{"count":220959,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1224","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1222","results":[{"created":"2021-08-30T12:05:40.303307+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LHX3 were changed from GH, TSH, LH, FSH, PRL deficiencies to Pituitary hormone deficiency, combined, 3, MIM# 221750","entity_name":"LHX3","entity_type":"gene"},{"created":"2021-08-30T12:05:29.704079+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.346","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LHX3 were set to ","entity_name":"LHX3","entity_type":"gene"},{"created":"2021-08-30T12:05:19.543404+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.345","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LHX3 as Green List (high evidence)","entity_name":"LHX3","entity_type":"gene"},{"created":"2021-08-30T12:05:19.532259+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.345","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhx3 has been classified as Green List (High Evidence).","entity_name":"LHX3","entity_type":"gene"},{"created":"2021-08-30T12:05:09.613204+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835633, 16394081, 17327381, 18407919; Phenotypes: Pituitary hormone deficiency, combined, 3, MIM# 221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LHX3","entity_type":"gene"},{"created":"2021-08-30T11:54:47.743568+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KHDC3L as ready","entity_name":"KHDC3L","entity_type":"gene"},{"created":"2021-08-30T11:54:47.734454+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: khdc3l has been classified as Red List (Low Evidence).","entity_name":"KHDC3L","entity_type":"gene"},{"created":"2021-08-30T11:54:45.514064+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KHDC3L were changed from pregnancy loss; Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671; Failure to thrive; IUGR to Silver-Russell syndrome","entity_name":"KHDC3L","entity_type":"gene"},{"created":"2021-08-30T11:54:33.032726+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.343","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KHDC3L was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to Other","entity_name":"KHDC3L","entity_type":"gene"},{"created":"2021-08-30T11:54:18.822301+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.342","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KHDC3L: Rating: RED; Mode of pathogenicity: None; Publications: 29574422; Phenotypes: Silver-Russell syndrome; Mode of inheritance: Other","entity_name":"KHDC3L","entity_type":"gene"},{"created":"2021-08-30T11:49:03.091985+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.342","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:INTS8 from the panel","entity_name":null,"entity_type":null},{"created":"2021-08-30T11:45:31.274820+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INSR as ready","entity_name":"INSR","entity_type":"gene"},{"created":"2021-08-30T11:45:31.261461+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: insr has been classified as Green List (High Evidence).","entity_name":"INSR","entity_type":"gene"},{"created":"2021-08-30T11:45:29.189176+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INSR were changed from Leprechaunism to Leprechaunism, MIM# 246200; Rabson-Mendenhall syndrome, MIM# 262190","entity_name":"INSR","entity_type":"gene"},{"created":"2021-08-30T11:45:21.143611+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.340","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INSR were set to ","entity_name":"INSR","entity_type":"gene"},{"created":"2021-08-30T11:45:12.849370+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: INSR as Green List (high evidence)","entity_name":"INSR","entity_type":"gene"},{"created":"2021-08-30T11:45:12.838856+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: insr has been classified as Green List (High Evidence).","entity_name":"INSR","entity_type":"gene"},{"created":"2021-08-30T11:45:04.033031+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8105179, 7815442, 33995269, 33224016, 33048476, 2121734, 9449692; Phenotypes: Leprechaunism, MIM# 246200, Rabson-Mendenhall syndrome, MIM# 262190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"INSR","entity_type":"gene"},{"created":"2021-08-29T18:12:32.677381+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.131","user_name":"Bryony Thompson","item_type":"panel","text":"removed STR:NIID from the panel","entity_name":null,"entity_type":null},{"created":"2021-08-29T18:11:58.517518+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.142","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: NIID as ready","entity_name":"NIID","entity_type":"str"},{"created":"2021-08-29T18:11:58.507800+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.142","user_name":"Bryony Thompson","item_type":"entity","text":"Str: niid has been classified as Green List (High Evidence).","entity_name":"NIID","entity_type":"str"},{"created":"2021-08-29T18:11:50.719043+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.142","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: NIID as Green List (high evidence)","entity_name":"NIID","entity_type":"str"},{"created":"2021-08-29T18:11:50.708462+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.142","user_name":"Bryony Thompson","item_type":"entity","text":"Str: niid has been classified as Green List (High Evidence).","entity_name":"NIID","entity_type":"str"},{"created":"2021-08-29T18:11:14.516151+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.141","user_name":"Bryony Thompson","item_type":"entity","text":"STR: NIID was added\nSTR: NIID was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102\nPhenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866\nReview for STR: NIID was set to GREEN\nSTR: NIID was marked as clinically relevant\nAdded comment: NM_001364012.2:c.-164GGC[X]\r\nExpanded repeat in NOTCH2NLC sequence is (GGC)9(GGA)2(GGC)2.\r\nLarge number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease.\r\nNormal repeat range: 7-60\r\nPathogenic repeat range: >=61-500\r\nMechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals. \nSources: Literature","entity_name":"NIID","entity_type":"str"},{"created":"2021-08-29T18:06:26.410275+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.140","user_name":"Bryony Thompson","item_type":"panel","text":"removed STR:NIID from the panel","entity_name":null,"entity_type":null},{"created":"2021-08-29T18:02:13.474912+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.108","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: NIID as ready","entity_name":"NIID","entity_type":"str"},{"created":"2021-08-29T18:02:13.464174+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.108","user_name":"Bryony Thompson","item_type":"entity","text":"Str: niid has been classified as Green List (High Evidence).","entity_name":"NIID","entity_type":"str"},{"created":"2021-08-29T18:02:07.311744+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.108","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: NIID as Green List (high evidence)","entity_name":"NIID","entity_type":"str"},{"created":"2021-08-29T18:02:07.300735+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.108","user_name":"Bryony Thompson","item_type":"entity","text":"Str: niid has been classified as Green List (High Evidence).","entity_name":"NIID","entity_type":"str"},{"created":"2021-08-29T18:01:46.588548+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.107","user_name":"Bryony Thompson","item_type":"entity","text":"STR: NIID was added\nSTR: NIID was added to Repeat Disorders. Sources: Literature\nMode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102\nPhenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866\nReview for STR: NIID was set to GREEN\nSTR: NIID was marked as clinically relevant\nAdded comment: NM_001364012.2:c.-164GGC[X]\r\nExpanded repeat in NOTCH2NLC sequence is (GGC)9(GGA)2(GGC)2. \r\nLarge number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease.\r\nNormal repeat range: 7-60\r\nPathogenic repeat range: >=61-500\r\nMechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals. \nSources: Literature","entity_name":"NIID","entity_type":"str"},{"created":"2021-08-29T17:03:47.306407+10:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.8","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: GDPAG as ready","entity_name":"GDPAG","entity_type":"str"},{"created":"2021-08-29T17:03:47.297153+10:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.8","user_name":"Bryony Thompson","item_type":"entity","text":"Str: gdpag has been classified as Green List (High Evidence).","entity_name":"GDPAG","entity_type":"str"},{"created":"2021-08-29T17:03:40.076582+10:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.8","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: GDPAG as Green List (high evidence)","entity_name":"GDPAG","entity_type":"str"},{"created":"2021-08-29T17:03:40.067785+10:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.8","user_name":"Bryony Thompson","item_type":"entity","text":"Str: gdpag has been classified as Green List (High Evidence).","entity_name":"GDPAG","entity_type":"str"},{"created":"2021-08-29T17:03:23.813079+10:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.7","user_name":"Bryony Thompson","item_type":"entity","text":"STR: GDPAG was added\nSTR: GDPAG was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for STR: GDPAG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: GDPAG were set to 30970188\nPhenotypes for STR: GDPAG were set to Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412\nReview for STR: GDPAG was set to GREEN\nSTR: GDPAG was marked as clinically relevant\nAdded comment: NM_014905.5(GLS):c.-212_-210GCA[X]\r\n3 unrelated cases with glutaminase deficiency were compound heterozygous (2) or homozygous for expansion of the repeat, 680-900 repeats in blood samples and 400-110 repeats in fibroblasts. In an analysis of 8295 genomes the median size of the repeat was 14 repeats (8-16 repeats range). There was 1 heterozygous allele with 90 repeats. Functional assays suggest the predominant effect of the repeats is at the level of histone modifications. Epigenetic gene silencing is the mechanism of disease of the repeat. Other variant types are also reported with disease. \nSources: Literature","entity_name":"GDPAG","entity_type":"str"},{"created":"2021-08-29T17:01:36.384523+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.106","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: GDPAG as ready","entity_name":"GDPAG","entity_type":"str"},{"created":"2021-08-29T17:01:36.374478+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.106","user_name":"Bryony Thompson","item_type":"entity","text":"Str: gdpag has been classified as Green List (High Evidence).","entity_name":"GDPAG","entity_type":"str"},{"created":"2021-08-29T17:01:24.642163+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.106","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: GDPAG as Green List (high evidence)","entity_name":"GDPAG","entity_type":"str"},{"created":"2021-08-29T17:01:24.629339+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.106","user_name":"Bryony Thompson","item_type":"entity","text":"Str: gdpag has been classified as Green List (High Evidence).","entity_name":"GDPAG","entity_type":"str"},{"created":"2021-08-29T17:00:56.689145+10:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.6","user_name":"Bryony Thompson","item_type":"panel","text":"removed STR:GLS from the panel","entity_name":null,"entity_type":null},{"created":"2021-08-29T17:00:20.195056+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.105","user_name":"Bryony Thompson","item_type":"entity","text":"STR: GDPAG was added\nSTR: GDPAG was added to Repeat Disorders. Sources: Literature\nMode of inheritance for STR: GDPAG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: GDPAG were set to 30970188\nPhenotypes for STR: GDPAG were set to Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412\nReview for STR: GDPAG was set to GREEN\nSTR: GDPAG was marked as clinically relevant\nAdded comment: NM_014905.5(GLS):c.-212_-210GCA[X]\r\n3 unrelated cases with glutaminase deficiency were compound heterozygous (2) or homozygous for expansion of the repeat, 680-900 repeats in blood samples and 400-110 repeats in fibroblasts. In an analysis of 8295 genomes the median size of the repeat was 14 repeats (8-16 repeats range). There was 1 heterozygous allele with 90 repeats. Functional assays suggest the predominant effect of the repeats is at the level of histone modifications. Epigenetic gene silencing is the mechanism of disease of the repeat. Other variant types are also reported with disease. \nSources: Literature","entity_name":"GDPAG","entity_type":"str"},{"created":"2021-08-29T16:46:59.921868+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.104","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: FAME1_TTTGA as ready","entity_name":"FAME1_TTTGA","entity_type":"str"},{"created":"2021-08-29T16:46:59.912434+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.104","user_name":"Bryony Thompson","item_type":"entity","text":"Str: fame1_tttga has been classified as Red List (Low Evidence).","entity_name":"FAME1_TTTGA","entity_type":"str"},{"created":"2021-08-29T16:46:48.579297+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.104","user_name":"Bryony Thompson","item_type":"entity","text":"STR: FAME1_TTTGA was added\nSTR: FAME1_TTTGA was added to Repeat Disorders. Sources: Literature\nMode of inheritance for STR: FAME1_TTTGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: FAME1_TTTGA were set to 31483537\nPhenotypes for STR: FAME1_TTTGA were set to familial cortical myoclonic tremor with epilepsy\nReview for STR: FAME1_TTTGA was set to RED\nAdded comment: A single family with 2 cases and 1 asymptomatic carrier with the repeat allele (TTTTA)114-123 (TTTGA)108-116, instead of the TTTCA FAME1 repeat. \nSources: Literature","entity_name":"FAME1_TTTGA","entity_type":"str"},{"created":"2021-08-29T16:38:03.575308+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.103","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":"2021-08-29T16:38:03.570217+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.103","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":"2021-08-29T16:38:03.545814+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.103","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":"2021-08-29T16:37:53.065900+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.102","user_name":"Bryony Thompson","item_type":"entity","text":"STR: CANVAS_ACAGG was added\nSTR: CANVAS_ACAGG was added to Repeat Disorders. Sources: Literature\nMode of inheritance for STR: CANVAS_ACAGG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: CANVAS_ACAGG were set to 33237689; 32694621; 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 and one Japanese individual 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":"2021-08-29T16:30:46.757295+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.101","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: CANVAS as ready","entity_name":"CANVAS","entity_type":"str"},{"created":"2021-08-29T16:30:46.748913+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.101","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":"2021-08-29T16:30:43.617233+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.101","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: CANVAS as Green List (high evidence)","entity_name":"CANVAS","entity_type":"str"},{"created":"2021-08-29T16:30:43.606761+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.101","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":"2021-08-29T16:30:34.277193+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.100","user_name":"Bryony Thompson","item_type":"entity","text":"STR: CANVAS was added\nSTR: CANVAS was added to Repeat Disorders. 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; 33237689; 31230722\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: NM_001204747​.1:c.132+2923_2927AAAAG[X]\r\nSimple tandem repeat (AAAAG)n 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. Mechanism of disease is unknown.\r\nNormal: AAAAG 11 repeats (allele frequency = 0.75); AAAAG 12-200 (allele frequency = 0.13); AAAGG 40-1000 (allele frequency = 0.08)\r\nPathogenic: AAGGG repeat expansion, most frequently ranging from 400 to more than 2000 repeats (allele frequency = 0.01-0.04) \nSources: Expert list","entity_name":"CANVAS","entity_type":"str"},{"created":"2021-08-29T16:15:26.549409+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8976","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGFALS as ready","entity_name":"IGFALS","entity_type":"gene"},{"created":"2021-08-29T16:15:26.539077+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8976","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igfals has been classified as Green List (High Evidence).","entity_name":"IGFALS","entity_type":"gene"},{"created":"2021-08-29T16:15:20.086878+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8976","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IGFALS were changed from  to Acid-labile subunit, deficiency of, MIM# 615961","entity_name":"IGFALS","entity_type":"gene"},{"created":"2021-08-29T16:14:54.215801+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8975","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IGFALS were set to ","entity_name":"IGFALS","entity_type":"gene"},{"created":"2021-08-29T16:10:41.282168+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.99","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: DBQD2 as ready","entity_name":"DBQD2","entity_type":"str"},{"created":"2021-08-29T16:10:41.271878+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.99","user_name":"Bryony Thompson","item_type":"entity","text":"Str: dbqd2 has been classified as Green List (High Evidence).","entity_name":"DBQD2","entity_type":"str"},{"created":"2021-08-29T16:10:33.207329+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.99","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: DBQD2 as Green List (high evidence)","entity_name":"DBQD2","entity_type":"str"},{"created":"2021-08-29T16:10:33.196903+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.99","user_name":"Bryony Thompson","item_type":"entity","text":"Str: dbqd2 has been classified as Green List (High Evidence).","entity_name":"DBQD2","entity_type":"str"},{"created":"2021-08-29T16:10:19.542107+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.98","user_name":"Bryony Thompson","item_type":"entity","text":"STR: DBQD2 was added\nSTR: DBQD2 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: DBQD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: DBQD2 were set to 30554721\nPhenotypes for STR: DBQD2 were set to Desbuquois dysplasia 2 MIM#615777\nReview for STR: DBQD2 was set to GREEN\nSTR: DBQD2 was marked as clinically relevant\nAdded comment: 10 patients from 8 families with homozygosity or compound heterozygosity for a (GGC)n repeat expansion in the XYLT1 promoter region, resulting in hypermethylation of XYLT1 exon 1. The GGC repeat region contains (GGC)n-AGC-(GGC)n-(GGA)n. Other loss of function variants in this gene also cause disease.\r\nNormal: 9-20 GGC repeats\r\nPathogenic: 120-800 repeats \nSources: Expert list","entity_name":"DBQD2","entity_type":"str"},{"created":"2021-08-29T15:48:03.029416+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8974","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IGFALS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IGFALS","entity_type":"gene"},{"created":"2021-08-29T15:47:43.474394+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8973","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IGFALS: Rating: GREEN; Mode of pathogenicity: None; Publications: 14762184, 21396577, 34136918; Phenotypes: Acid-labile subunit, deficiency of, MIM# 615961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IGFALS","entity_type":"gene"},{"created":"2021-08-29T15:46:52.969019+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGFALS as ready","entity_name":"IGFALS","entity_type":"gene"},{"created":"2021-08-29T15:46:52.958585+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igfals has been classified as Green List (High Evidence).","entity_name":"IGFALS","entity_type":"gene"},{"created":"2021-08-29T15:46:35.248324+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IGFALS were changed from very low IGF-I levels; Short stature; delayed puberty to Acid-labile subunit, deficiency of, MIM# 615961","entity_name":"IGFALS","entity_type":"gene"},{"created":"2021-08-29T15:46:25.313372+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.337","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IGFALS were set to 14762184","entity_name":"IGFALS","entity_type":"gene"},{"created":"2021-08-29T15:46:03.064644+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IGFALS as Green List (high evidence)","entity_name":"IGFALS","entity_type":"gene"},{"created":"2021-08-29T15:46:03.054480+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igfals has been classified as Green List (High Evidence).","entity_name":"IGFALS","entity_type":"gene"},{"created":"2021-08-29T15:45:53.960189+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IGFALS: Changed rating: GREEN","entity_name":"IGFALS","entity_type":"gene"},{"created":"2021-08-29T15:45:47.697623+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IGFALS: Rating: ; Mode of pathogenicity: None; Publications: 14762184, 21396577, 34136918; Phenotypes: Acid-labile subunit, deficiency of, MIM# 615961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IGFALS","entity_type":"gene"},{"created":"2021-08-29T15:29:14.199672+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT172 as ready","entity_name":"IFT172","entity_type":"gene"},{"created":"2021-08-29T15:29:14.187994+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift172 has been classified as Red List (Low Evidence).","entity_name":"IFT172","entity_type":"gene"},{"created":"2021-08-29T15:29:03.199854+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFT172: Rating: RED; Mode of pathogenicity: None; Publications: 25664603; Phenotypes: GH deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT172","entity_type":"gene"},{"created":"2021-08-29T15:26:35.112211+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SAMD9 as ready","entity_name":"SAMD9","entity_type":"gene"},{"created":"2021-08-29T15:26:35.103400+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: samd9 has been classified as Green List (High Evidence).","entity_name":"SAMD9","entity_type":"gene"},{"created":"2021-08-29T15:26:14.347119+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SAMD9 as Green List (high evidence)","entity_name":"SAMD9","entity_type":"gene"},{"created":"2021-08-29T15:26:14.337112+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: samd9 has been classified as Green List (High Evidence).","entity_name":"SAMD9","entity_type":"gene"},{"created":"2021-08-29T15:26:04.683761+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.334","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27182967; Phenotypes: MIRAGE syndrome, MIM#617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SAMD9","entity_type":"gene"},{"created":"2021-08-29T14:57:16.438051+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.97","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: FAME7 as ready","entity_name":"FAME7","entity_type":"str"},{"created":"2021-08-29T14:57:16.425722+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.97","user_name":"Bryony Thompson","item_type":"entity","text":"Str: fame7 has been classified as Red List (Low Evidence).","entity_name":"FAME7","entity_type":"str"},{"created":"2021-08-29T14:57:07.366696+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.97","user_name":"Bryony Thompson","item_type":"entity","text":"STR: FAME7 was added\nSTR: FAME7 was added to Repeat Disorders. Sources: Literature\nMode of inheritance for STR: FAME7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: FAME7 were set to 29507423\nPhenotypes for STR: FAME7 were set to Epilepsy, familial adult myoclonic, 7 MIM#618075\nReview for STR: FAME7 was set to RED\nAdded comment: The expanded (TTTTA)exp(TTTCA)exp(TTTTA)n allele was identified in a single case with myoclonic epilepsy. The repeat is similar to the SAMD12 FAME1 TTTTA/TTTCA pentanucleotide repeat. \nSources: Literature","entity_name":"FAME7","entity_type":"str"},{"created":"2021-08-29T14:41:00.667091+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.96","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: FAME6 as ready","entity_name":"FAME6","entity_type":"str"},{"created":"2021-08-29T14:41:00.655606+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.96","user_name":"Bryony Thompson","item_type":"entity","text":"Str: fame6 has been classified as Red List (Low Evidence).","entity_name":"FAME6","entity_type":"str"},{"created":"2021-08-29T14:40:39.381109+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.96","user_name":"Bryony Thompson","item_type":"entity","text":"STR: FAME6 was added\nSTR: FAME6 was added to Repeat Disorders. Sources: Literature\nMode of inheritance for STR: FAME6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: FAME6 were set to 29507423\nPhenotypes for STR: FAME6 were set to Epilepsy, familial adult myoclonic, 6 MIM#618074\nReview for STR: FAME6 was set to RED\nAdded comment: The expanded (TTTTA)22(TTTCA)exp(TTTTA)exp allele was identified 5 affected carriers in a single family. (TTTTA)18 is the reference repeats. The repeat is similar to the SAMD12 FAME1 TTTTA/TTTCA pentanucleotide repeat. \nSources: Literature","entity_name":"FAME6","entity_type":"str"},{"created":"2021-08-29T13:55:22.127650+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.78","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: FTDALS as ready","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-29T13:55:22.119241+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.78","user_name":"Bryony Thompson","item_type":"entity","text":"Str: ftdals has been classified as Green List (High Evidence).","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-29T13:55:10.245036+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.78","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: FTDALS as Green List (high evidence)","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-29T13:55:10.235855+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.78","user_name":"Bryony Thompson","item_type":"entity","text":"Str: ftdals has been classified as Green List (High Evidence).","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-29T13:53:56.580089+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"STR: FTDALS was added\nSTR: FTDALS was added to Incidentalome. Sources: Expert list\nMode of inheritance for STR: FTDALS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: FTDALS were set to 25577942; 21944779; 21944778\nPhenotypes for STR: FTDALS were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550\nReview for STR: FTDALS was set to GREEN\nSTR: FTDALS was marked as clinically relevant\nAdded comment: NG_031977​.1:g.5321GGGGCC[X]\r\nRepeat expansion affects the protein degradation pathways and may contribute to TDP‐43 accumulation\r\nNormal alleles: ≤25 G4C2 hexanucleotide repeat units generally considered normal\r\nPathogenic high-penetrance alleles: ≥60 G4C2 hexanucleotide repeat units are considered pathogenic\r\nNote: The minimal size of a G4C2 pathogenic repeat is under debate: some studies consider repeats of >30 G4C2 hexanucleotide repeat units as pathogenic, whereas others use a cutoff of 60 G4C2 hexanucleotide repeat units. \nSources: Expert list","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-29T13:52:01.185182+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.76","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: C9orf72 as No list","entity_name":"C9orf72","entity_type":"gene"},{"created":"2021-08-29T13:52:01.180128+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.76","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Added as an STR to panel under FTDALS","entity_name":"C9orf72","entity_type":"gene"},{"created":"2021-08-29T13:52:01.143107+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.76","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: c9orf72 has been removed from the panel.","entity_name":"C9orf72","entity_type":"gene"},{"created":"2021-08-29T13:45:59.580992+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8973","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: FAME1 as ready","entity_name":"FAME1","entity_type":"str"},{"created":"2021-08-29T13:45:59.572525+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8973","user_name":"Bryony Thompson","item_type":"entity","text":"Str: fame1 has been classified as Green List (High Evidence).","entity_name":"FAME1","entity_type":"str"},{"created":"2021-08-29T13:44:05.576841+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8973","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: FAME1 as Green List (high evidence)","entity_name":"FAME1","entity_type":"str"},{"created":"2021-08-29T13:44:05.567469+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8973","user_name":"Bryony Thompson","item_type":"entity","text":"Str: fame1 has been classified as Green List (High Evidence).","entity_name":"FAME1","entity_type":"str"},{"created":"2021-08-29T13:43:37.860746+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8972","user_name":"Bryony Thompson","item_type":"entity","text":"STR: FAME1 was added\nSTR: FAME1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for STR: FAME1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for STR: FAME1 were set to 30194086; 29507423\nPhenotypes for STR: FAME1 were set to Epilepsy, familial adult myoclonic, 1 MIM#601068\nReview for STR: FAME1 was set to GREEN\nSTR: FAME1 was marked as clinically relevant\nAdded comment: NC_000008.10:g.119379055_119379157TGAAA[X]TAAAA[X]\r\nA heterozygous or homozygous 5-bp expanded TTTCA(n) insertion associated with an upstream 5-bp TTTTA(n) repeat expansion in a noncoding region within intron 4 of the SAMD12 gene, was identified in over 50 Chinese and Japanese families. 4 homozygous cases from 3 families had a more severe phenotype. The TTTTA repeat was present in controls, while the TTTCA was absent and only present in cases (100-3680 repeats reported). RNA toxicity is expected to be the mechanism of disease. \nSources: Expert list","entity_name":"FAME1","entity_type":"str"},{"created":"2021-08-29T13:35:58.878870+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8971","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SAMD12 as No list","entity_name":"SAMD12","entity_type":"gene"}]}