{"count":220892,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1619","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1617","results":[{"created":"2020-09-02T09:44:01.631337+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.380","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ripor2 has been classified as Amber List (Moderate Evidence).","entity_name":"RIPOR2","entity_type":"gene"},{"created":"2020-09-02T09:43:47.325211+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.380","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RIPOR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RIPOR2","entity_type":"gene"},{"created":"2020-09-02T09:42:22.588033+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.379","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RIPOR2 were changed from Deafness, autosomal recessive 104, MIM#\t616515 to Deafness, autosomal recessive 104, MIM#\t616515; Deafness, autosomal dominant","entity_name":"RIPOR2","entity_type":"gene"},{"created":"2020-09-02T09:41:53.657621+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4109","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RIPOR2 were changed from Deafness, autosomal recessive 104, MIM# 616515 to Deafness, autosomal recessive 104, MIM# 616515; Deafness, autosomal dominant","entity_name":"RIPOR2","entity_type":"gene"},{"created":"2020-09-02T09:41:39.871748+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.378","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RIPOR2 were set to 24958875","entity_name":"RIPOR2","entity_type":"gene"},{"created":"2020-09-02T09:41:12.041663+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.377","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: RIPOR2.","entity_name":"RIPOR2","entity_type":"gene"},{"created":"2020-09-02T09:40:11.854383+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.377","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Single family and animal model data. \nSources: Expert list; to: Single family with bi-allelic variants and animal model data. \r\nSources: Expert list","entity_name":"RIPOR2","entity_type":"gene"},{"created":"2020-09-02T09:40:00.202990+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.377","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RIPOR2: Added comment: PMID: 32631815 (2020) - A heterozygous 12 nucleotide in-frame deletion (c.1696_1707del, p.Gln566_Lys569del) in RIPOR2 was detected in 12 families of Dutch origin with non-syndromic hearing loss.\r\n\r\nIn total, the variant was detected in 59/63 affected participants, but also in five unaffected subjects from three family. Age of onset was highly variable, from congenital to 70 years (mean age: 30.6 years) - unaffected family members who harboured the variant were aged 23, 40, 49, 50, and 51 years, respectively. The authors speculate that the four affected subjects without the variant represent phenocopies. The presence of an identical variant in 12 families of common origin, as well as haplotype analysis, indicates a founder effect.\r\n\r\nFunctional analysis of the variant showed aberrant localisation of mutant-RIPOR2 in early postnatal mouse hair cells, ex vivo; and failure to rescue the stereocilia defects of Ripor2 knockout mice, in contrast to the rescue effect observed in cells expressing wild-type RIPOR2.; Changed publications: 24958875, 32631815; Changed phenotypes: Deafness, autosomal recessive 104, MIM# 616515, Deafness, autosomal dominant","entity_name":"RIPOR2","entity_type":"gene"},{"created":"2020-09-02T09:38:49.056846+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4108","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Single family and animal model data. \nSources: Expert list; to: Single family with bi-allelic variants and animal model data. \r\nSources: Expert list","entity_name":"RIPOR2","entity_type":"gene"},{"created":"2020-09-02T09:38:21.091546+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4108","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RIPOR2 as ready","entity_name":"RIPOR2","entity_type":"gene"},{"created":"2020-09-02T09:38:21.087529+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4108","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Insufficient evidence for Green rating for either MOI.","entity_name":"RIPOR2","entity_type":"gene"},{"created":"2020-09-02T09:38:21.062429+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ripor2 has been classified as Amber List (Moderate Evidence).","entity_name":"RIPOR2","entity_type":"gene"},{"created":"2020-09-02T09:37:12.597054+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4108","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RIPOR2 were set to 24958875","entity_name":"RIPOR2","entity_type":"gene"},{"created":"2020-09-02T09:36:50.741551+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4107","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RIPOR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RIPOR2","entity_type":"gene"},{"created":"2020-09-02T09:36:36.914945+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4106","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: RIPOR2.","entity_name":"RIPOR2","entity_type":"gene"},{"created":"2020-09-02T09:32:21.915716+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4106","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NOTCH3 as No list","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-09-02T09:32:21.905704+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: notch3 has been removed from the panel.","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-09-02T09:27:44.323276+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOTCH3 as ready","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-09-02T09:27:44.312601+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: notch3 has been classified as Green List (High Evidence).","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-09-02T09:27:14.904098+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.268","user_name":"Ain Roesley","item_type":"entity","text":"gene: BRIP1 was added\ngene: BRIP1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRIP1 were set to Fanconi anemia, complementation group J\t(MIM#609054)\nPenetrance for gene: BRIP1 were set to unknown\nReview for gene: BRIP1 was set to GREEN\nAdded comment: 75% of Fanconi anemia (FA) patients present with microcephaly and BRIP1 contributes to approx 2% of FA diagnosis (gene reviews) \nSources: Literature","entity_name":"BRIP1","entity_type":"gene"},{"created":"2020-09-02T09:26:57.155963+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NOTCH3 were changed from  to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-09-02T09:26:23.877029+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NOTCH3 were set to ","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-09-02T09:26:03.631037+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NOTCH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-09-02T09:24:42.099490+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31960911; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-09-02T09:23:59.896619+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOTCH3 as ready","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-09-02T09:23:59.885525+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: notch3 has been classified as Green List (High Evidence).","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-09-02T09:23:57.136536+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NOTCH3 were set to ","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-09-02T09:23:46.367955+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31960911; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-09-02T08:33:08.480884+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4105","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TET2 were changed from  to Dementia; Lymphoma/myeloid malignancy","entity_name":"TET2","entity_type":"gene"},{"created":"2020-09-02T08:32:47.377132+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4104","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TET2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TET2","entity_type":"gene"},{"created":"2020-09-02T08:32:33.613414+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4103","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TET2 were set to ","entity_name":"TET2","entity_type":"gene"},{"created":"2020-09-02T08:30:04.633169+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TET2 as ready","entity_name":"TET2","entity_type":"gene"},{"created":"2020-09-02T08:30:04.617239+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tet2 has been classified as Red List (Low Evidence).","entity_name":"TET2","entity_type":"gene"},{"created":"2020-09-02T08:29:55.709341+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TET2 was added\ngene: TET2 was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for gene: TET2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TET2 were set to 32330418; 31943063\nPhenotypes for gene: TET2 were set to Dementia\nReview for gene: TET2 was set to RED\nAdded comment: Association study (PMID 32330418) found enrichment of non-coding and LoF TET2 variants in cohort of individuals with early onset dementia, unclear if this is monogenic or polygenic contribution. PMID: 31943063 - Li et al 2020 - functional studies in mice show that Tet2 depletion in the hippocampus exacerbates Alzheimer disease pathology and cognitive dysfunction at early disease stages. \nSources: Literature","entity_name":"TET2","entity_type":"gene"},{"created":"2020-09-02T08:27:55.735233+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4102","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TET2: Changed phenotypes: Dementia, Lymphoma/myeloid malignancy; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TET2","entity_type":"gene"},{"created":"2020-09-02T08:24:49.094814+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZFYVE19 as ready","entity_name":"ZFYVE19","entity_type":"gene"},{"created":"2020-09-02T08:24:49.083842+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfyve19 has been classified as Green List (High Evidence).","entity_name":"ZFYVE19","entity_type":"gene"},{"created":"2020-09-02T08:24:44.406246+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZFYVE19 as Green List (high evidence)","entity_name":"ZFYVE19","entity_type":"gene"},{"created":"2020-09-02T08:24:44.397963+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfyve19 has been classified as Green List (High Evidence).","entity_name":"ZFYVE19","entity_type":"gene"},{"created":"2020-09-02T08:24:18.943431+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZFYVE19 was added\ngene: ZFYVE19 was added to Cholestasis. Sources: Literature\nMode of inheritance for gene: ZFYVE19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFYVE19 were set to 32737136\nPhenotypes for gene: ZFYVE19 were set to Cholestasis\nReview for gene: ZFYVE19 was set to GREEN\nAdded comment: PMID: 32737136 (2020) - Nine Han Chinese children from seven families with biallelic, predicted complete LoF variants in ZFYVE19. All patients had high-GGT intrahepatic cholestasis, portal hypertension, and histopathological features of the ductal plate malformation/congenital hepatic fibrosis. ZFYVE19 depletion in cultured cells from one patient yielded centriolar and axonemal abnormalities, and immunostaining for two ciliary proteins DCDC2 and ACALT showed abnormal localisation in patient cholangiocytes, indicating this as a novel ciliopathy disorder. \nSources: Literature","entity_name":"ZFYVE19","entity_type":"gene"},{"created":"2020-09-02T08:23:41.740180+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZFYVE19 as ready","entity_name":"ZFYVE19","entity_type":"gene"},{"created":"2020-09-02T08:23:41.731794+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfyve19 has been classified as Green List (High Evidence).","entity_name":"ZFYVE19","entity_type":"gene"},{"created":"2020-09-02T08:22:47.631341+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4102","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZFYVE19 as Green List (high evidence)","entity_name":"ZFYVE19","entity_type":"gene"},{"created":"2020-09-02T08:22:47.621551+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfyve19 has been classified as Green List (High Evidence).","entity_name":"ZFYVE19","entity_type":"gene"},{"created":"2020-09-02T08:20:38.356704+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4101","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRPM7 were changed from {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, MIM# 105500 to {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, MIM# 105500; Cardiac arrhythmia, stillbirth","entity_name":"TRPM7","entity_type":"gene"},{"created":"2020-09-02T08:20:11.811463+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4100","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRPM7 were set to ","entity_name":"TRPM7","entity_type":"gene"},{"created":"2020-09-02T08:19:46.971634+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4099","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRPM7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRPM7","entity_type":"gene"},{"created":"2020-09-02T08:19:30.300830+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4098","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRPM7 as Amber List (moderate evidence)","entity_name":"TRPM7","entity_type":"gene"},{"created":"2020-09-02T08:19:30.291921+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4098","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm7 has been classified as Amber List (Moderate Evidence).","entity_name":"TRPM7","entity_type":"gene"},{"created":"2020-09-02T08:19:11.859457+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4097","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TRPM7: Added comment: Ion channel expressed in the nervous and cardiac systems. The variant associated with ALS/dementia in the Guam population, p.Thr1482Ile is present in >23,000 hets in gnomad, which is out of keeping for a rare Mendelian disorder. Note recent publication associating missense variants with cardiac arrhythmia and stillbirth, with some functional data provided to substantiate effect of variant on protein function but not necessarily establish gene-disease association.; Changed rating: AMBER; Changed publications: 32503408, 31423533; Changed phenotypes: {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, MIM# 105500, Cardiac arrhythmia, stillbirth; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRPM7","entity_type":"gene"},{"created":"2020-09-02T08:09:16.809981+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.475","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHCHD10 as ready","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2020-09-02T08:09:16.798753+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.475","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chchd10 has been classified as Green List (High Evidence).","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2020-09-02T08:09:13.053964+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.475","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHCHD10 were changed from  to Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911; Spinal muscular atrophy, Jokela type 615048; Myopathy, isolated mitochondrial, autosomal dominant 616209","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2020-09-02T08:08:49.434036+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.474","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHCHD10 were set to ","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2020-09-02T08:08:22.442048+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.473","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: CHCHD10 was changed from  to Other","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2020-09-02T08:07:56.603430+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.472","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHCHD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2020-09-02T08:07:33.466253+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.471","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: CHCHD10.","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2020-09-02T08:07:24.399374+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.471","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24934289, 25428574, 25193783, 32042922, 31690696, 30877432, 30874923, 31261376; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911, Spinal muscular atrophy, Jokela type 615048, Myopathy, isolated mitochondrial, autosomal dominant 616209; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2020-09-02T08:06:02.917214+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4097","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHCHD10 as ready","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2020-09-02T08:06:02.907587+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4097","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chchd10 has been classified as Green List (High Evidence).","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2020-09-02T08:05:55.043199+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4097","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: CHCHD10.","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2020-09-02T08:05:41.598544+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4097","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHCHD10 were changed from  to Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911; Spinal muscular atrophy, Jokela type 615048; Myopathy, isolated mitochondrial, autosomal dominant 616209","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2020-09-02T08:05:21.026818+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4096","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHCHD10 were set to ","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2020-09-02T08:04:56.488330+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4095","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: CHCHD10 was changed from  to Other","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2020-09-02T08:04:39.865173+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4094","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHCHD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2020-09-02T08:04:19.898126+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4093","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24934289, 25428574, 25193783, 32042922, 31690696, 30877432, 30874923; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911, Spinal muscular atrophy, Jokela type 615048, Myopathy, isolated mitochondrial, autosomal dominant 616209; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2020-09-02T07:51:52.703007+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2919","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADARB1 were changed from Intellectual disability; microcephaly; seizures to Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862; Intellectual disability; microcephaly; seizures","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-09-02T07:51:17.242796+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2918","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADARB1 were set to 32220291","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-09-02T07:50:23.879418+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.830","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADARB1 as ready","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-09-02T07:50:23.869028+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.830","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adarb1 has been classified as Green List (High Evidence).","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-09-02T07:50:20.349817+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.830","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADARB1 were changed from Intellectual disability; microcephaly; seizures to Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862; Intellectual disability; microcephaly; seizures","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-09-02T07:49:50.408345+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.829","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADARB1 were set to 32220291","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-09-02T07:49:00.089337+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4093","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADARB1 were changed from Intellectual disability; microcephaly; seizures to Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862; Intellectual disability; microcephaly; seizures","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-09-02T07:46:53.488053+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4092","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADARB1 were set to 32220291","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-09-02T07:45:37.973369+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADARB1 as ready","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-09-02T07:45:37.963652+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adarb1 has been classified as Green List (High Evidence).","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-09-02T07:45:34.677306+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADARB1 were changed from Intellectual disability; microcephaly; seizures to Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862; Intellectual disability; microcephaly; seizures","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-09-02T07:45:01.827237+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.267","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADARB1 were set to 32220291","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-09-02T03:26:12.043995+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4091","user_name":"Eleanor Williams","item_type":"entity","text":"changed review comment from: PMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients.  They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD.  8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype.   Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13).; to: PMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients.  They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD.  8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype.  8/13 patients showed cleft palate  Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13).","entity_name":"CTNND1","entity_type":"gene"},{"created":"2020-09-02T03:16:03.462131+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4091","user_name":"Eleanor Williams","item_type":"entity","text":"reviewed gene: CTNND1: Rating: ; Mode of pathogenicity: None; Publications: 32196547; Phenotypes: ; Mode of inheritance: None","entity_name":"CTNND1","entity_type":"gene"},{"created":"2020-09-02T02:27:05.011428+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4091","user_name":"Eleanor Williams","item_type":"entity","text":"reviewed gene: DNMT1: Rating: ; Mode of pathogenicity: None; Publications: 31984424; Phenotypes: ; Mode of inheritance: None","entity_name":"DNMT1","entity_type":"gene"},{"created":"2020-09-02T02:03:13.763044+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4091","user_name":"Arina Puzriakova","item_type":"entity","text":"reviewed gene: RIPOR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 32631815; Phenotypes: Sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","entity_name":"RIPOR2","entity_type":"gene"},{"created":"2020-09-02T01:49:03.446202+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4091","user_name":"Eleanor Williams","item_type":"entity","text":"gene: NOTCH3 was added\ngene: NOTCH3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NOTCH3 were set to 31960911\nPhenotypes for gene: NOTCH3 were set to CADASIL\nReview for gene: NOTCH3 was set to AMBER\nAdded comment: PMID: 31960911 - Gravesteijn et al 2020 - describe a family with a unique cysteine-altering NOTCH3 variant in exon 9 in 5 individuals, which is predicted to cause natural exon 9 skipping.  This mimics the therapeutic NOTCH3 cysteine correction approach and allows the effect of cysteine corrective exon skipping on NOTCH3 protein aggregation and disease severity in humans to be studied.  In this family the CADASIL phenotype was mild.  \r\n\r\nNote this gene is rated green on the Neurodegenerative disorders - adult onset panel in the Genomics England instance of PanelApp https://panelapp.genomicsengland.co.uk/panels/474/gene/NOTCH3/ \nSources: Literature","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-09-02T01:32:08.711425+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4091","user_name":"Eleanor Williams","item_type":"entity","text":"commented on gene: TET2","entity_name":"TET2","entity_type":"gene"},{"created":"2020-09-02T00:49:56.434921+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4091","user_name":"Eleanor Williams","item_type":"entity","text":"commented on gene: TRPM7: PMID: 31423533 - Cartwright et al 2020 - functional studies on four heterozygous nonsynonymous variants that were observed in TRPM7 in four individual cases of unexplained still birth which were screened for variants in 35 candidate genes in PMID: 29874177 (Munroe et al 2018). TRPM7 is a ubiquitously expressed ion channel known to regulate cardiac development and repolarization in mice.  They found two variants in TRPM7, p.G179V and p.T860M, reduce ion channel current expression, which in the case of p.T860M is likely due to rapid degradation mediated by the proteasome. In addition, the p.R494Q TRPM7 variant significantly increases TRPM7 ion channel current, in a cell-type specific manner.  They believe that TRPM7 may play a key role in ensuring correct cardiac development of the fetus.","entity_name":"TRPM7","entity_type":"gene"},{"created":"2020-09-02T00:30:18.593463+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4091","user_name":"Arina Puzriakova","item_type":"entity","text":"gene: ZFYVE19 was added\ngene: ZFYVE19 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZFYVE19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFYVE19 were set to 32737136\nPhenotypes for gene: ZFYVE19 were set to Cholestasis\nReview for gene: ZFYVE19 was set to GREEN\nAdded comment: PMID: 32737136 (2020) - Nine Han Chinese children from seven families with biallelic, predicted complete LoF variants in ZFYVE19. All patients had high-GGT intrahepatic cholestasis, portal hypertension, and histopathological features of the ductal plate malformation/congenital hepatic fibrosis.\r\n\r\nZFYVE19 depletion in cultured cells from one patient yielded centriolar and axonemal abnormalities, and immunostaining for two ciliary proteins DCDC2 and ACALT showed abnormal localisation in patient cholangiocytes, indicating this as a novel ciliopathy disorder. \nSources: Literature","entity_name":"ZFYVE19","entity_type":"gene"},{"created":"2020-09-02T00:26:39.534850+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4091","user_name":"Eleanor Williams","item_type":"entity","text":"reviewed gene: TRPM7: Rating: AMBER; Mode of pathogenicity: None; Publications: 31423533, 29874177; Phenotypes: still birth, cardiac development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"TRPM7","entity_type":"gene"},{"created":"2020-09-01T23:31:24.657772+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4091","user_name":"Eleanor Williams","item_type":"entity","text":"reviewed gene: CHCHD10: Rating: ; Mode of pathogenicity: None; Publications: 31261376; Phenotypes: ; Mode of inheritance: None","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2020-09-01T22:55:40.737321+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4091","user_name":"Arina Puzriakova","item_type":"entity","text":"reviewed gene: ADARB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32220291, 32719099; Phenotypes: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-09-01T22:55:07.814362+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2917","user_name":"Arina Puzriakova","item_type":"entity","text":"reviewed gene: ADARB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32220291, 32719099; Phenotypes: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-09-01T22:54:55.152891+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.828","user_name":"Arina Puzriakova","item_type":"entity","text":"reviewed gene: ADARB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32220291, 32719099; Phenotypes: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-09-01T22:54:34.702784+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.266","user_name":"Arina Puzriakova","item_type":"entity","text":"reviewed gene: ADARB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32220291, 32719099; Phenotypes: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-09-01T20:27:10.489693+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.266","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HDAC8 as ready","entity_name":"HDAC8","entity_type":"gene"},{"created":"2020-09-01T20:27:10.473920+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.266","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hdac8 has been classified as Green List (High Evidence).","entity_name":"HDAC8","entity_type":"gene"},{"created":"2020-09-01T20:27:05.349885+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.266","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HDAC8 as Green List (high evidence)","entity_name":"HDAC8","entity_type":"gene"},{"created":"2020-09-01T20:27:05.341766+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.266","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hdac8 has been classified as Green List (High Evidence).","entity_name":"HDAC8","entity_type":"gene"},{"created":"2020-09-01T20:26:33.604904+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HDAC8 was added\ngene: HDAC8 was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: HDAC8 were set to 24403048\nPhenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome 5, MIM#\t300882\nReview for gene: HDAC8 was set to GREEN\nAdded comment: Over 35 individuals reported, ~30% had microcephaly. \nSources: Expert list","entity_name":"HDAC8","entity_type":"gene"},{"created":"2020-09-01T20:21:30.279974+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2917","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: IARS.","entity_name":"IARS","entity_type":"gene"},{"created":"2020-09-01T20:21:08.436903+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4091","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: IARS.","entity_name":"IARS","entity_type":"gene"},{"created":"2020-09-01T20:20:23.816795+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.264","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IARS as ready","entity_name":"IARS","entity_type":"gene"}]}