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{
"count": 220917,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1225",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1223",
"results": [
{
"created": "2021-08-28T20:53:56.284950+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.93",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SPD1 as Green List (high evidence)",
"entity_name": "SPD1",
"entity_type": "str"
},
{
"created": "2021-08-28T20:53:56.275982+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.93",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: spd1 has been classified as Green List (High Evidence).",
"entity_name": "SPD1",
"entity_type": "str"
},
{
"created": "2021-08-28T20:53:46.909789+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SPD1 was added\nSTR: SPD1 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: SPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SPD1 were set to 8817328; 33811808; 33533119\nPhenotypes for STR: SPD1 were set to Synpolydactyly 1 MIM#186000\nReview for STR: SPD1 was set to GREEN\nSTR: SPD1 was marked as clinically relevant\nAdded comment: NM_000523.4(HOXD13):c.212_213GCG[X]\r\nMechanism of disease is polyAlanine tract associated with dominant-negative effect\r\nNormal repeat number: 15\r\nPathogenic repeat number: 24\r\nTruncation of repeat also reported \nSources: Expert list",
"entity_name": "SPD1",
"entity_type": "str"
},
{
"created": "2021-08-28T20:49:29.155186+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.91",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed STR:SPD1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-28T20:43:33.621175+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: DAB1 as ready",
"entity_name": "DAB1",
"entity_type": "str"
},
{
"created": "2021-08-28T20:43:33.613009+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: dab1 has been classified as Green List (High Evidence).",
"entity_name": "DAB1",
"entity_type": "str"
},
{
"created": "2021-08-28T20:43:05.169931+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: DAB1 as Green List (high evidence)",
"entity_name": "DAB1",
"entity_type": "str"
},
{
"created": "2021-08-28T20:43:05.160919+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: dab1 has been classified as Green List (High Evidence).",
"entity_name": "DAB1",
"entity_type": "str"
},
{
"created": "2021-08-28T20:42:27.878295+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.312",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: DAB1 was added\nSTR: DAB1 was added to Callosome. Sources: Expert list\nMode of inheritance for STR: DAB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: DAB1 were set to 28686858; 31145571\nPhenotypes for STR: DAB1 were set to Spinocerebellar ataxia 37 MIM#615945\nReview for STR: DAB1 was set to GREEN\nSTR: DAB1 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. RNA toxicity is the mechanism of disease.\r\nNon-pathogenic allele: (ATTTT)7–400\r\nPathogenic allele: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90] \nSources: Expert list",
"entity_name": "DAB1",
"entity_type": "str"
},
{
"created": "2021-08-28T20:40:45.881706+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA37 as ready",
"entity_name": "SCA37",
"entity_type": "str"
},
{
"created": "2021-08-28T20:40:45.872302+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.90",
"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": "2021-08-28T20:40:41.702526+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA37 as Green List (high evidence)",
"entity_name": "SCA37",
"entity_type": "str"
},
{
"created": "2021-08-28T20:40:41.693462+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.90",
"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": "2021-08-28T20:40:10.383068+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.89",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA37 was added\nSTR: SCA37 was added to Repeat Disorders. 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. RNA toxicity is the mechanism of disease.\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": "2021-08-28T20:31:41.363450+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.311",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DAB1 as No list",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-08-28T20:31:41.358869+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.311",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: STR expansion is the mechanism of disease for this gene. It has been added as an STR to this panel.",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-08-28T20:31:41.325944+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.311",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dab1 has been removed from the panel.",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-08-28T20:27:01.045299+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.88",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Founder Filipino variant. Associated with an antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron. The number of repeats in these cases ranged from 35 to 52 and showed a highly significant inverse correlation with age at disease onset. The mechanism of disease is unknown, possibly this intronic retroelement may induce transcriptional interference in TAF1 expression. \nSources: Expert list; to: Founder Filipino variant. Associated with an antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within intron 32. The number of repeats in these cases ranged from 35 to 52 and showed a highly significant inverse correlation with age at disease onset. The mechanism of disease is unknown, possibly this intronic retroelement may induce transcriptional interference in TAF1 expression. \r\nSources: Expert list",
"entity_name": "XDP",
"entity_type": "str"
},
{
"created": "2021-08-28T20:21:44.444619+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.88",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: XDP as ready",
"entity_name": "XDP",
"entity_type": "str"
},
{
"created": "2021-08-28T20:21:44.433986+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.88",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: xdp has been classified as Green List (High Evidence).",
"entity_name": "XDP",
"entity_type": "str"
},
{
"created": "2021-08-28T20:21:33.176216+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TAF1 as No list",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2021-08-28T20:21:33.171461+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Added as an STR to the panel",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2021-08-28T20:21:33.137770+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: taf1 has been removed from the panel.",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2021-08-28T20:20:22.044060+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: XDP as ready",
"entity_name": "XDP",
"entity_type": "str"
},
{
"created": "2021-08-28T20:20:22.034293+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: xdp has been classified as Green List (High Evidence).",
"entity_name": "XDP",
"entity_type": "str"
},
{
"created": "2021-08-28T20:20:07.042767+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: XDP as Green List (high evidence)",
"entity_name": "XDP",
"entity_type": "str"
},
{
"created": "2021-08-28T20:20:07.033680+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: xdp has been classified as Green List (High Evidence).",
"entity_name": "XDP",
"entity_type": "str"
},
{
"created": "2021-08-28T20:19:26.333775+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: XDP was added\nSTR: XDP was added to Early-onset Parkinson disease. Sources: Expert list\nfounder tags were added to STR: XDP.\nMode of inheritance for STR: XDP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: XDP were set to 17273961; 29229810\nPhenotypes for STR: XDP were set to Dystonia-Parkinsonism, X-linked MIM#314250\nReview for STR: XDP was set to GREEN\nSTR: XDP was marked as clinically relevant\nAdded comment: Founder Filipino variant. Associated with an antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron. The number of repeats in these cases ranged from 35 to 52 and showed a highly significant inverse correlation with age at disease onset. The mechanism of disease is unknown, possibly this intronic retroelement may induce transcriptional interference in TAF1 expression. \nSources: Expert list",
"entity_name": "XDP",
"entity_type": "str"
},
{
"created": "2021-08-28T20:16:53.604294+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLI3 as ready",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-08-28T20:16:53.594485+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Green List (High Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-08-28T20:16:50.645341+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from Pallister-Hall syndrome to Pallister-Hall syndrome, MIM# 146510",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-08-28T20:16:42.532290+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLI3 were set to 9054938",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-08-28T20:16:32.328115+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLI3 as Green List (high evidence)",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-08-28T20:16:32.312993+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Green List (High Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-08-28T20:16:21.832362+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054938, 10945658, 11693785; Phenotypes: Pallister-Hall syndrome, MIM# 146510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-08-28T20:13:36.042241+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM37 as ready",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2021-08-28T20:13:36.031974+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim37 has been classified as Green List (High Evidence).",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2021-08-28T20:13:33.201662+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM37 were changed from Mulibrey nanism; Mulibery Nanism, 253250 to Mulibery nanism, MIM#253250",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2021-08-28T20:13:15.495557+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIM37 were set to ",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2021-08-28T20:12:50.681280+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.88",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: XDP as Green List (high evidence)",
"entity_name": "XDP",
"entity_type": "str"
},
{
"created": "2021-08-28T20:12:50.671501+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.88",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: xdp has been classified as Green List (High Evidence).",
"entity_name": "XDP",
"entity_type": "str"
},
{
"created": "2021-08-28T20:12:30.738426+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.87",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: XDP was added\nSTR: XDP was added to Repeat Disorders. Sources: Expert list\nfounder tags were added to STR: XDP.\nMode of inheritance for STR: XDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: XDP were set to 17273961; 29229810\nPhenotypes for STR: XDP were set to Dystonia-Parkinsonism, X-linked MIM#314250\nReview for STR: XDP was set to GREEN\nSTR: XDP was marked as clinically relevant\nAdded comment: Founder Filipino variant. Associated with an antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron. The number of repeats in these cases ranged from 35 to 52 and showed a highly significant inverse correlation with age at disease onset. The mechanism of disease is unknown, possibly this intronic retroelement may induce transcriptional interference in TAF1 expression. \nSources: Expert list",
"entity_name": "XDP",
"entity_type": "str"
},
{
"created": "2021-08-28T18:15:16.382942+10:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: FECD3 as ready",
"entity_name": "FECD3",
"entity_type": "str"
},
{
"created": "2021-08-28T18:15:16.373865+10:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fecd3 has been classified as Green List (High Evidence).",
"entity_name": "FECD3",
"entity_type": "str"
},
{
"created": "2021-08-28T18:15:08.029391+10:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: FECD3 as Green List (high evidence)",
"entity_name": "FECD3",
"entity_type": "str"
},
{
"created": "2021-08-28T18:15:08.019709+10:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fecd3 has been classified as Green List (High Evidence).",
"entity_name": "FECD3",
"entity_type": "str"
},
{
"created": "2021-08-28T18:14:24.978214+10:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FECD3 was added\nSTR: FECD3 was added to Corneal Dystrophy. Sources: Expert list\nMode of inheritance for STR: FECD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: FECD3 were set to 25722209; 24255041\nPhenotypes for STR: FECD3 were set to Corneal dystrophy, Fuchs endothelial, 3 MIM#613267\nReview for STR: FECD3 was set to GREEN\nSTR: FECD3 was marked as clinically relevant\nAdded comment: NG_011716.2:g.54765TGC[X]\r\nIntronic CTG repeat expansion, with RNA nuclear foci expected to be the mechanism of disease. The expanded CTG 18.1 allele conferring significant risk for FECD (>30-fold increase). The expanded allele cosegregates with the trait with complete penetrance in a majority of families, but we also document cases of incomplete penetrance.\r\nNormal: 5-31 repeats\r\nPathogenic: >50 repeats \nSources: Expert list",
"entity_name": "FECD3",
"entity_type": "str"
},
{
"created": "2021-08-28T18:12:01.213469+10:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TCF4 as No list",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-08-28T18:12:01.209417+10:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Added as an STR to this panel.",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-08-28T18:12:01.177180+10:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tcf4 has been removed from the panel.",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-08-28T18:10:54.055420+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.86",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: FECD3 as ready",
"entity_name": "FECD3",
"entity_type": "str"
},
{
"created": "2021-08-28T18:10:54.045269+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.86",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fecd3 has been classified as Green List (High Evidence).",
"entity_name": "FECD3",
"entity_type": "str"
},
{
"created": "2021-08-28T18:10:50.525437+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.86",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: FECD3 as Green List (high evidence)",
"entity_name": "FECD3",
"entity_type": "str"
},
{
"created": "2021-08-28T18:10:50.515396+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.86",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fecd3 has been classified as Green List (High Evidence).",
"entity_name": "FECD3",
"entity_type": "str"
},
{
"created": "2021-08-28T18:10:28.444676+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.85",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FECD3 was added\nSTR: FECD3 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: FECD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: FECD3 were set to 25722209; 24255041\nPhenotypes for STR: FECD3 were set to Corneal dystrophy, Fuchs endothelial, 3 MIM#613267\nReview for STR: FECD3 was set to GREEN\nSTR: FECD3 was marked as clinically relevant\nAdded comment: NG_011716.2:g.54765TGC[X]\r\nIntronic CTG repeat expansion, with RNA nuclear foci expected to be the mechanism of disease. The expanded CTG 18.1 allele conferring significant risk for FECD (>30-fold increase). The expanded allele cosegregates with the trait with complete penetrance in a majority of families, but we also document cases of incomplete penetrance.\r\nNormal: 5-31 repeats\r\nPathogenic: >50 repeats \nSources: Expert list",
"entity_name": "FECD3",
"entity_type": "str"
},
{
"created": "2021-08-28T17:12:26.374918+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: FTDALS as ready",
"entity_name": "FTDALS",
"entity_type": "str"
},
{
"created": "2021-08-28T17:12:26.365237+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.192",
"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": "2021-08-28T17:11:33.621234+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: FTDALS as Green List (high evidence)",
"entity_name": "FTDALS",
"entity_type": "str"
},
{
"created": "2021-08-28T17:11:33.612029+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.192",
"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": "2021-08-28T17:11:05.578393+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.191",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FTDALS was added\nSTR: FTDALS was added to Dystonia - complex. 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 26166205; 24363131; 26187722; 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": "2021-08-28T17:08:18.057716+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.190",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed STR:C9orf72 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-28T17:07:20.182568+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: FTDALS as ready",
"entity_name": "FTDALS",
"entity_type": "str"
},
{
"created": "2021-08-28T17:07:20.173821+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.114",
"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": "2021-08-28T17:07:15.632823+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: FTDALS as Green List (high evidence)",
"entity_name": "FTDALS",
"entity_type": "str"
},
{
"created": "2021-08-28T17:07:15.622165+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.114",
"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": "2021-08-28T17:06:42.259127+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FTDALS was added\nSTR: FTDALS was added to Early-onset Parkinson disease. 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; 31779815\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": "2021-08-28T17:03:15.707715+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.112",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed STR:C9orf72 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-28T17:01:01.605149+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: FTDALS as ready",
"entity_name": "FTDALS",
"entity_type": "str"
},
{
"created": "2021-08-28T17:01:01.595357+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.130",
"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": "2021-08-28T17:00:56.047539+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: FTDALS as Green List (high evidence)",
"entity_name": "FTDALS",
"entity_type": "str"
},
{
"created": "2021-08-28T17:00:56.036899+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.130",
"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": "2021-08-28T17:00:25.066390+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FTDALS was added\nSTR: FTDALS was added to Motor Neurone Disease. 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": "2021-08-28T16:56:22.503852+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.139",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: FTDALS as ready",
"entity_name": "FTDALS",
"entity_type": "str"
},
{
"created": "2021-08-28T16:56:22.495070+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.139",
"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": "2021-08-28T16:54:35.514363+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.128",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed STR:C9orf72 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-28T16:54:15.260777+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.139",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: FTDALS as Green List (high evidence)",
"entity_name": "FTDALS",
"entity_type": "str"
},
{
"created": "2021-08-28T16:54:15.220770+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.139",
"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": "2021-08-28T16:53:21.930843+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.138",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FTDALS was added\nSTR: FTDALS was added to Early-onset Dementia. 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": "2021-08-28T16:49:32.802157+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.137",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed STR:C9orf72 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-28T16:47:44.527648+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.84",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: FTDALS as ready",
"entity_name": "FTDALS",
"entity_type": "str"
},
{
"created": "2021-08-28T16:47:44.519241+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.84",
"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": "2021-08-28T16:47:20.453283+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.84",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: FTDALS as Green List (high evidence)",
"entity_name": "FTDALS",
"entity_type": "str"
},
{
"created": "2021-08-28T16:47:20.443226+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.84",
"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": "2021-08-28T16:47:09.369329+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FTDALS was added\nSTR: FTDALS was added to Repeat Disorders. 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": "2021-08-28T16:34:32.323736+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.82",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for STR: SCA12 were set to 27864267; 33811808",
"entity_name": "SCA12",
"entity_type": "str"
},
{
"created": "2021-08-28T16:34:21.164310+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: SCA12: Changed publications: 27864267, 33811808, 10581021",
"entity_name": "SCA12",
"entity_type": "str"
},
{
"created": "2021-08-28T16:32:55.796666+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for STR: SCA8 were set to 20301445",
"entity_name": "SCA8",
"entity_type": "str"
},
{
"created": "2021-08-28T16:32:36.775714+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.80",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: SCA8: Changed publications: 20301445, 10192387",
"entity_name": "SCA8",
"entity_type": "str"
},
{
"created": "2021-08-28T16:30:18.245622+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.80",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for STR: FXPOI were set to 20301558",
"entity_name": "FXPOI",
"entity_type": "str"
},
{
"created": "2021-08-28T16:30:01.635854+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.79",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: FXPOI: Changed publications: 20301558, 9647544",
"entity_name": "FXPOI",
"entity_type": "str"
},
{
"created": "2021-08-28T16:28:06.602344+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.79",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for STR: EPM1 were set to 29325606; 20301321",
"entity_name": "EPM1",
"entity_type": "str"
},
{
"created": "2021-08-28T16:27:56.083573+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.78",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: EPM1: Changed publications: 29325606, 20301321, 9126745",
"entity_name": "EPM1",
"entity_type": "str"
},
{
"created": "2021-08-28T16:26:42.728541+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.78",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for STR: FRDA were set to 20301458",
"entity_name": "FRDA",
"entity_type": "str"
},
{
"created": "2021-08-28T16:26:31.627496+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.77",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: FRDA: Changed publications: 20301458, 8596916",
"entity_name": "FRDA",
"entity_type": "str"
},
{
"created": "2021-08-28T16:24:08.171386+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.77",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for STR: DM1 were set to 20301344; 29325606",
"entity_name": "DM1",
"entity_type": "str"
},
{
"created": "2021-08-28T16:23:55.150626+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.76",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: DM1: Changed publications: 20301344, 29325606, 1546325",
"entity_name": "DM1",
"entity_type": "str"
},
{
"created": "2021-08-28T16:21:28.357758+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.76",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for STR: FXS were set to 33795824; 25227148",
"entity_name": "FXS",
"entity_type": "str"
},
{
"created": "2021-08-28T16:21:10.994174+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.75",
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