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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1753",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1751",
"results": [
{
"created": "2020-07-01T16:31:52.477476+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FKBP14 as Green List (high evidence)",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:31:52.460382+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fkbp14 has been classified as Green List (High Evidence).",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:31:30.618820+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHST14 as Green List (high evidence)",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:31:30.609789+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst14 has been classified as Green List (High Evidence).",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:31:08.186644+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FKBP14 as Green List (high evidence)",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:31:08.167543+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fkbp14 has been classified as Green List (High Evidence).",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:31:00.176218+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FKBP14 as ready",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:31:00.163390+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fkbp14 has been classified as Red List (Low Evidence).",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:30:45.435516+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHST14 as Green List (high evidence)",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:30:45.424621+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst14 has been classified as Green List (High Evidence).",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:30:16.114565+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229).\r\nAt least 6 unrelated families with homozygous or compound heterozygous variants reported. \nSources: Expert list; to: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229).\r\nAt least 6 unrelated families with homozygous or compound heterozygous variants reported with this EDS subtype. \r\nSources: Expert list",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:29:49.177993+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FKBP14: Changed rating: GREEN",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:29:39.911384+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FKBP14 was added\ngene: FKBP14 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list\nMode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FKBP14 were set to 22265013; 28306229; 24773188; 27149304\nPhenotypes for gene: FKBP14 were set to Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557\nAdded comment: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229).\r\nAt least 6 unrelated families with homozygous or compound heterozygous variants reported. \nSources: Expert list",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:28:41.462146+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V0A2 as ready",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:28:41.451760+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:28:37.832544+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP6V0A2 as Green List (high evidence)",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:28:37.822839+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:26:44.239415+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH1 as ready",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:26:44.229523+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch1 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:26:41.741628+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH1 were changed from Aortic valve disease MIM# 109730 to Aortic valve disease MIM# 109730; Thoracic aortic aneurysm",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:26:16.455577+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOTCH1 as Green List (high evidence)",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:26:16.441612+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch1 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:24:46.784544+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2721",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: HNRNPH1 as Green List (high evidence)",
"entity_name": "HNRNPH1",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:24:46.772695+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2721",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hnrnph1 has been classified as Green List (High Evidence).",
"entity_name": "HNRNPH1",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:23:59.741700+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH18A1 as ready",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:23:59.729813+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh18a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:23:56.012509+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDH18A1 as Green List (high evidence)",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:23:56.002654+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh18a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:22:10.783122+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD6 as ready",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:22:10.779056+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Primarily associated with aortic valve disease, but increased prevalence of thoracic aneurysm also documented.",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:22:10.748173+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:21:50.970112+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMAD6 as Amber List (moderate evidence)",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:21:50.960665+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:21:02.288853+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PLOD1 as ready",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:21:02.266351+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: plod1 has been classified as Green List (High Evidence).",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:20:58.498850+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PLOD1 as Green List (high evidence)",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:20:58.486098+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: plod1 has been classified as Green List (High Evidence).",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:19:51.205452+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PRDM5 as ready",
"entity_name": "PRDM5",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:19:51.194738+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prdm5 has been classified as Green List (High Evidence).",
"entity_name": "PRDM5",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:19:44.688200+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PRDM5 as Green List (high evidence)",
"entity_name": "PRDM5",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:19:44.674517+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prdm5 has been classified as Green List (High Evidence).",
"entity_name": "PRDM5",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:19:15.904077+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRDM5 was added\ngene: PRDM5 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list\nMode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRDM5 were set to 28306229; 21664999\nPhenotypes for gene: PRDM5 were set to Brittle cornea syndrome 2, MIM#614170\nReview for gene: PRDM5 was set to GREEN\nAdded comment: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229). Homozygous variants identified in at least 7 unrelated confirmed/likely consanguineous brittle cornea syndrome families. The mutation spectrum included stopgain, missense, splice site, and a large deletion. \nSources: Expert list",
"entity_name": "PRDM5",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:18:15.546559+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.34",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30071989, 19085907, 26776312, 18684712, 23572558, 20463014; Phenotypes: Fibrodysplasia ossificans progressiva (MIM# 135100); Mode of inheritance: None",
"entity_name": "ACVR1",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:18:04.111921+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2720",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HNRNPH1 was added\ngene: HNRNPH1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: HNRNPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPH1 were set to PMID: 32335897; 29938792\nPhenotypes for gene: HNRNPH1 were set to HNRNPH1 ‐related syndromic intellectual disability\nReview for gene: HNRNPH1 was set to GREEN\nAdded comment: 1st patient reported in 2018 with intellectual disability and dysmorphic features and HNRNPH1 heterozygous missense variant. \r\n\r\n2020 paper reports additional 7 cases with ID, short stature, microcephaly, distinctive dysmorphic facial features, and congenital anomalies (cranial, brain, genitourinary, palate, ophthalmologic). They all had HNRNPH1 heterozygous pathogenic variants (missense, frameshift, in‐frame deletion, entire gene duplication) and were identified using clinical networks and GeneMatcher. No comments in paper if all de novo. \nSources: Literature",
"entity_name": "HNRNPH1",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:09:29.887441+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC6 as ready",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:09:29.877582+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc6 has been classified as Red List (Low Evidence).",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:09:25.028273+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCC6 as Red List (low evidence)",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:09:25.014926+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc6 has been classified as Red List (Low Evidence).",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:09:24.069758+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC39A13 as ready",
"entity_name": "SLC39A13",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:09:24.052895+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc39a13 has been classified as Green List (High Evidence).",
"entity_name": "SLC39A13",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:09:04.134007+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC39A13 as Green List (high evidence)",
"entity_name": "SLC39A13",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:09:04.122920+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc39a13 has been classified as Green List (High Evidence).",
"entity_name": "SLC39A13",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:08:31.337766+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:07:48.989413+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TNXB as ready",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:07:48.976183+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tnxb has been classified as Green List (High Evidence).",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:07:37.189309+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TNXB as Green List (high evidence)",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:07:37.184008+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229)",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:07:37.144899+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tnxb has been classified as Green List (High Evidence).",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:07:15.456293+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.65",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: TPM2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30285720, 27726070, 24692096; Phenotypes: Arthrogryposis, distal, type 1A/2B4 (MIM#108120); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TPM2",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:05:59.367504+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ZNF469 as ready",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:05:59.353574+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: znf469 has been classified as Green List (High Evidence).",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:05:47.513137+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZNF469 as Green List (high evidence)",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:05:47.507061+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229)",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:05:47.463841+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: znf469 has been classified as Green List (High Evidence).",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:04:50.125162+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2719",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PDCD6IP was added\ngene: PDCD6IP was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PDCD6IP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDCD6IP were set to PMID: 32286682\nPhenotypes for gene: PDCD6IP were set to Primary microcephaly\nReview for gene: PDCD6IP was set to RED\nAdded comment: One consanguineous family with 2 affected sibs with primary microcephaly (-4SD), intellectual disability and short stature (-5/6SD), and homozygous frameshift variant in PDCD6IP. The homozygous variant was confirmed in both affected sibs, while the four healthy siblings and parents were heterozygous. The clinical features observed in the patients were similar to the phenotypes observed in mouse and zebrafish models of PDCD6IP mutations in previous studies. \nSources: Literature",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:04:10.020917+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: C1S were set to 30071989; 27745832; 31921203",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:02:28.844321+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.132",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PDCD6IP was added\ngene: PDCD6IP was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: PDCD6IP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDCD6IP were set to PMID: 32286682\nPhenotypes for gene: PDCD6IP were set to Primary microcephaly\nReview for gene: PDCD6IP was set to RED\nAdded comment: One consanguineous family with 2 affected sibs with primary microcephaly (-4SD), intellectual disability and short stature (-5/6SD), and homozygous frameshift variant in PDCD6IP. The homozygous variant was confirmed in both affected sibs, while the four healthy siblings and parents were heterozygous. The clinical features observed in the patients were similar to the phenotypes observed in mouse and zebrafish models of PDCD6IP mutations in previous studies. \nSources: Literature",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:02:11.690845+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: C1S as Amber List (moderate evidence)",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:02:11.683938+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229)",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2020-07-01T16:02:11.612572+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: c1s has been classified as Amber List (Moderate Evidence).",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:53:52.831781+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.106",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: ELN was added\ngene: ELN was added to Aortopathy_Connective Tissue Disorders. Sources: Other\nMode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ELN were set to 27866049; 31560829; 19844261; 19844261\nPhenotypes for gene: ELN were set to Cutis laxa 123700; Supravalvar aortic stenosis 185500\nReview for gene: ELN was set to GREEN\nAdded comment: >3 families with Cutis laxa or Supravalvar aortic stenosis.\r\n\r\nPMID: 30071989\r\nAssertion made by the Aortopathy working group. So far there is no evidence that patients with ELN mutations present with aortic dissection or progressive aortic enlargement. Functional evidence, however, supports a role for ELN in HTAAD. ELN mutations cause AD cutis laxa syndrome, a disease with low risk for thoracic aortic disease and primarily diagnosed based on non-vascular features \nSources: Other",
"entity_name": "ELN",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:53:32.174922+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.115",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: NME5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:53:11.392697+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.115",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: NME5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:52:37.224239+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.114",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:52:25.784450+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.114",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: NME5: Added comment: One patient with PCD with situs solitus, with radial spokes (RS) and central pair (CP) defects. Patient had a homozygous nonsense variant in NME5, with parents as carriers. Morpholino knockdown of nme5 in zebrafish embryos resulted in motile cilia defects with phenotypes compatible with ciliopathy. \r\nSources: Literature; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:51:54.419835+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.114",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NME5 was added\ngene: NME5 was added to Ciliary Dyskinesia. Sources: Literature\nMode of inheritance for gene: NME5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NME5 were set to PMID: 32185794\nPhenotypes for gene: NME5 were set to Primary ciliary dyskinesia\nReview for gene: NME5 was set to RED\nAdded comment: One patient with PCD with situs solitus, with radial spokes (RS) and central pair (CP) defects. Patient had a homozygous nonsense variant in NME5, with parents as carriers. Morpholino knockdown of nme5 in zebrafish embryos resulted in motile cilia defects with phenotypes compatible with ciliopathy. \nSources: Literature",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:50:36.152370+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.106",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CHST14 was added\ngene: CHST14 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHST14 were set to PMID: 28306229; 25703627; 26373698\nPhenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 (MIM# 601776)\nReview for gene: CHST14 was set to GREEN\nAdded comment: PMID: 28306229; one of the EDS genes recognised by the International EDS Consortium\r\n\r\nPMID: 25703627, 5 individuals from 4 families\r\nPMID: 26373698, 7 individuals from 4 families \nSources: Literature",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:40:54.327870+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: C1R as ready",
"entity_name": "C1R",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:40:54.315058+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: c1r has been classified as Green List (High Evidence).",
"entity_name": "C1R",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:40:49.718094+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: C1R were changed from to Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080)",
"entity_name": "C1R",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:39:18.799060+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.105",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: C1R were set to ",
"entity_name": "C1R",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:38:43.915367+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: C1R was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "C1R",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:38:18.016818+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: C1R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "C1R",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:36:10.867169+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: C1R as Green List (high evidence)",
"entity_name": "C1R",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:36:10.860686+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229)",
"entity_name": "C1R",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:36:10.813886+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: c1r has been classified as Green List (High Evidence).",
"entity_name": "C1R",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:35:24.557607+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.50",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ADAMTS19 as Green List (high evidence)",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:35:24.544949+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.50",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: adamts19 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:34:33.690626+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.49",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ADAMTS19: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32323311, 31844321; Phenotypes: Heart valve disease (HVD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:34:17.234998+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: B4GALT7 as ready",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:34:17.225761+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: b4galt7 has been classified as Green List (High Evidence).",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:34:12.387020+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: B4GALT7 as Green List (high evidence)",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:34:12.377740+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: b4galt7 has been classified as Green List (High Evidence).",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:33:44.066516+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.101",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: B4GALT7 was added\ngene: B4GALT7 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list\nMode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B4GALT7 were set to 28306229; 26940150; 24755949; 23956117\nPhenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome with short stature and limb anomalies, 130070; Spondylodysplastic EDS\nReview for gene: B4GALT7 was set to GREEN\nAdded comment: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229).\r\nAt least 6 families reported with compound heterozygous or homozygous variants, with a spondylodysplastic EDS phenotype. \nSources: Expert list",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:28:29.710693+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.100",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ATP6V0A2 was added\ngene: ATP6V0A2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP6V0A2 were set to PMID: 23963297\nPhenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA (MIM# 219200), Wrinkly skin syndrome (MIM# 278250)\nPenetrance for gene: ATP6V0A2 were set to unknown\nReview for gene: ATP6V0A2 was set to GREEN\nAdded comment: PMID: 23963297; 6 patients from 5 unrelated families with cutis laxa\r\n\r\nPMID: 30071989; not a gene for HTAAD by clingen working group \nSources: Literature",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:26:21.102357+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.94",
"user_name": "Chris Richmond",
"item_type": "entity",
"text": "edited their review of gene: AKT3: Added comment: Established cause of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937). Capillary malformations reported in PMID 23745724 & 22729224, both cases de novo AKT3 variants.; Changed rating: GREEN",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:25:48.074556+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.94",
"user_name": "Chris Richmond",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:25:46.913108+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: B3GALT6 as ready",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:25:46.899203+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: b3galt6 has been classified as Green List (High Evidence).",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-07-01T15:23:59.593437+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.94",
"user_name": "Chris Richmond",
"item_type": "entity",
"text": "gene: AKT3 was added\ngene: AKT3 was added to Inherited Vascular Malformations. Sources: Expert Review\nMode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AKT3 were set to 23745724; 22729224\nPhenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937)\nPenetrance for gene: AKT3 were set to unknown\nMode of pathogenicity for gene: AKT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nAdded comment: Established cause of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937). Capillary malformations reported in PMID 23745724 & 22729224, both cases de novo AKT3 variants. \nSources: Expert Review",
"entity_name": "AKT3",
"entity_type": "gene"
}
]
}