{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1481","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1479","results":[{"created":"2020-12-10T16:05:39.315892+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.956","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPIL1 was added\ngene: PPIL1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPIL1 were set to 33220177\nPhenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures\nReview for gene: PPIL1 was set to GREEN\nAdded comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association. \nSources: Literature","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T16:02:38.041475+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3274","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPIL1 as ready","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T16:02:38.030616+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3274","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppil1 has been classified as Green List (High Evidence).","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T16:02:31.700393+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3274","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPIL1 as Green List (high evidence)","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T16:02:31.689621+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3274","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppil1 has been classified as Green List (High Evidence).","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T16:02:00.599236+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3273","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPIL1 was added\ngene: PPIL1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPIL1 were set to 33220177\nPhenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures\nReview for gene: PPIL1 was set to GREEN\nAdded comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association. \nSources: Literature","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T16:00:22.164189+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.512","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPIL1 as ready","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T16:00:22.152913+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.512","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppil1 has been classified as Green List (High Evidence).","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T16:00:18.476954+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.512","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPIL1 as Green List (high evidence)","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T16:00:18.466322+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.512","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppil1 has been classified as Green List (High Evidence).","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T15:57:15.624122+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.511","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPIL1 was added\ngene: PPIL1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPIL1 were set to 33220177\nPhenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures\nReview for gene: PPIL1 was set to GREEN\nAdded comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association. \nSources: Literature","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T15:55:20.333931+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5608","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPIL1 as ready","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T15:55:20.323335+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5608","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppil1 has been classified as Green List (High Evidence).","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T15:55:11.466666+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5608","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPIL1 as Green List (high evidence)","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T15:55:11.455359+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5608","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppil1 has been classified as Green List (High Evidence).","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T15:54:53.621204+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5607","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPIL1 was added\ngene: PPIL1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPIL1 were set to 33220177\nPhenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures\nReview for gene: PPIL1 was set to GREEN\nAdded comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association. \nSources: Literature","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T15:54:35.268307+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPIL1 as ready","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T15:54:35.259326+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppil1 has been classified as Green List (High Evidence).","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T15:54:11.301498+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPIL1 as Green List (high evidence)","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T15:54:11.290540+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppil1 has been classified as Green List (High Evidence).","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T15:53:09.431903+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPIL1 was added\ngene: PPIL1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPIL1 were set to 33220177\nPhenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures\nReview for gene: PPIL1 was set to GREEN\nAdded comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association. \nSources: Literature","entity_name":"PPIL1","entity_type":"gene"},{"created":"2020-12-10T14:09:36.689515+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5606","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: FRA12A as Amber List (moderate evidence)","entity_name":"FRA12A","entity_type":"str"},{"created":"2020-12-10T14:09:36.678966+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5606","user_name":"Bryony Thompson","item_type":"entity","text":"Str: fra12a has been classified as Amber List (Moderate Evidence).","entity_name":"FRA12A","entity_type":"str"},{"created":"2020-12-10T14:08:56.741178+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5605","user_name":"Bryony Thompson","item_type":"entity","text":"STR: FRA12A was added\nSTR: FRA12A was added to Mendeliome. Sources: Other\n5'UTR tags were added to STR: FRA12A.\nMode of inheritance for STR: FRA12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: FRA12A were set to 17236128\nPhenotypes for STR: FRA12A were set to Mental retardation, FRA12A type MIM#136630\nReview for STR: FRA12A was set to AMBER\nAdded comment: NM_173602.2:c.-137CGG[X]\r\nAll individuals expressing FRA12A had CGG-repeat expansion. The length of the expanded allele in 3 unaffected FRA12A carriers was 650–850 bp. In the two affected patients from 2 families with FRA12A, the length of the expanded allele was ∼1,050-1,150 bp.\r\n70 controls used to determine the \"normal\" repeat range. \nSources: Other","entity_name":"FRA12A","entity_type":"str"},{"created":"2020-12-10T14:06:13.104615+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5604","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DIP2B as No list","entity_name":"DIP2B","entity_type":"gene"},{"created":"2020-12-10T14:06:13.101039+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5604","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Only repeat expansion reported. Added as an STR","entity_name":"DIP2B","entity_type":"gene"},{"created":"2020-12-10T14:06:13.081323+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5604","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dip2b has been removed from the panel.","entity_name":"DIP2B","entity_type":"gene"},{"created":"2020-12-10T14:06:02.541343+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5603","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DIP2B as No list","entity_name":"DIP2B","entity_type":"gene"},{"created":"2020-12-10T14:06:02.537304+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5603","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Only repeat expansion reported. Added as an STR","entity_name":"DIP2B","entity_type":"gene"},{"created":"2020-12-10T14:06:02.495927+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5603","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dip2b has been removed from the panel.","entity_name":"DIP2B","entity_type":"gene"},{"created":"2020-12-10T14:04:49.424065+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3272","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DIP2B as No list","entity_name":"DIP2B","entity_type":"gene"},{"created":"2020-12-10T14:04:49.419408+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3272","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Only repeat expansion reported. Added as an STR","entity_name":"DIP2B","entity_type":"gene"},{"created":"2020-12-10T14:04:49.383613+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3272","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dip2b has been removed from the panel.","entity_name":"DIP2B","entity_type":"gene"},{"created":"2020-12-10T14:02:50.053724+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3271","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: FRA12A as ready","entity_name":"FRA12A","entity_type":"str"},{"created":"2020-12-10T14:02:50.046239+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3271","user_name":"Bryony Thompson","item_type":"entity","text":"Str: fra12a has been classified as Amber List (Moderate Evidence).","entity_name":"FRA12A","entity_type":"str"},{"created":"2020-12-10T14:02:10.236325+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3271","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: FRA12A as Amber List (moderate evidence)","entity_name":"FRA12A","entity_type":"str"},{"created":"2020-12-10T14:02:10.225829+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3271","user_name":"Bryony Thompson","item_type":"entity","text":"Str: fra12a has been classified as Amber List (Moderate Evidence).","entity_name":"FRA12A","entity_type":"str"},{"created":"2020-12-10T14:01:29.645764+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3270","user_name":"Bryony Thompson","item_type":"entity","text":"STR: FRA12A was added\nSTR: FRA12A was added to Intellectual disability syndromic and non-syndromic. Sources: Other\n5'UTR tags were added to STR: FRA12A.\nMode of inheritance for STR: FRA12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: FRA12A were set to 17236128\nPhenotypes for STR: FRA12A were set to Mental retardation, FRA12A type MIM#136630\nReview for STR: FRA12A was set to AMBER\nAdded comment: NM_173602.2:c.-137CGG[X]\r\nAll individuals expressing FRA12A had CGG-repeat expansion. The length of the expanded allele in 3 unaffected FRA12A carriers was 650–850 bp. In the two affected patients from 2 families with FRA12A, the length of the expanded allele was ∼1,050-1,150 bp.\r\n70 controls used to determine the \"normal\" repeat range. \nSources: Other","entity_name":"FRA12A","entity_type":"str"},{"created":"2020-12-10T13:10:32.696014+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTPRQ were set to 20346435; 20472657; 25919374; 14534255; 22357859; 29849575; 29309402; 31655630","entity_name":"PTPRQ","entity_type":"gene"},{"created":"2020-12-10T13:10:00.660634+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: PTPRQ: Further heterozygous variants reported in PMID 33229591.","entity_name":"PTPRQ","entity_type":"gene"},{"created":"2020-12-10T13:09:34.905002+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PTPRQ: Changed publications: 20346435, 20472657, 25919374, 14534255, 22357859, 29849575, 29309402, 31655630, 33229591","entity_name":"PTPRQ","entity_type":"gene"},{"created":"2020-12-10T13:09:15.145202+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5602","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTPRQ were set to 20346435; 20472657; 25919374; 14534255; 22357859; 29849575; 29309402; 31655630","entity_name":"PTPRQ","entity_type":"gene"},{"created":"2020-12-10T13:08:53.495611+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5601","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Additional heterozygous variants reported in PMID: 33229591; to: Additional heterozygous variants reported in PMID: 33229591, Green for both MOIs.","entity_name":"PTPRQ","entity_type":"gene"},{"created":"2020-12-10T13:08:37.863012+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5601","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PTPRQ: Added comment: Additional heterozygous variants reported in PMID: 33229591; Changed publications: 20346435, 20472657, 25919374, 14534255, 22357859, 29849575, 29309402, 31655630, 33229591","entity_name":"PTPRQ","entity_type":"gene"},{"created":"2020-12-10T11:47:54.923400+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.94","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: CANVAS_ACAGG as ready","entity_name":"CANVAS_ACAGG","entity_type":"str"},{"created":"2020-12-10T11:47:54.912775+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.94","user_name":"Bryony Thompson","item_type":"entity","text":"Str: canvas_acagg has been classified as Amber List (Moderate Evidence).","entity_name":"CANVAS_ACAGG","entity_type":"str"},{"created":"2020-12-10T11:47:51.319459+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.94","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: CANVAS_ACAGG as Amber List (moderate evidence)","entity_name":"CANVAS_ACAGG","entity_type":"str"},{"created":"2020-12-10T11:47:51.314210+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.94","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Used the pathogenic cut-off of 400 repeats from original CANVAS repeat","entity_name":"CANVAS_ACAGG","entity_type":"str"},{"created":"2020-12-10T11:47:51.295084+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.94","user_name":"Bryony Thompson","item_type":"entity","text":"Str: canvas_acagg has been classified as Amber List (Moderate Evidence).","entity_name":"CANVAS_ACAGG","entity_type":"str"},{"created":"2020-12-10T11:47:35.657412+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.93","user_name":"Bryony Thompson","item_type":"entity","text":"STR: CANVAS_ACAGG was added\nSTR: CANVAS_ACAGG was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for STR: CANVAS_ACAGG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: CANVAS_ACAGG were set to 33103729\nPhenotypes for STR: CANVAS_ACAGG were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; fasciculations; elevated serum creatine kinase levels; denervation\nReview for STR: CANVAS_ACAGG was set to AMBER\nAdded comment: A novel RFC1 repeat expansion motif, (ACAGG)exp, identified homozygous in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats. \nSources: Literature","entity_name":"CANVAS_ACAGG","entity_type":"str"},{"created":"2020-12-10T11:46:31.567766+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5601","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: A novel RFC1 repeat expansion motif, (ACAGG)exp, identified in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats. \nSources: Literature; to: A novel RFC1 repeat expansion motif, (ACAGG)exp, identified homozygous in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats. \r\nSources: Literature","entity_name":"CANVAS_ACAGG","entity_type":"str"},{"created":"2020-12-10T11:44:10.742770+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5601","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: CANVAS_ACAGG as ready","entity_name":"CANVAS_ACAGG","entity_type":"str"},{"created":"2020-12-10T11:44:10.729636+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5601","user_name":"Bryony Thompson","item_type":"entity","text":"Str: canvas_acagg has been classified as Amber List (Moderate Evidence).","entity_name":"CANVAS_ACAGG","entity_type":"str"},{"created":"2020-12-10T11:43:56.256870+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5601","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: CANVAS_ACAGG as Amber List (moderate evidence)","entity_name":"CANVAS_ACAGG","entity_type":"str"},{"created":"2020-12-10T11:43:56.252070+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5601","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Used the pathogenic cut-off of 400 repeats from original CANVAS repeat","entity_name":"CANVAS_ACAGG","entity_type":"str"},{"created":"2020-12-10T11:43:56.228589+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5601","user_name":"Bryony Thompson","item_type":"entity","text":"Str: canvas_acagg has been classified as Amber List (Moderate Evidence).","entity_name":"CANVAS_ACAGG","entity_type":"str"},{"created":"2020-12-10T11:43:21.982307+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5600","user_name":"Bryony Thompson","item_type":"entity","text":"STR: CANVAS_ACAGG was added\nSTR: CANVAS_ACAGG was added to Mendeliome. Sources: Literature\nMode of inheritance for STR: CANVAS_ACAGG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: CANVAS_ACAGG were set to 33103729\nPhenotypes for STR: CANVAS_ACAGG were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; fasciculations; elevated serum creatine kinase levels; denervation\nReview for STR: CANVAS_ACAGG was set to AMBER\nAdded comment: A novel RFC1 repeat expansion motif, (ACAGG)exp, identified in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats. \nSources: Literature","entity_name":"CANVAS_ACAGG","entity_type":"str"},{"created":"2020-12-10T11:41:11.697396+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5599","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: CANVAS as ready","entity_name":"CANVAS","entity_type":"str"},{"created":"2020-12-10T11:41:11.683156+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5599","user_name":"Bryony Thompson","item_type":"entity","text":"Str: canvas has been classified as Green List (High Evidence).","entity_name":"CANVAS","entity_type":"str"},{"created":"2020-12-10T11:40:20.729768+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5599","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: CANVAS as Green List (high evidence)","entity_name":"CANVAS","entity_type":"str"},{"created":"2020-12-10T11:40:20.717816+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5599","user_name":"Bryony Thompson","item_type":"entity","text":"Str: canvas has been classified as Green List (High Evidence).","entity_name":"CANVAS","entity_type":"str"},{"created":"2020-12-10T11:39:53.383065+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5598","user_name":"Bryony Thompson","item_type":"entity","text":"STR: CANVAS was added\nSTR: CANVAS was added to Mendeliome. Sources: Expert list\nMode of inheritance for STR: CANVAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: CANVAS were set to 30926972; 32851396\nPhenotypes for STR: CANVAS were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575\nReview for STR: CANVAS was set to GREEN\nSTR: CANVAS was marked as clinically relevant\nAdded comment: Simple tandem repeat (AAAAG)11 replaced with (AAGGG)n in intron 2 of RFC1. Loss of function is not the mechanism of disease. Maori population-specific CANVAS configuration (AAAGG)10-25(AAGGG)exp. (AAAGG)n repeat alone is not pathogenic. \nSources: Expert list","entity_name":"CANVAS","entity_type":"str"},{"created":"2020-12-10T11:36:39.682491+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5597","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RFC1 as No list","entity_name":"RFC1","entity_type":"gene"},{"created":"2020-12-10T11:36:39.671656+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5597","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rfc1 has been removed from the panel.","entity_name":"RFC1","entity_type":"gene"},{"created":"2020-12-10T11:11:42.854421+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3269","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: FRAXE as Green List (high evidence)","entity_name":"FRAXE","entity_type":"str"},{"created":"2020-12-10T11:11:42.846213+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3269","user_name":"Bryony Thompson","item_type":"entity","text":"Str: fraxe has been classified as Green List (High Evidence).","entity_name":"FRAXE","entity_type":"str"},{"created":"2020-12-10T11:10:26.805814+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3268","user_name":"Bryony Thompson","item_type":"entity","text":"STR: FRAXE was added\nSTR: FRAXE was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for STR: FRAXE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: FRAXE were set to 8334699; 8673085; 11388762\nPhenotypes for STR: FRAXE were set to Fragile X syndrome, FRAXE type (OMIM 309548)\nReview for STR: FRAXE was set to GREEN\nSTR: FRAXE was marked as clinically relevant\nSTR: FRAXE was marked as current diagnostic\nAdded comment: NM_001169122.1(AFF2):c.-460_-458GCC(6_25)\r\nLoss of function through methylation silencing is the mechanism of disease\r\nNormal - 5-44 repeats\r\nInconclusive - 45-54 repeats\r\nPremutation - 55-200 repeats\r\nAbnormal - >200 or >230 repeats \nSources: Expert list","entity_name":"FRAXE","entity_type":"str"},{"created":"2020-12-10T10:20:52.259951+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5596","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GDF11 were changed from Cleft lip and palate to Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122","entity_name":"GDF11","entity_type":"gene"},{"created":"2020-12-10T10:20:28.872778+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5595","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GDF11: Changed phenotypes: Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122","entity_name":"GDF11","entity_type":"gene"},{"created":"2020-12-09T21:32:31.151475+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5595","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNASEH2C as ready","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2020-12-09T21:32:31.136474+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5595","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnaseh2c has been classified as Green List (High Evidence).","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2020-12-09T21:32:24.503200+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5595","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNASEH2C were changed from  to Aicardi-Goutieres syndrome 3 (MIM# 610329), AR","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2020-12-09T21:32:06.059774+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5594","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNASEH2C were set to ","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2020-12-09T21:31:31.608355+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5593","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RNASEH2C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2020-12-09T19:30:13.584565+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5592","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CFAP52 as ready","entity_name":"CFAP52","entity_type":"gene"},{"created":"2020-12-09T19:30:13.572256+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5592","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfap52 has been classified as Green List (High Evidence).","entity_name":"CFAP52","entity_type":"gene"},{"created":"2020-12-09T19:30:04.844033+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5592","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CFAP52 as Green List (high evidence)","entity_name":"CFAP52","entity_type":"gene"},{"created":"2020-12-09T19:30:04.835746+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5592","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfap52 has been classified as Green List (High Evidence).","entity_name":"CFAP52","entity_type":"gene"},{"created":"2020-12-09T19:29:05.212522+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5591","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CFAP45 as ready","entity_name":"CFAP45","entity_type":"gene"},{"created":"2020-12-09T19:29:05.196070+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5591","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfap45 has been classified as Green List (High Evidence).","entity_name":"CFAP45","entity_type":"gene"},{"created":"2020-12-09T19:28:01.177698+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5591","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CFAP45 as Green List (high evidence)","entity_name":"CFAP45","entity_type":"gene"},{"created":"2020-12-09T19:28:01.166011+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5591","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfap45 has been classified as Green List (High Evidence).","entity_name":"CFAP45","entity_type":"gene"},{"created":"2020-12-09T18:16:04.725785+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5590","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24183309, 23322642; Phenotypes: Aicardi-Goutieres syndrome 3 (MIM# 610329), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2020-12-09T16:52:13.438632+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.955","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP85L as ready","entity_name":"CEP85L","entity_type":"gene"},{"created":"2020-12-09T16:52:13.428446+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.955","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep85l has been classified as Green List (High Evidence).","entity_name":"CEP85L","entity_type":"gene"},{"created":"2020-12-09T16:52:11.480659+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.955","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CEP85L as Green List (high evidence)","entity_name":"CEP85L","entity_type":"gene"},{"created":"2020-12-09T16:52:11.474446+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.955","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep85l has been classified as Green List (High Evidence).","entity_name":"CEP85L","entity_type":"gene"},{"created":"2020-12-09T16:49:42.901599+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.954","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CEP85L as Green List (high evidence)","entity_name":"CEP85L","entity_type":"gene"},{"created":"2020-12-09T16:49:42.894147+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.954","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep85l has been classified as Green List (High Evidence).","entity_name":"CEP85L","entity_type":"gene"},{"created":"2020-12-09T16:48:45.060028+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.953","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP85L was added\ngene: CEP85L was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CEP85L were set to 32097630\nPhenotypes for gene: CEP85L were set to Lissencephaly, posterior predominant\nReview for gene: CEP85L was set to GREEN\nAdded comment: PMID: 32097630 (2020) - 13 individuals from 9 unrelated families with lissencephaly and heterozygous variants in the CEP85L gene. Seizures are part of the phenotype, present in all cases (except 1 unknown) which were intractable in most. Age of seizure onset was variable, ranging from 5 months to 14 years. Mouse model supports a role of CEP85L in neuronal migration. \nSources: Expert Review","entity_name":"CEP85L","entity_type":"gene"},{"created":"2020-12-09T16:37:02.009282+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.510","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MORC2 as ready","entity_name":"MORC2","entity_type":"gene"},{"created":"2020-12-09T16:37:01.981110+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.510","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: morc2 has been classified as Green List (High Evidence).","entity_name":"MORC2","entity_type":"gene"},{"created":"2020-12-09T16:36:57.519516+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.510","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MORC2 as Green List (high evidence)","entity_name":"MORC2","entity_type":"gene"},{"created":"2020-12-09T16:36:57.508833+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.510","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: morc2 has been classified as Green List (High Evidence).","entity_name":"MORC2","entity_type":"gene"},{"created":"2020-12-09T16:36:26.905718+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.509","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MORC2 was added\ngene: MORC2 was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MORC2 were set to 32693025\nPhenotypes for gene: MORC2 were set to Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688\nReview for gene: MORC2 was set to GREEN\nAdded comment: MORC2 variants have commonly been associated with CMT, presenting axonal neuropathy with progressive weakness, muscle cramps and sensory impairment. However, Sacoto et al (2020) (PMID: 32693025) present a cohort of 20 individuals (19 kindreds) with a neurodevelopmental disorder characterised by DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Hearing loss was observed in 11/19 subjects, primarily SNHL. \nSources: Expert list","entity_name":"MORC2","entity_type":"gene"},{"created":"2020-12-09T16:33:23.234682+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MORC2 as ready","entity_name":"MORC2","entity_type":"gene"},{"created":"2020-12-09T16:33:23.226575+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: morc2 has been classified as Green List (High Evidence).","entity_name":"MORC2","entity_type":"gene"},{"created":"2020-12-09T16:33:18.220802+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MORC2 as Green List (high evidence)","entity_name":"MORC2","entity_type":"gene"},{"created":"2020-12-09T16:33:18.212945+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: morc2 has been classified as Green List (High Evidence).","entity_name":"MORC2","entity_type":"gene"},{"created":"2020-12-09T16:32:49.906944+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MORC2 was added\ngene: MORC2 was added to Deafness_IsolatedAndComplex. Sources: Expert list\nMode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MORC2 were set to 32693025\nPhenotypes for gene: MORC2 were set to Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688\nReview for gene: MORC2 was set to GREEN\nAdded comment: MORC2 variants have commonly been associated with CMT, presenting axonal neuropathy with progressive weakness, muscle cramps and sensory impairment. However, Sacoto et al (2020) (PMID: 32693025) present a cohort of 20 individuals (19 kindreds) with a neurodevelopmental disorder characterised by DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Hearing loss was observed in 11/19 subjects, primarily SNHL. \nSources: Expert list","entity_name":"MORC2","entity_type":"gene"}]}