{"count":220263,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1376","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1374","results":[{"created":"2021-03-22T11:50:12.264171+11:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.2","user_name":"Alison Yeung","item_type":"entity","text":"Gene: chrdl1 has been classified as Green List (High Evidence).","entity_name":"CHRDL1","entity_type":"gene"},{"created":"2021-03-22T11:49:36.511713+11:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.1","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: CHRDL1 as ready","entity_name":"CHRDL1","entity_type":"gene"},{"created":"2021-03-22T11:49:36.507034+11:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.1","user_name":"Alison Yeung","item_type":"entity","text":"Added comment: Comment when marking as ready: Multiple large families reported with X-linked inheritance.","entity_name":"CHRDL1","entity_type":"gene"},{"created":"2021-03-22T11:49:36.481804+11:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.1","user_name":"Alison Yeung","item_type":"entity","text":"Gene: chrdl1 has been classified as Red List (Low Evidence).","entity_name":"CHRDL1","entity_type":"gene"},{"created":"2021-03-22T11:49:01.664480+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6842","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CNBP as No list","entity_name":"CNBP","entity_type":"gene"},{"created":"2021-03-22T11:49:01.656813+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6842","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Condition is caused by a CCTG expansion in intron 1. No reported SNVs or indels reported in association with disease. Present under STRs on this panel","entity_name":"CNBP","entity_type":"gene"},{"created":"2021-03-22T11:49:01.594802+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6842","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cnbp has been removed from the panel.","entity_name":"CNBP","entity_type":"gene"},{"created":"2021-03-22T11:48:43.362715+11:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.1","user_name":"Alison Yeung","item_type":"entity","text":"gene: CHRDL1 was added\ngene: CHRDL1 was added to Corneal Dystrophy. Sources: Literature\nMode of inheritance for gene: CHRDL1 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: CHRDL1 were set to 25093588\nPhenotypes for gene: CHRDL1 were set to Megalocornea OMIM# 309300\nReview for gene: CHRDL1 was set to GREEN\nAdded comment: Sources: Literature","entity_name":"CHRDL1","entity_type":"gene"},{"created":"2021-03-22T11:47:19.459228+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3544","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: DM1 as ready","entity_name":"DM1","entity_type":"str"},{"created":"2021-03-22T11:47:19.446095+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3544","user_name":"Bryony Thompson","item_type":"entity","text":"Str: dm1 has been classified as Green List (High Evidence).","entity_name":"DM1","entity_type":"str"},{"created":"2021-03-22T11:47:01.475818+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3544","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: DM1 as Green List (high evidence)","entity_name":"DM1","entity_type":"str"},{"created":"2021-03-22T11:47:01.466038+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3544","user_name":"Bryony Thompson","item_type":"entity","text":"Str: dm1 has been classified as Green List (High Evidence).","entity_name":"DM1","entity_type":"str"},{"created":"2021-03-22T11:46:29.640038+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6841","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: DM1 as ready","entity_name":"DM1","entity_type":"str"},{"created":"2021-03-22T11:46:29.627948+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6841","user_name":"Bryony Thompson","item_type":"entity","text":"Str: dm1 has been classified as Green List (High Evidence).","entity_name":"DM1","entity_type":"str"},{"created":"2021-03-22T11:46:22.045322+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6841","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: DM1 as Green List (high evidence)","entity_name":"DM1","entity_type":"str"},{"created":"2021-03-22T11:46:22.034213+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6841","user_name":"Bryony Thompson","item_type":"entity","text":"Str: dm1 has been classified as Green List (High Evidence).","entity_name":"DM1","entity_type":"str"},{"created":"2021-03-22T11:46:13.739541+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3543","user_name":"Bryony Thompson","item_type":"entity","text":"STR: DM1 was added\nSTR: DM1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for STR: DM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: DM1 were set to 20301344; 29325606\nPhenotypes for STR: DM1 were set to Myotonic dystrophy 1 MIM#160900\nReview for STR: DM1 was set to GREEN\nSTR: DM1 was marked as clinically relevant\nAdded comment: HGVS nomenclature: NM_001081560.2:c.*224_*226CTG[X]\r\nRNA toxic gain of function is mechanism of disease\r\nPremutation: 35-49 repeats, no clinical signs\r\nMild: 50-~150 repeats, age of onset 20-70 yrs, clinical signs - cataracts, mild myotonia\r\nClassic: ~100-~1,000 repeats, age of onset 10-30 yrs, clinical signs - weakness, myotonia, cataracts, balding, cardiac arrhythmia\r\nCongenital: >1,000 repeats, age of onset birth-10 yrs , clinical signs - infantile hypotonia, respiratory deficits, intellectual disability, classic signs in adults \nSources: Expert list","entity_name":"DM1","entity_type":"str"},{"created":"2021-03-22T11:46:04.259324+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6840","user_name":"Bryony Thompson","item_type":"entity","text":"STR: DM1 was added\nSTR: DM1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for STR: DM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: DM1 were set to 20301344; 29325606\nPhenotypes for STR: DM1 were set to Myotonic dystrophy 1 MIM#160900\nReview for STR: DM1 was set to GREEN\nSTR: DM1 was marked as clinically relevant\nAdded comment: HGVS nomenclature: NM_001081560.2:c.*224_*226CTG[X]\r\nRNA toxic gain of function is mechanism of disease\r\nPremutation: 35-49 repeats, no clinical signs\r\nMild: 50-~150 repeats, age of onset 20-70 yrs, clinical signs - cataracts, mild myotonia\r\nClassic: ~100-~1,000 repeats, age of onset 10-30 yrs, clinical signs - weakness, myotonia, cataracts, balding, cardiac arrhythmia\r\nCongenital: >1,000 repeats, age of onset birth-10 yrs , clinical signs - infantile hypotonia, respiratory deficits, intellectual disability, classic signs in adults \nSources: Expert list","entity_name":"DM1","entity_type":"str"},{"created":"2021-03-22T11:42:10.018410+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3542","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DMPK as No list","entity_name":"DMPK","entity_type":"gene"},{"created":"2021-03-22T11:42:10.013733+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3542","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: STR is the only cause of condition for this gene and is present in STRs for this panel.","entity_name":"DMPK","entity_type":"gene"},{"created":"2021-03-22T11:42:09.976816+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3542","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dmpk has been removed from the panel.","entity_name":"DMPK","entity_type":"gene"},{"created":"2021-03-22T11:41:37.212844+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6839","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DMPK as No list","entity_name":"DMPK","entity_type":"gene"},{"created":"2021-03-22T11:41:37.208741+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6839","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: STR is the only cause of condition for this gene and is present in STRs for this panel.","entity_name":"DMPK","entity_type":"gene"},{"created":"2021-03-22T11:41:37.177704+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6839","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dmpk has been removed from the panel.","entity_name":"DMPK","entity_type":"gene"},{"created":"2021-03-22T11:37:58.264410+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6838","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: SCA17 as ready","entity_name":"SCA17","entity_type":"str"},{"created":"2021-03-22T11:37:58.245873+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6838","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca17 has been classified as Green List (High Evidence).","entity_name":"SCA17","entity_type":"str"},{"created":"2021-03-22T11:37:50.809097+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6838","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: SCA17 as Green List (high evidence)","entity_name":"SCA17","entity_type":"str"},{"created":"2021-03-22T11:37:50.799120+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6838","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca17 has been classified as Green List (High Evidence).","entity_name":"SCA17","entity_type":"str"},{"created":"2021-03-22T11:37:35.103034+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6837","user_name":"Bryony Thompson","item_type":"entity","text":"STR: SCA17 was added\nSTR: SCA17 was added to Mendeliome. Sources: Expert list\nMode of inheritance for STR: SCA17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA17 were set to 20301611; 29325606\nPhenotypes for STR: SCA17 were set to Spinocerebellar ataxia 17 MIM#607136\nReview for STR: SCA17 was set to GREEN\nSTR: SCA17 was marked as clinically relevant\nAdded comment: NM_003194.4:c.172_174[X]\r\nMechanism of disease expected to be gain of function\r\nNormal: ≤ 40 CAG/CAA repeats\r\nReduced-penetrance: 41-48 CAG/CAA repeats, individual may or may not develop symptoms.\r\nFull-penetrance: ≥49 CAG/CAA repeats \nSources: Expert list","entity_name":"SCA17","entity_type":"str"},{"created":"2021-03-22T11:35:58.530894+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6836","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TBP as ready","entity_name":"TBP","entity_type":"gene"},{"created":"2021-03-22T11:35:58.520657+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6836","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tbp has been removed from the panel.","entity_name":"TBP","entity_type":"gene"},{"created":"2021-03-22T11:35:37.370377+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6836","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TBP as No list","entity_name":"TBP","entity_type":"gene"},{"created":"2021-03-22T11:35:37.364351+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6836","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: See STRs","entity_name":"TBP","entity_type":"gene"},{"created":"2021-03-22T11:35:37.332255+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6836","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tbp has been removed from the panel.","entity_name":"TBP","entity_type":"gene"},{"created":"2021-03-22T11:34:13.318004+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6835","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: SCA12 as ready","entity_name":"SCA12","entity_type":"str"},{"created":"2021-03-22T11:34:13.308919+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6835","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca12 has been classified as Green List (High Evidence).","entity_name":"SCA12","entity_type":"str"},{"created":"2021-03-22T11:34:05.476649+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6835","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: SCA12 as Green List (high evidence)","entity_name":"SCA12","entity_type":"str"},{"created":"2021-03-22T11:34:05.467362+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6835","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca12 has been classified as Green List (High Evidence).","entity_name":"SCA12","entity_type":"str"},{"created":"2021-03-22T11:33:46.481108+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6834","user_name":"Bryony Thompson","item_type":"entity","text":"STR: SCA12 was added\nSTR: SCA12 was added to Mendeliome. Sources: Expert list\nMode of inheritance for STR: SCA12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA12 were set to 29325606; 20301381\nPhenotypes for STR: SCA12 were set to Spinocerebellar ataxia 12 MIM#604326\nReview for STR: SCA12 was set to GREEN\nSTR: SCA12 was marked as clinically relevant\nAdded comment: NM_181675.3:c.27CAG[X]\r\nUncertain if CAG repeat encodes polyglutamine or instead effects expression of specific splice variants of the encoded phosphatase\r\nNormal: ≤32 repeats\r\nReduced penetrance: ~40-66 repeats\r\nFull penetrance: ≥66 repeats \nSources: Expert list","entity_name":"SCA12","entity_type":"str"},{"created":"2021-03-22T11:31:50.170145+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6833","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PPP2R2B as ready","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2021-03-22T11:31:50.155431+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6833","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ppp2r2b has been removed from the panel.","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2021-03-22T11:31:20.938905+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6833","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PPP2R2B as No list","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2021-03-22T11:31:20.927546+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6833","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ppp2r2b has been removed from the panel.","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2021-03-22T11:30:48.573349+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6832","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: SCA36 as ready","entity_name":"SCA36","entity_type":"str"},{"created":"2021-03-22T11:30:48.563878+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6832","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca36 has been classified as Green List (High Evidence).","entity_name":"SCA36","entity_type":"str"},{"created":"2021-03-22T11:30:42.215405+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6832","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: SCA36 as Green List (high evidence)","entity_name":"SCA36","entity_type":"str"},{"created":"2021-03-22T11:30:42.204954+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6832","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca36 has been classified as Green List (High Evidence).","entity_name":"SCA36","entity_type":"str"},{"created":"2021-03-22T11:30:20.971010+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6831","user_name":"Bryony Thompson","item_type":"entity","text":"STR: SCA36 was added\nSTR: SCA36 was added to Mendeliome. Sources: Expert list\nMode of inheritance for STR: SCA36 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA36 were set to 25101480\nPhenotypes for STR: SCA36 were set to Spinocerebellar ataxia 36 MIM#614153\nReview for STR: SCA36 was set to GREEN\nSTR: SCA36 was marked as clinically relevant\nAdded comment: NM_006392​.3:c.3+71GGCCTG[X]\r\nToxic RNA effect is suggested mechanism of disease\r\nNormal: 3-14 repeats\r\nUncertain significance: 15-650 repeats\r\nPathogenic: ≥650 repeats \nSources: Expert list","entity_name":"SCA36","entity_type":"str"},{"created":"2021-03-22T11:28:26.484054+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6830","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NOP56 as No list","entity_name":"NOP56","entity_type":"gene"},{"created":"2021-03-22T11:28:26.475484+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6830","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: A hexanucleotide (GGCCTG) repeat expansion in the first intron of the NOP56 gene is the only reported cause of disease. See STRS","entity_name":"NOP56","entity_type":"gene"},{"created":"2021-03-22T11:28:26.420443+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6830","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nop56 has been removed from the panel.","entity_name":"NOP56","entity_type":"gene"},{"created":"2021-03-22T11:26:19.603784+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6829","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: SCA37 as ready","entity_name":"SCA37","entity_type":"str"},{"created":"2021-03-22T11:26:19.593463+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6829","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca37 has been classified as Green List (High Evidence).","entity_name":"SCA37","entity_type":"str"},{"created":"2021-03-22T11:26:07.974468+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6829","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: SCA37 as Green List (high evidence)","entity_name":"SCA37","entity_type":"str"},{"created":"2021-03-22T11:26:07.963951+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6829","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca37 has been classified as Green List (High Evidence).","entity_name":"SCA37","entity_type":"str"},{"created":"2021-03-22T11:25:50.699395+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6828","user_name":"Bryony Thompson","item_type":"entity","text":"STR: SCA37 was added\nSTR: SCA37 was added to Mendeliome. Sources: Expert list\nMode of inheritance for STR: SCA37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA37 were set to 28686858; 31145571\nPhenotypes for STR: SCA37 were set to Spinocerebellar ataxia 37 MIM#615945\nReview for STR: SCA37 was set to GREEN\nSTR: SCA37 was marked as clinically relevant\nAdded comment: NC_000001.10:g.57832716_57832797ins[(ATTTT)60-79(ATTTC)31-75(ATTTT)58-90]\r\nLocated in a 5'UTR intron, flanked by (ATTTT)n on both sides\r\nNon-pathogenic allele: (ATTTT)7–400\r\nPathogenic allele: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90] \nSources: Expert list","entity_name":"SCA37","entity_type":"str"},{"created":"2021-03-22T11:22:03.878081+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6827","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DAB1 as ready","entity_name":"DAB1","entity_type":"gene"},{"created":"2021-03-22T11:22:03.867454+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6827","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dab1 has been removed from the panel.","entity_name":"DAB1","entity_type":"gene"},{"created":"2021-03-22T11:21:58.222262+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6827","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DAB1 as No list","entity_name":"DAB1","entity_type":"gene"},{"created":"2021-03-22T11:21:58.210573+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6827","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dab1 has been removed from the panel.","entity_name":"DAB1","entity_type":"gene"},{"created":"2021-03-22T11:21:30.683111+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6826","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: SCA31 as ready","entity_name":"SCA31","entity_type":"str"},{"created":"2021-03-22T11:21:30.672453+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6826","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca31 has been classified as Green List (High Evidence).","entity_name":"SCA31","entity_type":"str"},{"created":"2021-03-22T11:17:21.024865+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6826","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: SCA31 as Green List (high evidence)","entity_name":"SCA31","entity_type":"str"},{"created":"2021-03-22T11:17:21.014358+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6826","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca31 has been classified as Green List (High Evidence).","entity_name":"SCA31","entity_type":"str"},{"created":"2021-03-22T11:16:48.748913+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6825","user_name":"Bryony Thompson","item_type":"entity","text":"STR: SCA31 was added\nSTR: SCA31 was added to Mendeliome. Sources: Expert list\nMode of inheritance for STR: SCA31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA31 were set to 19878914; 31755042\nPhenotypes for STR: SCA31 were set to Spinocerebellar ataxia 31 MIM#117210\nReview for STR: SCA31 was set to GREEN\nSTR: SCA31 was marked as clinically relevant\nAdded comment: Complex repeat insertion (TGGAA)n, (TAGAA)n, (TAAAA)n, (TAAAATAGAA)n, TGGAA is present only in affected cases. Sequencing showed that the insertion consisted of a preceding TCAC sequence, and 3 pentanucleotide repeat components (TGGAA)n, (TAGAA)n, and (TAAAA)n in all patients tested.\r\n2.5-3.8 KB insertion is associated with disease and RNA toxicity expected to be mechanism of disease\r\nNormal and pathogenic cut-offs are based on animal model experiments (PMID: 31755042) \nSources: Expert list","entity_name":"SCA31","entity_type":"str"},{"created":"2021-03-22T11:14:41.355270+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6824","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BEAN1 as ready","entity_name":"BEAN1","entity_type":"gene"},{"created":"2021-03-22T11:14:41.345321+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6824","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bean1 has been removed from the panel.","entity_name":"BEAN1","entity_type":"gene"},{"created":"2021-03-22T11:14:33.796979+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6824","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BEAN1 as No list","entity_name":"BEAN1","entity_type":"gene"},{"created":"2021-03-22T11:14:33.769456+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6824","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bean1 has been removed from the panel.","entity_name":"BEAN1","entity_type":"gene"},{"created":"2021-03-22T10:46:38.719314+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6823","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: SCA7 as ready","entity_name":"SCA7","entity_type":"str"},{"created":"2021-03-22T10:46:38.703654+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6823","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca7 has been classified as Green List (High Evidence).","entity_name":"SCA7","entity_type":"str"},{"created":"2021-03-22T10:45:15.728130+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6823","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: SCA7 as Green List (high evidence)","entity_name":"SCA7","entity_type":"str"},{"created":"2021-03-22T10:45:15.719215+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6823","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca7 has been classified as Green List (High Evidence).","entity_name":"SCA7","entity_type":"str"},{"created":"2021-03-22T10:44:56.470178+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6822","user_name":"Bryony Thompson","item_type":"entity","text":"STR: SCA7 was added\nSTR: SCA7 was added to Mendeliome. Sources: Expert list\nMode of inheritance for STR: SCA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA7 were set to 29325606; 20301433\nPhenotypes for STR: SCA7 were set to Spinocerebellar ataxia 7 MIM#164500\nReview for STR: SCA7 was set to GREEN\nSTR: SCA7 was marked as clinically relevant\nAdded comment: NM_000333​.3:c.89_91AGC[X]\r\nGain of function mechanism of disease\r\nNormal: ≤27 repeats\r\nMutable normal: 28-33 repeats, meiotically unstable, but not associated with an abnormal phenotype.\r\nPathogenic reduced penetrance: 34-36 repeats, when manifestations occur, they are more likely to be later onset and milder than average\r\nPathogenic full penetrance: 37-460 repeats \nSources: Expert list","entity_name":"SCA7","entity_type":"str"},{"created":"2021-03-22T10:41:18.937703+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6821","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ATXN7 as ready","entity_name":"ATXN7","entity_type":"gene"},{"created":"2021-03-22T10:41:18.927001+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6821","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atxn7 has been removed from the panel.","entity_name":"ATXN7","entity_type":"gene"},{"created":"2021-03-22T10:40:52.347747+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6821","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATXN7 as No list","entity_name":"ATXN7","entity_type":"gene"},{"created":"2021-03-22T10:40:52.338316+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6821","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atxn7 has been removed from the panel.","entity_name":"ATXN7","entity_type":"gene"},{"created":"2021-03-22T10:39:45.560858+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6820","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: SCA3 as ready","entity_name":"SCA3","entity_type":"str"},{"created":"2021-03-22T10:39:45.551562+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6820","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca3 has been classified as Green List (High Evidence).","entity_name":"SCA3","entity_type":"str"},{"created":"2021-03-22T10:39:25.122278+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6820","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: SCA3 as Green List (high evidence)","entity_name":"SCA3","entity_type":"str"},{"created":"2021-03-22T10:39:25.112502+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6820","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca3 has been classified as Green List (High Evidence).","entity_name":"SCA3","entity_type":"str"},{"created":"2021-03-22T10:39:06.347512+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6819","user_name":"Bryony Thompson","item_type":"entity","text":"STR: SCA3 was added\nSTR: SCA3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for STR: SCA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA3 were set to 20301375; 29325606\nPhenotypes for STR: SCA3 were set to Machado-Joseph disease MIM#109150; Spinocerebellar ataxia type 3\nReview for STR: SCA3 was set to GREEN\nSTR: SCA3 was marked as clinically relevant\nAdded comment: NM_004993​.5:c.886_888CAG[X]\r\nToxic aggregation and mislocalization in neurons is mechanism of disease\r\nNormal: ≤44 repeats, mostly <31 repeats\r\nIntermediate: 45-59 repeats, some intermediate alleles are not associated with classic clinical features of SCA3\r\nPathogenic (full penetrance): ≥60 repeats \nSources: Expert list","entity_name":"SCA3","entity_type":"str"},{"created":"2021-03-22T10:30:20.221440+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6818","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATXN3 as No list","entity_name":"ATXN3","entity_type":"gene"},{"created":"2021-03-22T10:30:20.210512+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6818","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atxn3 has been removed from the panel.","entity_name":"ATXN3","entity_type":"gene"},{"created":"2021-03-22T10:09:37.604484+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6817","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: SCA2 as ready","entity_name":"SCA2","entity_type":"str"},{"created":"2021-03-22T10:09:37.592848+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6817","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca2 has been classified as Green List (High Evidence).","entity_name":"SCA2","entity_type":"str"},{"created":"2021-03-22T10:05:06.746115+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6817","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: SCA2 as Green List (high evidence)","entity_name":"SCA2","entity_type":"str"},{"created":"2021-03-22T10:05:06.733646+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6817","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca2 has been classified as Green List (High Evidence).","entity_name":"SCA2","entity_type":"str"},{"created":"2021-03-22T10:04:47.963875+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6816","user_name":"Bryony Thompson","item_type":"entity","text":"STR: SCA2 was added\nSTR: SCA2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for STR: SCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA2 were set to 29325606; 20301452\nPhenotypes for STR: SCA2 were set to Spinocerebellar ataxia 2 MIM#183090\nReview for STR: SCA2 was set to GREEN\nSTR: SCA2 was marked as clinically relevant\nAdded comment: NM_002973​.3:c.496_498CAG[X]\r\nToxic protein aggregation is mechanism of disease\r\nBenign: ≤31 repeats (homozygous 31/31 repeats reported for recessive SCA2)\r\nUncertain: 32 repeats\r\nALS risk allele: 30-32 repeats\r\nReduced penetrance: 33-34 repeats, may not develop symptoms or only very late in life\r\nFull penetrance: ≥35 repeats\r\nInterruption of a CAG expanded allele by a CAA repeat does not mitigate the pathogenicity of the repeat size, but may enhance the meiotic stability of the repeat \nSources: Expert list","entity_name":"SCA2","entity_type":"str"},{"created":"2021-03-22T10:02:26.246526+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6815","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATXN2 as No list","entity_name":"ATXN2","entity_type":"gene"},{"created":"2021-03-22T10:02:26.233724+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6815","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atxn2 has been removed from the panel.","entity_name":"ATXN2","entity_type":"gene"},{"created":"2021-03-22T10:01:42.707952+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6814","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: SCA10 as ready","entity_name":"SCA10","entity_type":"str"},{"created":"2021-03-22T10:01:42.695935+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6814","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca10 has been classified as Green List (High Evidence).","entity_name":"SCA10","entity_type":"str"},{"created":"2021-03-22T09:59:48.534624+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6814","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: SCA10 as Green List (high evidence)","entity_name":"SCA10","entity_type":"str"},{"created":"2021-03-22T09:59:48.524298+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6814","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca10 has been classified as Green List (High Evidence).","entity_name":"SCA10","entity_type":"str"},{"created":"2021-03-22T09:59:32.796382+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6813","user_name":"Bryony Thompson","item_type":"entity","text":"STR: SCA10 was added\nSTR: SCA10 was added to Mendeliome. Sources: Expert list\nMode of inheritance for STR: SCA10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA10 were set to 20301354\nPhenotypes for STR: SCA10 were set to Spinocerebellar ataxia 10 MIM#603516\nReview for STR: SCA10 was set to GREEN\nSTR: SCA10 was marked as clinically relevant\nAdded comment: NM_013236​.2:c.1430+54822ATTCT[X]\r\nToxic RNA gain-of-function mechanism of disease\r\nNormal alleles: 10-32 ATTCT repeats\r\nAlleles of questionable significance: 33-280 ATTCT repeats\r\nReduced-penetrance alleles: 33-850 repeats\r\nFull-penetrance alleles: 800-4,500 ATTCT repeats \nSources: Expert list","entity_name":"SCA10","entity_type":"str"},{"created":"2021-03-22T09:53:11.031331+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6812","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATXN10 as No list","entity_name":"ATXN10","entity_type":"gene"},{"created":"2021-03-22T09:53:10.987478+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6812","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atxn10 has been removed from the panel.","entity_name":"ATXN10","entity_type":"gene"},{"created":"2021-03-21T19:55:29.545541+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPHP3 as ready","entity_name":"NPHP3","entity_type":"gene"}]}