{"created":"2021-07-11T16:31:14.272351+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8311","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KDM3B were changed from Intellectual disability; dysmorphic features; short stature to Diets-Jongmans syndrome, MIM# 618846; Intellectual disability; dysmorphic features; short stature","entity_name":"KDM3B","entity_type":"gene"},{"created":"2021-07-11T16:30:51.401959+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8310","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KDM3B: Changed phenotypes: Diets-Jongmans syndrome, MIM# 618846, Intellectual disability, dysmorphic features, short stature","entity_name":"KDM3B","entity_type":"gene"},{"created":"2021-07-11T16:30:29.970855+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KDM3B as ready","entity_name":"KDM3B","entity_type":"gene"},{"created":"2021-07-11T16:30:29.961249+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdm3b has been classified as Green List (High Evidence).","entity_name":"KDM3B","entity_type":"gene"},{"created":"2021-07-11T16:30:20.970597+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KDM3B were changed from  to Diets-Jongmans syndrome, MIM#\t618846; Cancer predisposition","entity_name":"KDM3B","entity_type":"gene"},{"created":"2021-07-11T16:29:06.637663+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KDM3B as Green List (high evidence)","entity_name":"KDM3B","entity_type":"gene"},{"created":"2021-07-11T16:29:06.628601+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdm3b has been classified as Green List (High Evidence).","entity_name":"KDM3B","entity_type":"gene"},{"created":"2021-07-11T16:27:20.676283+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8310","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NYNRIN as ready","entity_name":"NYNRIN","entity_type":"gene"},{"created":"2021-07-11T16:27:20.665735+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8310","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nynrin has been classified as Amber List (Moderate Evidence).","entity_name":"NYNRIN","entity_type":"gene"},{"created":"2021-07-11T16:27:08.406695+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8310","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NYNRIN were changed from  to Wilms tumour predisposition","entity_name":"NYNRIN","entity_type":"gene"},{"created":"2021-07-11T16:26:47.154109+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8309","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NYNRIN as Amber List (moderate evidence)","entity_name":"NYNRIN","entity_type":"gene"},{"created":"2021-07-11T16:26:47.137339+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8309","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nynrin has been classified as Amber List (Moderate Evidence).","entity_name":"NYNRIN","entity_type":"gene"},{"created":"2021-07-11T16:26:15.883563+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NYNRIN as ready","entity_name":"NYNRIN","entity_type":"gene"},{"created":"2021-07-11T16:26:15.857426+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nynrin has been classified as Amber List (Moderate Evidence).","entity_name":"NYNRIN","entity_type":"gene"},{"created":"2021-07-11T16:26:12.488196+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NYNRIN were changed from  to Wilms tumour predisposition","entity_name":"NYNRIN","entity_type":"gene"},{"created":"2021-07-11T16:25:46.643299+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NYNRIN as Amber List (moderate evidence)","entity_name":"NYNRIN","entity_type":"gene"},{"created":"2021-07-11T16:25:46.634273+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nynrin has been classified as Amber List (Moderate Evidence).","entity_name":"NYNRIN","entity_type":"gene"},{"created":"2021-07-11T16:22:52.175881+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8308","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBXW7 were changed from FBXW7-related neurodevelopmental syndrome to FBXW7-related neurodevelopmental syndrome; Wilms tumour predisposition","entity_name":"FBXW7","entity_type":"gene"},{"created":"2021-07-11T16:22:29.159329+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8307","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FBXW7 were set to 33057194","entity_name":"FBXW7","entity_type":"gene"},{"created":"2021-07-11T16:22:06.713317+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8306","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FBXW7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30885698, 26482194; Phenotypes: Wilms tumour predisposition; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FBXW7","entity_type":"gene"},{"created":"2021-07-11T16:14:41.921978+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.101","user_name":"Laura Raiti","item_type":"entity","text":"gene: KDM3B was added\ngene: KDM3B was added to Cancer Predisposition_Paediatric. Sources: Literature\nMode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDM3B were set to PMID: 30885698; 29351919\nReview for gene: KDM3B was set to GREEN\nAdded comment: PMID: 30885698\r\n2 two de-novo KDM3B mutations identified. \r\n- 1 child (missense mutation) with Wilms tumour and a hyperpigmented lesion on her\r\nbuttock \r\n- 1 child (truncating variant) with hepatoblastoma, hyperpigmentation and hypopigmentation, autism, and intellectual disability \r\n\r\nPMID: 29351919\r\n2 individuals with KDM3B variants\r\n- 1 individual had a KDM3B truncating variant with acute myeloid leukaemia, mild intellectual disability, and hip dysplasia \r\n- 1 individual had a de novo missense KDM3B with Hodgkins lymphoma and\r\nmoderate intellectual disability. \r\nKDM3B is highly intolerant to both protein-truncating variants (pLI=1·00)\r\nand non-synonymous variation (Z=4·99; the Z score is the\r\ndeviation of observation from expectation for non-synonymous variants).\r\n\r\nKDM3B is involved in H3K9 demethylation, which is part of chromatin remodeling. Mutations in several components of chromatin remodeling pathways have been found to cause both syndromes characterized by ID and syndromes with cancer predisposition \nSources: Literature","entity_name":"KDM3B","entity_type":"gene"},{"created":"2021-07-11T16:00:36.694405+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8306","user_name":"Laura Raiti","item_type":"entity","text":"gene: NYNRIN was added\ngene: NYNRIN was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NYNRIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NYNRIN were set to PMID: 30885698\nReview for gene: NYNRIN was set to AMBER\nAdded comment: 3 individuals with Wilms Tumour reported (2 children from 1 family, the 3rd child from a second family). \r\nBiallelic truncating mutations in NYNRIN in three children with Wilms Tumour from two families, each parent was heterozygous for one of the mutations. \r\nOne of the affected children had an inguinal hernia and another had epilepsy, hypothyroidism, and intellectual disability. \nSources: Literature","entity_name":"NYNRIN","entity_type":"gene"},{"created":"2021-07-11T15:56:40.436143+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.101","user_name":"Laura Raiti","item_type":"entity","text":"gene: NYNRIN was added\ngene: NYNRIN was added to Cancer Predisposition_Paediatric. Sources: Literature\nMode of inheritance for gene: NYNRIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NYNRIN were set to PMID: 30885698\nReview for gene: NYNRIN was set to AMBER\nAdded comment: 3 individuals with Wilms Tumour reported (2 children from 1 family, the 3rd child from a second family). \r\nBiallelic truncating mutations in NYNRIN in three children with Wilms Tumour from two families, each parent was heterozygous for one of the mutations. \r\nOne of the affected children had an inguinal hernia and another had epilepsy, hypothyroidism, and intellectual disability. \nSources: Literature","entity_name":"NYNRIN","entity_type":"gene"},{"created":"2021-07-11T15:36:51.755223+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.101","user_name":"Laura Raiti","item_type":"entity","text":"gene: FBXW7 was added\ngene: FBXW7 was added to Cancer Predisposition_Paediatric. Sources: Literature\nMode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBXW7 were set to PMID: 30885698; PMID: 26482194\nReview for gene: FBXW7 was set to GREEN\nAdded comment: PMID: 30885698\r\n4 individuals with germline truncating variants in FBXW7. Highly intolerant to protein-truncating variants with pLI score= 1. \r\n- 1 individual developed a second malignancy (osteosarcoma) as an adult in addition to childhood Wilms tumour. \r\n- 1 individual had a de novo missense variant (a child with an extra-renal rhabdoid tumour)\r\n\r\nPMID: 26482194\r\n1 patient with Hodgkin lymphoma, adult Wilms tumour, early-onset breast cancer, and a constitutional FBXW7 deletion was reported \nSources: Literature","entity_name":"FBXW7","entity_type":"gene"},{"created":"2021-07-10T11:24:07.189141+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.82","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: YARS as ready","entity_name":"YARS","entity_type":"gene"},{"created":"2021-07-10T11:24:07.176978+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: yars has been classified as Green List (High Evidence).","entity_name":"YARS","entity_type":"gene"},{"created":"2021-07-10T11:23:59.482205+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.82","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: YARS as Green List (high evidence)","entity_name":"YARS","entity_type":"gene"},{"created":"2021-07-10T11:23:59.473697+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: yars has been classified as Green List (High Evidence).","entity_name":"YARS","entity_type":"gene"},{"created":"2021-07-10T11:23:23.912347+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.81","user_name":"Zornitza Stark","item_type":"entity","text":"gene: YARS was added\ngene: YARS was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: YARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YARS were set to 30304524; 29232904; 27633801\nPhenotypes for gene: YARS were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418\nReview for gene: YARS was set to GREEN\nAdded comment: Mono-allelic variants are associated with CMT. However, 10 individuals from three unrelated families reported with bi-allelic variants and a severe phenotype, comprising ID, nystagmus, deafness, liver dysfunction and a range of other features. \nSources: Literature","entity_name":"YARS","entity_type":"gene"},{"created":"2021-07-10T11:22:25.951537+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3973","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: YARS were changed from Intellectual disability; deafness; nystagmus; liver dysfunction to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418","entity_name":"YARS","entity_type":"gene"},{"created":"2021-07-10T11:21:42.527051+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3972","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: YARS: Changed phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418","entity_name":"YARS","entity_type":"gene"},{"created":"2021-07-10T11:21:13.537371+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8306","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: YARS were changed from Charcot-Marie-Tooth disease, dominant intermediate C\t608323; Bi-allelic variants: ID, deafness, nystagmus to Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323; MONDO:0012012; Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418","entity_name":"YARS","entity_type":"gene"},{"created":"2021-07-10T11:20:44.218483+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8305","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 5 unrelated families reported.; to: Mono-allelic disease: More than 5 unrelated families reported.","entity_name":"YARS","entity_type":"gene"},{"created":"2021-07-10T11:20:31.007518+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8305","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: YARS: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"YARS","entity_type":"gene"},{"created":"2021-07-10T11:20:20.380678+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8305","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: YARS: Changed phenotypes: Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323, MONDO:0012012, Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418","entity_name":"YARS","entity_type":"gene"},{"created":"2021-07-09T18:41:10.240730+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BBS1 as ready","entity_name":"BBS1","entity_type":"gene"},{"created":"2021-07-09T18:41:10.228734+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bbs1 has been classified as Green List (High Evidence).","entity_name":"BBS1","entity_type":"gene"},{"created":"2021-07-09T18:41:05.998787+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BBS1 were changed from  to Bardet-Biedl syndrome 1, MIM# 209900","entity_name":"BBS1","entity_type":"gene"},{"created":"2021-07-09T18:40:37.867301+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BBS1 were set to ","entity_name":"BBS1","entity_type":"gene"},{"created":"2021-07-09T18:40:06.946457+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BBS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BBS1","entity_type":"gene"},{"created":"2021-07-09T18:39:43.005774+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nSome suggestion that heterozygotes may have an increased frequency of obesity, hypertension, diabetes mellitus, and renal disease.; to: Well established gene-disease association. Renal abnormalities reported.\r\n\r\nSome suggestion that heterozygotes may have an increased frequency of obesity, hypertension, diabetes mellitus, and renal disease.","entity_name":"BBS1","entity_type":"gene"},{"created":"2021-07-09T15:38:40.855159+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3972","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERGIC3 were changed from 33710394; 31585110 to Intellectual disability","entity_name":"ERGIC3","entity_type":"gene"},{"created":"2021-07-09T15:38:12.619088+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3971","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERGIC3 were set to ERGIC3","entity_name":"ERGIC3","entity_type":"gene"},{"created":"2021-07-09T15:36:52.812225+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3970","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERGIC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33710394, 31585110; Phenotypes: Intellectual disability; Mode of inheritance: None","entity_name":"ERGIC3","entity_type":"gene"},{"created":"2021-07-09T15:31:56.952553+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3970","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZC3H14 were set to 21734151; 33710394","entity_name":"ZC3H14","entity_type":"gene"},{"created":"2021-07-09T15:31:17.363724+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3969","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZC3H14: Rating: AMBER; Mode of pathogenicity: None; Publications: 28666327; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZC3H14","entity_type":"gene"},{"created":"2021-07-09T15:30:40.658286+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8305","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZC3H14 were set to 21734151; 28666327","entity_name":"ZC3H14","entity_type":"gene"},{"created":"2021-07-09T15:30:17.335968+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8304","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZC3H14: Added comment: PMID: 33710394\r\n1 Finnish family with a hom splice variant, severe ID. Classed a VUS. No functional evidence; Changed publications: 21734151, 28666327, 33710394","entity_name":"ZC3H14","entity_type":"gene"},{"created":"2021-07-09T15:29:05.730154+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8304","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"ZC3H14","entity_type":"gene"},{"created":"2021-07-09T15:28:59.597419+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8304","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZC3H14: Added comment: Two families and a mouse model.; Changed phenotypes: Mental retardation, autosomal recessive 56, OMIM# 617125","entity_name":"ZC3H14","entity_type":"gene"},{"created":"2021-07-09T15:28:33.663657+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8304","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZC3H14: Changed publications: 21734151, 28666327","entity_name":"ZC3H14","entity_type":"gene"},{"created":"2021-07-09T15:28:08.638771+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8304","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZC3H14: Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZC3H14","entity_type":"gene"},{"created":"2021-07-09T15:27:48.222548+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8304","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZC3H14 were set to 21734151","entity_name":"ZC3H14","entity_type":"gene"},{"created":"2021-07-09T15:25:02.978688+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8303","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZC3H14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZC3H14","entity_type":"gene"},{"created":"2021-07-09T15:19:31.260564+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8302","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP1A2 as ready","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2021-07-09T15:19:31.247693+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8302","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp1a2 has been classified as Green List (High Evidence).","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2021-07-09T15:08:52.328008+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DLX5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DLX5","entity_type":"gene"}]}